Clinical Report: Acute Lymphoblastic Leukemia Associated with ETV6 c.744del Mutation

Overview

This report details a rare case of monozygotic twins who both developed acute lymphoblastic leukemia (ALL) linked to a novel germline ETV6 mutation. The findings highlight the genetic susceptibility associated with the ETV6:c.744del mutation and its implications for familial leukemia screening.

Background

Acute lymphoblastic leukemia (ALL) is the most common hematologic malignancy in children, with genetic factors playing an increasingly recognized role in its development. The occurrence of ALL in monozygotic twins is exceptionally rare, making this case significant for understanding hereditary predispositions to leukemia. Identifying germline mutations like ETV6 can aid in genetic counseling and early detection strategies for at-risk families.

Data Highlights

No numerical data available.

Key Findings

• Both twins were diagnosed with B-cell acute lymphoblastic leukemia (ALL-B).
• The elder twin achieved complete remission and has remained disease-free for 42 months.
• The younger twin relapsed during maintenance therapy and underwent allogeneic hematopoietic stem cell transplantation.
• The ETV6:c.744del mutation is a novel germline mutation not previously reported in literature.
• The family carries this mutation, indicating a potential hereditary risk for hematologic malignancies.
• Germline genetic testing is recommended for pediatric patients with familial clustering of leukemia.

Clinical Implications

This case underscores the importance of genetic screening for ETV6 mutations in pediatric patients with a family history of leukemia. Clinicians should consider germline testing to identify at-risk individuals and implement appropriate surveillance strategies.

Conclusion

The identification of the ETV6:c.744del mutation in these twins suggests a hereditary predisposition to ALL, emphasizing the need for genetic counseling and family screening in similar cases.

Related Resources & Content

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2. Frontiers in Pediatrics, 2026 -- The very rare association between T-cell acute lymphoblastic leukemia and down syndrome: a case report and review of the literature
3. Blood Cancer Journal, 2016 -- Genomic Characterization of Philadelphia Chromosome-Negative Acute Myeloid Leukemia in Patients with Chronic Myelogenous Leukemia
4. ETV6-Related Thrombocytopenia and Predisposition to Leukemia - GeneReviews® - NCBI Bookshelf
5. In Utero Development and Immunosurveillance of B Cell Acute Lymphoblastic Leukemia - PMC
6. Frontiers in Pediatrics — Case Report: Acute myeloid leukemia with mixed immunophenotypic features and TCF3::ZNF384 fusion in a pediatric patient with CNS involvement: a diagnostic and therapeutic challenge
7. ETV6-Related Thrombocytopenia and Predisposition to Leukemia - GeneReviews® - NCBI Bookshelf
8. In Utero Development and Immunosurveillance of B Cell Acute Lymphoblastic Leukemia - PMC
9. Diagnosis, prognostic factors, and assessment of ALL in adults: 2024 ELN recommendations from a European expert panel - PubMed
10. Blinatumomab in standard risk pediatric B-acute lymphoblastic leukemia - PMC
11. Results of the Simultaneous Combination of Ponatinib and Blinatumomab in Philadelphia Chromosome-Positive ALL | Journal of Clinical Oncology