Rare gene fusion rearrangement SPTNB1-PDGFRB in an atypical myeloproliferative neoplasm

Vanessa Fiorini Furtado; Neeraj Y. Saini; William Walsh; Venu Bathini; Patricia M. Miron

doi:10.1186/s13039-018-0405-1

Rare gene fusion rearrangement SPTNB1-PDGFRB in an atypical myeloproliferative neoplasm

Vanessa Fiorini Furtado, Neeraj Y. Saini, William Walsh, Venu Bathini, Patricia M. Miron

Research output: Contribution to journal › Article › peer-review

2 Scopus citations

Abstract

The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia recognizes a distinct class of myeloid and lymphoid tumors with eosinophilia-related proliferations associated with specific gene rearrangements, one of which involves rearrangements of platelet-derived growth factor receptor B (PDGFRB) gene. We report a case of a rare PDGFRB rearrangement with SPTNB1 (spectrin beta, nonerythrocytic 1) that presented as atypical myeloproliferative neoplasm.

Original language	English (US)
Article number	56
Journal	Molecular Cytogenetics
Volume	11
Issue number	1
DOIs	https://doi.org/10.1186/s13039-018-0405-1
State	Published - Oct 19 2018
Externally published	Yes

Keywords

Myeloproliferative neoplasm
PDGFR mutation

ASJC Scopus subject areas

Biochemistry
Molecular Medicine
Molecular Biology
Genetics
Genetics(clinical)
Biochemistry, medical

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10.1186/s13039-018-0405-1

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abstract = "The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia recognizes a distinct class of myeloid and lymphoid tumors with eosinophilia-related proliferations associated with specific gene rearrangements, one of which involves rearrangements of platelet-derived growth factor receptor B (PDGFRB) gene. We report a case of a rare PDGFRB rearrangement with SPTNB1 (spectrin beta, nonerythrocytic 1) that presented as atypical myeloproliferative neoplasm.",

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AU - Furtado, Vanessa Fiorini

AU - Saini, Neeraj Y.

AU - Walsh, William

AU - Bathini, Venu

AU - Miron, Patricia M.

PY - 2018/10/19

Y1 - 2018/10/19

N2 - The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia recognizes a distinct class of myeloid and lymphoid tumors with eosinophilia-related proliferations associated with specific gene rearrangements, one of which involves rearrangements of platelet-derived growth factor receptor B (PDGFRB) gene. We report a case of a rare PDGFRB rearrangement with SPTNB1 (spectrin beta, nonerythrocytic 1) that presented as atypical myeloproliferative neoplasm.

AB - The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia recognizes a distinct class of myeloid and lymphoid tumors with eosinophilia-related proliferations associated with specific gene rearrangements, one of which involves rearrangements of platelet-derived growth factor receptor B (PDGFRB) gene. We report a case of a rare PDGFRB rearrangement with SPTNB1 (spectrin beta, nonerythrocytic 1) that presented as atypical myeloproliferative neoplasm.

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KW - PDGFR mutation

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Rare gene fusion rearrangement SPTNB1-PDGFRB in an atypical myeloproliferative neoplasm

Abstract

Keywords

ASJC Scopus subject areas

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