Clinical management of three JMML siblings with germline CBL variation

Agaoglu N. B., Yalcın K., Unal B., Onder G., Celen S. S., Zhumatayev S., ...Daha Fazla

Cancer Genetics, cilt.292-293, ss.120-123, 2025 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 292-293
  • Basım Tarihi: 2025
  • Doi Numarası: 10.1016/j.cancergen.2025.02.007
  • Dergi Adı: Cancer Genetics
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database
  • Sayfa Sayıları: ss.120-123
  • Anahtar Kelimeler: CBL, Hematopoietic stem cell transplantation, Juvenile myelomonocytic leukemia
  • Acıbadem Mehmet Ali Aydınlar Üniversitesi Adresli: Evet

Özet

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.