Difference between revisions of "Hereditary renal cell carcinoma"
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* Hereditary papillary carcinoma (TFE3 related translocations).<ref name=omim314310>{{OMIM|314310}}</ref> | * Hereditary papillary carcinoma (TFE3 related translocations).<ref name=omim314310>{{OMIM|314310}}</ref> | ||
* Small number of BAP1 mutation described in the context of clear cell RCC.<ref name=pmid37941648>{{cite journal |authors=Lee J, Thuzar M, DiPoto-Brahmbhatt AC, Chaudoir C, Tanner A, Fazili T, Yu X, Constantinescu M, Yeh YA |title=Clear cell renal cell carcinoma with BAP1 mutation: a report of two cases |journal=Am J Clin Exp Urol |volume=11 |issue=5 |pages=429–434 |date=2023 |pmid=37941648 |pmc=10628621 |doi= |url=}}</ref> | |||
Notes:<br> | Notes:<br> | ||
Latest revision as of 16:30, 28 February 2025
Hereditary renal cell carcinoma is relatively uncommon.
General
The classics - which are all autosomal dominant:[1]
- Von Hippel-Lindau syndrome.
- VHL gene mutation.
- Clear cell RCC.
- Hereditary clear cell renal cell carcinoma.
- VHL gene mutation.
- Hereditary papillary renal cell carcinoma.
- MET proto-oncogene mutation.
- PaRCC type 1.[2]
- Hereditary leiomyomatosis and renal cell cancer:[2]
- FH (fumarate hydratase) gene mutation.[3]
- PaRCC type 2.
- Benign leiomyomas skin/uterus.
- Uterine leiomyosarcoma.
- Birt–Hogg–Dubé syndrome:[2]
- FLCN (folliculin) gene mutation.[4]
- Skin lesions (fibrofolliculoma, trichodiscoma, acrochordon).
- ChRCC most common, other types seen (e.g. oncocytoma).
- Variable penetrance (autosomal dominant).
Others:
- Hereditary papillary carcinoma (TFE3 related translocations).[5]
- Small number of BAP1 mutation described in the context of clear cell RCC.[6]
Notes:
- A total of ten hereditary renal cancer syndromes have been described. In eight of the ten the gene is known.[7]
Molecular
Recurrent molecular changes in RCC:
- Clear cell RCC:
- Loss of 3p - contains the VHL gene.
- Papillary RCC:
- Sporadic:
- Trisomy 7, 16, 17.
- Loss of Y.
- Familial:
- Trisomy 7 - contains MET gene.[8]
- Sporadic:
Sign out
Suspected - young patient
The patient is eligible for genetic testing via Cancer Care Ontario's Hereditary Cancer Testing program, as they are less than age 45 years at the time of the diagnosis. https://www.cancercareontario.ca/en/guidelines-advice/treatment-modality/pathology-laboratory-testing/genetic-testing-resources https://www.cancercareontario.ca/en/guidelines-advice/types-of-cancer/70161
See also
References
- ↑ Cotran, Ramzi S.; Kumar, Vinay; Fausto, Nelson; Nelso Fausto; Robbins, Stanley L.; Abbas, Abul K. (2005). Robbins and Cotran pathologic basis of disease (7th ed.). St. Louis, Mo: Elsevier Saunders. pp. 1016. ISBN 0-7216-0187-1.
- ↑ Jump up to: 2.0 2.1 2.2 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.
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 136850
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 135150
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 314310
- ↑ Lee J, Thuzar M, DiPoto-Brahmbhatt AC, Chaudoir C, Tanner A, Fazili T, Yu X, Constantinescu M, Yeh YA (2023). "Clear cell renal cell carcinoma with BAP1 mutation: a report of two cases". Am J Clin Exp Urol 11 (5): 429–434. PMC 10628621. PMID 37941648. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10628621/.
- ↑ Verine, J.; Pluvinage, A.; Bousquet, G.; Lehmann-Che, J.; de Bazelaire, C.; Soufir, N.; Mongiat-Artus, P. (Nov 2010). "Hereditary renal cancer syndromes: an update of a systematic review.". Eur Urol 58 (5): 701-10. doi:10.1016/j.eururo.2010.08.031. PMID 20817385.
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 164860