515P - Clinical significance of bone marrow chromosomal analysis in rhabdomyosarcoma

Date 18 December 2016
Event ESMO Asia 2016 Congress
Session Poster lunch
Topics Soft Tissue Sarcomas
Translational Research
Presenter Donghyun Lee
Citation Annals of Oncology (2016) 27 (suppl_9): ix163-ix168. 10.1093/annonc/mdw597
Authors D. Lee1, M. Bae2, E. Seo3
  • 1Laboratory Medicine, Gyeongsang National University Hospital and Gyeongsang National University School of Medicine, 52727 - Jinju/KR
  • 2Laboratory Medicine, Myongji hospital, 10475 - Goyang/KR
  • 3Laboratory Medicine, Asan Medical Center, University of Ulsan College of Medicine, 138-736 - Seoul/KR



Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children. Alveolar RMS (ARMS) is characterized by FOXO1-related chromosomal translocations that result in a poorer clinical outcome than embryonal RMS (ERMS). Because the chromosomal features of RMS have rarely been described, we analyzed the clinical and laboratory data of childhood RMS patients and determined the clinical significance of chromosomal abnormalities in the bone marrow.


From 2001 to 2015, 51 Korean patients with RMS younger than 18 years were enrolled. We analyzed clinical factors, bone marrow and cytogenetic results, and overall survival (OS).


In total, 36 patients (70.6%) had ERMS and 15 (29.4%) had ARMS; 80% of ARMS patients had stage IV disease. The incidences of bone and bone marrow metastases were higher than previously reported. Five patients had a chromosomal abnormality, all associated with 13q14 rearrangement. Patients with chromosomal abnormality and bone marrow involvement had a significantly shorter median OS than those without such characteristics. Stage IV disease was associated with significantly lower OS in multivariate analysis (hazard ratio, 34.21; 95% confidence interval, 4.36–268.58; p = 0.001). We detected two novel rearrangements associated with the 13q14 locus. One patient with coexistance of the MYCN amplification and PAX3/FOXO1 fusion showed an aggressive clinical course.


A comprehensive approach involving conventional cytogenetics and FOXO1 FISH of the bone marrow is needed to assess high-risk ARMS patients and identify novel cytogenetic findings.

Clinical trial indentification

Legal entity responsible for the study

Asan Medical Center




All authors have declared no conflicts of interest.