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Nevoid Basal Cell Carcinoma Syndrome Associated Medulloblastoma

MedGen UID:
277414
•Concept ID:
C1334963
•
Neoplastic Process

Definition

A medulloblastoma developing in patients with multiple basal cell carcinomas. It is observed in patients with nevoid basal cell carcinoma syndrome and it is associated with PTCH gene inactivation. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNevoid Basal Cell Carcinoma Syndrome Associated Medulloblastoma

Professional guidelines

PubMed

First evidence of genotype-phenotype correlations in Gorlin syndrome.
Evans DG, Oudit D, Smith MJ, Rutkowski D, Allan E, Newman WG, Lear JT
J Med Genet 2017 Aug;54(8):530-536. Epub 2017 Jun 8 doi: 10.1136/jmedgenet-2017-104669. PMID: 28596197
Primary malignant skin tumors in children: etiology, treatment and prognosis.
Varan A, Gököz A, Akyüz C, Kutluk T, Yalçin B, Köksal Y, Büyükpamukçu M
Pediatr Int 2005 Dec;47(6):653-7. doi: 10.1111/j.1442-200x.2005.02145.x. PMID: 16354219

Recent clinical studies

Etiology

Medulloblastoma and other neoplasms in patients with heterozygous germline SUFU variants: A scoping review.
Lee SG, Evans G, Stephen M, Goren R, Bondy M, Goodman S
Am J Med Genet A 2024 Jun;194(6):e63496. Epub 2024 Jan 28 doi: 10.1002/ajmg.a.63496. PMID: 38282294
Germline SUFU mutation carriers and medulloblastoma: clinical characteristics, cancer risk, and prognosis.
Guerrini-Rousseau L, Dufour C, Varlet P, Masliah-Planchon J, Bourdeaut F, Guillaud-Bataille M, Abbas R, Bertozzi AI, Fouyssac F, Huybrechts S, Puget S, Bressac-De Paillerets B, Caron O, Sevenet N, Dimaria M, Villebasse S, Delattre O, Valteau-Couanet D, Grill J, Brugières L
Neuro Oncol 2018 Jul 5;20(8):1122-1132. doi: 10.1093/neuonc/nox228. PMID: 29186568Free PMC Article
Cancer Surveillance in Gorlin Syndrome and Rhabdoid Tumor Predisposition Syndrome.
Foulkes WD, Kamihara J, Evans DGR, Brugières L, Bourdeaut F, Molenaar JJ, Walsh MF, Brodeur GM, Diller L
Clin Cancer Res 2017 Jun 15;23(12):e62-e67. doi: 10.1158/1078-0432.CCR-17-0595. PMID: 28620006Free PMC Article
Medulloblastoma variants: age-dependent occurrence and relation to Gorlin syndrome--a new clinical perspective.
Garrè ML, Cama A, Bagnasco F, Morana G, Giangaspero F, Brisigotti M, Gambini C, Forni M, Rossi A, Haupt R, Nozza P, Barra S, Piatelli G, Viglizzo G, Capra V, Bruno W, Pastorino L, Massimino M, Tumolo M, Fidani P, Dallorso S, Schumacher RF, Milanaccio C, Pietsch T
Clin Cancer Res 2009 Apr 1;15(7):2463-71. Epub 2009 Mar 10 doi: 10.1158/1078-0432.CCR-08-2023. PMID: 19276247
Deletion analysis of the adenomatous polyposis coli and PTCH gene loci in patients with sporadic and nevoid basal cell carcinoma syndrome-associated medulloblastoma.
Vortmeyer AO, Stavrou T, Selby D, Li G, Weil RJ, Park WS, Moon YW, Chandra R, Goldstein AM, Zhuang Z
Cancer 1999 Jun 15;85(12):2662-7. PMID: 10375116

Diagnosis

Medulloblastoma and other neoplasms in patients with heterozygous germline SUFU variants: A scoping review.
Lee SG, Evans G, Stephen M, Goren R, Bondy M, Goodman S
Am J Med Genet A 2024 Jun;194(6):e63496. Epub 2024 Jan 28 doi: 10.1002/ajmg.a.63496. PMID: 38282294
Germline SUFU mutation carriers and medulloblastoma: clinical characteristics, cancer risk, and prognosis.
Guerrini-Rousseau L, Dufour C, Varlet P, Masliah-Planchon J, Bourdeaut F, Guillaud-Bataille M, Abbas R, Bertozzi AI, Fouyssac F, Huybrechts S, Puget S, Bressac-De Paillerets B, Caron O, Sevenet N, Dimaria M, Villebasse S, Delattre O, Valteau-Couanet D, Grill J, Brugières L
Neuro Oncol 2018 Jul 5;20(8):1122-1132. doi: 10.1093/neuonc/nox228. PMID: 29186568Free PMC Article
Cancer Surveillance in Gorlin Syndrome and Rhabdoid Tumor Predisposition Syndrome.
Foulkes WD, Kamihara J, Evans DGR, Brugières L, Bourdeaut F, Molenaar JJ, Walsh MF, Brodeur GM, Diller L
Clin Cancer Res 2017 Jun 15;23(12):e62-e67. doi: 10.1158/1078-0432.CCR-17-0595. PMID: 28620006Free PMC Article
Nevoid basal cell carcinoma syndrome.
Bale AE, Gailani MR, Leffell DJ
J Invest Dermatol 1994 Nov;103(5 Suppl):126S-130S. doi: 10.1111/1523-1747.ep12399438. PMID: 7963674
Nevoid basal-cell carcinoma syndrome.
Gorlin RJ
Medicine (Baltimore) 1987 Mar;66(2):98-113. doi: 10.1097/00005792-198703000-00002. PMID: 3547011

Therapy

Elucidating the role of molecular signaling pathways in the tumorigenesis of basal cell carcinoma.
Tang JY
Semin Cutan Med Surg 2011 Dec;30(4 Suppl):S6-9. doi: 10.1016/j.sder.2011.11.001. PMID: 22177103
Sinonasal carcinoma after irradiation for medulloblastoma in nevoid basal cell carcinoma syndrome.
Wallin JL, Tanna N, Misra S, Puri PK, Sadeghi N
Am J Otolaryngol 2007 Sep-Oct;28(5):360-2. doi: 10.1016/j.amjoto.2006.10.006. PMID: 17826543

Prognosis

Germline SUFU mutation carriers and medulloblastoma: clinical characteristics, cancer risk, and prognosis.
Guerrini-Rousseau L, Dufour C, Varlet P, Masliah-Planchon J, Bourdeaut F, Guillaud-Bataille M, Abbas R, Bertozzi AI, Fouyssac F, Huybrechts S, Puget S, Bressac-De Paillerets B, Caron O, Sevenet N, Dimaria M, Villebasse S, Delattre O, Valteau-Couanet D, Grill J, Brugières L
Neuro Oncol 2018 Jul 5;20(8):1122-1132. doi: 10.1093/neuonc/nox228. PMID: 29186568Free PMC Article
Medulloblastoma variants: age-dependent occurrence and relation to Gorlin syndrome--a new clinical perspective.
Garrè ML, Cama A, Bagnasco F, Morana G, Giangaspero F, Brisigotti M, Gambini C, Forni M, Rossi A, Haupt R, Nozza P, Barra S, Piatelli G, Viglizzo G, Capra V, Bruno W, Pastorino L, Massimino M, Tumolo M, Fidani P, Dallorso S, Schumacher RF, Milanaccio C, Pietsch T
Clin Cancer Res 2009 Apr 1;15(7):2463-71. Epub 2009 Mar 10 doi: 10.1158/1078-0432.CCR-08-2023. PMID: 19276247
Nevoid basal cell carcinoma syndrome: relation with desmoplastic medulloblastoma in infancy. A population-based study and review of the literature.
Amlashi SF, Riffaud L, Brassier G, Morandi X
Cancer 2003 Aug 1;98(3):618-24. doi: 10.1002/cncr.11537. PMID: 12879481
Complications of the naevoid basal cell carcinoma syndrome: results of a population based study.
Evans DG, Ladusans EJ, Rimmer S, Burnell LD, Thakker N, Farndon PA
J Med Genet 1993 Jun;30(6):460-4. doi: 10.1136/jmg.30.6.460. PMID: 8326488Free PMC Article
Medulloblastoma in the nevoid basal-cell carcinoma syndrome: case reports and review of the literature.
Lacombe D, Chateil JF, Fontan D, Battin J
Genet Couns 1990;1(3-4):273-7. PMID: 2098052

Clinical prediction guides

Germline SUFU mutation carriers and medulloblastoma: clinical characteristics, cancer risk, and prognosis.
Guerrini-Rousseau L, Dufour C, Varlet P, Masliah-Planchon J, Bourdeaut F, Guillaud-Bataille M, Abbas R, Bertozzi AI, Fouyssac F, Huybrechts S, Puget S, Bressac-De Paillerets B, Caron O, Sevenet N, Dimaria M, Villebasse S, Delattre O, Valteau-Couanet D, Grill J, Brugières L
Neuro Oncol 2018 Jul 5;20(8):1122-1132. doi: 10.1093/neuonc/nox228. PMID: 29186568Free PMC Article
Molecular analysis of keratocystic odontogenic tumor cell lines derived from sporadic and basal cell nevus syndrome patients.
Noguchi K, Wakai K, Kiyono T, Kawabe M, Yoshikawa K, Hashimoto-Tamaoki T, Kishimoto H, Nakano Y
Int J Oncol 2017 Dec;51(6):1731-1738. Epub 2017 Oct 9 doi: 10.3892/ijo.2017.4146. PMID: 29039452
SHH desmoplastic/nodular medulloblastoma and Gorlin syndrome in the setting of Down syndrome: case report, molecular profiling, and review of the literature.
Mangum R, Varga E, Boué DR, Capper D, Benesch M, Leonard J, Osorio DS, Pierson CR, Zumberge N, Sahm F, Schrimpf D, Pfister SM, Finlay JL
Childs Nerv Syst 2016 Dec;32(12):2439-2446. Epub 2016 Jul 21 doi: 10.1007/s00381-016-3185-0. PMID: 27444290
Medulloblastoma variants: age-dependent occurrence and relation to Gorlin syndrome--a new clinical perspective.
Garrè ML, Cama A, Bagnasco F, Morana G, Giangaspero F, Brisigotti M, Gambini C, Forni M, Rossi A, Haupt R, Nozza P, Barra S, Piatelli G, Viglizzo G, Capra V, Bruno W, Pastorino L, Massimino M, Tumolo M, Fidani P, Dallorso S, Schumacher RF, Milanaccio C, Pietsch T
Clin Cancer Res 2009 Apr 1;15(7):2463-71. Epub 2009 Mar 10 doi: 10.1158/1078-0432.CCR-08-2023. PMID: 19276247
Nevoid basal-cell carcinoma syndrome.
Gorlin RJ
Medicine (Baltimore) 1987 Mar;66(2):98-113. doi: 10.1097/00005792-198703000-00002. PMID: 3547011

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