Ann Lab Med 2018; 38(2): 132-138
Clinical and Cytogenetic Profiles of Rhabdomyosarcoma with Bone Marrow Involvement in Korean Children: A 15-Year Single-Institution Experience
Dong-Hyun Lee, M.D.1, Chan-Jeoung Park, Ph.D.2, Seongsoo Jang, Ph.D.2, Young-Uk Cho, Ph.D.2, Jong Jin Seo, Ph.D.3, Ho Joon Im, Ph.D.3, Kyung-Nam Koh, Ph.D.3, Kyung Ja Cho, Ph.D.4, Joon Seon Song, Ph.D.4, and Eul-Ju Seo, Ph.D.2
Department of Laboratory Medicine1, Gyeongsang National University Hospital, Jinju; Department of Laboratory Medicine2, University of Ulsan College of Medicine and Asan Medical Center, Seoul; Department of Pediatrics3, University of Ulsan College of Medicine and Asan Medical Center, Seoul; Department of Pathology4, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea
Corresponding author: Eul-Ju Seo
Departments of Laboratory Medicine, University of Ulsan College of Medicine and Asan Medical Center, 88 Olympic-ro 43-gil, Songpa-gu, Seoul 05505, Korea
Tel: +82-2-3010-4507
Fax: +82-2-478-0884
Received: July 5, 2017; Revised: August 17, 2017; Accepted: November 9, 2017; Published online: March 1, 2018.
© Korean Society for Laboratory Medicine. All rights reserved.

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Background: 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 compared with embryonal RMS (ERMS). Because the chromosomal features of RMS have not been comprehensively defined, we analyzed the clinical and laboratory data of childhood RMS patients and determined the clinical significance of chromosomal abnormalities in the bone marrow.
Methods: Fifty-one Korean patients with RMS 〈 18 years of age treated between 2001 and 2015 were enrolled in this study. Clinical factors, bone marrow and cytogenetic results, and overall survival (OS) were analyzed.
Results: In total, 36 patients (70.6%) had ERMS and 15 (29.4%) had ARMS; 80% of the ARMS patients had stage IV disease. The incidences of bone and bone marrow metastases were 21.6% and 19.6%, respectively, and these results were higher than previously reported results. Of the 40 patients who underwent bone marrow cytogenetic investigation, five patients had chromosomal abnormalities associated with the 13q14 rearrangement. Patients with a chromosomal abnormality (15 vs 61 months, P=0.037) and bone marrow involvement (17 vs 61 months, P=0.033) had a significantly shorter median OS than those without such characteristics. Two novel rearrangements associated with the 13q14 locus were detected. One patient with concomitant MYCN amplification and PAX3/FOXO1 fusion showed an aggressive clinical course.
Conclusions: 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.
Keywords: Rhabdomyosarcoma, Chromosomal abnormality, Bone marrow, Survival, FOXO1 gene

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