Myeloid/Lymphoid Neoplasm with PDGFRB Rearrangement with t (5;10) (q33;q22) Harboring a Novel Breakpoint of the CCDC6-PDGFRB Fusion Gene

• Published in: Internal Medicine Vol. 58; no. 23; pp. 3449 - 3453
• Main Authors: Yamazaki, Miki, Nakaseko, Chiaki, Takeuchi, Masahiro, Ozawa, Shinichi, Ishizuka, Yasuhiro, Hatanaka, Yasuhito, Oshima-Hasegawa, Nagisa, Muto, Tomoya, Tsukamoto, Shokichi, Mitsukawa, Shio, Ohwada, Chikako, Takeda, Yusuke, Mimura, Naoya, Iseki, Tohru, Fukazawa, Motoharu, Sakaida, Emiko
• Format: Journal Article
• Language: English
• Published: Japan The Japanese Society of Internal Medicine 01.12.2019; Japan Science and Technology Agency
• Subjects: Antineoplastic Agents - therapeutic use; atypical chronic myeloid leukemia; Case Report; CCDC6-PDGFRB; Chronic myeloid leukemia; Cytoskeletal Proteins - genetics; Eosinophilia; Eosinophilia - genetics; Fusion protein; Gene rearrangement; Gene Rearrangement - genetics; Hematology; Humans; Imatinib; Imatinib Mesylate - therapeutic use; Internal medicine; Leukemia; Leukemia, Myelogenous, Chronic, BCR-ABL Positive - genetics; Male; Middle Aged; Myeloid leukemia; myeloid/lymphoid neoplasms with PDGFRB rearrangement; Oncogene Proteins, Fusion - genetics; Receptor, Platelet-Derived Growth Factor beta - genetics; t (5;10) (q33;q22); Translocation, Genetic - genetics; Tumors; atypical chronic myeloid leukemia; imatinib; CCDC6-PDGFRB; t (5;10) (q33;q22); myeloid/lymphoid neoplasms with PDGFRB rearrangement
• ISSN: 0918-2918; 1349-7235
• DOI: 10.2169/internalmedicine.3220-19

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.