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

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19 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)83-89
Number of pages7
JournalActa Haematologica
Volume129
Issue number2
DOIs
Publication statusPublished - 2013

All Science Journal Classification (ASJC) codes

  • Hematology

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    Morishige, S., Oku, E., Takata, Y., Kimura, Y., Arakawa, F., Seki, R., Imamura, R., Osaki, K., Hashiguchi, M., Yakushiji, K., Mizuno, S., Yoshimoto, K., Nagafuji, K., Ohshima, K., & Okamura, T. (2013). A case of 8p11 myeloproliferative syndrome with bcr-fgfr1 gene fusion presenting with trilineage acute leukemia/lymphoma, successfully treated by cord blood transplantation. Acta Haematologica, 129(2), 83-89. https://doi.org/10.1159/000341289