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Clinical Management of Three JMML Siblings with Germline CBL Variation
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  • Nihat Bugra Agaoglu,
  • Koray Yalcin,
  • Busra Unal,
  • Gizem Senturk,
  • Suna Çelen,
  • Suleimen Zhumatayev,
  • Ugur Ozbek,
  • Ozden Hatirnaz Ng
Nihat Bugra Agaoglu
Umraniye Egitim Ve Arastirma Hastanesi
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Koray Yalcin
Bahcesehir University Medicalpark Goztepe Hospital
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Busra Unal
Umraniye Egitim Ve Arastirma Hastanesi
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Gizem Senturk
Acibadem Universitesi
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Suna Çelen
Bahcesehir University Medicalpark Goztepe Hospital
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Suleimen Zhumatayev
Bahcesehir University Medicalpark Goztepe Hospital
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Ugur Ozbek
Izmir Biyotip ve Genom Merkezi
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Ozden Hatirnaz Ng
Acibadem Universitesi

Corresponding Author:[email protected]

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Abstract

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.