Fumarat Hidrataz Eksikliği Gösteren Renal Hücreli Karsinom (FH RCC)
Özet
Mitokondriyal enzim olan fumarat hidratazın germline yada sporadik mutasyonu ile seyreden, genellikle agresif gidişli böbrek kanseridir. Germline mutasyonu herediter leiomyomatozis ve renal hücreli karsinom (HLRCC) ile ilişkilidir. Ancak FH RCC sıklıkla sporadik olarak da ortaya çıkar. Genellikle eozinofilik sitolojide tümör hücreleri papiller, kribriform, tübülokistik formasyon gösterirler. En önemli bulgu oldukça belirgin çekirdek ve çekirdek etrafında görülen halodur. Sık bilinen böbrek biomarkerları ile değişken ekspresyon gösterirler, ancak genellikle keratin 7 negatif, rasemaz pozitiftir. Tanı FH IHC kaybı ve 2-süksinil sistein (2SC) sitoplazmik+nükleer boyanması ile konur. Agresif seyreden tümörlerdir. Ancak çok nadir olarak düşük dereceli eozinofilik tümörler şeklinde morfolojiye sahip olabilirler.
Referanslar
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