DOI: 10.1148/rg.252045176
Abdominal Neoplasms in Patients with Neurofibromatosis Type 1: Radiologic-Pathologic Correlation1
Angela D. Levy, LTC, MC, USA,
Nandini Patel, MD,
Nancy Dow, LTC, MC, USA,
Robert M. Abbott, MD,
Markku Miettinen, MD and
Leslie H. Sobin, MD
1 From the Departments of Radiologic Pathology (A.D.L., R.M.A.), Hepatic and Gastrointestinal Pathology (N.D., L.H.S), and Soft Tissue Pathology (M.M.), Armed Forces Institute of Pathology, Alaska and Fern Sts NW, Washington, DC 20306-6000; Department of Medical Education, Washington Hospital Center, Washington, DC (N.P.); Department of Radiology, University of Maryland School of Medicine, Baltimore (R.M.A.); and Department of Radiology and Nuclear Medicine, Uniformed Services University of the Health Sciences, Bethesda, Md (A.D.L., R.M.A.). Received September 1, 2004; accepted September 20. All authors have no financial relationships to disclose.
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Figure 1a. Café au lait spots. (a) Clinical photograph of a 42-year-old woman with NF1 who had abdominal pain from mesenteric and small intestinal neurofibromas shows multiple café au lait spots (black arrows) and sessile cutaneous neurofibromas (white arrow) on the anterior abdomen. (b) Clinical photograph of a 24-year-old man with NF1 and MPNST metastatic to the peritoneal cavity shows a long, oval café au lait spot on his leg.
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Figure 1b. Café au lait spots. (a) Clinical photograph of a 42-year-old woman with NF1 who had abdominal pain from mesenteric and small intestinal neurofibromas shows multiple café au lait spots (black arrows) and sessile cutaneous neurofibromas (white arrow) on the anterior abdomen. (b) Clinical photograph of a 24-year-old man with NF1 and MPNST metastatic to the peritoneal cavity shows a long, oval café au lait spot on his leg.
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Figure 2. Lisch nodules. Clinical photograph of the iris in a patient with NF1 shows yellow and brown nodules (arrows) that are elevated above the iris surface and affect the entire area of the iris.
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Figure 3. Innumerable cutaneous neurofibromas in a 74-year-old woman with NF1 who presented with melena and hematemesis from retroperitoneal MPNST invading the duodenum. Clinical photograph shows a pattern of sessile and pedunculated neurofibromas that is more typical of cutaneous neurofibromas affecting the trunk.
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Figure 4a. Histologic features of plexiform neurofibroma. (a) Photomicrograph (original magnification, x10; hematoxylin-eosin [H-E] stain) shows the fascicular arrangement of the tumor. Some fascicles are mucin rich (arrow). (b) Photomicrograph at higher magnification (original magnification, x16; H-E stain) shows dense, spindle-shaped curved nuclei mixed with eosinophilic collagen and basophilic myxoid matrix.
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Figure 4b. Histologic features of plexiform neurofibroma. (a) Photomicrograph (original magnification, x10; hematoxylin-eosin [H-E] stain) shows the fascicular arrangement of the tumor. Some fascicles are mucin rich (arrow). (b) Photomicrograph at higher magnification (original magnification, x16; H-E stain) shows dense, spindle-shaped curved nuclei mixed with eosinophilic collagen and basophilic myxoid matrix.
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Figure 5a. Bilateral psoas neurofibromas in a 32-year-old woman with NF1 who presented to the emergency department with right lower abdominal pain and nausea. (a) Longitudinal sonogram of the right lower quadrant shows a 10-cm oval heterogeneously hypoechoic mass. (b, c) Intravenous contrast material–enhanced CT scans show a hypoattenuating mass (arrow in b) containing focal areas of high attenuation arising from the right psoas muscle and a smaller hypoattenuating mass (arrowhead in c) in the left psoas muscle. (d) Photograph of the cut surface of the resected specimen from the right psoas muscle shows an oval, rubbery, tan mass surrounded by a thin fibrous capsule.
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Figure 5b. Bilateral psoas neurofibromas in a 32-year-old woman with NF1 who presented to the emergency department with right lower abdominal pain and nausea. (a) Longitudinal sonogram of the right lower quadrant shows a 10-cm oval heterogeneously hypoechoic mass. (b, c) Intravenous contrast material–enhanced CT scans show a hypoattenuating mass (arrow in b) containing focal areas of high attenuation arising from the right psoas muscle and a smaller hypoattenuating mass (arrowhead in c) in the left psoas muscle. (d) Photograph of the cut surface of the resected specimen from the right psoas muscle shows an oval, rubbery, tan mass surrounded by a thin fibrous capsule.
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Figure 5c. Bilateral psoas neurofibromas in a 32-year-old woman with NF1 who presented to the emergency department with right lower abdominal pain and nausea. (a) Longitudinal sonogram of the right lower quadrant shows a 10-cm oval heterogeneously hypoechoic mass. (b, c) Intravenous contrast material–enhanced CT scans show a hypoattenuating mass (arrow in b) containing focal areas of high attenuation arising from the right psoas muscle and a smaller hypoattenuating mass (arrowhead in c) in the left psoas muscle. (d) Photograph of the cut surface of the resected specimen from the right psoas muscle shows an oval, rubbery, tan mass surrounded by a thin fibrous capsule.
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Figure 5d. Bilateral psoas neurofibromas in a 32-year-old woman with NF1 who presented to the emergency department with right lower abdominal pain and nausea. (a) Longitudinal sonogram of the right lower quadrant shows a 10-cm oval heterogeneously hypoechoic mass. (b, c) Intravenous contrast material–enhanced CT scans show a hypoattenuating mass (arrow in b) containing focal areas of high attenuation arising from the right psoas muscle and a smaller hypoattenuating mass (arrowhead in c) in the left psoas muscle. (d) Photograph of the cut surface of the resected specimen from the right psoas muscle shows an oval, rubbery, tan mass surrounded by a thin fibrous capsule.
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Figure 6a. Bilateral plexiform neurofibromas of the lumbosacral plexus in a 25-year-old man with a family history of NF1. He presented to the emergency department complaining of abdominal pain following a motor vehicle accident. Intravenous contrast-enhanced CT scans show bilateral psoas masses. The mass on the right is large, lobular, and hypoattenuating with patchy contrast enhancement. It enlarges and extends into the adjacent neural foramen (arrow in a). Multiple branches of the inferior right lumbosacral plexus (arrowheads) are involved, including the femoral nerve adjacent to the external iliac vessels. The lower sacral foramina (curved arrow in c) are enlarged bilaterally.
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Figure 6b. Bilateral plexiform neurofibromas of the lumbosacral plexus in a 25-year-old man with a family history of NF1. He presented to the emergency department complaining of abdominal pain following a motor vehicle accident. Intravenous contrast-enhanced CT scans show bilateral psoas masses. The mass on the right is large, lobular, and hypoattenuating with patchy contrast enhancement. It enlarges and extends into the adjacent neural foramen (arrow in a). Multiple branches of the inferior right lumbosacral plexus (arrowheads) are involved, including the femoral nerve adjacent to the external iliac vessels. The lower sacral foramina (curved arrow in c) are enlarged bilaterally.
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Figure 6c. Bilateral plexiform neurofibromas of the lumbosacral plexus in a 25-year-old man with a family history of NF1. He presented to the emergency department complaining of abdominal pain following a motor vehicle accident. Intravenous contrast-enhanced CT scans show bilateral psoas masses. The mass on the right is large, lobular, and hypoattenuating with patchy contrast enhancement. It enlarges and extends into the adjacent neural foramen (arrow in a). Multiple branches of the inferior right lumbosacral plexus (arrowheads) are involved, including the femoral nerve adjacent to the external iliac vessels. The lower sacral foramina (curved arrow in c) are enlarged bilaterally.
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Figure 7a. Plexiform neurofibroma of the mesentery in a 10-year-old girl with NF1 who complained of chronic abdominal pain. (a–c) Intravenous contrast-enhanced CT scans show a large, multilobulated hypoattenuating mass arising from the sigmoid mesentery (* in a). There are extensive plexiform neurofibromas involving the lumbosacral plexus (arrows). (d) Image from an air contrast barium enema study shows leftward displacement and scalloping of the medial margin of the sigmoid colon (arrows). (e) Photograph of the cut surface of the resected mesenteric mass shows a lobulated mass composed of numerous mucoid plexiform neurofibromas. Cystic degeneration is also present. The mass partially encircles the sigmoid colon (arrow).
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Figure 7b. Plexiform neurofibroma of the mesentery in a 10-year-old girl with NF1 who complained of chronic abdominal pain. (a–c) Intravenous contrast-enhanced CT scans show a large, multilobulated hypoattenuating mass arising from the sigmoid mesentery (* in a). There are extensive plexiform neurofibromas involving the lumbosacral plexus (arrows). (d) Image from an air contrast barium enema study shows leftward displacement and scalloping of the medial margin of the sigmoid colon (arrows). (e) Photograph of the cut surface of the resected mesenteric mass shows a lobulated mass composed of numerous mucoid plexiform neurofibromas. Cystic degeneration is also present. The mass partially encircles the sigmoid colon (arrow).
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Figure 7c. Plexiform neurofibroma of the mesentery in a 10-year-old girl with NF1 who complained of chronic abdominal pain. (a–c) Intravenous contrast-enhanced CT scans show a large, multilobulated hypoattenuating mass arising from the sigmoid mesentery (* in a). There are extensive plexiform neurofibromas involving the lumbosacral plexus (arrows). (d) Image from an air contrast barium enema study shows leftward displacement and scalloping of the medial margin of the sigmoid colon (arrows). (e) Photograph of the cut surface of the resected mesenteric mass shows a lobulated mass composed of numerous mucoid plexiform neurofibromas. Cystic degeneration is also present. The mass partially encircles the sigmoid colon (arrow).
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Figure 7d. Plexiform neurofibroma of the mesentery in a 10-year-old girl with NF1 who complained of chronic abdominal pain. (a–c) Intravenous contrast-enhanced CT scans show a large, multilobulated hypoattenuating mass arising from the sigmoid mesentery (* in a). There are extensive plexiform neurofibromas involving the lumbosacral plexus (arrows). (d) Image from an air contrast barium enema study shows leftward displacement and scalloping of the medial margin of the sigmoid colon (arrows). (e) Photograph of the cut surface of the resected mesenteric mass shows a lobulated mass composed of numerous mucoid plexiform neurofibromas. Cystic degeneration is also present. The mass partially encircles the sigmoid colon (arrow).
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Figure 7e. Plexiform neurofibroma of the mesentery in a 10-year-old girl with NF1 who complained of chronic abdominal pain. (a–c) Intravenous contrast-enhanced CT scans show a large, multilobulated hypoattenuating mass arising from the sigmoid mesentery (* in a). There are extensive plexiform neurofibromas involving the lumbosacral plexus (arrows). (d) Image from an air contrast barium enema study shows leftward displacement and scalloping of the medial margin of the sigmoid colon (arrows). (e) Photograph of the cut surface of the resected mesenteric mass shows a lobulated mass composed of numerous mucoid plexiform neurofibromas. Cystic degeneration is also present. The mass partially encircles the sigmoid colon (arrow).
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Figure 8a. Ileal plexiform neurofibromas discovered in a routine pelvic examination of a 40-year-old asymptomatic woman with NF1. (a) Image from a small bowel barium study shows irregular narrowing of a long segment of distal ileum caused by intramural and intraluminal neurofibromas. The affected segment of ileum is displaced into the pelvis and separated from adjacent segments of intestine. (b) Intravenous contrast-enhanced CT scan shows homogeneous circumferential mural thickening (arrows) of the involved ileal segment. (c) Photograph of the opened resected ileum shows multiple intraluminal polypoid nodules of varying size on the mucosal surface.
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Figure 8b. Ileal plexiform neurofibromas discovered in a routine pelvic examination of a 40-year-old asymptomatic woman with NF1. (a) Image from a small bowel barium study shows irregular narrowing of a long segment of distal ileum caused by intramural and intraluminal neurofibromas. The affected segment of ileum is displaced into the pelvis and separated from adjacent segments of intestine. (b) Intravenous contrast-enhanced CT scan shows homogeneous circumferential mural thickening (arrows) of the involved ileal segment. (c) Photograph of the opened resected ileum shows multiple intraluminal polypoid nodules of varying size on the mucosal surface.
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Figure 8c. Ileal plexiform neurofibromas discovered in a routine pelvic examination of a 40-year-old asymptomatic woman with NF1. (a) Image from a small bowel barium study shows irregular narrowing of a long segment of distal ileum caused by intramural and intraluminal neurofibromas. The affected segment of ileum is displaced into the pelvis and separated from adjacent segments of intestine. (b) Intravenous contrast-enhanced CT scan shows homogeneous circumferential mural thickening (arrows) of the involved ileal segment. (c) Photograph of the opened resected ileum shows multiple intraluminal polypoid nodules of varying size on the mucosal surface.
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Figure 9a. Plexiform neurofibromas of the mesentery and small intestine in a 42-year-old woman with NF1 who was being evaluated for cervical carcinoma. (a) Image from a small bowel barium study shows scalloping of the mesenteric border of the small intestine and intraluminal polyps (arrows). The affected segment of small intestine is displaced into the pelvis away from the root of the small bowel mesentery. (b) Photograph of opened resected small intestine shows multiple mural masses and mucosal polyps (arrows).
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Figure 9b. Plexiform neurofibromas of the mesentery and small intestine in a 42-year-old woman with NF1 who was being evaluated for cervical carcinoma. (a) Image from a small bowel barium study shows scalloping of the mesenteric border of the small intestine and intraluminal polyps (arrows). The affected segment of small intestine is displaced into the pelvis away from the root of the small bowel mesentery. (b) Photograph of opened resected small intestine shows multiple mural masses and mucosal polyps (arrows).
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Figure 10a. Plexiform neurofibromatosis of the colon in a 9-year-old boy with previously unrecognized NF1 who was being evaluated for an asymptomatic palpable abdominal mass. (a–c) Intravenous contrast-enhanced CT scans (obtained at successively lower levels) show mural thickening (arrows) of the transverse (a), descending (b), and rectosigmoid (c) colon. (d) Photograph of the opened resected colon shows the complex, tortuous, "wormlike," plexiform neurofibromas (arrows) expanding the submucosal layers of the colonic wall.
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Figure 10b. Plexiform neurofibromatosis of the colon in a 9-year-old boy with previously unrecognized NF1 who was being evaluated for an asymptomatic palpable abdominal mass. (a–c) Intravenous contrast-enhanced CT scans (obtained at successively lower levels) show mural thickening (arrows) of the transverse (a), descending (b), and rectosigmoid (c) colon. (d) Photograph of the opened resected colon shows the complex, tortuous, "wormlike," plexiform neurofibromas (arrows) expanding the submucosal layers of the colonic wall.
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Figure 10c. Plexiform neurofibromatosis of the colon in a 9-year-old boy with previously unrecognized NF1 who was being evaluated for an asymptomatic palpable abdominal mass. (a–c) Intravenous contrast-enhanced CT scans (obtained at successively lower levels) show mural thickening (arrows) of the transverse (a), descending (b), and rectosigmoid (c) colon. (d) Photograph of the opened resected colon shows the complex, tortuous, "wormlike," plexiform neurofibromas (arrows) expanding the submucosal layers of the colonic wall.
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Figure 10d. Plexiform neurofibromatosis of the colon in a 9-year-old boy with previously unrecognized NF1 who was being evaluated for an asymptomatic palpable abdominal mass. (a–c) Intravenous contrast-enhanced CT scans (obtained at successively lower levels) show mural thickening (arrows) of the transverse (a), descending (b), and rectosigmoid (c) colon. (d) Photograph of the opened resected colon shows the complex, tortuous, "wormlike," plexiform neurofibromas (arrows) expanding the submucosal layers of the colonic wall.
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Figure 11a. Plexiform neurofibroma of the rectosigmoid colon in a 5-year-old girl with a 3-year history of constipation and previously unrecognized NF1. (a) Coronal T1-weighted MR image shows a thick hypointense thickening of the rectal wall. (b) Axial T2-weighted MR image shows a ringlike pattern (black arrows) to the hyperintense plexiform neurofibroma. The tumor also encircles the vagina and urethra. A plexiform neurofibroma of the left sacral plexus is also present (white arrow). (c) Photograph of the resected specimen shows the nodular cut surface of the plexiform neurofibroma that arose from the rectal wall.
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Figure 11b. Plexiform neurofibroma of the rectosigmoid colon in a 5-year-old girl with a 3-year history of constipation and previously unrecognized NF1. (a) Coronal T1-weighted MR image shows a thick hypointense thickening of the rectal wall. (b) Axial T2-weighted MR image shows a ringlike pattern (black arrows) to the hyperintense plexiform neurofibroma. The tumor also encircles the vagina and urethra. A plexiform neurofibroma of the left sacral plexus is also present (white arrow). (c) Photograph of the resected specimen shows the nodular cut surface of the plexiform neurofibroma that arose from the rectal wall.
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Figure 11c. Plexiform neurofibroma of the rectosigmoid colon in a 5-year-old girl with a 3-year history of constipation and previously unrecognized NF1. (a) Coronal T1-weighted MR image shows a thick hypointense thickening of the rectal wall. (b) Axial T2-weighted MR image shows a ringlike pattern (black arrows) to the hyperintense plexiform neurofibroma. The tumor also encircles the vagina and urethra. A plexiform neurofibroma of the left sacral plexus is also present (white arrow). (c) Photograph of the resected specimen shows the nodular cut surface of the plexiform neurofibroma that arose from the rectal wall.
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Figure 12a. Degenerating hepatic neurofibroma in a 23-year-old man with NF1 who complained of nausea and vomiting. (a) Longitudinal sonogram of the right lobe of the liver shows a solitary, complex, and echogenic mass. (b) Intravenous contrast-enhanced CT scan shows a heterogeneously hypointense mass with ill-defined borders in the right lobe of the liver.
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Figure 12b. Degenerating hepatic neurofibroma in a 23-year-old man with NF1 who complained of nausea and vomiting. (a) Longitudinal sonogram of the right lobe of the liver shows a solitary, complex, and echogenic mass. (b) Intravenous contrast-enhanced CT scan shows a heterogeneously hypointense mass with ill-defined borders in the right lobe of the liver.
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Figure 13a. Periportal plexiform neurofibromas and bilateral pheochromocytomas in a 44-year-old man with NF1 and uncontrolled hypertension. Intravenous contrast-enhanced CT scans (a obtained at a higher level than b) show a low-attenuation plexiform neurofibroma infiltrating through the hepatic hilum and periportal spaces throughout the liver (arrowheads). There are bilateral mixed-attenuation pheochromocytomas (arrows).
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Figure 13b. Periportal plexiform neurofibromas and bilateral pheochromocytomas in a 44-year-old man with NF1 and uncontrolled hypertension. Intravenous contrast-enhanced CT scans (a obtained at a higher level than b) show a low-attenuation plexiform neurofibroma infiltrating through the hepatic hilum and periportal spaces throughout the liver (arrowheads). There are bilateral mixed-attenuation pheochromocytomas (arrows).
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Figure 14a. Diffuse abdominal and retroperitoneal plexiform neurofibromatosis in an 11-year-old boy who complained of increasing abdominal girth. Intravenous contrast-enhanced CT scans (a obtained at a higher level than b) show low-attenuation plexiform neurofibromas infiltrating throughout the hepatic hilum, paraaortic regions, small bowel mesentery, greater omentum, and retrocrural space.
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Figure 14b. Diffuse abdominal and retroperitoneal plexiform neurofibromatosis in an 11-year-old boy who complained of increasing abdominal girth. Intravenous contrast-enhanced CT scans (a obtained at a higher level than b) show low-attenuation plexiform neurofibromas infiltrating throughout the hepatic hilum, paraaortic regions, small bowel mesentery, greater omentum, and retrocrural space.
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Figure 15a. Plexiform neurofibroma of the bladder in an 8-year-old girl with café au lait spots and inguinal freckling who presented with hematuria. (a) Sonogram of the bladder shows heterogeneous thickening of the posterior bladder wall (*). (b, c) Intravenous contrast-enhanced CT scans show a low-attenuation mass along the posterior wall of the bladder (* in b). The mass extends into the posterior pelvis and encircles the vagina and rectum (arrows in c).
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Figure 15b. Plexiform neurofibroma of the bladder in an 8-year-old girl with café au lait spots and inguinal freckling who presented with hematuria. (a) Sonogram of the bladder shows heterogeneous thickening of the posterior bladder wall (*). (b, c) Intravenous contrast-enhanced CT scans show a low-attenuation mass along the posterior wall of the bladder (* in b). The mass extends into the posterior pelvis and encircles the vagina and rectum (arrows in c).
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Figure 15c. Plexiform neurofibroma of the bladder in an 8-year-old girl with café au lait spots and inguinal freckling who presented with hematuria. (a) Sonogram of the bladder shows heterogeneous thickening of the posterior bladder wall (*). (b, c) Intravenous contrast-enhanced CT scans show a low-attenuation mass along the posterior wall of the bladder (* in b). The mass extends into the posterior pelvis and encircles the vagina and rectum (arrows in c).
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Figure 16a. Plexiform neurofibroma of the bladder in an 18-year-old man with known NF1 who developed renal insufficiency from chronic bilateral ureteral obstruction. (a) Unenhanced CT scan shows a low-attenuation mass thickening the posterior and left lateral bladder wall. There are high-attenuation septa (arrow) and nodules in the mass from the collagenous septa within the neurofibroma. (b) Photograph of the cut surface of the resected bladder specimen shows innumerable nodules (arrow) from cross sectioning the plexiform neurofibroma.
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Figure 16b. Plexiform neurofibroma of the bladder in an 18-year-old man with known NF1 who developed renal insufficiency from chronic bilateral ureteral obstruction. (a) Unenhanced CT scan shows a low-attenuation mass thickening the posterior and left lateral bladder wall. There are high-attenuation septa (arrow) and nodules in the mass from the collagenous septa within the neurofibroma. (b) Photograph of the cut surface of the resected bladder specimen shows innumerable nodules (arrow) from cross sectioning the plexiform neurofibroma.
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Figure 17a. Plexiform neurofibromas of the bladder and prostate in a 21-year-old man with NF1 who was being evaluated for infertility. (a) Sagittal T1-weighted MR image shows a large hypointense mass (*) infiltrating the posterior bladder wall. The mass extends inferiorly to involve the prostate (arrow) and perineum. (b) Axial T2-weighted MR image shows a ringlike (arrow) and septated pattern, consistent with the fascicular pattern of plexiform neurofibromas.
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Figure 17b. Plexiform neurofibromas of the bladder and prostate in a 21-year-old man with NF1 who was being evaluated for infertility. (a) Sagittal T1-weighted MR image shows a large hypointense mass (*) infiltrating the posterior bladder wall. The mass extends inferiorly to involve the prostate (arrow) and perineum. (b) Axial T2-weighted MR image shows a ringlike (arrow) and septated pattern, consistent with the fascicular pattern of plexiform neurofibromas.
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Figure 18. Spindled MPNST. Photomicrograph (original magnification, x10; H-E stain) shows a spindle cell MPNST arising from an intra-neural neurofibroma (*). There is geographic necrosis (arrow) within the highly cellular MPNST.
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Figure 19a. MPNST in a 20-year-old woman with NF1 who presented with right lower extremity pain and weakness. Unenhanced CT scans (a obtained at a higher level than b) show a large right pelvic mass (*) contiguous with the right iliopsoas muscle. The mass contains multiple areas of low-attenuation necrosis. There are plexiform neurofibromas of the sacral plexus (arrows) that widen the sacral foramina bilaterally and extend anteriorly into the pelvis.
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Figure 19b. MPNST in a 20-year-old woman with NF1 who presented with right lower extremity pain and weakness. Unenhanced CT scans (a obtained at a higher level than b) show a large right pelvic mass (*) contiguous with the right iliopsoas muscle. The mass contains multiple areas of low-attenuation necrosis. There are plexiform neurofibromas of the sacral plexus (arrows) that widen the sacral foramina bilaterally and extend anteriorly into the pelvis.
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Figure 20a. Retroperitoneal MPNST with rhabdomyosarcomatous differentiation (triton tumor) in a 22-year-old man with NF1 who complained of left thigh pain and a 20-pound weight loss over 3 months. (a) Coronal T1-weighted MR image shows a large hypointense left retroperitoneal mass (*). (b) Coronal T2-weighted MR image shows a mixed-signal-intensity mass that has a central area of higher signal intensity representing necrosis (arrow). (c) Gadolinium-enhanced T1-weighted image shows heterogeneously enhancing peripheral viable tumor and low-signal-intensity central necrosis (arrow). (d) Photograph of the resected, sectioned mass shows focal areas of necrosis and cyst formation. There is a thin, fibrous pseudocapsule (arrow).
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Figure 20b. Retroperitoneal MPNST with rhabdomyosarcomatous differentiation (triton tumor) in a 22-year-old man with NF1 who complained of left thigh pain and a 20-pound weight loss over 3 months. (a) Coronal T1-weighted MR image shows a large hypointense left retroperitoneal mass (*). (b) Coronal T2-weighted MR image shows a mixed-signal-intensity mass that has a central area of higher signal intensity representing necrosis (arrow). (c) Gadolinium-enhanced T1-weighted image shows heterogeneously enhancing peripheral viable tumor and low-signal-intensity central necrosis (arrow). (d) Photograph of the resected, sectioned mass shows focal areas of necrosis and cyst formation. There is a thin, fibrous pseudocapsule (arrow).
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Figure 20c. Retroperitoneal MPNST with rhabdomyosarcomatous differentiation (triton tumor) in a 22-year-old man with NF1 who complained of left thigh pain and a 20-pound weight loss over 3 months. (a) Coronal T1-weighted MR image shows a large hypointense left retroperitoneal mass (*). (b) Coronal T2-weighted MR image shows a mixed-signal-intensity mass that has a central area of higher signal intensity representing necrosis (arrow). (c) Gadolinium-enhanced T1-weighted image shows heterogeneously enhancing peripheral viable tumor and low-signal-intensity central necrosis (arrow). (d) Photograph of the resected, sectioned mass shows focal areas of necrosis and cyst formation. There is a thin, fibrous pseudocapsule (arrow).
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Figure 20d. Retroperitoneal MPNST with rhabdomyosarcomatous differentiation (triton tumor) in a 22-year-old man with NF1 who complained of left thigh pain and a 20-pound weight loss over 3 months. (a) Coronal T1-weighted MR image shows a large hypointense left retroperitoneal mass (*). (b) Coronal T2-weighted MR image shows a mixed-signal-intensity mass that has a central area of higher signal intensity representing necrosis (arrow). (c) Gadolinium-enhanced T1-weighted image shows heterogeneously enhancing peripheral viable tumor and low-signal-intensity central necrosis (arrow). (d) Photograph of the resected, sectioned mass shows focal areas of necrosis and cyst formation. There is a thin, fibrous pseudocapsule (arrow).
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Figure 21a. MPNST of the mesentery in a 36-year-old man with NF1 who presented with an enlarging left upper quadrant mass. Intravenous contrast-enhanced CT scans show a mass (* in a) in the small bowel mesentery that invades the left abdominal wall (black arrowheads). The mass has a large area of low-attenuation necrosis and is surrounded by a thin capsule (black arrow in a). The patient also has subcutaneous neurofibromas (white arrowheads) and parapsoas plexiform neurofibromas (white arrows in a).
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Figure 21b. MPNST of the mesentery in a 36-year-old man with NF1 who presented with an enlarging left upper quadrant mass. Intravenous contrast-enhanced CT scans show a mass (* in a) in the small bowel mesentery that invades the left abdominal wall (black arrowheads). The mass has a large area of low-attenuation necrosis and is surrounded by a thin capsule (black arrow in a). The patient also has subcutaneous neurofibromas (white arrowheads) and parapsoas plexiform neurofibromas (white arrows in a).
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Figure 22. Ganglioneuromatous intestinal polyp. Photomicrograph (original magnification, x40; H-E stain) shows scattered ganglion cells (arrow) and spindle cells in the intestinal mucosa.
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Figure 23a. Jejunal ganglioneuroma, gastrointestinal stromal tumor, and adenocarcinoma in a 52-year-old man who presented with signs and symptoms of a small bowel obstruction and a known history of NF1. (a, b) Intravenous contrast-enhanced CT scans show a left adrenal pheochromocytoma (arrow in a), multiple subcutaneous neurofibromas, a plexiform neurofibroma in the right psoas muscle (arrow in b), and a homogeneous low-attenuation oval mass (arrowhead in b) that represented a jejunal ganglioneuroma leading an intussusception. (c) Photograph of the opened, resected specimen shows the jejunal ganglioneuroma (arrowheads), adenocarcinoma (black arrow), and exophytic gastrointestinal stromal tumor (white arrow).
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Figure 23b. Jejunal ganglioneuroma, gastrointestinal stromal tumor, and adenocarcinoma in a 52-year-old man who presented with signs and symptoms of a small bowel obstruction and a known history of NF1. (a, b) Intravenous contrast-enhanced CT scans show a left adrenal pheochromocytoma (arrow in a), multiple subcutaneous neurofibromas, a plexiform neurofibroma in the right psoas muscle (arrow in b), and a homogeneous low-attenuation oval mass (arrowhead in b) that represented a jejunal ganglioneuroma leading an intussusception. (c) Photograph of the opened, resected specimen shows the jejunal ganglioneuroma (arrowheads), adenocarcinoma (black arrow), and exophytic gastrointestinal stromal tumor (white arrow).
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Figure 23c. Jejunal ganglioneuroma, gastrointestinal stromal tumor, and adenocarcinoma in a 52-year-old man who presented with signs and symptoms of a small bowel obstruction and a known history of NF1. (a, b) Intravenous contrast-enhanced CT scans show a left adrenal pheochromocytoma (arrow in a), multiple subcutaneous neurofibromas, a plexiform neurofibroma in the right psoas muscle (arrow in b), and a homogeneous low-attenuation oval mass (arrowhead in b) that represented a jejunal ganglioneuroma leading an intussusception. (c) Photograph of the opened, resected specimen shows the jejunal ganglioneuroma (arrowheads), adenocarcinoma (black arrow), and exophytic gastrointestinal stromal tumor (white arrow).
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Figure 24a. Duodenal psammomatous somatostatinoma from a patient with NF1. (a) Photomicrograph (original magnification, x16; H-E stain) shows nests of small cells organized in a glandular pattern (arrows) in the duodenal mucosa. (b) Photomicrograph (original magnification, x40; H-E stain) shows basophilic psammoma bodies (arrow) within the tumor.
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Figure 24b. Duodenal psammomatous somatostatinoma from a patient with NF1. (a) Photomicrograph (original magnification, x16; H-E stain) shows nests of small cells organized in a glandular pattern (arrows) in the duodenal mucosa. (b) Photomicrograph (original magnification, x40; H-E stain) shows basophilic psammoma bodies (arrow) within the tumor.
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Figure 25a. Duodenal carcinoid in NF1. (a) Image from an upper gastrointestinal tract barium study of a 54-year-old woman with vague abdominal pain shows a well-defined intraluminal polypoid mass (arrow) in the second portion of the duodenum. (b) Intravenous contrast-enhanced CT scan, obtained during the late phase of contrast enhancement in a 34-year-old woman with NF1 who presented with jaundice, shows a well-defined, round, nonenhancing polypoid mass (arrow) in the second portion of the duodenum.
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Figure 25b. Duodenal carcinoid in NF1. (a) Image from an upper gastrointestinal tract barium study of a 54-year-old woman with vague abdominal pain shows a well-defined intraluminal polypoid mass (arrow) in the second portion of the duodenum. (b) Intravenous contrast-enhanced CT scan, obtained during the late phase of contrast enhancement in a 34-year-old woman with NF1 who presented with jaundice, shows a well-defined, round, nonenhancing polypoid mass (arrow) in the second portion of the duodenum.
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Figure 26a. Duodenal carcinoid in a 26-year-old woman who presented to the emergency department with right flank pain. Elevated values for her liver function tests were found during the evaluation. (a, b) Intravenous contrast-enhanced CT scans show pancreatic duct and biliary duct dilatation extending caudally to a focal, round mass in the second portion of the duodenum (arrow in b). A cutaneous neurofibroma is also present (arrowhead in b). (c) Endoscopic photograph shows an intraluminal polypoid mass (arrow) in the periampullary region of the duodenum.
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Figure 26b. Duodenal carcinoid in a 26-year-old woman who presented to the emergency department with right flank pain. Elevated values for her liver function tests were found during the evaluation. (a, b) Intravenous contrast-enhanced CT scans show pancreatic duct and biliary duct dilatation extending caudally to a focal, round mass in the second portion of the duodenum (arrow in b). A cutaneous neurofibroma is also present (arrowhead in b). (c) Endoscopic photograph shows an intraluminal polypoid mass (arrow) in the periampullary region of the duodenum.
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Figure 26c. Duodenal carcinoid in a 26-year-old woman who presented to the emergency department with right flank pain. Elevated values for her liver function tests were found during the evaluation. (a, b) Intravenous contrast-enhanced CT scans show pancreatic duct and biliary duct dilatation extending caudally to a focal, round mass in the second portion of the duodenum (arrow in b). A cutaneous neurofibroma is also present (arrowhead in b). (c) Endoscopic photograph shows an intraluminal polypoid mass (arrow) in the periampullary region of the duodenum.
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Figure 27. Histologic features of pheochromocytoma. Photomicrograph (original magnification, x40; H-E stain) shows a small nesting pattern of growth with typical Zellballen (arrow) appearance.
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Figure 28a. Incidentally discovered retroperitoneal paraganglioma in a 49-year-old woman with NF1 who complained of an enlarging right flank mass. Unenhanced (a) and gadolinium-enhanced (b) T1-weighted MR images show a large, multilobulated, heterogeneously enhancing plexiform neurofibroma of the right flank (black arrows). The round, enhancing mass anterior to the inferior vena cava (white arrow) was asymptomatic and proved to be a paraganglioma. There are numerous cutaneous neurofibromas.
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Figure 28b. Incidentally discovered retroperitoneal paraganglioma in a 49-year-old woman with NF1 who complained of an enlarging right flank mass. Unenhanced (a) and gadolinium-enhanced (b) T1-weighted MR images show a large, multilobulated, heterogeneously enhancing plexiform neurofibroma of the right flank (black arrows). The round, enhancing mass anterior to the inferior vena cava (white arrow) was asymptomatic and proved to be a paraganglioma. There are numerous cutaneous neurofibromas.
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Figure 29a. Histologic features of gastrointestinal stromal tumors in NF1. (a) Photomicrograph (original magnification, x40; H-E stain) shows a spindle cell gastrointestinal stromal tumor with uniform cigar-shaped elongated nuclei (arrow). (b) Photomicrograph (original magnification,x 80; H-E stain) shows skenoid fibers (arrow).
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Figure 29b. Histologic features of gastrointestinal stromal tumors in NF1. (a) Photomicrograph (original magnification, x40; H-E stain) shows a spindle cell gastrointestinal stromal tumor with uniform cigar-shaped elongated nuclei (arrow). (b) Photomicrograph (original magnification,x 80; H-E stain) shows skenoid fibers (arrow).
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Figure 30a. Gastrointestinal stromal tumor of the small intestine in a 36-year-old man with NF1 and gastrointestinal bleeding. Intravenous contrast-enhanced CT scans show a large, heterogeneous-attenuation, intraluminal small bowel mass (* in a). The inferior portion of the mass has cystic degeneration (white arrow in b). There are extensive plexiform neurofibromas of the lumbosacral plexus (black arrows) and enlargement of the sacral foramina. (Case courtesy of Francis J. Scholz, MD, Lahey Clinic, Burlington, Mass.)
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Figure 30b. Gastrointestinal stromal tumor of the small intestine in a 36-year-old man with NF1 and gastrointestinal bleeding. Intravenous contrast-enhanced CT scans show a large, heterogeneous-attenuation, intraluminal small bowel mass (* in a). The inferior portion of the mass has cystic degeneration (white arrow in b). There are extensive plexiform neurofibromas of the lumbosacral plexus (black arrows) and enlargement of the sacral foramina. (Case courtesy of Francis J. Scholz, MD, Lahey Clinic, Burlington, Mass.)
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Figure 31a. Multiple gastrointestinal stromal tumors in a 23-year-old woman with NF1 who presented with syncope from severe anemia. (a, b) Intravenous contrast-enhanced CT scans show a lobulated, proximal jejunal gastrointestinal stromal tumor (arrow in a) and two large gastrointestinal stromal tumors in the middle abdomen. There is a mixed solid and cystic gastrointestinal stromal tumor adjacent to a predominantly cystic gastrointestinal stromal tumor (* in b). (c) Photograph of the unopened, resected upper jejunum shows innumerable gastrointestinal stromal tumors extending through to the serosal surface of the jejunum.
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Figure 31b. Multiple gastrointestinal stromal tumors in a 23-year-old woman with NF1 who presented with syncope from severe anemia. (a, b) Intravenous contrast-enhanced CT scans show a lobulated, proximal jejunal gastrointestinal stromal tumor (arrow in a) and two large gastrointestinal stromal tumors in the middle abdomen. There is a mixed solid and cystic gastrointestinal stromal tumor adjacent to a predominantly cystic gastrointestinal stromal tumor (* in b). (c) Photograph of the unopened, resected upper jejunum shows innumerable gastrointestinal stromal tumors extending through to the serosal surface of the jejunum.
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Figure 31c. Multiple gastrointestinal stromal tumors in a 23-year-old woman with NF1 who presented with syncope from severe anemia. (a, b) Intravenous contrast-enhanced CT scans show a lobulated, proximal jejunal gastrointestinal stromal tumor (arrow in a) and two large gastrointestinal stromal tumors in the middle abdomen. There is a mixed solid and cystic gastrointestinal stromal tumor adjacent to a predominantly cystic gastrointestinal stromal tumor (* in b). (c) Photograph of the unopened, resected upper jejunum shows innumerable gastrointestinal stromal tumors extending through to the serosal surface of the jejunum.
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