Acute promyelocytic leukaemia (<scp>APML</scp>) with cryptic <i><scp>PML</scp>‐<scp>RARA</scp></i> fusion has a clinical course comparable to classical <scp>APML</scp> with t(15;17)(q24.1;q21.2) translocation

Greenfield, Graeme; Michail, Olga; Merron, Bridgin; McGimpsey, Julie; Catherwood, Mark; McMullin, Mary Frances

doi:10.1111/bjh.15738

Cited by 3 publications

(2 citation statements)

References 2 publications

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“…Enumeration probes for chromosomes 5q and 7q are also critical in diagnoses and prognostication in myeloid neoplasms. Finally, small insertions or deletions will typically not be detected in all probe strategies . FISH panels which correspond to frequently altered chromosomal abnormalities in different diseases (ie, plasma cell neoplasm, myelodysplastic syndromes, chronic lymphocytic leukemia) are common and may provide diagnostic and prognostic value …”

Section: Cytogeneticsmentioning

confidence: 99%

Molecular genetic testing methodologies in hematopoietic diseases: current and future methods

Sridhar

Singh

Butzmann

et al. 2019

Int J Lab Hematology

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Introduction Rapid technological advancements in clinical molecular genetics have increased our diagnostic and prognostic capabilities in health care. Understanding these assays, as well as how they may change over time, is critical for pathologists, clinicians, and translational researchers alike. Methods This review provides a practical summary and basic reference for current molecular genetic technologies, as well as new testing methodologies that are in use, gaining momentum, or anticipated to contribute more broadly in the future. Results Here, we discuss DNA and RNA based methodologies including classic assays such as the polymerase chain reaction (PCR), Sanger sequencing, and microarrays, to more cutting‐edge next‐generation sequencing (NGS) based assays and emerging molecular technologies such as cell‐free DNA (cfDNA) or circulating tumor DNA (ctDNA), and NGS‐based detection of infectious disease organisms. Conclusion This review serves as a basic foundation for knowledge in current and emerging clinical molecular genetic technologies.

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Section: Cytogeneticsmentioning

confidence: 99%

Molecular genetic testing methodologies in hematopoietic diseases: current and future methods

Sridhar

Singh

Butzmann

et al. 2019

Int J Lab Hematology

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“…Acute promyelocytic leukemia (APL) is a distinct subtype of acute myeloid leukemia, characterized by specific chromosomal translocation t(15;17)(q22;q21) or promyelocytic leukemia‐retinoic acid receptor alpha ( PML‐RARα ) fusion gene detected by molecular testing 1 . All‐trans retinoic acid (ATRA) is a successful drug that causes disease regression in APL patients, interacts with chimeric oncoprotein encoded by the PML‐RARα oncogene, and causes both transcriptional activation and proteolytic degradation, leading to granulocyte differentiation of APL cells 2,3 .…”

Section: Introductionmentioning

confidence: 99%

Clinical significance of long noncoding RNA maternally expressed gene 3 in acute promyelocytic leukemia

Jiang

Wang

et al. 2020

Int J Lab Hematology

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Introduction Long noncoding RNA maternally expressed gene 3 (MEG3) expression was significantly decreased in acute myeloid leukemia (AML). However, its expression and clinical significance in acute promyelocytic leukemia (APL) remain unclear. Thus, the present study aimed to investigate the expression of MEG3 in APL and explore its clinical value. Methods A total of 287 AML patients derived from The Cancer Genome Atlas (TCGA) and Vizome database were enrolled. A development and validation cohort, including APL, AML with AML1/ETO, and other types of AML patients and disease controls, from the First Affiliated Hospital of Nanchang University, were also enrolled in this study. The correlation between MEG3 expression and the clinicopathological features in APL was investigated. The diagnostic values of MEG3 expression in APL were analyzed by receiver operating characteristic (ROC) curves. Result In the development set, MEG3 expression was significantly increased in APL than AML with AML1/ETO, other types of AML, and disease controls, which was consistent with the results from the database analysis. MEG3 expression in APL was associated with age (P = .0053) but did not correlate with other clinicopathological features (P > .05). ROC curve analysis in the development set and diagnostic test analysis in the validation set suggested that MEG3 expression has a significant value in the diagnosis of APL. Furthermore, the expression of MEG3 decreased during the follow‐up of patients with negative PML/RARα fusion gene. Conclusion MEG3 serves as a novel marker for the diagnosis of APL, evaluates the curative effect, and provides a novel direction for further research.

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Cryptic partial insertion of the RARA gene into the PML gene without reciprocal RARA-PML fusion: a case report and review of literature

et al. 2020

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Acute promyelocytic leukaemia (APML) with cryptic PML‐RARA fusion has a clinical course comparable to classical APML with t(15;17)(q24.1;q21.2) translocation

Cited by 3 publications

References 2 publications

Molecular genetic testing methodologies in hematopoietic diseases: current and future methods

Molecular genetic testing methodologies in hematopoietic diseases: current and future methods

Clinical significance of long noncoding RNA maternally expressed gene 3 in acute promyelocytic leukemia

Cryptic partial insertion of the RARA gene into the PML gene without reciprocal RARA-PML fusion: a case report and review of literature

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