Variant Acute Promyelocytic Leukemia Presenting Without Auer Rods Highlights the Need for Correlation with Cytogenetic Data in Leukemia Diagnosis

Lab Med. 2022 Jan 6;53(1):95-99. doi: 10.1093/labmed/lmab051.

Abstract

Variant acute promyelocytic leukemia (vAPL) is a rare leukemia characterized by rearrangement between RARα and a non-PML partner gene. This type of leukemia can be difficult to recognize by histomorphologic evaluation, particularly in patients with few or no Auer rods, and by flow cytometry, but it can be identified by distinct cytogenetic features. Herein, we report on a patient with vAPL with t(11;17)(q23;q21) who presented an initial diagnostic challenge. Detailed flow cytometry findings are presented for this rare entity. Our case study also presents novel treatment (chemotherapy in combination with venetoclax) chosen based on mechanistic data from preclinical studies.

Keywords: ZBTB16; acute promyelocytic leukemia; bcl2 inhibitor; t(11;17); variant acute promyelocytic leukemia; venetoclax.

MeSH terms

  • Chromosome Aberrations
  • Cytogenetic Analysis
  • Cytogenetics
  • Humans
  • Leukemia, Promyelocytic, Acute* / diagnosis
  • Leukemia, Promyelocytic, Acute* / genetics
  • Translocation, Genetic