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  • Synchronous presentation of ETV6::RUNX1 fusion positive concordant B-acute lymphoblastic leukaemia in identical twin toddlers

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Haematology
Synchronous presentation of ETV6::RUNX1 fusion positive concordant B-acute lymphoblastic leukaemia in identical twin toddlers
  1. Sanjeev Khera1,
  2. Arjun Kurup2,
  3. Samir Agarwal3 and
  4. Preeti Tripathi3
  1. 1Pediatrics, Army Hospital Research and Referral, New Delhi, Delhi, India
  2. 2Pediatrics, Military Hospital Patiala, Patiala, Punjab, India
  3. 3Pathology, Army Hospital Research & Referral, New Delhi, Delhi, India
  1. Correspondence to Dr Sanjeev Khera; kherakherakhera{at}gmail.com

Abstract

Concordant leukaemia in identical twins is rare. The likelihood of concordance of leukaemia in twins is near 100% in infancy, around 10% from 1 to 6 years of age, and rare at a later age with variable latency. Reporting of new cases of concordant leukaemia in twins is encouraged to contribute to data pool of this infrequent but exceptional condition; especially when the theories with respect to evolution, natural history and molecular evidence explaining concordant leukaemia in identical twins are still evolving.

We discuss identical pair of monochorionic twin toddlers who were detected to have pallor and blood investigations revealed pancytopenia. Further work up including bone marrow studies revealed synchronous diagnosis of B-acute lymphoblastic leukaemia (B-ALL) with ETV6::RUNX1 fusion. Synchronous presentation of concordant leukaemia in identical twins is extremely rare. Index twins are the only second set of twins and first one beyond infantile age with synchronous presentation of B-ALL.

  • Genetic screening / counselling
  • Malignant and benign haematology
  • Paediatric oncology
  • Prevention
  • Screening (oncology)

http://dx.doi.org/10.1136/bcr-2023-257139

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    Footnotes

    • Contributors SK was involved with the conceptualisation, diagnosis, clinical care, management and final manuscript writing. AK, SA and PT were involved in clinical care, diagnosis and management of patient. All authors were responsible for drafting of the text, sourcing and editing of clinical images, investigation results and critical revision for important intellectual content. All authors were accountable for the content of article and ensure that all questions regarding the accuracy or integrity of the article are investigated and resolved. All authors have given final approval for article.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.