A novel fusion gene involving PDGFRB and GCC2 in a chronic eosinophilic leukemia patient harboring t(2;5)(q37;q31). Issue 4 (29th January 2019)

• Record Type: Journal Article
• Authors: Iriyama, Noriyoshi; Takahashi, Hiromichi; Naruse, Hiromu; Miura, Katsuhiro; Uchino, Yoshihito; Nakagawa, Masaru; Iizuka, Kazuhide; Hamada, Takashi; Hatta, Yoshihiro; Nakayama, Tomohiro; Takei, Masami
• Is Part Of: Molecular genetics & genomic medicine. Volume 7:Issue 4(2019)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2019-01-29
• Subjects: chronic eosinophilic leukemia -- GCC2 -- imatinib -- PDGFRB; Medical genetics -- Periodicals; Genomics -- Periodicals; 616.042
• DOI: 10.1002/mgg3.591
• Languages: English
• ISSNs: 2324-9269

Abstract

Abstract: Background: Platelet‐derived growth factor receptor beta ( PDGFRB ) rearrangement has been reported in a number of patients with chronic eosinophilic leukemia (CEL), B‐acute lymphoblastic leukemia, myeloproliferative neoplasms, and juvenile myelomonocytic leukemia. Here, we report a case of CEL carrying a novel fusion gene involving PDGFRB and GRIP and coiled‐coil domain containing 2 ( GCC2 ). Patient and methods: A 54‐year‐old man presenting with a cough and dyspnea was diagnosed with acute eosinophilic pneumonia. Cytogenetic analysis of the bone marrow revealed the presence of t(2;5)(q37;q31). Fluorescence in situ hybridization analysis in the peripheral blood leukocytes revealed the presence of a split signal at PDGFRB gene. Imatinib treatment was effective, and disappearance of t(2;5)(q37;q31) in the bone marrow was confirmed after three months of imatinib therapy. Whole‐genome sequencing was performed in peripheral blood leukocytes collected before imatinib therapy. Results: A novel fusion gene between exon 22 of GCC2 and exon 12 of PDGFRB was detected and the presence of GCC2‐PDGFRB was confirmed by PCR. Conclusion: This is the first case report demonstrating the GCC2 gene as a partner of PDGFRB in the pathogenesis of CEL. Abstract : Whole genome sequence identifying the breakpoint forming platelet‐derived growth factor receptor beta (PDGFRB) and GRIP And Coiled‐Coil Domain Containing 2 (GCC2) fusion gene (a). Direct sequencing analysis confirming the presence of GCC2‐PDGFRB fusion gene (b).