FOXO1

(redirected from FOXO1A)

FOXO1

The gene on chromosome 13q14.1 which encodes a forkhead family transcription factor that regulates cell responses to oxidative stress. In the presence of KIRT1, it downregulates cyclin D1 and upregulates CDKN1B as required for cell transition from proliferation to quiescence. It may play a role in myogenic growth and differentiation.

Molecular pathology
FOXO1 translocation with PAX3 has been associated with alveolar rhabdomyosarcoma.
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However, C-ALCL is distinguished by additional losses on chromosomes 6 (including 6q16-6q21, the location of PRDM1/BLIMP-1 that encodes a transcription factor involved in T-cell homeostasis and differentiation) and 13 (including FOXO1A and BRCA2 on 13q12-13q14).
1) Five split-apart probe sets are used at our institution to evaluate most translocations including probes to the EWSR1, FUS, DDIT3, SYT, and FOXO1A genes (Abbott Molecular/Vysis, Des Plaines, Illinois).
Almost all examples of ES/ PNET and poorly differentiated SS harbored rearrangements of EWSR1 or SYT, respectively, whereas alveolar rhabdomyosarcoma was characterized by rearrangement of FOXO1A (13q14) in only 66% of cases.
Importantly, because roughly 20% of alveolar rhabdomyosarcomas do not harbor rearrangements of FOXO1A (5-8) (30% in our study), a negative FOXO1A FISH study does not exclude the diagnosis of alveolar rhabdomyosarcoma; in these cases, the diagnosis rests upon recognition of characteristic histologic features and a supportive immunohistochemical profile.