Hemanjiyoendotelyoma
Özet
Epiteloid hemanjiyoendotelyoma (EHE), milyonda bir görülme sıklığıyla kadınlarda dört kat daha yaygın olan, endotelyal özellikli nadir bir vasküler tümördür. En sık otuz altı yaş civarında teşhis edilen bu heterojen hastalık, %30 oranında akciğer kaynaklı olmakla birlikte karaciğer, kemik ve yumuşak dokular gibi farklı anatomik bölgelerde de multifokal yerleşim gösterebilir. Genellikle rastlantısal radyolojik nodüllerle fark edilir; ancak tümörün yerleştiğine bağlı olarak ağrı, solunum sıkıntıları, kilo kaybı veya kortikal kemik tutulumlarında patolojik kırıklar ile nörolojik kayıplara yol açabilir. Histopatolojik olarak, hyalinize veya miksoid stromada eozinofilik ve vakuollü atipik hücre kordları, CD31 ve ERG gibi vasküler belirteçlerin pozitifliği ve vakaların %90'ında görülen WWTR1-CAMTA1 gen füzyonu ile karakterizedir. Klinik yaklaşımda, lokalize tümörlerde ana hedef negatif sınırlarla cerrahi rezeksiyon iken, yaygın metastatik ya da plevral hastalıklarda sitotoksik kemoterapi, pazopanib gibi antianjiyojenik ajanlar ve sirolimus gibi mTOR inhibitörleri tercih edilmektedir. Ayrıca, akciğer dışı lokalizasyonlarda radyoterapi lokal ağrı kontrolünde etkili bir rol oynar.
Epithelioid hemangioendothelioma (EHE) is an ultra-rare vascular neoplasm with an incidence of approximately one in a million, occurring four times more frequently in women. Most commonly diagnosed at a median age of thirty-six, this clinically heterogeneous tumor originates in the lungs in 30% of cases but can involve the liver, bone, and multiple organs. While frequently detected incidentally as pulmonary nodules, clinical symptoms reflect the tumor site; patients may present with pain, respiratory issues, systemic weight loss, or severe pathological fractures and neurological deficits due to bone affinity. Histologically, it features atypical epithelioid endothelial cells arranged in cords within a hyalinized or myxoid stroma, showing vascular markers like CD31 and ERG. Crucially, 90% of tumors harbor the WWTR1-CAMTA1 gene fusion, which drives the MAPK pathway. The standard therapeutic approach mandates complete surgical resection for localized tumors to achieve cure. Conversely, for advanced metastatic or unresectable pleural disease, systemic options include cytotoxic chemotherapy, targeted anti-angiogenic agents like pazopanib, or mTOR inhibitors such as sirolimus, complemented by radiotherapy for effective local pain palliation.
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