A case of 8p11 myeloproliferative syndrome with bcr-fgfr1 gene fusion presenting with trilineage acute leukemia/lymphoma, successfully treated by cord blood transplantation

Satoshi Morishige, Eijiro Oku, Yuka Takata, Yoshizo Kimura, Fumiko Arakawa, Ritsuko Seki, Rie Imamura, Koichi Osaki, Michitoshi Hashiguchi, Kazuaki Yakushiji, Shinichi Mizuno, Koji Yoshimoto, Koji Nagafuji, Koichi Ohshima, Takashi Okamura

研究成果: Contribution to journalArticle査読

21 被引用数 (Scopus)

抄録

The 8p11 myeloproliferative syndrome is a rare neoplasm associated with chromosomal translocations involving the fibroblast growth factor receptor 1 (FGFR1) gene located at chromosome 8p11-12. FGFR1 encodes a transmembrane receptor tyrosine kinase. The resultant fusion proteins are constitutively active tyrosine kinases that drive the proliferation of hematopoietic cells, whose uncontrolled growth can present as a myeloproliferative neoplasm. We report here the case of a 50-year-old man harboring the t(8;22)(p12;q11) chromosomal translocation in cells from both bone marrow and lymph nodes. He presented with acute leukemia and lymphoma with trilineage features. A novel mRNA in-frame fusion between exon 4 of the breakpoint cluster region (BCR) gene at chromosome 22q11 and exon 9 of FGFR1 gene on chromosome 8p11-12 was identified by reverse transcription polymerase chain reaction analysis and was confirmed by DNA sequencing. Because the patient was refractory to chemotherapy, cord blood transplantation was performed in progressive disease. It resulted in a successful outcome in which cytogenetic complete remission has been maintained for 2 years till date.

本文言語英語
ページ(範囲)83-89
ページ数7
ジャーナルActa Haematologica
129
2
DOI
出版ステータス出版済み - 2013
外部発表はい

All Science Journal Classification (ASJC) codes

  • Hematology

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