A case of 8p11 myeloproliferative syndrome with BCR-FGFR1 gene fusion presenting with trilineage acute leukemia/lymphoma, successfully treated by cord blood transplantation.
Acta Haematol
; 129(2): 83-9, 2013.
Article
em En
| MEDLINE
| ID: mdl-23171834
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Proteínas de Fusão Oncogênica
/
Proteínas Proto-Oncogênicas c-bcr
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Receptor Tipo 1 de Fator de Crescimento de Fibroblastos
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Leucemia-Linfoma Linfoblástico de Células Precursoras
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Sangue Fetal
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Transtornos Mieloproliferativos
Tipo de estudo:
Prognostic_studies
Limite:
Humans
/
Male
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Middle aged
Idioma:
En
Revista:
Acta Haematol
Ano de publicação:
2013
Tipo de documento:
Article
País de afiliação:
Japão