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Familial Patterns in Acute Lymphoblastic Leukemia: Lessons From Three Siblings
Alireza Khanahmad1,2, Mohammad Hossein Khazaee-Nasirabadi2, Naeem Nikpour3
1Student Research Committee, Afzalipour Faculty of Medicine Kerman University of Medical Sciences Kerman Iran.
Clinical Case Reports
|October 7, 2025
Summary
Familial acute lymphoblastic leukemia (ALL) in three siblings suggests germline mutations may play a role. Monosomy 20 was identified as a potential marker in this rare familial B-ALL case.
Area of Science:
- Hematology
- Genetics
- Oncology
Background:
- Acute lymphoblastic leukemia (ALL) is typically sporadic, with familial cases accounting for less than 5%.
- Germline mutations are rarely implicated in the pathogenesis of familial ALL.
Purpose of the Study:
- To investigate the clinical, genetic, treatment, and pathologic features of three siblings diagnosed with precursor B acute lymphoblastic leukemia.
- To explore the potential role of germline mutations and cytogenetic abnormalities in familial B-ALL.
Main Methods:
- Case series presentation of three siblings with precursor B acute lymphoblastic leukemia.
- Clinical, genetic, pathological, and treatment data were collected and analyzed.
- Cytogenetic analysis and human leukocyte antigen (HLA) matching were performed.
Main Results:
- Three siblings presented with precursor B acute lymphoblastic leukemia, with two experiencing relapses.
- Shared recurrent cytogenetic abnormalities, including monosomy 20, were identified in two cases, suggesting it as a potential susceptibility marker.
- HLA-matched sibling stem cell transplantation was performed for one patient, leading to complete remission for all three siblings.
Conclusions:
- The findings suggest a potential involvement of germline mutations in the pathogenesis of familial B-ALL.
- Monosomy 20 may be a susceptible marker in familial B-ALL.
- Genetic counseling and germline testing are recommended for familial ALL cases, with cautious consideration of related donors.
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