Rhabdomyosarcoma with bone marrow infiltration mimicking hematologic neoplasia [Infiltracija koštane srži stanicama rabdomiosarkoma]

Jelić-Puškarić, Biljana and Rajković-Molek, Koraljka and Raić, Ljubica and Batinić, Drago and Konja, Josip and Kardum-Skelin, Ika (2010) Rhabdomyosarcoma with bone marrow infiltration mimicking hematologic neoplasia [Infiltracija koštane srži stanicama rabdomiosarkoma]. Collegium Antropologicum, 34 (2). pp. 635-539. ISSN 0350-6134

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Abstract

Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children younger than 15 years. According to the World Health Organization, there are embryonal, alveolar and pleomorphic types of RMS. Most RMS patients present with a tumor mass in the head and neck region, urogenital tract or lower extremities. Unusual clinical presentation of the disease with massive bone marrow infiltration at the disease onset and mimicking hematologic neoplasm is rarely seen. A case is presented of a 14-year-old, previously healthy girl hospitalized for outpatiently detected leukocyte elevation. For the last two weeks, she had complained of fatigue, myalgia and frequent bruising. On admission, clinical examination revealed numerous petechiae and hematomas, enlarged left inguinal lymph node and palpable spleen 2 cm below left costal arch. Laboratory findings showed leukocytosis, anemia and thrombocytopenia. Bone marrow fine needle aspiration (FNA) produced a hypercellular bone marrow sample with suppression of all three hemocytopoiesis lines and bone marrow infiltration with numerous undifferentiated tumor cells. Considering the morphological, cytochemical and phenotypic characteristics, the cytologic diagnosis was: bone marrow infiltration with RMS cells. Abdominal computerized tomography revealed a primary tumor occupying the entire retropeoritoneal space. Tumor biopsy confirmed alveolar subtype of RMS. In conclusion, in cases of bone marrow infiltration with primitive, immature cells, RMS should be considered as differential diagnostic possibility. Adjuvant technologies (cytochemistry, immunocytochemistry, cytogenetic analysis, flow cytometry, and molecular analysis) can be very helpful in diagnostic work-up, and may lead to definitive diagnosis in some cases.

Abstract in Croatian

Rabdomiosarkom (RMS) je najčešći sarkom mekog tkiva u djece mlađe od 15 godina. Prema SZO razlikujemo: embrionalni, alveolarni te pleomorfni oblik RMS-a. Većina pacijenata s RMS-om prezentira se tumorskom masom u području glave i vrata, genitourinarnog trakta ili donjih ekstremiteta. Rijetko se vidi neobična klinička prezentacija bolesti s opsežnom infiltracijom koštane srži na početku bolesti i imitiranjem hematološke neoplazme. Prikazujemo slučaj četrnaestogodišnje, prethodno zdrave djevojčice, koja je hospitalizirana na klinici zbog ambulantno nađenih povišenih vrijednosti leukocita. Unazad dva tjedna žalila se na umor, bolove u mišićima, te učestalu pojavu modrica na koži. Kod prijema u kliničkom statusu nađe se dosta petehija te hematoma na koži, povećan limfni čvor ingvinalno lijevo, te palpabilna slezena 2 cm ispod lijevog rebrenog luka. U laboratorijskim nalazima prisutna leukocitoza, anemija i trombocitopenija. Punkcijom koštane srži dobije se hipercelularan uzorak koštane srži uz potisnute sve tri loze hemocitopoeze i infiltraciju koštane srži brojnim nezrelim tumorskim stanicama koje su citokemijski i imunocitokemijski pozitivne na PAS, vimentin i dezmin, a negativne na LCA, CD20, CD19, CD3, CD10, NSE, Ber EP 4, OIL RED i ANAE. Uzevši u obzir morfološke, citokemijske te fenotipske karakteristike mišljenje citologa je govorilo da se radi o infiltraciji koštane srži stanicama RMS-a. CT-om abdomena nađen je primarni tumor koji ispunjava čitav retroperitonealni prostor. Učinjena biopsija tumora je potvrdila da se radi o rabdomiosarkomu alveolarnog suptipa. Kod infiltracije koštane srži primitivnim, nezrelim stanicama diferencijalno dijagnostički treba razmišljati i o RMS-u pri čemu dodatne tehnologije (citokemija, imunocitokemija, citogenetska analiza, protočna citometrija, molekularna analiza) ne samo da mogu biti od pomoći već u nekim slučajevima dovode do definitvne dijagnoze.

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