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Nihat Bugra Agaoglu
Nihat Bugra Agaoglu

Public Documents 1
Clinical Management of Three JMML Siblings with Germline CBL Variation
Nihat Bugra Agaoglu
Koray Yalcin

Nihat Bugra Agaoglu

and 7 more

August 27, 2024
Germline pathogenic variants (PVs) in CBL is found in 15% of juvenile myelomonocytic leukemia (JMML) cases. Here we report siblings with CBL variations 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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