NDLI: Targeted Next-Generation Sequencing in Myelodysplastic Syndrome and Chronic Myelomonocytic Leukemia Aids Diagnosis in Challenging Cases and Identifies Frequent Spliceosome Mutations in Transformed Acute Myeloid Leukemia

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Targeted Next-Generation Sequencing in Myelodysplastic Syndrome and Chronic Myelomonocytic Leukemia Aids Diagnosis in Challenging Cases and Identifies Frequent Spliceosome Mutations in Transformed Acute Myeloid Leukemia

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About the Journal

AJCP American Journal of Clinical Pathology April 2016 Volume 145 Number 4 - Front Cover

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Year: 2016 Volume: 145 Issue: 3

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Targeted Next-Generation Sequencing in Myelodysplastic Syndrome and Chronic Myelomonocytic Leukemia Aids Diagnosis in Challenging Cases and Identifies Frequent Spliceosome Mutations in Transformed Acute Myeloid Leukemia

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Reinig, Erica Yang, Fei Traer, Elie Arora, Ranjana Brown, Shari Rattray, Rogan Braziel, Rita Fan, Guang Press, Richard Dunlap, Jennifer
Description	Author Affiliation: Reinig E ( From the Department of Pathology.); Yang F ( Knight Cancer Institute.); Traer E ( Knight Cancer Institute, Division of Hematology & Medical Oncology, Oregon Health & Science University, Portland.); Arora R ( From the Department of Pathology, Knight Cancer Institute.); Brown S ( From the Department of Pathology, Knight Cancer Institute.); Rattray R ( Knight Cancer Institute.); Braziel R ( From the Department of Pathology, Knight Cancer Institute.); Fan G ( From the Department of Pathology, Knight Cancer Institute.); Press R ( From the Department of Pathology, Knight Cancer Institute.); Dunlap J ( From the Department of Pathology, Knight Cancer Institute, dunlapj@ohsu.edu.)
Abstract	Objectives: Optimal integration of next-generation sequencing (NGS) into clinical practice in hematologic malignancies remains unclear. We evaluate the utility of NGS in myeloid malignancies. Methods: A 42-gene panel was used to sequence 109 cases of myelodysplastic syndrome (MDS, n = 38), chronic myelomonocytic leukemia (CMML, n = 14), myeloproliferative neoplasm (MPN, n = 24), and MDS and/or MPN transformed to acute myeloid leukemia (AML, n = 33). Results: At least one pathogenic mutation was identified in 74% of cases of MDS, 100% of CMMLs, and 96% of MPNs. In contrast, only 47% of cases of MDS (18/38) and 7% (1/14) of CMMLs exhibited abnormal cytogenetics. In diagnostically difficult cases of MDS or CMML with normal cytogenetics, NGS identified a pathogenic mutation and was critical in establishing the correct diagnosis. Spliceosomal genes and epigenetic modifiers were frequently mutated. Spliceosome mutations were also frequently detected in AML arising from MDS, CMML, or MPN (39%) compared with the reported rate in de novo AML (7%-14%). Conclusions: In difficult cases of MDS or MPN, NGS facilitates diagnosis by detection of gene mutations to confirm clonality, and AMLs evolving from MDS or MPN carry frequent mutations in spliceosomal genes.
File Format	HTM / HTML
ISSN	00029173
e-ISSN	19437722
Journal	American Journal of Clinical Pathology
Issue Number	4
Volume Number	145
Language	English
Publisher	Oxford University Press
Publisher Date	2016-04-01
Publisher Place	Great Britain (UK)
Access Restriction	Open
Subject Keyword	Discipline Pathology
Content Type	Text
Resource Type	Article
Subject	Pathology and Forensic Medicine

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Design, implementation and clinical utility of next generation sequencing in myeloid malignancies: acute myeloid leukaemia and myelodysplastic syndrome

Myeloid Clonal Infiltrate Identified With Next-Generation Sequencing in Skin Lesions Associated With Myelodysplastic Syndromes and Chronic Myelomonocytic Leukemia: A Case Series

Detection of Dual IDH1 and IDH2 Mutations by Targeted Next-Generation Sequencing in Acute Myeloid Leukemia and Myelodysplastic Syndromes.

Spliceosome mutations in myelodysplastic syndromes and chronic myelomonocytic leukemia

Next-Generation DNA Sequencing-Based Gene Panel for Diagnosis and Genetic Risk Stratification in Onco-Hematology

Targeted Next-Generation Sequencing Identifies Additional Mutations Other than BCR∷ABL in Chronic Myeloid Leukemia Patients: A Chinese Monocentric Retrospective Study.

Biomarkers in Acute Myeloid Leukemia: Leveraging Next Generation Sequencing Data for Optimal Therapeutic Strategies

Chromatin-Spliceosome Mutations in Acute Myeloid Leukemia

Clinical evaluation of panel testing by next-generation sequencing (NGS) for gene mutations in myeloid neoplasms

Targeted Next-Generation Sequencing in Myelodysplastic Syndrome and Chronic Myelomonocytic Leukemia Aids Diagnosis in Challenging Cases and Identifies Frequent Spliceosome Mutations in Transformed Acute Myeloid Leukemia

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Design, implementation and clinical utility of next generation sequencing in myeloid malignancies: acute myeloid leukaemia and myelodysplastic syndrome

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Targeted Next-Generation Sequencing in Myelodysplastic Syndrome and Chronic Myelomonocytic Leukemia Aids Diagnosis in Challenging Cases and Identifies Frequent Spliceosome Mutations in Transformed Acute Myeloid Leukemia