Clinical management of three JMML siblings with germline CBL variation.

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Tác giả: Nihat Bugra Agaoglu, Safiye Suna Celen, Ozden Hatirnaz Ng, Gizem Onder, Ugur Ozbek, Busra Unal, Koray Yalcın, Suleimen Zhumatayev

Ngôn ngữ: eng

Ký hiệu phân loại:

Thông tin xuất bản: United States : Cancer genetics , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 733884

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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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