Chromosome 8p11.2 translocations: Prevalence, FISH analysis for FGFR1 and MYST3, and clinicopathologic correlates in a consecutive cohort of 13 cases from a single institution

Mrinal M. Patnaik, Naseema Gangat, Ryan A. Knudson, Jeannette G. Keefe, Curtis A. Hanson, Animesh Pardanani, Rhett P. Ketterling, Ayalew Tefferi

Research output: Contribution to journalArticlepeer-review

29 Scopus citations

Abstract

Chromosome 8p11.2 translocations result in diverse oncogenic fusion genes involving FGFR1 or MYST3. Among 24,262 unique patient cytogenetic studies performed at the Mayo Clinic, 8p11.2 translocations were identified in 14 cases (∼0.06%). FISH analysis was performed in 13 patients (12 had myeloid neoplasms) and revealed abnormalities of MYST3 (n 5 4) or FGFR1 (n 5 4) in eight patients. MYST3 abnormalities were associated with acute myeloid leukemia (AML), M4 in three and M6 in one. Three of the four FGFR1-rearranged cases were associated with myeloproliferative neoplasms but none, including the two with sole 8p11.2, displayed the typical phenotype for stem cell leukemia/lymphoma (SCLL) and only one had eosinophilia; the fourth case had AML-M4. FISH did not reveal FGFR1 involvement in the one patient with SCLL. We conclude that neither the SCLL phenotype nor blood eosinophilia is a consistent feature of FGFR1-associated 8p11.2 translocations; conversely, FISH might not always reveal FGFR1 involvement in typical SCLL.

Original languageEnglish (US)
Pages (from-to)238-242
Number of pages5
JournalAmerican journal of hematology
Volume85
Issue number4
DOIs
StatePublished - Apr 2010

ASJC Scopus subject areas

  • Hematology

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