Clinical management of three JMML siblings with germline CBL variation.
作者信息
Agaoglu Nihat Bugra, Yalcın Koray, Unal Busra, Onder Gizem, Celen Safiye Suna, Zhumatayev Suleimen, Ozbek Ugur, Ng Ozden Hatirnaz
机构信息
Department of Medical Genetics, Umraniye Training and Research Hospital, University of Health Sciences, Istanbul, Turkey; IKF-The Frankfurt Institute of Clinical Cancer Research, 60488 Frankfurt am Main, Germany.
Department of Pediatric Hematology Oncology, Bahcesehir University Medicalpark Goztepe Hospital, Istanbul, Turkey; Department of Medical Biotechnology, Institute of Health Science, Acibadem Mehmet Ali Aydınlar University, Istanbul, Turkey.
出版信息
Cancer Genet. 2025 Apr;292-293:120-123. doi: 10.1016/j.cancergen.2025.02.007. Epub 2025 Feb 19.
Germline pathogenic variants (PVs) in CBL are found in 15 % of juvenile myelomonocytic leukemia (JMML) cases. Here we report three siblings with CBL(NM_005188):c.1111T>C variation presenting a heterogenous JMML clinic and outcome. The index case was diagnosed at the age of seven, whereas the younger brother was 10 months old and the youngest was one month old. The hematopoietic stem cell transplantation was successful for the index and the youngest brother with event-free survival, but the middle brother showed severe graft versus host disease. This study shows the heterogeneity of JMML and how the outcome might differ even within the family.
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