Recidivujúci multifokálny leiomyosarkóm močového mechúra 22 rokov po liečbe bilaterálneho (hereditárneho) retinoblastómu: popis prípadu a prehľad literatúry
Authors:
Švajdler M. Jr 1; L. Valanský 2; I. Andrašina 3; D. Ilenčíková 4; L. Copáková 5; B. Rychlý 6; B. Piačková 5
Authors‘ workplace:
Department of Pathology, Louis Pasteur University Hospital, Košice, Slovakia
1; Department of Urology, Louis Pasteur University Hospital, Košice, Slovakia
2; East Slovakia Oncology Institute, Košice, Slovakia
3; 2nd Department of Paediatrics, Comenius University Medical School, University Children’s Hospital, Bratislava
4; Department of Genetics, National cancer institute, Bratislava, Slovakia
5; Cytopathos s. r. o., Bratislava, Slovakia
6
Published in:
Čes.-slov. Patol., 48, 2012, No. 1, p. 44-48
Category:
Original Article
Overview
Popisujeme prípad leiomyosarkómu močového mechúra u 23 ročnej ženy, 22 rokov po liečbe bilaterálneho retinoblastómu. Nádor sa prezentoval dysúriou a makroskopickou hematúriou. Cystoskopicky bol zistený ulcerovaný nádor lokalizovaný v trigone. Následne bola vykonaná jeho transvezikálna resekcia. Osem mesiacov neskôr na inom mieste močového mechúra, vo vertexe, vznikol u pacientky druhý leiomyosarkóm. Bola vykonaná cystoskopická transuretrálna resekcia nádoru s následnou kombinovanou chemoterapiou. Po jednom roku sa objavila recidíva v mieste prvej resekcie. Bola vykonaná otvorená resekcia postihnutej steny mechúra. Dvadsať mesiacov po poslednej operácii je pacientka bez známok recidívy alebo metastáz. Molekulárnou analýzou periférnej krvi bola dokázná vzácna zárodočná bodová mutácia v intróne 24 RB1 génu. FISH analýza nádorového tkaniva dokázala polyploiditu nádorových buniek s relatívnou stratou lókusu RB1, indikujúc ,,second hit” deléciu a tým stratu funkcie druhej RB1 alely. Spolu s desiatimi doposiaľ popísanými prípadmi, náš prípad svedčí pre nenáhodnú asociáciu medzi hereditárnym retinoblastómom a leiomyosarkómom močového mechúra. Dôležitým rizikovým faktorom je pravdepodobne liečba cyklofosfamidom. U týchto pacientov je dôležité celoživotné sledovanie na výskyt sekundárnych malignít, vrátane leiomyosarkómu močového mechúra.
Kľúčové slová:
retinoblastóm – močový mechúr – leiomyosarkóm – sekundárna malignita – cyklofosfamid
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