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Cowden syndrome with multiple venous malformations in the small bowel
AT THE FOCAL POINT Massimo Raimondo, MD, Associate Editor for Focal Points
Cowden syndrome with multiple venous malformations in the small bowel
A 65-year-old woman with a family history of genetically diagnosed Cowden syndrome (CS) with a mutation at the phosphatase and tensin homolog gene (PTEN) was admitted to the hospital because of hematochezia and severe anemia (hemoglobin level, 2.6 g/dL). The patient showed macrocephaly and acral keratosis. She had previously undergone total colectomy for polyposis and surgical resections for breast and thyroid cancers. An EGD revealed esophageal glycogenic acanthosis and gastroduodenal diminutive hamartomatous polyposis. A CT scan depicted multiple well-circumscribed tumors in the small bowel, which were enhanced with contrast medium (A). Small-bowel radiography showed multiple polypoid lesions with smooth surfaces. Capsule endoscopy and peroral double-balloon endoscopy revealed multiple soft, dark-blue submucosal tumors in the jejunum and ileum (B, C, D). A round and hemispherical configuration www.giejournal.org
without any pulsation in each protrusion strongly suggested a diagnosis of venous malformations (VMs) rather than arteriovenous malformations. Although these VMs were considered to be the cause of her anemia, no active bleeding was seen at the time of examinations. We, therefore, treated the patient with a blood transfusion and carefully followed her up with a low-residue diet. She has not manifested anemia during 6 months of follow-up. Although arteriovenous malformation often occurs in patients with CS, VM in the small bowel has not been previously reported.
DISCLOSURE All authors disclosed no financial relationships relevant to this publication. Volume
-,
No.
-
: 2016 GASTROINTESTINAL ENDOSCOPY 1
At the Focal Point
Yosuke Toya, MD, PhD, Shotaro Nakamura, MD, PhD, Satoko Yamaguchi, MD, Shunichi Yanai, MD, PhD, Keisuke Kawasaki, MD, Takayuki Matsumoto, MD, PhD, Division of Gastroenterology, Department of Internal
Medicine, School of Medicine, Iwate Medical University, Morioka, Japan http://dx.doi.org/10.1016/j.gie.2016.01.056
Commentary Cowden syndrome is a rare disorder that is estimated to affect 1 in 200,000 people. The disease results from an inherited or sporadic mutation in the PTEN gene. PTEN is a tumor suppressor protein acting in the phosphatidylinositol 3-kinase/protein kinase-B/mammalian target of rapamycin pathway of growth factor receptor tyrosine kinases. The absence of this protein results in unregulated tissue growth, leading to increased risk of benign and malignant tumors, most commonly in the breast, thyroid, kidney, endometrium, and colorectum. In addition, nonmalignant lesions occurring in these patients include macrocephaly, fibrocystic breast disease, fibromas, lipomas, hamartomatous intestinal polyps, pathognomonic mucocutaneous lesions such as acral keratosis, and vascular malformations. The patient in this case exhibited many of these features, sufficient for establishing a clinical diagnosis of CS. The most notable GI condition related to CS is hyperplastic, adenomatous, or hamartomatous polyposis. Vascular malformations of the GI tract were of special interest in the presented case. Although vascular malformations can occur in any organ system in CS, they have not been reported in the GI tract, as noted by the authors. Therefore, management guidelines for these lesions have not been defined. In general, treatment of bleeding vascular malformations of the GI tract is warranted, particularly in anemic patients, and can be accomplished endoscopically, surgically, angiographically, or conservatively with iron replacement or blood transfusions. Endoscopic treatments are preferred and include argon plasma coagulation, electrocoagulation, and mechanical hemostasis. The option to treat endoscopically and the type of endoscopic treatment depend on lesion size, number, location, and accessibility and on physician experience, whereas hemodynamically significant hemorrhage usually requires surgery or angiography. Angiography is usually reserved for patients who are unable to tolerate surgery. In the case presented, management was particularly difficult because of widespread numerous large lesions that have not been previously described in the literature and that were not amenable to endoscopic treatment despite severe anemia. The case is further complicated by a history of colectomy for polyposis, making an eventual decision for surgery difficult because long-segment small-bowel resection would lead to short-bowel syndrome. Another concern to keep in mind is the chance of recurrence if these lesions had been treated. Therefore, their decision to treat conservatively with transfusion was reasonable. Reza Milano Senior Medical Student San Raffaele Hospital, Milan, Italy Massimo Raimondo, MD Associate Editor for Focal Points
2 GASTROINTESTINAL ENDOSCOPY Volume
-,
No.
-
: 2016
www.giejournal.org
Cowden syndrome with multiple venous malformations in the small bowel
A 65-year-old woman with a family history of genetically diagnosed Cowden syndrome (CS) with a mutation at the phosphatase and tensin homolog gene (PTEN) was admitted to the hospital because of hematochezia and severe anemia (hemoglobin level, 2.6 g/dL). The patient showed macrocephaly and acral keratosis. She had previously undergone total colectomy for polyposis and surgical resections for breast and thyroid cancers. An EGD revealed esophageal glycogenic acanthosis and gastroduodenal diminutive hamartomatous polyposis. A CT scan depicted multiple well-circumscribed tumors in the small bowel, which were enhanced with contrast medium (A). Small-bowel radiography showed multiple polypoid lesions with smooth surfaces. Capsule endoscopy and peroral double-balloon endoscopy revealed multiple soft, dark-blue submucosal tumors in the jejunum and ileum (B, C, D). A round and hemispherical configuration www.giejournal.org
without any pulsation in each protrusion strongly suggested a diagnosis of venous malformations (VMs) rather than arteriovenous malformations. Although these VMs were considered to be the cause of her anemia, no active bleeding was seen at the time of examinations. We, therefore, treated the patient with a blood transfusion and carefully followed her up with a low-residue diet. She has not manifested anemia during 6 months of follow-up. Although arteriovenous malformation often occurs in patients with CS, VM in the small bowel has not been previously reported.
DISCLOSURE All authors disclosed no financial relationships relevant to this publication. Volume
-,
No.
-
: 2016 GASTROINTESTINAL ENDOSCOPY 1
At the Focal Point
Yosuke Toya, MD, PhD, Shotaro Nakamura, MD, PhD, Satoko Yamaguchi, MD, Shunichi Yanai, MD, PhD, Keisuke Kawasaki, MD, Takayuki Matsumoto, MD, PhD, Division of Gastroenterology, Department of Internal
Medicine, School of Medicine, Iwate Medical University, Morioka, Japan http://dx.doi.org/10.1016/j.gie.2016.01.056
Commentary Cowden syndrome is a rare disorder that is estimated to affect 1 in 200,000 people. The disease results from an inherited or sporadic mutation in the PTEN gene. PTEN is a tumor suppressor protein acting in the phosphatidylinositol 3-kinase/protein kinase-B/mammalian target of rapamycin pathway of growth factor receptor tyrosine kinases. The absence of this protein results in unregulated tissue growth, leading to increased risk of benign and malignant tumors, most commonly in the breast, thyroid, kidney, endometrium, and colorectum. In addition, nonmalignant lesions occurring in these patients include macrocephaly, fibrocystic breast disease, fibromas, lipomas, hamartomatous intestinal polyps, pathognomonic mucocutaneous lesions such as acral keratosis, and vascular malformations. The patient in this case exhibited many of these features, sufficient for establishing a clinical diagnosis of CS. The most notable GI condition related to CS is hyperplastic, adenomatous, or hamartomatous polyposis. Vascular malformations of the GI tract were of special interest in the presented case. Although vascular malformations can occur in any organ system in CS, they have not been reported in the GI tract, as noted by the authors. Therefore, management guidelines for these lesions have not been defined. In general, treatment of bleeding vascular malformations of the GI tract is warranted, particularly in anemic patients, and can be accomplished endoscopically, surgically, angiographically, or conservatively with iron replacement or blood transfusions. Endoscopic treatments are preferred and include argon plasma coagulation, electrocoagulation, and mechanical hemostasis. The option to treat endoscopically and the type of endoscopic treatment depend on lesion size, number, location, and accessibility and on physician experience, whereas hemodynamically significant hemorrhage usually requires surgery or angiography. Angiography is usually reserved for patients who are unable to tolerate surgery. In the case presented, management was particularly difficult because of widespread numerous large lesions that have not been previously described in the literature and that were not amenable to endoscopic treatment despite severe anemia. The case is further complicated by a history of colectomy for polyposis, making an eventual decision for surgery difficult because long-segment small-bowel resection would lead to short-bowel syndrome. Another concern to keep in mind is the chance of recurrence if these lesions had been treated. Therefore, their decision to treat conservatively with transfusion was reasonable. Reza Milano Senior Medical Student San Raffaele Hospital, Milan, Italy Massimo Raimondo, MD Associate Editor for Focal Points
2 GASTROINTESTINAL ENDOSCOPY Volume
-,
No.
-
: 2016
www.giejournal.org