Trikoblastom
Özet
Trikoblastom, kıl folikülü germinatif epiteli ve spesifik foliküler stromaya diferansiasyon gösteren, baş-boyun bölgesi başta olmak üzere yavaş büyüyen, iyi sınırlı ve benign bifazik bir deri tümörüdür. Dünya Sağlık Örgütü’nün 2018 sınıflamasına göre arkitektürel yapılarına bağlı olarak büyük/küçük nodüler, adamantinoid, retiform ve rasemiform gibi farklı histopatolojik varyantlara ayrılmaktadır. Genellikle sporadik olarak beşinci ve altıncı dekadda ortaya çıksa da Brooke-Spiegler ve multipl familyal trikoepitelyoma gibi sendromlarla ilişkili olgular puberte döneminde bilateral ve multipl lezyonlarla prezente olabilir. Mikroskobik incelemede epidermal bağlantı göstermeyen uniform bazaloid hücreler, periferal palizatlanma ve foliküler papillayı taklit eden papiller mezenkimal cisimcikler içeren fibromiksoid stroma karakteristiktir. İmmunohistokimyasal olarak CK6, CK14, CK19, Bcl-2 ve BerEP4 gibi belirteçlerle pozitiflik gösteren bu tümörün ayırıcı tanısında, benzer histopatolojik ve morfolojik örtüşmeler nedeniyle bazal hücreli karsinom (BHK) ilk sırada yer alır; ancak CD10, CD34 ve PHLDA1 gibi stromal ve foliküler kök hücre belirteçleri ile retraksiyon artefaktının olmaması BHK’den ayrımda kritik rol oynar. Genetik profilinde sporadik olgularda CTNNB1, HRAS ve PTCH1 mutasyonları görülürken, sendromik vakalar CYLD germ hattı mutasyonları ile ilişkilidir. Oldukça nadir görülen malign transformasyon durumlarında ise epitelyal atipi ve stromal pleomorfizm derecesine göre malign trikoblastom (trikoblastik karsinom), trikoblastik sarkom veya trikoblastik karsinosarkom gelişebilmektedir.
Trichoblastoma is a benign, slow-growing, well-circumscribed, and biphasic cutaneous neoplasm originating from the germinative hair follicle epithelium and specific follicular stroma, primarily localized in the head and neck region. According to the 2018 World Health Organization classification, it is categorized into various histopathological variants based on architectural patterns, including large/small nodular, adamantinoid, retiform, and racemiform. Although sporadic cases typically manifest during the fifth and sixth decades of life, syndromic presentations associated with Brooke-Spiegler syndrome and multiple familial trichoepithelioma present during puberty with bilateral, multiple facial lesions. Microscopically, it is characterized by deep dermal-subcutaneous basaloid cell proliferation showing peripheral palisading without epidermal connection, accompanied by a fibromyxoid stroma containing papillary mesenchymal bodies that mimic the follicular papilla. Immunohistochemically, it exhibits positive expression for CK6, CK14, CK19, Bcl-2, and BerEP4. Due to significant morphological overlaps, basal cell carcinoma (BCC) represents the primary differential diagnosis; however, the lack of retraction artifacts and the presence of stromal/follicular stem cell markers such as CD10, CD34, and PHLDA1 support a diagnosis of trichoblastoma. Mutational analyses reveal alterations in CTNNB1, HRAS, and PTCH1 genes in sporadic tumors, whereas syndromic cases are tightly linked to germline mutations in the CYLD gene. Malignant transformation remains exceedingly rare, giving rise to high-grade trichoblastic carcinoma, trichoblastic sarcoma, or trichoblastic carcinosarcoma depending on the degree of epithelial atypia and stromal pleomorphism.
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