Acute monoblastic leukemia with abnormal eosinophils and inversion (16): A rare entity

Kiruthiga Kala Gnanasekaran, Mary P Chacko1, Marie Therese Manipadam

  • 1Department of Transfusion Medicine and Immunohematology, Christian Medical College, Vellore, Tamil Nadu, India.

Insights

A rare case of acute myeloid leukemia (AML) subtype M5 with an inversion (inv) of chromosome 16, typically seen in AML M4, was identified in a young woman. This unusual finding highlights the diverse genetic landscape of AML.

Area of Science:

  • Hematology
  • Cytogenetics
  • Oncology

Background:

  • Acute myeloid leukemia (AML) is a heterogeneous stem cell malignancy.
  • Classification relies on morphology and genetic markers.
  • Pericentric inversion of chromosome 16 (inv(16)) is a known cytogenetic abnormality in AML.

Observation:

  • The inv(16) is typically associated with AML M4 subtype and eosinophilia.
  • This genetic abnormality usually indicates a favorable prognosis.
  • A rare instance of inv(16) was observed in a patient with AML M5.

Findings:

  • The study reports a unique case of AML M5 presenting with inv(16).
  • Abnormal eosinophils were noted in conjunction with this rare genetic finding.
  • This represents one of approximately 20 reported cases globally.

Implications:

  • This case expands the known spectrum of genetic abnormalities in AML M5.
  • It challenges the typical association of inv(16) solely with AML M4.
  • Further research is needed to understand the prognostic significance of inv(16) in AML M5.