Cytogenetically Cryptic Acute Promyelocytic Leukemia: A Diagnostic Challenge

Author:

Mohebnasab Maedeh123ORCID,Li Peng4,Hong Bo4,Dunlap Jennifer1,Traer Elie35,Fan Guang1,Press Richard D.13,Moore Stephen R.3,Xie Wei1ORCID

Affiliation:

1. Department of Pathology and Laboratory Medicine, Oregon Health and Science University, Portland, OR 97239, USA

2. Division of Molecular Genomic Pathology, University of Pittsburgh Medical Center, Pittsburgh, PA 15213, USA

3. Department of Molecular and Medical Genetics and Knight Diagnostics Laboratory, Oregon Health and Science University, Portland, OR 97239, USA

4. Division of Hematopathology, Department of Pathology, University of Utah Health, Salt Lake City, UT 84112, USA

5. Division of Hematology and Medical Oncology, Oregon Health and Science University, Portland, OR 97239, USA

Abstract

Cytogenetically cryptic acute promyelocytic leukemia (APL) is rare, characterized by typical clinical and morphological features, but lacks t(15;17)(q24;q21)/PML::RARA translocation seen in conventional karyotyping or FISH. The prompt diagnosis and treatment of APL are critical due to life-threatening complications associated with this disease. However, cryptic APL cases remain a diagnostic challenge that could mislead the appropriate treatment. We describe four cryptic APL cases and review reported cases in the literature. Reverse transcriptase polymerase chain reaction (RT-PCR) is the most efficient diagnostic modality to detect these cases, and alternative methods are also discussed. This study highlights the importance of using parallel testing methods to diagnose cryptic APL cases accurately and effectively.

Publisher

MDPI AG

Subject

Inorganic Chemistry,Organic Chemistry,Physical and Theoretical Chemistry,Computer Science Applications,Spectroscopy,Molecular Biology,General Medicine,Catalysis

Reference20 articles.

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5. Characterization of a cryptic PML-RARA fusion by mate-pair sequencing in a case of acute promyelocytic leukemia with a normal karyotype and negative RARA FISH studies;Schultz;Leuk. Lymphoma,2020

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