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Günaldi M, Paydas S, Afsar CU, Doran F
Correspondence: Dr Meral Günaldi, meralgunaldi@gmail.com
ABSTRACT
Tuberous sclerosis complex (TSC) is a multisystem genetic disorder characterised by widespread hamartomas in organs such as the skin, brain, heart, lung, liver and kidney. Although associations of TSC with hamartomas, angiomyolipomas and fibromas have been reported, there has been no report of its association with malignant melanoma. Herein, we describe a 31-year-old man with malignant melanoma associated with TSC. The patient had a history of epilepsia, multiple hypomelanotic macules, periungual fibromas and multiple hepatic lesions. Malignant melanoma was diagnosed by hepatic biopsy. To the best of our knowledge, this is the first report of malignant melanoma coexisting with TSC in the literature. We also present and discuss the imaging findings, prognosis, underlying mechanisms and practical approaches in relation to the disease.
Keywords: angiofibroma, malignant melanoma, neurofibroma, tuberous sclerosis, tumourigenesis
Singapore Med J 2013; 54(11): e233-e235; http://dx.doi.org/10.11622/smedj.2013233
REFERENCES
| 1. Bjornsson J, Short MP, Kwiatkowski DJ, Henske EP. Tuberous sclerosisassociated renal cell carcinoma. Clinical, pathological, and genetic features. Am J Pathol 1996; 149:1201-8. | ||||
| 2. Osborne JP, Fryer A, Webb D. Epidemiology of tuberous sclerosis. Ann N Y Acad Sci 1991; 615:125-7. http://dx.doi.org/10.1111/j.1749-6632.1991.tb37754.x | ||||
| 3. Dabora SL, Jozwiak S, Franz DN, et al. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. Am J Hum Genet 2001; 68:64-80. http://dx.doi.org/10.1086/316951 | ||||
| 4. Ahmed S, Burney I, Sawhney S, Al-Moundhri MS. Gastric Adenocarcinoma in Association with Tuberous Sclerosis: Case report. Sultan Qaboos Univ Med J 2009; 9:75-8. | ||||
| 5. Curatolo P, Bombardieri R, Jozwiak S. Tuberous sclerosis. Lancet 2008; 372:657- 68. http://dx.doi.org/10.1016/S0140-6736(08)61279-9 | ||||
| 6. Schwartz RA, Fernández G, Kotulska K, Jó?wiak S. Tuberous sclerosis complex: advances in diagnosis, genetics, and management. J Am Acad Dermatol. 2007; 57:189-202. http://dx.doi.org/10.1016/j.jaad.2007.05.004 | ||||
| 7. Fisher DE, Kwong LN, Chin L. Melanoma. In: DeVita VT, Hellman S, Rosenberg SA, eds. Cancer: principles & practice of oncology, 8th ed. Philadelphia: Lippincott Williams & Wilkins, 2008; 1891-1893. | ||||
| 8. Bonetti F, Martignoni G, Colato C, et al. Abdominopelvic sarcoma of perivascular epithelioid cells. Report of four cases in young women, one with tuberous sclerosis. Mod Pathol 2001; 14:563-8. http://dx.doi.org/10.1038/modpathol.3880351 | ||||
| 9. Williams TR, Oakes MF. Metastatic breast carcinoma to renal angiomyolipomas in tuberous sclerosis. Urology 2008; 71:352.e5-7. | ||||
| 10. Yang B, Chen WH, Shi PZ, et al. Coincidence of hepatocelluar carcinoma and hepatic angiomyolipomas in tuberous sclerosis complex: a case report. World J Gastroenterol 2008; 14:812-4. http://dx.doi.org/10.3748/wjg.14.812 | ||||
| 11. Sreenarasimhaiah J, Armstrong LA, Tang SJ, Barnett C. Pancreatic somatostatinoma and tuberous sclerosis: case report of an exceedingly rare association. Gastrointest Endosc 2009; 69:379-81. http://dx.doi.org/10.1016/j.gie.2008.04.057 | ||||
| 12. Rai S, Kalakoti P, Syed MA, et al. An unusual case of congenital melanocytic nevus presenting as neurocutaneous melanoma coexisting with Tuberous Sclerosis complex: A case report. J Med Case Rep 2011; 5:267. http://dx.doi.org/10.1186/1752-1947-5-267 | ||||
| 13. Tandstad T, Indrebø G. Testicular cancer and the tuberous sclerosis complex. Acta Oncol. 2012; 51:262-5. http://dx.doi.org/10.3109/0284186X.2011.587450 | ||||
| 14. Johannessen CM, Reczek EE, James MF, et al. The NF1 tumor suppressor critically regulates TSC2 and mTOR. Proc Natl Acad Sci USA 2005; 102:8573-8. http://dx.doi.org/10.1073/pnas.0503224102 | ||||
| 15. Gerstenblith MR, Goldstein AM, Tucker MA. Hereditary genodermatoses with cancer predisposition. Hematol Oncol Clin North Am 2010; 24:885-906. http://dx.doi.org/10.1016/j.hoc.2010.06.003 | ||||