Medicine · Hematological Malignancies (Leukemias, Lymphoma, Myeloma, Myeloproliferative)

A young adult with acute myeloid leukaemia has blasts showing perinuclear clearing and salmon-coloured granules on smear, with maturation to abnormal eosinophils in the marrow. Which cytogenetic finding carries the most favourable prognostic implication in this patient?

  • A Complex karyotype with three or more abnormalities
  • B Monosomy 7
  • C FLT3 internal tandem duplication
  • D inv(16)(p13;q22) or t(16;16)
Correct answer: D. inv(16)(p13;q22) or t(16;16)

Explanation

Abnormal marrow eosinophils indicate AML-M4eo, defined by inv(16) or t(16;16) disrupting CBFB, one half of the core binding factor. Together with t(8;21) (RUNX1-RUNX1T1), these constitute the favourable-risk cytogenetic group in AML with superior complete remission rates. Monosomy 7, FLT3-ITD and complex karyotype are all adverse-risk lesions associated with poor outcomes and higher relapse rates.

Reference: Robbins and Cotran Pathologic Basis of Disease, 10th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

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