Related Experiment Video

Updated: May 24, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Clinical management of three JMML siblings with germline CBL variation

Nihat Bugra Agaoglu1, Koray Yalcın2, Busra Unal3

  • 1Department 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.

Cancer Genetics
|February 28, 2025
PubMed

Insights

Germline CBL gene variants cause juvenile myelomonocytic leukemia (JMML). This study highlights varied clinical presentations and outcomes in three siblings with a specific CBL variant, even after hematopoietic stem cell transplantation.

Area of Science:

  • Genetics
  • Hematology
  • Pediatric Oncology

Background:

  • Germline pathogenic variants (PVs) in the CBL gene are identified in approximately 15% of juvenile myelomonocytic leukemia (JMML) cases.
  • JMML is a rare and aggressive childhood leukemia.
  • Understanding the genetic basis of JMML is crucial for diagnosis and treatment.

Keywords:
CBLHematopoietic stem cell transplantationJuvenile myelomonocytic leukemia

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