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.
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 ( approximately 0.06%). FISH analysis was performed in 13 patients (12 had myeloid neoplasms) and revealed abnormalities of MYST3 (n = 4) or FGFR1 (n = 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.
Division of Hematology, Mayo Clinic, Rochester, MN, USA.
Mrinal M
MM
Patnaik
Naseema
N
Gangat
Ryan A
RA
Knudson
Jeannette G
JG
Keefe
Curtis A
CA
Hanson
Animesh
A
Pardanani
Rhett P
RP
Ketterling
Ayalew
A
Tefferi
D000328:Adult; D000368:Aged; D001854:Bone Marrow Cells / Q000378:metabolism / Q000473:pathology; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D015331:Cohort Studies; D004802:Eosinophilia / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D019337:Hematologic Neoplasms / Q000235:genetics*; D051548:Histone Acetyltransferases / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009196:Myeloproliferative Disorders / Q000235:genetics*; D050596:Oncogene Fusion; D051496:Receptor, Fibroblast Growth Factor, Type 1 / Q000235:genetics*; D012189:Retrospective Studies; D014178:Translocation, Genetic
D051548:Histone Acetyltransferases; C108712:KAT6A protein, human; C496348:FGFR1 protein, human; D051496:Receptor, Fibroblast Growth Factor, Type 1