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

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:...

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Published in:Pediatric and developmental pathology 2024-05, Vol.27 (3), p.228-234
Main Authors: Bakker, Andrea C., Fishman, Steven J., Liang, Marilyn G., Al-Ibraheemi, Alyaa, Kozakewich, Harry P., Mulliken, John B., Slack, Jonathan C.
Format: Article
Language:English
Subjects:
Adolescent
Antibodies, Monoclonal, Murine-Derived - metabolism
Biomarkers, Tumor - analysis
Biomarkers, Tumor - metabolism
Child
Child, Preschool
Endothelium, Lymphatic - metabolism
Endothelium, Lymphatic - pathology
Female
Gastrointestinal Neoplasms - diagnosis
Gastrointestinal Neoplasms - metabolism
Gastrointestinal Neoplasms - pathology
Homeodomain Proteins - metabolism
Humans
Immunohistochemistry
Infant
Male
Nevus, Blue - diagnosis
Nevus, Blue - metabolism
Nevus, Blue - pathology
Skin Neoplasms - diagnosis
Skin Neoplasms - metabolism
Skin Neoplasms - pathology
Tumor Suppressor Proteins - analysis
Tumor Suppressor Proteins - metabolism
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Summary: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.
ISSN:1093-5266
1615-5742
DOI:10.1177/10935266241228930