Hereditary leiomyomatosis and renal cell carcinoma syndrome

From Libre Pathology
Revision as of 13:44, 25 August 2014 by Michael (talk | contribs)
Jump to navigation Jump to search

Hereditary leiomyomatosis and renal cell carcinoma, also hereditary leiomyomatosis and renal cell cancer, is an uncommon syndrome caused by fumarate hydratase (FH) gene mutations.[1]

It is characterized by:[2]

IHC

  • 2SC +ve -- cytoplasmic,[3] cytoplasmic and nuclear.[4]
    • 2SC = S-(2-succino)-cysteine.

See also

References

  1. ↑ Online 'Mendelian Inheritance in Man' (OMIM) 136850
  2. ↑ Humphrey, Peter A; Dehner, Louis P; Pfeifer, John D (2008). The Washington Manual of Surgical Pathology (1st ed.). Lippincott Williams & Wilkins. pp. 290. ISBN 978-0781765275.
  3. ↑ Reyes, C.; Karamurzin, Y.; Frizzell, N.; Garg, K.; Nonaka, D.; Chen, YB.; Soslow, RA. (Jul 2014). "Uterine smooth muscle tumors with features suggesting fumarate hydratase aberration: detailed morphologic analysis and correlation with S-(2-succino)-cysteine immunohistochemistry.". Mod Pathol 27 (7): 1020-7. doi:10.1038/modpathol.2013.215. PMID 24309325.
  4. ↑ Chen, YB.; Brannon, AR.; Toubaji, A.; Dudas, ME.; Won, HH.; Al-Ahmadie, HA.; Fine, SW.; Gopalan, A. et al. (May 2014). "Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cancer: recognition of the syndrome by pathologic features and the utility of detecting aberrant succination by immunohistochemistry.". Am J Surg Pathol 38 (5): 627-37. doi:10.1097/PAS.0000000000000163. PMID 24441663.
Retrieved from "https://librepathology.org/w/index.php?title=Hereditary_leiomyomatosis_and_renal_cell_carcinoma_syndrome&oldid=33174"