What question did this study set out to answer?

This study aims to describe a rare case of T-cell acute lymphoblastic leukemia (T-ALL) in a child with Down syndrome and explore its genetic characteristics.

May 22, 2026Frontiers in PediatricsOpen Access

The very rare association between T-cell acute lymphoblastic leukemia and down syndrome: a case report and review of the literature

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Authors

GGGiacomo GottiIstituti di Ricovero e Cura a Carattere Scientifico LBLaura Rachele BettiniAzienda Ospedaliera San Gerardo SRStefano Rebellato

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Case report highlights T-cell acute lymphoblastic leukemia in a Down syndrome child, suggesting need for tailored treatment strategies.

Key Points

This study aims to describe a rare case of T-cell acute lymphoblastic leukemia (T-ALL) in a child with Down syndrome and explore its genetic characteristics.
Case report of a 7-year-old boy with Down syndrome diagnosed with T-ALL.
Genetic analysis included karyotyping, RNA sequencing, and next-generation sequencing for somatic mutations.
Chemotherapy treatment followed AIEOP-BFM ALL 2017 protocols with modifications due to complications.
The patient's genetic analysis revealed a complex karyotype with translocation t(1;14)(p32;q11) and deletion of chromosome 9p.
Somatic mutations in NOTCH1 and FBXW7 were identified, indicating a distinct leukemogenic pathway.
The patient achieved minimal residual disease negativity after chemotherapy, currently on maintenance therapy.

Cite This Study

Gotti et al. (2026) studied this question.

synapsesocial.com/papers/6a0ff1dbd674f7c03778b0d9 https://doi.org/10.3389/fped.2026.1820038

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The very rare association between T-cell acute lymphoblastic leukemia and down syndrome: a case report and review of the literature

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Key Points

Cite This Study

The very rare association between T-cell acute lymphoblastic leukemia and down syndrome: a case report and review of the literature

Discussion

Member takes

Implication

Key Points

Cite This Study

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