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GATA3

MIM.131320 10p15

Tuesday 24 May 2005

Pathology

- germline mutations of GATA3 in HDR syndrome associating hypoparathyroidism, sensorineural deafness, and renal disease syndrome (Barakat syndrome) (MIM.146255)

- somatic mutations in mammary carcinomas (#15361840#)

Immunochemistry

- GATA3 has been recognized as a promising marker for primary urothelial carcinoma (UC), consistently showing higher expression levels than urothelial markers thrombomodulin and uroplakin III.

  • Specificity of GATA3 calculated on the basis of morphologic and immunophenotypic UC mimics from lung, cervix, head and neck is 92%.
  • Some findings demonstrate high sensitivity and specificity of the GATA3 diagnostic marker, with not only maintained but increased expression in regional metastases.
  • doi:10.1097/PAS.0b013e31829e2525

- Utility of GATA3 immunohistochemistry in differentiating urothelial carcinoma from prostate adenocarcinoma and squamous cell carcinomas of the uterine cervix, anus, and lung. (#22982890#)

  • Distinguishing invasive high-grade urothelial carcinoma (UC) from other carcinomas occurring in the genitourinary tract may be difficult.
  • The differential diagnosis includes high-grade prostatic adenocarcinoma, spread from an anal squamous cell carcinoma (SCC), or spread from a uterine cervical SCC.
  • In terms of metastatic UC, the most common problem is differentiating spread of UC to the lung from a primary pulmonary SCC.
  • GATA3 IHC is a sensitive marker for UC, and positive staining in UC is typically nonfocal and moderate or strong in intensity.
  • GATA3 is also highly specific in excluding high-grade prostate adenocarcinoma.
  • Although some cervical and anal SCCs can be GATA3 positive, unlike in UC, staining is more commonly focal and weak.
  • GATA3 is also a useful maker when diagnosing metastatic UC to the lung.

References

- Utility of GATA3 immunohistochemistry in differentiating urothelial carcinoma from prostate adenocarcinoma and squamous cell carcinomas of the uterine cervix, anus, and lung. Chang A, Amin A, Gabrielson E, Illei P, Roden RB, Sharma R, Epstein JI. Am J Surg Pathol. 2012 Oct;36(10):1472-6. doi: 10.1097/PAS.0b013e318260cde7 . PMID: #22982890#

- Ali A, Christie PT, Grigorieva IV, Harding B, Van Esch H, Ahmed SF, Bitner-Glindzicz M, Blind E, Bloch C, Christin P, Clayton P, Gecz J, Gilbert-Dussardier B, Guillen-Navarro E, Hackett A, Halac I, Hendy GN, Lalloo F, Mache CJ, Mughal Z, Ong AC, Rinat C, Shaw N, Smithson SF, Tolmie J, Weill J, Nesbit MA, Thakker RV. Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor. Hum Mol Genet. 2007 Feb 1;16(3):265-75. PMID: #17210674#