NEXT GENERATION SEQUENCING PRACTICES IN HEMATOLOGY: A RECENT EXPERIENCE OF A SINGLE CENTER

Objective: Next-generation sequencing (NGS)-based technologies are novel methodologies for the diagnosis, prognostic assessment and decision of individualized treatment strategy in hematological neoplasia. NGS led to a more comprehensive understanding of the mutational landscape, especially in the...

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Autores principales:	Muruvvet Seda AYDIN, Funda CERAN, Simten DAGDAS, Gulsum OZET
Formato:	article
Lenguaje:	EN
Publicado:	Elsevier 2021
Materias:	Diseases of the blood and blood-forming organs RC633-647.5
Acceso en línea:	https://doaj.org/article/033d9fee069344e0892d1b81f721cd93
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spelling	oai:doaj.org-article:033d9fee069344e0892d1b81f721cd932021-11-10T04:34:53ZNEXT GENERATION SEQUENCING PRACTICES IN HEMATOLOGY: A RECENT EXPERIENCE OF A SINGLE CENTER2531-137910.1016/j.htct.2021.10.1017https://doaj.org/article/033d9fee069344e0892d1b81f721cd932021-11-01T00:00:00Zhttp://www.sciencedirect.com/science/article/pii/S2531137921011640https://doaj.org/toc/2531-1379Objective: Next-generation sequencing (NGS)-based technologies are novel methodologies for the diagnosis, prognostic assessment and decision of individualized treatment strategy in hematological neoplasia. NGS led to a more comprehensive understanding of the mutational landscape, especially in the myeloid neoplasms. Herein, we present the results of the patients who underwent NGS with the suspicion of myeloid neoplasia. Methodology: Retrospective data from a total of 13 patients were analyzed who were diagnosed between 01.10.2018 and 01.06.2021. There were four myeloid panels in the NGS. Panel 1 consists of ASXL1, CALR, CBL, CEBPA, CSF3R, and DNMT3A mutations. Panel 2 consists of EZH2, FLT3, IDH1, IDH2, JAK2, KIT, KRAS, and MPL mutations. Panel 3 consists of NPM1, NRAS, RUNX1, SETBP1, and SF3B1 mutations. Panel 4 consists of SH2B3/LNK, SRSF2, TET2, TP53, U2AF1, ZRSR2 mutations. Results: Median age was 48. Diagnoses were AML (n=7), AA (n=1), MDS (n=2), DLBCL (n=1), MM (n=1), and Evans syndrome (n=1). Seven cases with malignant diagnoses were eligible for intensive therapy. There were no mutations detected by NGS in MM, AA, DLBCL, and Evans syndrome cases. Biallelic CEBPA mutation accompanied FLT3 mutation in 1 case. IDH1 and NPM mutation were detected in 1 APL case. MPL, SRSF2, ASXL1, CBL, U2AF1, SF2B1, and TET2 were mutations detected in cases with dysplasia. Conclusion: In our cohort, NGS did not add any significant information in the lymphoid malignancies and benign hematological cases. NGS helped to define the allelic ratio of FLT3+ mutations and helped to accurately define the ELN risk of AML. Mutations that were detected in the cases with dysplastic bone marrow findings were concordant that were reported in the literature. Larger case series are needed in order to define the therapeutic and prognostic implications.Muruvvet Seda AYDINFunda CERANSimten DAGDASGulsum OZETElsevierarticleDiseases of the blood and blood-forming organsRC633-647.5ENHematology, Transfusion and Cell Therapy, Vol 43, Iss , Pp S35-S36 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Diseases of the blood and blood-forming organs RC633-647.5
spellingShingle	Diseases of the blood and blood-forming organs RC633-647.5 Muruvvet Seda AYDIN Funda CERAN Simten DAGDAS Gulsum OZET NEXT GENERATION SEQUENCING PRACTICES IN HEMATOLOGY: A RECENT EXPERIENCE OF A SINGLE CENTER
description	Objective: Next-generation sequencing (NGS)-based technologies are novel methodologies for the diagnosis, prognostic assessment and decision of individualized treatment strategy in hematological neoplasia. NGS led to a more comprehensive understanding of the mutational landscape, especially in the myeloid neoplasms. Herein, we present the results of the patients who underwent NGS with the suspicion of myeloid neoplasia. Methodology: Retrospective data from a total of 13 patients were analyzed who were diagnosed between 01.10.2018 and 01.06.2021. There were four myeloid panels in the NGS. Panel 1 consists of ASXL1, CALR, CBL, CEBPA, CSF3R, and DNMT3A mutations. Panel 2 consists of EZH2, FLT3, IDH1, IDH2, JAK2, KIT, KRAS, and MPL mutations. Panel 3 consists of NPM1, NRAS, RUNX1, SETBP1, and SF3B1 mutations. Panel 4 consists of SH2B3/LNK, SRSF2, TET2, TP53, U2AF1, ZRSR2 mutations. Results: Median age was 48. Diagnoses were AML (n=7), AA (n=1), MDS (n=2), DLBCL (n=1), MM (n=1), and Evans syndrome (n=1). Seven cases with malignant diagnoses were eligible for intensive therapy. There were no mutations detected by NGS in MM, AA, DLBCL, and Evans syndrome cases. Biallelic CEBPA mutation accompanied FLT3 mutation in 1 case. IDH1 and NPM mutation were detected in 1 APL case. MPL, SRSF2, ASXL1, CBL, U2AF1, SF2B1, and TET2 were mutations detected in cases with dysplasia. Conclusion: In our cohort, NGS did not add any significant information in the lymphoid malignancies and benign hematological cases. NGS helped to define the allelic ratio of FLT3+ mutations and helped to accurately define the ELN risk of AML. Mutations that were detected in the cases with dysplastic bone marrow findings were concordant that were reported in the literature. Larger case series are needed in order to define the therapeutic and prognostic implications.
format	article
author	Muruvvet Seda AYDIN Funda CERAN Simten DAGDAS Gulsum OZET
author_facet	Muruvvet Seda AYDIN Funda CERAN Simten DAGDAS Gulsum OZET
author_sort	Muruvvet Seda AYDIN
title	NEXT GENERATION SEQUENCING PRACTICES IN HEMATOLOGY: A RECENT EXPERIENCE OF A SINGLE CENTER
title_short	NEXT GENERATION SEQUENCING PRACTICES IN HEMATOLOGY: A RECENT EXPERIENCE OF A SINGLE CENTER
title_full	NEXT GENERATION SEQUENCING PRACTICES IN HEMATOLOGY: A RECENT EXPERIENCE OF A SINGLE CENTER
title_fullStr	NEXT GENERATION SEQUENCING PRACTICES IN HEMATOLOGY: A RECENT EXPERIENCE OF A SINGLE CENTER
title_full_unstemmed	NEXT GENERATION SEQUENCING PRACTICES IN HEMATOLOGY: A RECENT EXPERIENCE OF A SINGLE CENTER
title_sort	next generation sequencing practices in hematology: a recent experience of a single center
publisher	Elsevier
publishDate	2021
url	https://doaj.org/article/033d9fee069344e0892d1b81f721cd93
work_keys_str_mv	AT muruvvetsedaaydin nextgenerationsequencingpracticesinhematologyarecentexperienceofasinglecenter AT fundaceran nextgenerationsequencingpracticesinhematologyarecentexperienceofasinglecenter AT simtendagdas nextgenerationsequencingpracticesinhematologyarecentexperienceofasinglecenter AT gulsumozet nextgenerationsequencingpracticesinhematologyarecentexperienceofasinglecenter
_version_	1718440529229774848

NEXT GENERATION SEQUENCING PRACTICES IN HEMATOLOGY: A RECENT EXPERIENCE OF A SINGLE CENTER

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