chromosomal translocation t(12;22)(q13;q12) (MMSP)

- chromosomal translocation t(12;22)(q13;q12) involving EWSR1 with ATF-1 is associated with: a) malignant melanoma of soft parts b) angiomatoid fibrous histiocytoma - the translocation generates a chimeric EWSR1/ATF1 protein

Properties

GENERAL: chromosomal translocation RELATED: EWS gene ATF1 gene melanoma FORM: t(12;22)(q13;q12) LOCUS: human chromosome-12 Q13 human chromosome-22 Q12 PATHOLOGY: melanoma ABERRANT-GENE: ATF1 gene EWS gene

References

Harrison's Principles of Internal Medicine, 14th ed. Fauci et al (eds), McGraw-Hill Inc. NY, 1998, pg 519