Primary alveolar rhabdomyosarcoma of the bone: two cases and review of the literature

• Published in: Diagnostic pathology Vol. 11; no. 1; p. 99
• Main Authors: Balogh, Petra, Bánusz, Rita, Csóka, Monika, Váradi, Zsófia, Varga, Edit, Sápi, Zoltán
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 18.10.2016; BioMed Central
• Subjects: Antineoplastic Combined Chemotherapy Protocols - therapeutic use; Biomarkers, Tumor - analysis; Biomarkers, Tumor - genetics; Biopsy; Bone marrow; Bone Neoplasms - chemistry; Bone Neoplasms - drug therapy; Bone Neoplasms - genetics; Bone Neoplasms - pathology; Care and treatment; Case Report; Chemotherapy; Child; Children; Diagnosis; Disease; Disease Progression; Family medical history; Fatal Outcome; Forkhead Box Protein O1 - genetics; Genes; Health aspects; Hematology; Humans; Immunohistochemistry; In Situ Hybridization, Fluorescence; Lymphoma; Magnetic Resonance Imaging; Male; Management; Medical prognosis; Morphology; Myogenin - analysis; Pediatrics; Predictive Value of Tests; Rhabdomyosarcoma; Rhabdomyosarcoma, Alveolar - chemistry; Rhabdomyosarcoma, Alveolar - drug therapy; Rhabdomyosarcoma, Alveolar - genetics; Rhabdomyosarcoma, Alveolar - secondary; Stem cells; Time Factors; Treatment Outcome; Alveolar rhabdomyosarcoma of bone; FOXO-1; Clinico-pathological entity
• ISSN: 1746-1596; 1746-1596
• DOI: 10.1186/s13000-016-0552-9

Rhabdomyosarcoma (RMS) is a malignant tumor of mesenchymal origin and comprises the largest category of soft-tissue sarcomas both in children and adolescents. From a pediatric oncology point of view, RMS has traditionally been classified into alveolar (ARMS) and embryonal (ERMS) subtypes. The anatomical localization of the tumor may vary, but commonly involve the head/neck regions, male and female urogenital tract or the trunk and extremities. Here, we report two challenging cases involving 17- and 9-years-olds males where diffuse and multiplex bone lesions suggested either a hematological disease or a primary bone tumor (mesenchymal chondrosarcoma). Biopsies, proved a massive infiltration of the bone marrow cavity with rhabdomyosarcoma. In both cases, the ARMS subtype was confirmed using FOXO1 break-apart probes (FISH). Radiological examination could not identify primary soft tissue component in any localization at the time of diagnosis in either cases. Primary alveolar rhabdomyosarcoma of the bone as a subtype of ARMS, seems to be a distinct clinico-pathological entity with challenging diagnostic difficulties and different, yet better, biological behavior in comparison to soft tissue ARMS. However, it is difficult to be characterized or predict its prognosis and long-term survival as only sporadic cases (four) were reported so far.