Two cases of nevoid basal cell carcinoma syndrome associated with meningioma caused by a PTCH1 or SUFU germline mutation

Familial Cancer

Volumn 11, Issue 4, 2012, Pages 565-570

  Kijima, Chihiro ^a   Miyashita, Toshiyuki ^b   Suzuki, Maiko ^b   Oka, Hidehiro ^a   Fujii, Kiyotaka ^a  

^a KITASATO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b KITASATO UNIVERSITY   (Japan)

Author keywords

Medulloblastoma; Meningioma; Nevoid basal cell carcinoma syndrome; PTCH1; SUFU

Indexed keywords

PROTEIN PATCHED 1; SONIC HEDGEHOG PROTEIN;

ADULT; AGED; ARTICLE; BASAL CELL NEVUS SYNDROME; CANCER RADIOTHERAPY; CANCER RISK; CASE REPORT; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; CRANIOTOMY; DISEASE ASSOCIATION; FEMALE; GENE; GENE LOCUS; GENE MUTATION; GENETIC PREDISPOSITION; GERMLINE MUTATION; HETEROZYGOTE; HIGH RISK PATIENT; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MALE; MEDULLOBLASTOMA; MENINGIOMA; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PRIORITY JOURNAL; PTCH1 GENE; SEQUENCE ANALYSIS; SOMATIC MUTATION; SUFU GENE;

ADULT; AGED; BASAL CELL NEVUS SYNDROME; FEMALE; GERM-LINE MUTATION; HUMANS; MALE; MENINGEAL NEOPLASMS; MENINGIOMA; PROGNOSIS; RECEPTORS, CELL SURFACE; REPRESSOR PROTEINS;

ERINACEIDAE;

EID: 84870410019     PISSN: 13899600     EISSN: 15737292     Source Type: Journal    
DOI: 10.1007/s10689-012-9548-0     Document Type: Article

References (32)

1. Gorlin RJ, Goltz RW (1960) Multiple nevoid basal-cell epithelioma, jaw cysts and bifid rib a syndrome. N Engl J Med 262:908-912
2. Evans DG, Ladusans EJ, Rimmer S, Burnell LD, Thakker N, Farndon PA (1993) Complications of the naevoid basal cell carcinoma syndrome: results of a population based study. J Med Genet 30:460-464 (Pubitemid 23197262)
3. Shanley S, Ratcliffe J, Hockey A, Haan E, Oley C, Ravine D, Martin N, Wicking C, Chenevix-Trench G (1994) Nevoid basal cell carcinoma syndrome: review of 118 affected individuals. Am J Med Genet 50:282-290 (Pubitemid 24109138)
4. Kimonis VE, Goldstein AM, Pastakia B, Yang ML, Kase R, DiGiovanna JJ, Bale AE, Bale SJ (1997) Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. Am J Med Genet 69:299-308 (Pubitemid 27154674)
5. Endo M, Fujii K, Sugita K, Saito K, Kohno Y, Miyashita T (2012) Nationwide survey of nevoid basal cell carcinoma syndrome in Japan revealing the low frequency of basal cell carcinoma. Am J Med Genet A 158A:351-357
6. Fukushima Y, Oka H, Utsuki S, Iwamoto K, Fujii K (2004) Nevoid Basal cell carcinoma syndrome with medulloblastoma and meningioma -case report. Neurol Med Chir (Tokyo) 44:665-668 (Pubitemid 40040650)
7. Pribila JT, Ronan SM, Trobe JD (2008) Multiple intracranial meningiomas causing papilledema and visual loss in a patient with nevoid Basal cell carcinoma syndrome. J Neuroophthalmol 28:41-46 (Pubitemid 351416891)
8. Johnson RL, Rothman AL, Xie J, Goodrich LV, Bare JW, Bonifas JM, Quinn AG, Myers RM, Cox DR, Epstein EH Jr, Scott MP (1996) Human homolog of patched, a candidate gene for the basal cell nevus syndrome. Science 272:1668-1671 (Pubitemid 26200029)
9. Hahn H, Wicking C, Zaphiropoulous PG, Gailani MR, Shanley S, Chidambaram A, Vorechovsky I, Holmberg E, Unden AB, Gillies S, Negus K, Smyth I, Pressman C, Leffell DJ, Gerrard B, Goldstein AM, Dean M, Toftgard R, Chenevix-Trench G, Wainwright B, Bale AE (1996) Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. Cell 85:841-851 (Pubitemid 26192135)
10. Ingham PW, McMahon AP (2001) Hedgehog signaling in animal development: paradigms and principles. Genes Dev 15:3059-3087 (Pubitemid 33115673)
11. Dunaeva M, Michelson P, Kogerman P, Toftgard R (2003) Characterization of the physical interaction of gli proteins with SUFU proteins. J Biol Chem 278:5116-5122 (Pubitemid 36801022)
12. Svard J, Heby-Henricson K, Persson-Lek M, Rozell B, Lauth M, Bergstro?m A, Ericson J, Toftgård R, Teglund S (2006) Genetic elimination of Suppressor of fused reveals an essential repressor function in the mammalian Hedgehog signaling pathway. Dev Cell 10:187-197 (Pubitemid 43174952)
13. Fujii K, Kohno Y, Sugita K, Nakamura M, Moroi Y, Urabe K, Furue M, Yamada M, Miyashita T (2003) Mutations in the human homologue of Drosophila patched in Japanese nevoid basal cell carcinoma syndrome patients. Hum Mutat 21:451-452
14. Knudson AG Jr (1971) Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci USA 68:820-823
15. Xie J, Murone M, Luoh SM, Ryan A, Gu Q, Zhang C, Bonifas JM, Lam CW, Hynes M, Goddard A, Rosenthal A, Epstein EHJ, de Sauvage FJ (1998) Activating Smoothened mutations in sporadic basal-cell carcinoma. Nature 391:90-92 (Pubitemid 28079221)
16. Tamoney HJ Jr (1969) Basal cell nevoid syndrome. Am Surg 35:279-283
17. Stoelinga PJ, Peters JH, van de Staak WJ, Cohen MM Jr (1973) Some new findings in the basal-cell nevus syndrome. Oral Surg Oral Med Oral Pathol 36:686-692
18. Southwick GJ, Schwartz RA (1979) The basal cell nevus syndrome: disasters occurring among a series of 36 patients. Cancer 44:2294-2305 (Pubitemid 10210862)
19. Mortimer PS, Geaney DP, Liddell K, Dawber RP (1984) Basal cell naevus syndrome and intracranial meningioma. J Neurol Neurosurg Psychiatry 47:210-212 (Pubitemid 14154733)
20. Aumaitre O, Sampoux P, Georget AM, Mondie JM, Thieblot P, Dordain G (1986) Neurologic manifestations of basal cell nevomatosis. A case. Presse Med 15:2105-2107 (Pubitemid 17193086)
21. Jones KL, Wolf PL, Jensen P, Dittrich H, Benirschke K, Bloor C (1986) The Gorlin syndrome: a genetically determined disorder associated with cardiac tumor. Am Heart J 111:1013-1015 (Pubitemid 16092979)
22. Albrecht S, Goodman JC, Rajagopolan S, Levy M, Cech DA, Cooley LD (1994) Malignant meningioma in Gorlińs syndrome: cytogenetic and p53 gene analysis. Case report. J Neurosurg 81:466-471 (Pubitemid 24267658)
23. O'Malley S, Weitman D, Olding M, Sekhar L (1997) Multiple neoplasms following craniospinal irradiation for medulloblastoma in a patient with nevoid basal cell carcinoma syndrome. Case report. J Neurosurg 86:286-288 (Pubitemid 27130689)
24. Tate G, Li M, Suzuki T, Mitsuya T (2003) A new germline mutation of the PTCH gene in a Japanese patient with nevoid basal cell carcinoma syndrome associated with meningioma. Jpn J Clin Oncol 33:47-50 (Pubitemid 43102881)
25. Campbell RM, Mader RD, Dufresne RG Jr (2005) Meningiomas after medulloblastoma irradiation treatment in a patient with basal cell nevus syndrome. J Am Acad Dermatol 53:S256-S259 (Pubitemid 41443483)
26. Evans DG, Birch JM, Orton CI (1991) Brain tumours and the occurrence of severe invasive basal cell carcinoma in first degree relatives with Gorlin syndrome. Br J Neurosurg 5:643-646
27. Taylor MD, Liu L, Raffel C, Hui CC, Mainprize TG, Zhang X, Agatep R, Chiappa S, Gao L, Lowrance A, Hao A, Goldstein AM, Stavrou T, Scherer SW, Dura WT, Wainwright B, Squire JA, Rutka JT, Hogg D (2002) Mutations in SUFU predispose to medulloblastoma. Nat Genet 31:306-310
28. Pastorino L, Ghiorzo P, Nasti S, Battistuzzi L, Cusano R, Marzocchi C, Garrè ML, Clementi M, Scarrà GB (2009) Identification of a SUFU germline mutation in a family with gorlin syndrome. Am J Med Genet A 149A:1539-1543
29. Evans DG, Farndon PA, Burnell LD, Gattamaneni HR, Birch JM (1991) The incidence of Gorlin syndrome in 173 consecutive cases of medulloblastoma. Br J Cancer 64:959-961
30. Amlashi SF, Riffaud L, Brassier G, Morandi X (2003) Nevoid basal cell carcinoma syndrome: relation with desmoplastic medulloblastoma in infancy. A population-based study and review of the literature. Cancer 98:618-624 (Pubitemid 36886004)
31. Schofield D, West DC, Anthony DC, Marshal R, Sklar J (1995) Correlation of loss of heterozygosity at chromosome 9q with histological subtype in medulloblastomas. Am J Pathol 146:472-480
32. Cowan R, Hoban P, Kelsey A, Birch JM, Gattamaneni R, Evans DG (1997) The gene for the naevoid basal cell carcinoma syndrome acts as a tumour-suppressor gene in medulloblastoma. Br J Cancer 76:141-145 (Pubitemid 27279651)