Cytogenetically Cryptic Acute Promyelocytic Leukemia: A Diagnostic Challenge

Maedeh Mohebnasab; Peng Li; Bo Hong; Jennifer Dunlap; Elie Traer; Guang Fan; Richard D. Press; Stephen R. Moore; Wei Xie

doi:10.3390/ijms241713075

Cytogenetically Cryptic Acute Promyelocytic Leukemia: A Diagnostic Challenge

Maedeh Mohebnasab, Peng Li, Bo Hong, Jennifer Dunlap, Elie Traer, Guang Fan, Richard D. Press, Stephen R. Moore, Wei Xie

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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.

Original language	English (US)
Article number	13075
Journal	International journal of molecular sciences
Volume	24
Issue number	17
DOIs	https://doi.org/10.3390/ijms241713075
State	Published - Sep 2023

Keywords

APL
FISH
PML::RARA
cryptic translocation

ASJC Scopus subject areas

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

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10.3390/ijms241713075

Cite this

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title = "Cytogenetically Cryptic Acute Promyelocytic Leukemia: A Diagnostic Challenge",

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.",

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AU - Mohebnasab, Maedeh

AU - Li, Peng

AU - Hong, Bo

AU - Dunlap, Jennifer

AU - Traer, Elie

AU - Fan, Guang

AU - Press, Richard D.

AU - Moore, Stephen R.

AU - Xie, Wei

PY - 2023/9

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N2 - 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.

AB - 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.

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Cytogenetically Cryptic Acute Promyelocytic Leukemia: A Diagnostic Challenge

Abstract

Keywords

ASJC Scopus subject areas

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