Internal Medicine
Online ISSN : 1349-7235
Print ISSN : 0918-2918
ISSN-L : 0918-2918
CASE REPORTS
Myeloid/Lymphoid Neoplasm with PDGFRB Rearrangement with t (5;10) (q33;q22) Harboring a Novel Breakpoint of the CCDC6-PDGFRB Fusion Gene
Miki YamazakiChiaki NakasekoMasahiro TakeuchiShinichi OzawaYasuhiro IshizukaYasuhito HatanakaNagisa Oshima-HasegawaTomoya MutoShokichi TsukamotoShio MitsukawaChikako OhwadaYusuke TakedaNaoya MimuraTohru IsekiMotoharu FukazawaEmiko Sakaida
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JOURNAL OPEN ACCESS

2019 Volume 58 Issue 23 Pages 3449-3453

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Abstract

Myeloid/lymphoid neoplasms with PDGFRB rearrangement are a distinct type of myeloid neoplasms that occur in association with rearrangement of PDGFRB at 5q32. The hematological features most often show prominent eosinophilia. We herein report a patient with myeloid/lymphoid neoplasms with PDGFRB rearrangement with t (5;10) (q33;q22) who showed atypical chronic myeloid leukemia-like clinical features without eosinophilia and achieved an optimal response to imatinib. A sequence analysis showed a CCDC6-PDGFRB fusion gene with a new break point in the PDGFRB gene. This is the sixth case of myeloid/lymphoid neoplasm with PDGFRB rearrangement harboring a CCDC6-PDGFRB fusion gene, and it has a new breakpoint in the PDGFRB fusion gene.

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© 2019 by The Japanese Society of Internal Medicine
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