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Acute myeloid leukemia with RAM immunophenotype: A new underdiagnosed entity.

Smeeta Gajendra1, Shilpa Anupurba1, Ritu Gupta1

  • 1Laboratory Oncology, Dr. BRAIRCH, AIIMS, New Delhi, India.

International Journal of Laboratory Hematology
|April 20, 2023
PubMed
Summary

Acute myeloid leukemia (AML) with RAM immunophenotype is a rare, aggressive pediatric leukemia. This study highlights its diagnostic challenges and poor prognosis, emphasizing comprehensive immunophenotyping for accurate identification.

Keywords:
CBFA2T3-GLIS2 fusionMFIRAM phenotypeacute myeloid leukemiaflowcytometric immunophenotyping

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Area of Science:

  • Hematology
  • Pediatric Oncology
  • Immunophenotyping

Background:

  • Acute myeloid leukemia (AML) with RAM immunophenotype is a distinct subtype characterized by strong CD56 expression and poor response to chemotherapy.
  • This aggressive leukemia subtype presents diagnostic challenges due to its unique morphological and immunophenotypic properties.

Purpose of the Study:

  • To analyze the clinical, morphological, immunophenotypic, cytogenetic, and molecular profiles of pediatric AML cases with RAM immunophenotype.
  • To identify diagnostic challenges and prognostic factors associated with this AML subtype.

Main Methods:

  • Retrospective analysis of seven newly diagnosed pediatric AML cases (age <18 years) with RAM immunophenotype from January 2019 to December 2021.
  • Comprehensive evaluation including morphology, cytochemistry, immunophenotyping (flow cytometry), cytogenetics, and molecular studies.
  • Clinical follow-up of patients' disease and treatment status.

Main Results:

  • Seven cases (2.3%) of pediatric AML with RAM immunophenotype were identified, with ages ranging from 9 months to 5 years.
  • Two cases were initially misdiagnosed as granulocytic sarcoma due to strong CD56 positivity and lack of leukocyte common antigen.
  • Flow cytometry revealed characteristic findings including low side scatter, dim/negative CD45 and CD38, and bright CD56; weak CD13 expression was noted.
  • Six out of seven patients (85.7%) succumbed to the disease within 3-343 days.

Conclusions:

  • AML with RAM immunophenotype is a distinct pediatric AML subtype with a poor prognosis and potential diagnostic challenges, especially when presenting as a soft tissue mass.
  • Comprehensive immunophenotypic evaluation is crucial for accurate diagnosis of myeloid sarcoma with RAM immunophenotype.
  • Weak CD13 expression is identified as an additional diagnostic finding for this AML subtype.