Elevated expression of c-kit in small venous malformations of blue rubber bleb nevus syndrome

Mogler, Carolin; Beck, Christian; Kulozik, Andreas E.; Penzel, Roland; Schirmacher, Peter; Breuhahn, Kai

doi:10.4081/rt.2010.e36

Cited by 29 publications

(24 citation statements)

References 16 publications

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“…[ 5 ] The etiology and pathogenesis of this syndrome remained unknown; locus on chromosome 9P, elevated c-kit expression may be involved on molecular and genetic level. [ 6 ] Although an autosomal dominant inheritance had been described in several familial cases, the majority of the cases appeared to be sporadic [ 7 ] ; no family history of BRBNS was found in our group also. The venous malformations were primarily located on the skin and GI tract.…”

Section: Discussionmentioning

confidence: 50%

Blue rubber bleb nevus syndrome

Chen

Guo

et al. 2017

Medicine

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The aim of our study is to enhance the awareness of blue rubber bleb nevus syndrome (BRBNS) through the patients in our hospital and introduced a new measure of endoscopic intervention.A retrospective review of 5 patients, who were diagnosed as BRBNS in our hospital from January 2013 to January 2017, was conducted. Data were collected with regard to demographics, clinical presentation, endoscopic and imaging findings, management, and follow-up data.In total of 5 patients, the mean age was 28.8 years, range 16 to 44 years (male/female, 1/4) with the average initial age of onset 15.4 years. No family history was identified in our group. Physical examination showed multiple cutaneous lesions in 2 patients (40%, 2/5). All the 5 patients had gastrointestinal tract vascular malformations; stomach involved in 2 cases, large intestine in 2 cases, and small intestine involved in 3 cases. Lesions in the visceral organs and tissue were found in 1 patient. Gastrointestinal bleeding was its main symptom (3/5, 60%). Laboratory investigations revealed anemia in 4 patients and abnormality of coagulopathy in 2 patients with severe anemia. Conservative approach was recommended in 3 cases that included iron supplementation, drug hemostasis, and/or blood transfusion. An innovatively therapeutic approach with endoscopic submucosal dissection (ESD) procedure was used successfully in 1 patient with 2 polypoid BRBNS lesions in rectum.BRBNS is a very rare vascular malformation syndrome with unclear etiopathogenesis and noncurative treatments. ESD procedure was a feasible approach to remove the partial gastrointestinal lesions.

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Section: Discussionmentioning

confidence: 50%

Blue rubber bleb nevus syndrome

Chen

Guo

et al. 2017

Medicine

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“…Elevated expression of c-KIT has also been found in small venous malformations in the blue rubber bleb nevus syndrome. 12 Mutations in KIT occur in germline or somatic configuration. Germline mutations of exons 11, 13, and 17 of the KIT gene are frequently reported in familial and multiple GIST, 13 familial mastocytosis, 14 and aggressive fibromatosis.…”

Section: Discussionmentioning

confidence: 99%

Imatinib Treatment of Lymphangiomatosis (Generalized Lymphatic Anomaly)

Libby

Narula

Fernandes

et al. 2016

J Natl Compr Canc Netw

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Lymphangiomatosis (eg, generalized lymphatic anomaly) is an abnormal proliferation of lymphatic endothelial cells. It is often a childhood disease, but it may present in adulthood by infiltrating organs and cause obstruction, bleeding, or disruption of lymphatic flow. Pulmonary involvement may be mild or cause diffuse interstitial lung disease, airway obstruction, hemoptysis, chylothorax, chylopericardium, and culminate in respiratory failure. Treatment has been limited to surgical resection or drainage procedures because there is no accepted effective systemic therapy. This report presents a patient with lymphangiomatosis and life-threatening hemoptysis in whom positive immunostaining forc-KITsuggested upregulation of tyrosine kinase and whose disease was controlled with imatinib.

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“…While autosomal dominant inheritance has been reported, most cases of BRBNS occur spontaneously, as in the present case. The pathogenesis of BRBNS remains unclear; however, it has been suggested that a locus on chromosome 9P responsible for venous malformation and elevated c-kit expression may be involved [ 8 , 9 ]. Although BRBNS is an uncommon syndrome, physical examination of the patient, GI imaging tests, and circumstantial questioning can help make a diagnosis.…”

Section: Discussionmentioning

confidence: 99%

Blue Rubber Bleb Nevus Syndrome Showing Vascular Skin Lesions Predominantly on the Face

et al. 2015

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An 81-year-old Japanese man presented with dark blue papules and nodules on his face. There were multiple soft papules and nodules, dark blue in color, compressive, and ranging in size from 2 to 10 mm. A few similar lesions were seen on the patient's right dorsal second toe and right buccal mucosa. There were no skin lesions on his trunk and upper limbs. The patient's past history did not include gastrointestinal bleeding or anemia. Histopathological examination showed dilated vascular spaces lined by the normal epithelium extending beneath the dermis and into the subcutaneous fat. Endoscopy of the gastrointestinal tract to check for colon involvement was not performed. X-ray images of the limbs revealed no abnormalities in the bones or joints. Laboratory investigations did not show anemia. Although we failed to confirm a diagnosis by endoscopy, the skin lesions, histopathological findings, lack of abnormal X-ray findings, and the presence of oral lesions as a part of gastrointestinal tract guided the diagnosis of blue rubber bleb nevus syndrome (BRBNS). Skin lesions of BRBNS occur predominantly on the trunk and upper limbs. However, the present case showed multiple skin lesions predominantly on the face. Therefore, it is important for clinicians to know about a possible atypical distribution of skin lesions in BRBNS.

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Elevated expression of c-kit in small venous malformations of blue rubber bleb nevus syndrome

Cited by 29 publications

References 16 publications

Blue rubber bleb nevus syndrome

Blue rubber bleb nevus syndrome

Imatinib Treatment of Lymphangiomatosis (Generalized Lymphatic Anomaly)

Blue Rubber Bleb Nevus Syndrome Showing Vascular Skin Lesions Predominantly on the Face

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