Hereditary leiomyomatosis and renal cell cancer presenting as metastatic kidney cancer at 18 years of age: Implications for surveillance

Familial Cancer

Volumn 11, Issue 1, 2012, Pages 123-129

  Van Spaendonck Zwarts, Karin Y ^a   Badeloe, Sadhanna ^b   Oosting, Sjoukje F ^a   Hovenga, Sjoerd ^c   Semmelink, Harry J F ^d   Van Moorselaar, R Jeroen A ^e   Van Waesberghe, Jan Hein ^e   Mensenkamp, Arjen R ^f   Menko, Fred H ^e  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^b Haaglanden Hospital   (Netherlands)

^c NIJ SMELLINGHE HOSPITAL   (Netherlands)

^d Friesland Pathology ^*  (Netherlands)

^e VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^f RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Fumarate hydratase; Hereditary leiomyomatosis; Papillary renal cancer

Indexed keywords

ARGININE; CD103 ANTIGEN; CYTOKERATIN 18; CYTOKERATIN 8; FUMARATE HYDRATASE; SERINE; SUNITINIB; TEMSIROLIMUS; VIMENTIN;

ABDOMINAL MASS; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BONE METASTASIS; CANCER CHEMOTHERAPY; CANCER EPIDEMIOLOGY; CANCER GROWTH; CANCER MORTALITY; CANCER RISK; CASE REPORT; CERVICAL LYMPHADENOPATHY; COUGHING; EXON; FAMILIAL CANCER; FATIGUE; FEMALE; GENE MUTATION; HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER; HUMAN; HUMAN TISSUE; KIDNEY CARCINOMA; KIDNEY METASTASIS; LEIOMYOMATOSIS; MULTIPLE CYCLE TREATMENT; PAPILLARY CARCINOMA; PLEURA EFFUSION; PLEURODESIS; PRIMARY RENAL CELL PAPILLARY CARCINOMA; PRIORITY JOURNAL; WEIGHT REDUCTION;

ADOLESCENT; CARCINOMA, RENAL CELL; DIAGNOSIS, DIFFERENTIAL; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; KIDNEY NEOPLASMS; LEIOMYOMATOSIS; MALE; PEDIGREE; PROGNOSIS; REVIEW LITERATURE AS TOPIC;

EID: 84858288878     PISSN: 13899600     EISSN: 15737292     Source Type: Journal    
DOI: 10.1007/s10689-011-9491-5     Document Type: Article

References (32)

1. Linehan WM, Srinivasan R, Schmidt LS (2010) The genetic basis of kidney cancer: a metabolic disease. Nat Rev Urol 7:277-285
2. Maher ER (2011) Genetics of familial renal cancers. Nephron Exp Nephrol 118:e21-e26
3. Merino MJ, Torres-Cabala C, Pinto P et al (2007) The morphologic spectrum of kidney tumors in hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome. Am J Surg Pathol 31:1578-1585 (Pubitemid 47482473)
4. Grubb RL III, Franks ME, Toro J et al (2007) Hereditary leiomyomatosis and renal cell cancer: a syndrome associated with an aggressive form of inherited renal cancer. J Urol 177:2074-2080 (Pubitemid 46735952)
5. Lehtonen HJ (2011) Hereditary leiomyomatosis and renal cell cancer: update on clinical and molecular characteristics. Fam Cancer 10:397-411
6. Tomlinson IPM, Alam NA, Rowan AJ et al (2002) The multiple leiomyoma consortium. Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cancer. Nat Genet 30:406-410
7. Alam NA, Barclay E, Rowan AJ et al (2005) Clinical features of multiple cutaneous and uterine leiomyomatosis: an underdiagnosed tumor syndrome. Arch Dermatol 141:199-206 (Pubitemid 40216262)
8. Wei M-H, Toure O, Glenn GM et al (2006) Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer. J Med Genet 43:18-27 (Pubitemid 43099991)
9. Bayley JP, Launonen V, Tomlinson IP (2008) The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency. BMC Med Genet 9:20
10. Vahteristo P, Koski TA, Naatsaari L et al (2010) No evidence for a genetic modifier for renal cancer risk in HLRCC syndrome. Fam Cancer 9:245-251
11. Alrashdi I, Levine S, Paterson J et al (2010) Hereditary leiomyomatosis and renal cell carcinoma: very early diagnosis of renal cancer in a paediatric patient. Fam Cancer 9:239-243
12. Smit DL, Mensenkamp AR, Badeloe S et al (2011) Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis. Clin Genet 79:49-59
13. Badeloe S, van Spaendonck-Zwarts KY, van Steensel MA et al (2009) Wilms tumour as a possible early manifestation of hereditary leiomyomatosis and renal cell cancer? Br J Dermatol 160:707-709
14. Badeloe S, Bladergroen RS, Jonkman MF et al (2008) Hereditary multiple cutaneous leiomyoma resulting from novel mutations in the fumarate hydratase gene. J Dermatol Sci 51:139-143
15. Reed WB, Walker R, Horowitz R (1973) Cutaneous leiomyomata with uterine leiomyomata. Acta Dermat Venereol 53:409-416
16. Chan I, Wong T, Martinez-Mir A et al (2005) Familial multiple cutaneous and uterine leiomyomas associated with papillary renal cancer. Clin Exp Dermatol 30:75-78 (Pubitemid 40188325)
17. Lehtonen HJ, Kiuru M, Ylisaukko-oja SK et al (2006) Increased risk of cancer in patients with fumarate hydratase germline mutation. J Med Genet 43:523-526 (Pubitemid 43927328)
18. Lehtonen HJ, Blanco I, Piulats JM et al (2007) Conventional renal cancer in a patient with fumarate hydratase mutation. Hum Pathol 38:793-796 (Pubitemid 46560795)
19. Al Refae M, Wong N, Patenaude F et al (2007) Hereditary leiomyomatosis and renal cancer: an unusual and aggressive form of hereditary renal carcinoma. Nat Clin Pract Oncol 4:256-261 (Pubitemid 46510535)
20. Ghaninejad H, Moeineddin F, Rajaee A et al (2008) Hereditary leiomyomatosis and renal cell carcinoma syndrome: a case report. Dermatol Online J 14:16
21. Ahvenainen T, Lehtonen HJ, Lehtonen R et al (2008) Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer. Cancer Genet Cytogenet 183:83-88 (Pubitemid 351715396)
22. Rongioletti F, Fausti V, Ferrando B et al (2010) A novel missense mutation in fumarate hydratase in an Italian patient with a diffuse variant of cutaneous leiomyomatosis (Reed's syndrome). Dermatology 221:378-380
23. Gardie B, Remenieras A, Kattygnarath D et al (2011) Novel FH mutations in families with hereditary leiomyomatosis and renal cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma. J Med Genet 48:226-234
24. Yamasaki T, Tran TAT, Oz OK et al (2011) Exploring a glycolytic inhibitor for the treatment of an FH-deficient type-2 papillary RCC. Nat Rev Urol 8:165-171
25. Meister M, Choyke P, Anderson C et al (2009) Radiological evaluation, management, and surveillance of renal masses in Von-Hippel-Lindau disease. Clin Radiol 64:589-600
26. Isaacs JS, Jung YJ, Mole DR et al (2005) HIF overexpression correlates with biallelic loss of fumarate hydratase in renal cancer: novel role of fumarate in regulation of HIF stability. Cancer Cell 8:143-153 (Pubitemid 41132743)
27. Selak MA, Armour SM, MacKenzie ED et al (2005) Succinate links TCA cycle dysfunction to oncogenesis by inhibiting HIFalpha prolyl hydroxylase. Cancer Cell 7:77-85 (Pubitemid 40126384)
28. Choueiri TK, Atkins MB (2009) Targeted therapies: sunitinib in RCC-expanded access equals expanded benefit? Nat Rev Clin Oncol 6:679-680
29. Plimack ER, Tannir N, Lin E, Bekele BN, Jonasch E (2009) Patterns of disease progression in metastatic renal cell carcinoma patients treated with antivascular agents and interferon: impact of therapy on recurrence patterns and outcome measures. Cancer 115:1859-1866
30. Ravaud A, Bello CL (2011) Exposure-response relationships in patients with metastatic renal cell carcinoma receiving sunitinib: maintaining optimum efficacy in clinical practice. Anticancer Drugs 22:377-383
31. Dutcher JP, de Souza P, McDermott D et al (2009) Effect of temsirolimus versus interferon-alpha on outcome of patients with advanced renal cell carcinoma of different tumor histologies. Med Oncol 26:202-209
32. Chuang GS, Martinez-Mir A, Engler DE et al (2006) Multiple cutaneous and uterine leiomyomata resulting from missense mutations in the fumarate hydratase gene. Clin Exp Dermatol 31:118-121