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TSC-associated carcinomas

Thursday 22 December 2011

TSC-associated carcinoma; tuberous sclerosis complex-associated carcinomas; tuberous sclerosis-associated carcinomas

Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disease manifesting as hamartomatous involvement of several organs, including brain, kidneys, skin, heart, lungs, and retina.


- clear cell renal cell carcinoma (rare)

  • Renal cell carcinoma (RCC) associated with tuberous sclerosis (TSC) has been reported in adult patients.
  • This association is very rare in children. (22008361)
  • infantile papillary RCC (22008361)
  • infantile clear cell-type RCC (22008361)
  • Possible coexistence of Renal Epithelioid Angiomyolipoma and Clear Cell Carcinoma (21742645, 20111634)
  • Renal cell carcinoma (RCC) and angiomyolipoma (AML), usually unassociated, have occasionally been reported to coexist in the same person, usually in patients with tuberous sclerosis.

- pancreatic neuroendocrine carcinoma (22173120)

- Broncheoalveolar carcinoma associated with pulmonary lymphangioleiomyomatosis (21513862)

- medullary thyroid carcinoma (19424876)
- mammary carcinoma (18308125)
- hepatocellular carcinoma (18205279)
- endometrial adenocarcinoma (15882396)


- Well-differentiated Pancreatic Neuroendocrine Carcinoma in Tuberous Sclerosis-Case Report and Review of the Literature. Arva NC, Pappas JG, Bhatla T, Raetz EA, Macari M, Ginsburg HB, Hajdu CH. Am J Surg Pathol. 2012 Jan;36(1):149-53. PMID: 22173120

- Two different types of infantile renal cell carcinomas associated with tuberous sclerosis. Kubo M, Iwashita K, Oyachi N, Oyama T, Yamamoto T. J Pediatr Surg. 2011 Oct;46(10):E37-41. PMID: 22008361

- Coexistence of Renal Epithelioid Angiomyolipoma and Clear Cell Carcinoma in Patients Without Tuberous Sclerosis. Cao QH, Liu F, Xiao P, Tian XY, Li B, Li Z. Int J Surg Pathol. 2011 Jul 7. PMID: 21742645

- Broncheoalveolar carcinoma associated with pulmonary lymphangioleiomyomatosis and Tuberous Sclerosis Complex: case report. Carneiro C, Gupta N. Clin Imaging. 2011 May-Jun;35(3):225-7. PMID: 21513862

- Concurrent bilateral renal angiomyolipoma and renal cell carcinoma in a patient with tuberous sclerosis complex. Khallouk A, Ahallal Y, Doublali M, Tazi MF, Mellas S, El Fassi MJ, Farih MH. Rev Urol. 2009 Fall;11(4):216-8. PMID: 20111634

- Medullary thyroid carcinoma and tuberous sclerosis. Dicorato P, Calvanese A, Maiuolo A, D’Alessandri M, Grani G, Ruggieri M, Fumarola A. Endocr Pathol. 2009 Summer;20(2):141-4. PMID: 19424876

- Pancreatic somatostatinoma and tuberous sclerosis: case report of an exceedingly rare association. Sreenarasimhaiah J, Armstrong LA, Tang SJ, Barnett C. Gastrointest Endosc. 2009 Feb;69(2):379-81. PMID: 18672238

- Metastatic breast carcinoma to renal angiomyolipomas in tuberous sclerosis. Williams TR, Oakes MF. Urology. 2008 Feb;71(2):352.e5-7. PMID: 18308125

- Coincidence of hepatocellular carcinoma and hepatic angiomyolipomas in tuberous sclerosis complex: a case report. Yang B, Chen WH, Shi PZ, Xiang JJ, Xu RJ, Liu JH. World J Gastroenterol. 2008 Feb 7;14(5):812-4. PMID: 18205279 [Free]