Objective:

To report a rare clinical case of monozygotic twins with germline ETV6 mutations who developed acute lymphoblastic leukemia (ALL-B).

Approach:

Key Findings:

• Both twins were diagnosed with B-cell ALL and carried the ETV6:c.744del mutation, with the younger twin also having somatic NF1 and KRAS mutations.
• 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, achieving remission.

Interpretation:

The occurrence of ALL-B in both twins suggests a genetic susceptibility linked to the ETV6:c.744del mutation, highlighting the need for further research into genetic factors in leukemia.

Limitations:

• The study is based on a single case, limiting generalizability and potential biases.
• The rarity of the mutation may hinder further comparative studies.

Conclusion:

The ETV6:c.744del mutation may be a driving factor for leukemia in these twins, underscoring the critical need for genetic testing in families with leukemia clustering.

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