TSC-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.

Types

 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)

• pancreatic somatostatinoma (18672238)

 Broncheoalveolar carcinoma associated with pulmonary lymphangioleiomyomatosis (21513862)

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

References

 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]