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

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

  • By

  • Giacomo Gotti

  • Laura Rachele Bettini

  • Stefano Rebellato

  • Valentino Conter

  • Antonella Colombini

  • Veronica Leoni

  • Alessandra Sala

  • Marco Spinelli

  • Andrea Biondi

  • Grazia Fazio

  • Adriana Cristina Balduzzi

  • Carmelo Rizzari

  • May 18, 2026

  • 0 min

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Clinical Scorecard: A Rare Case of T-Cell Acute Lymphoblastic Leukemia in a Patient with Down Syndrome: A Review of Existing Literature

At a Glance

CategoryDetail
Condition
Key MechanismsComplex karyotype with translocation t(1;14) and pathogenic mutations in NOTCH1 and FBXW7, as observed in the case.
Target Population
Care Setting

Key Highlights

  • First detailed genetic characterization of T-ALL in a DS child, including specific mutations found.

Guideline-Based Recommendations

Diagnosis

    Management

    • Consider treatment modifications based on patient response and complications, as seen in the case.

    Monitoring & Follow-up

      Risks

        Patient & Prescribing Data

        Anthracycline-free induction due to severe complications, specifically tumor lysis syndrome.

        Clinical Best Practices

        • Monitor for specific complications such as tumor lysis syndrome and infections during induction therapy.

        Related Resources & Content

        Original Source(s)

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

        • by Giacomo Gotti, Laura Rachele Bettini, Stefano Rebellato, Valentino Conter, Antonella Colombini, Veronica Leoni, Alessandra Sala, Marco Spinelli, Andrea Biondi, Grazia Fazio, Adriana Cristina Balduzzi, Carmelo Rizzari

        • May 18, 2026

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