Blue rubber bleb nevus syndrome: novel lymphangiomatosis-like growth pattern within the uterus and immunohistochemical analysis

Patel, Rajal C.; Zynger, Debra L.; Laskin, William B.

doi:10.1016/j.humpath.2008.05.019

Cited by 13 publications

(4 citation statements)

References 12 publications

(19 reference statements)

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“…In the present study, none of the oral lymphangioma cases expressed WT1. Although a previous case of lymphangiomatosis-like growth affecting the uterine tissues showed similar findings (15), to the best of our knowledge this protein was not previously investigated in oral lymphangiomas. As negative labelling for WT1 is expected in sanguineous vascular malformation, but not in true neoplastic hemangiomas, the present findings are in accordance with the malformation of non-proliferative nature of oral lymphangiomas.…”

Section: Discussionsupporting

confidence: 62%

Wilms tumor 1 protein is not expressed in oral lymphangiomas

et al. 2012

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Lymphangiomas are benign hamartomatous lesions of lymphatic vessels. Wilms Tumor 1 (WT1) is a transcription factor that is activated in some human neoplasias. WT1 protein expression is observed in endothelial cells during angiogenesis and is a useful marker to distinguish between vascular proliferations and vascular malformations. The purpose of the present study is to report a case series of oral lymphangiomas together with an immunohistochemical investigation of WT1. Seventeen cases of oral lymphangioma were retrieved and reviewed. Immunohistochemical analysis of WT1 protein was performed and pyogenic granuloma samples were used as positive controls. The male/female ratio was 1.125 and most of the lesions occurred in young subjects. While pyogenic granuloma showed positive staining for WT1, the endothelial cells lining the thin-walled dilated lymphatic vessels of lymphangiomas were negative for this protein. The findings strengthen the idea that oral lymphangioma is a vascular malformation characterized by lymphatic dilatation without significant endothelial proliferation.

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Section: Discussionsupporting

confidence: 62%

Wilms tumor 1 protein is not expressed in oral lymphangiomas

et al. 2012

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“…3 A case report also described D2-40 immunopositivity in a uterine vascular lesion in BRBNS. 4 This lesion had a lymphangiomatosis-like growth pattern with dissecting vascular channels. Furthermore, the basement membrane underlying lesional endothelial cells was discontinuous, as highlighted by collagen type IV, which led the authors to hypothesize a lymphatic phenotype.…”

Section: Discussionmentioning

confidence: 98%

“…Furthermore, the basement membrane underlying lesional endothelial cells was discontinuous, as highlighted by collagen type IV, which led the authors to hypothesize a lymphatic phenotype. 4…”

Section: Discussionmentioning

confidence: 99%

“…The disorder is classified as a venous malformation by the International Society for the Study of Vascular Anomalies (ISSVA). 2 However, endothelial cells in the lesions often express 1 or more immunohistochemical markers of lymphatic differentiation, 3,4 which could cause confusion as another slow-flow vascular anomaly. We formally investigated the expression of 2 lymphatic endothelial markers (D2-40 and PROX1) in BRBNS lesions.…”

Section: Introductionmentioning

confidence: 99%

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Immunohistochemical Expression of Lymphatic Endothelial Markers in Blue Rubber Bleb Nevus Syndrome

Bakker,

Fishman,

Liang

et al. 2024

Pediatr Dev Pathol

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Introduction: Blue rubber bleb nevus syndrome (BRBNS) is an uncommon vascular anomaly characterized by multifocal cutaneous, visceral, and other soft tissue or solid organ venous malformations. We observed that BRBNS lesions express immunohistochemical markers of lymphatic differentiation. Methods: BRBNS histopathologic specimens assessed at our institution during the past 27 years were reviewed. Slides from 19 BRBNS lesions were selected from 14 patients (9 cutaneous, 9 gastrointestinal, and 1 hepatic). We recorded the involved anatomical compartments and presence/absence of thrombi or vascular smooth muscle. Immunohistochemical endothelial expression of PROX1 (nuclear) and D2-40 (membranous/cytoplasmic) was evaluated semi-quantitatively. Results: Endothelial PROX1 immunopositivity was noted in all specimens; the majority (89.5%) demonstrated staining in more than 10% of cells. D2-40 immunopositivity was present in one-third (33%) of cutaneous lesions and only 1 gastrointestinal lesion. Conclusion: Endothelial cells in BRBNS almost always express 1 or more immunohistochemical markers of lymphatic differentiation.

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The Major Categories of Mosaicism

Happle

Torrelo²

2022

Mosaicism in Human Skin

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Blue rubber bleb nevus syndrome: novel lymphangiomatosis-like growth pattern within the uterus and immunohistochemical analysis

Cited by 13 publications

References 12 publications

Wilms tumor 1 protein is not expressed in oral lymphangiomas

Wilms tumor 1 protein is not expressed in oral lymphangiomas

Immunohistochemical Expression of Lymphatic Endothelial Markers in Blue Rubber Bleb Nevus Syndrome

The Major Categories of Mosaicism

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