The dermatologist's guide to hereditary syndromes with renal tumors

Cutis

Volumn 81, Issue 1, 2008, Pages 41-48

  Ferzli, Pascal G ^a   Millett, Christian R ^a   Newman, Marissa D ^b   Heymann, Warren R ^a,c  

^a RUTGERS ROBERT WOOD JOHNSON MEDICAL SCHOOL   (United States)

^b NORTH SHORE UNIVERSITY HOSPITAL   (United States)

^c Division of Female Pelvic Medicine and Reconstructive Surgery   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CLASSIFICATION; FAMILIAL CANCER; GENE TRANSLOCATION; GENETIC DISORDER; GENETICS; HUMAN; KIDNEY TUMOR; LEIOMYOMATOSIS; PROGNOSIS; REVIEW; SKIN TUMOR; TUBEROUS SCLEROSIS; VON HIPPEL LINDAU DISEASE;

GENETIC DISEASES, INBORN; HUMANS; KIDNEY NEOPLASMS; LEIOMYOMATOSIS; NEOPLASTIC SYNDROMES, HEREDITARY; PROGNOSIS; SKIN NEOPLASMS; TRANSLOCATION, GENETIC; TUBEROUS SCLEROSIS; VON HIPPEL-LINDAU DISEASE;

EID: 39049131680     PISSN: 00114162     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (34)

1. Pavlovich CP, Schmidt LS, Phillips JL. The genetic basis of renal cell carcinoma. Urol Clin North Am. 2003;30: 437-454, vii.
2. Choyke PL, Glenn GM, Walther MM, et al. Hereditary renal cancers. Radiology. 2003;226:33-46.
3. Schmidt LS. Birt-Hogg-Dube syndrome, a genodermatosis that increases risk for renal carcinoma. Curr Mol Med. 2004;4:877-885.
4. Hes O, Brunelli M, Michal M, et al. Oncocytic papillary renal cell carcinoma: a clinicopathologic, immunohistochemical, ultrastructural, and interphase cytogenetic study of 12 cases. Ann Diagn Pathol. 2006;10: 133-139.
5. Amin MB, Grotty TB, Tickoo SK, et al. Renal oncocytoma: a reappraisal of morphologic features with clinicopathologic findings in 80 cases [published correction appears in Am J Surg Pathol. 1997;21:742]. Am J Surg Pathol. 1997;21:1-12.
6. Greenland JE, Weston PM, Wallace DM. Familial transitional cell carcinoma and the Lynch syndrome II. Br J Urol. 1993;72:177-180.
7. O'Hagan AR, Ellsworth R, Secic M, et al. Renal manifestations of tuberous sclerosis complex. Clin Pediatr (Phila). 1996;35:483-489.
8. Goldman L, Ausiello D, eds. Cecil Textbook of Medicine. 22nd ed. Philadelphia, PA: WB Saunders & Co; 2004.
9. Kontak JA, Campbell SC. Prognostic factors in renal cell carcinoma. Urol Clin North Am. 2003;30:467-480.
10. Hutson TE. Renal cell carcinoma: diagnosis and treatment, 1994-2003. Proc (Bayl Univ Med Cent). 2005;18:337-340.
11. El-Galley R. Surgical management of renal tumors. Radiol Clin North Am. 2003;41:1053-1065, vii.
12. Michael A, Pandha HS. Renal-cell carcinoma: tumour markers, T-cell epitopes, and potential for new therapies. Lancet Oncol. 2003;4:215-223.
13. Patel PH, Chaganti RS, Motzer RJ. Targeted therapy for metastatic renal cell carcinoma. Br J Cancer. 2006;94: 614-619.
14. Latif F, Tory K, Gnarra J, et al. Identification of the von Hippel-Lindau disease tumor suppressor gene. Science. 1993;260:1317-1320.
15. Neumann HP, Wiestler OD. Clustering of features of von Hippel-Lindau syndrome: evidence for a complex genetic locus. Lancet. 1991;337:1052-1054.
16. Maher ER, Iselius L, Yates JR, et al. von Hippel-Lindau disease: a genetic study. J Med Genet. 1991;28: 443-447.
17. Linehan WM, Vasselli J, Srinivasan R, et al. Genetic basis of cancer of the kidney: disease-specific approaches to therapy. Clin Cancer Res. 2004;10(18, pt 2): 6282S-6289S.
18. Lonser RR, Glenn GM, Walther M, et al. von Hippel-Lindau disease. Lancet. 2003;361:2059-2067.
19. Horton WA, Wong V, Eldridge R. von Hippel-Lindau disease: clinical and pathological manifestations in nine families with 50 affected members. Arch Intern Med. 1976;136:769-777.
20. Vincent A, Parley M, Chan E, et al. Birt-Hogg-Dube syndrome: a review of the literature and the differential diagnosis of firm facial papules. J Am Acad Dermatol. 2003;49:698-705.
21. da Silva NF, Gentle D, Hesson LB, et al. Analysis of the Birt-Hogg-Dubé (BHD) tumour suppressor gene in sporadic renal cell carcinoma and colorectal cancer. J Med Genet. 2003;40:820-824.
22. Schmidt LS, Nickerson ML, Warren MB, et al. Germ-line BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome. Am J Hum Genet. 2005;76:1023-1033. Epub April 25, 2005.
23. Zbar B, Alvord WG, Glenn G, et al. Risk or renal and colonie neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dube syndrome. Cancer Epidemiol Biomarkers Prev. 2002;11:393-400.
24. Welsch MJ, Krunic A, Medenica MM. Birt-Hogg-Dubé syndrome. Int J Dermatol. 2005;44:668-673.
25. Clinical features of tuberous sclerosis complex. Children's Hospital of St. Louis Web site, http: //www.stlouischildrens.org/tabid/91/itemid/3705 /Clinical-Features-of-Tuberous-Sclerosis-Complex.aspx. Accessed September 20, 2006.
26. Kwiatkowski DJ, Manning BD. Tuberous sclerosis: a GAP at the crossroads of multiple signaling pathways. Hum Mol Genet. 2005;14 spec no. 2:R251-R258.
27. Kawaguchi K, Oda Y, Nakanishi K, et al. Malignant transformation of renal angiomyolipoma: a case report. Am J Surg Pathol. 2002;26:523-529.
28. Hornick JL, Fletcher CD. PEComa: what do we know so far? Histopathology. 2006;48:75-82.
29. Pan CC, Jong YJ, Chai CY, et al. Comparative genomic hybridization study of perivascular epithelioid cell tumor: molecular genetic evidence of perivascular epithelioid cell tumor as a distinctive neoplasm. Hum Pathol. 2006;37: 606-612.
30. Alam NA, Barclay E, Rowan AJ, et al. Clinical features of multiple cutaneous and uterine leiomyomatosis: an underdiagnosed tumor syndrome. Arch Dermatol. 2005;141:199-206.
31. Heymann WR. Cutaneous manifestations of hereditary syndromes. J Am Acad Dermatol. 2006;54: 505-506.
32. Chuang GS, Martinez-Mir A, Engler DE, et al. Multiple cutaneous and uterine leiomyomata resulting from missense mutations in the fumarate hydratase gene. Clin Exp Dermatol. 2006;31:118-121.
33. Toro JR, Nickerson ML, Wei MH, et al. Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America. Am J Hum Genet. 2003;73:95-106. Epub May 22, 2003.
34. Hélénon O, Correas JM, Balleyguier C, et al. Ultrasound of renal tumors. Eur Radiol. 2001;11:1890-1901.