JAZF1
Overview
JAZF1 (JAZF Zinc Finger 1) encodes a transcriptional repressor involved in glucose metabolism and cell survival. It is best known as the 5’ fusion partner in the t(7;17)(p15;q21) translocation creating JAZF1::JJAZ1 (SUZ12) fusions that define low-grade endometrial stromal sarcomas. However, in endometrial polyps, JAZF1 involvement has been explicitly excluded despite 7p15.2 structural breakpoints in the same chromosomal region.
Alterations observed in the corpus
- Explicitly excluded as a likely target of 7p15.2 breakpoints observed in endometrial polyps: breakpoints sit approximately 2 Mb upstream of JAZF1, arguing against a JAZF1 fusion (the classic endometrial stromal tumor mechanism via t(7;17)(p15;q21)) in this context; the breakpoints instead appear to dysregulate the nearby enhancer ENSR00001272277 to drive HMGA1 overexpression PMID:28445112
Cancer types (linked)
- UCEC / Endometrial Polyps: JAZF1 is not a driver in endometrial polyps despite 7p15.2 chromosomal rearrangements in this region; the classic JAZF1 fusion mechanism does not apply here PMID:28445112
- ULM (Endometrial Stromal Sarcoma): JAZF1::JJAZ1 (SUZ12) fusions are the canonical defining alteration in low-grade endometrial stromal sarcomas; this role is referenced as a comparator in the endometrial polyp study PMID:28445112
Co-occurrence and mutual exclusivity
- No JAZF1 fusions detected in endometrial polyps; discussed as a negative finding to distinguish polyp biology from endometrial stromal sarcoma PMID:28445112
Therapeutic relevance
- No therapeutic targeting of JAZF1 reported in this corpus.
Open questions
- The paper’s conclusions about JAZF1 hinge on precise 7p15.2 breakpoint mapping; the absence of JAZF1 involvement in endometrial polyps needs to be distinguished from endometrial stromal sarcoma contexts where JAZF1 fusions are pathognomonic PMID:28445112
Sources
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