Difference between revisions of "Hereditary renal cell carcinoma"
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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. | 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/ | 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 | |||
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Latest revision as of 19:56, 25 November 2024
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]
Notes:
- A total of ten hereditary renal cancer syndromes have been described. In eight of the ten the gene is known.[6]
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.[7]
- 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.
- ↑ 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
- ↑ 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