U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Familial Adenomatous Polyposis Associated Medulloblastoma

MedGen UID:
234263
•Concept ID:
C1333598
•
Neoplastic Process
Synonym: FAP Associated Medulloblastoma

Definition

A medulloblastoma developing in patients with familiar adenomatous polyposis syndrome. It is observed in patients with Turcot syndrome, type 2. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial Adenomatous Polyposis Associated Medulloblastoma

Professional guidelines

PubMed

ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis).
Hegde M, Ferber M, Mao R, Samowitz W, Ganguly A; Working Group of the American College of Medical Genetics and Genomics (ACMG) Laboratory Quality Assurance Committee
Genet Med 2014 Jan;16(1):101-16. Epub 2013 Dec 5 doi: 10.1038/gim.2013.166. PMID: 24310308

Recent clinical studies

Etiology

First report of medulloblastoma in a patient with MUTYH-associated polyposis.
Villy MC, Warcoin M, Filser M, Buecher B, Golmard L, Suybeng V, Schwartz M, Bieche I, Vacher S, Laurence V, Bourdeaut F, Bernier M, Gutman T, Stoppa-Lyonnet D, Masliah-Planchon J, Colas C
Neuropathol Appl Neurobiol 2023 Aug;49(4):e12929. doi: 10.1111/nan.12929. PMID: 37524406
Novel neoplasms associated with syndromic pediatric medulloblastoma: integrated pathway delineation for personalized therapy.
Georgescu MM, Whipple SG, Notarianni CM
Cell Commun Signal 2022 Aug 17;20(1):123. doi: 10.1186/s12964-022-00930-3. PMID: 35978432Free PMC Article
A Multi-Institutional Cohort of Therapy-Associated Polyposis in Childhood and Young Adulthood Cancer Survivors.
Biller LH, Ukaegbu C, Dhingra TG, Burke CA, Chertock Y, Chittenden A, Church JM, Koeppe ES, Leach BH, Levinson E, Lim RM, Lutz M, Salo-Mullen E, Sheikh R, Idos G, Kastrinos F, Stoffel E, Weiss JM, Hall MJ, Kalady MF, Stadler ZK, Syngal S, Yurgelun MB
Cancer Prev Res (Phila) 2020 Mar;13(3):291-298. Epub 2020 Feb 12 doi: 10.1158/1940-6207.CAPR-19-0416. PMID: 32051178Free PMC Article
An update on the CNS manifestations of brain tumor polyposis syndromes.
Kim B, Tabori U, Hawkins C
Acta Neuropathol 2020 Apr;139(4):703-715. Epub 2020 Jan 22 doi: 10.1007/s00401-020-02124-y. PMID: 31970492
Medulloblastomas associated with an APC germline pathogenic variant share the good prognosis of CTNNB1-mutated medulloblastomas.
Surun A, Varlet P, Brugières L, Lacour B, Faure-Conter C, Leblond P, Bertozzi-Salomon AI, Berger C, André N, Sariban E, Raimbault S, Prieur F, Desseigne F, Zattara H, Guimbaud R, Polivka M, Delisle MB, Vasiljevic A, Maurage CA, Figarella-Branger D, Coulet F, Guerrini-Rousseau L, Alapetite C, Dufour C, Colas C, Doz F, Bourdeaut F
Neuro Oncol 2020 Jan 11;22(1):128-138. doi: 10.1093/neuonc/noz154. PMID: 31504825Free PMC Article

Diagnosis

Novel neoplasms associated with syndromic pediatric medulloblastoma: integrated pathway delineation for personalized therapy.
Georgescu MM, Whipple SG, Notarianni CM
Cell Commun Signal 2022 Aug 17;20(1):123. doi: 10.1186/s12964-022-00930-3. PMID: 35978432Free PMC Article
Systemic considerations with pigmented fundus lesions and retinal pigment epithelium hamartomas in Turcot syndrome.
Mokhashi N, Cai LZ, Shields CL, Benson WE, Ho AC
Curr Opin Ophthalmol 2021 Nov 1;32(6):567-573. doi: 10.1097/ICU.0000000000000798. PMID: 34456292
Medulloblastoma and familial adenomatous polyposis: Good prognosis and good quality of life in the long-term?
Massimino M, Signoroni S, Boschetti L, Chiapparini L, Erbetta A, Biassoni V, Schiavello E, Ferrari A, Spreafico F, Terenziani M, Chiaravalli S, Puma N, Bergamaschi L, Ricci MT, Cattaneo L, Gattuso G, Buttarelli FR, Gianno F, Miele E, Poggi G, Vitellaro M
Pediatr Blood Cancer 2021 Apr;68(4):e28912. Epub 2021 Jan 18 doi: 10.1002/pbc.28912. PMID: 33459525
A Multi-Institutional Cohort of Therapy-Associated Polyposis in Childhood and Young Adulthood Cancer Survivors.
Biller LH, Ukaegbu C, Dhingra TG, Burke CA, Chertock Y, Chittenden A, Church JM, Koeppe ES, Leach BH, Levinson E, Lim RM, Lutz M, Salo-Mullen E, Sheikh R, Idos G, Kastrinos F, Stoffel E, Weiss JM, Hall MJ, Kalady MF, Stadler ZK, Syngal S, Yurgelun MB
Cancer Prev Res (Phila) 2020 Mar;13(3):291-298. Epub 2020 Feb 12 doi: 10.1158/1940-6207.CAPR-19-0416. PMID: 32051178Free PMC Article
Turcot's syndrome.
Anseline PF
Aust N Z J Surg 1992 Jul;62(7):587-90. doi: 10.1111/j.1445-2197.1992.tb07056.x. PMID: 1319138

Therapy

A Multi-Institutional Cohort of Therapy-Associated Polyposis in Childhood and Young Adulthood Cancer Survivors.
Biller LH, Ukaegbu C, Dhingra TG, Burke CA, Chertock Y, Chittenden A, Church JM, Koeppe ES, Leach BH, Levinson E, Lim RM, Lutz M, Salo-Mullen E, Sheikh R, Idos G, Kastrinos F, Stoffel E, Weiss JM, Hall MJ, Kalady MF, Stadler ZK, Syngal S, Yurgelun MB
Cancer Prev Res (Phila) 2020 Mar;13(3):291-298. Epub 2020 Feb 12 doi: 10.1158/1940-6207.CAPR-19-0416. PMID: 32051178Free PMC Article
beta-Catenin status predicts a favorable outcome in childhood medulloblastoma: the United Kingdom Children's Cancer Study Group Brain Tumour Committee.
Ellison DW, Onilude OE, Lindsey JC, Lusher ME, Weston CL, Taylor RE, Pearson AD, Clifford SC; United Kingdom Children's Cancer Study Group Brain Tumour Committee
J Clin Oncol 2005 Nov 1;23(31):7951-7. doi: 10.1200/JCO.2005.01.5479. PMID: 16258095
Pineoblastoma presenting in familial adenomatous polyposis (FAP): random association, FAP variant or Turcot syndrome?
Ikeda J, Sawamura Y, van Meir EG
Br J Neurosurg 1998 Dec;12(6):576-8. doi: 10.1080/02688699844475. PMID: 10070471

Prognosis

Medulloblastoma and familial adenomatous polyposis: Good prognosis and good quality of life in the long-term?
Massimino M, Signoroni S, Boschetti L, Chiapparini L, Erbetta A, Biassoni V, Schiavello E, Ferrari A, Spreafico F, Terenziani M, Chiaravalli S, Puma N, Bergamaschi L, Ricci MT, Cattaneo L, Gattuso G, Buttarelli FR, Gianno F, Miele E, Poggi G, Vitellaro M
Pediatr Blood Cancer 2021 Apr;68(4):e28912. Epub 2021 Jan 18 doi: 10.1002/pbc.28912. PMID: 33459525
Medulloblastomas associated with an APC germline pathogenic variant share the good prognosis of CTNNB1-mutated medulloblastomas.
Surun A, Varlet P, Brugières L, Lacour B, Faure-Conter C, Leblond P, Bertozzi-Salomon AI, Berger C, André N, Sariban E, Raimbault S, Prieur F, Desseigne F, Zattara H, Guimbaud R, Polivka M, Delisle MB, Vasiljevic A, Maurage CA, Figarella-Branger D, Coulet F, Guerrini-Rousseau L, Alapetite C, Dufour C, Colas C, Doz F, Bourdeaut F
Neuro Oncol 2020 Jan 11;22(1):128-138. doi: 10.1093/neuonc/noz154. PMID: 31504825Free PMC Article
A novel APC gene mutation associated with a severe phenotype in a patient with Turcot syndrome.
Fritch Lilla SA, Yi JS, Hall BA, Moertel CL
J Pediatr Hematol Oncol 2014 Apr;36(3):e177-9. doi: 10.1097/MPH.0000000000000009. PMID: 24309598
beta-Catenin status predicts a favorable outcome in childhood medulloblastoma: the United Kingdom Children's Cancer Study Group Brain Tumour Committee.
Ellison DW, Onilude OE, Lindsey JC, Lusher ME, Weston CL, Taylor RE, Pearson AD, Clifford SC; United Kingdom Children's Cancer Study Group Brain Tumour Committee
J Clin Oncol 2005 Nov 1;23(31):7951-7. doi: 10.1200/JCO.2005.01.5479. PMID: 16258095
Cribriform variant papillary thyroid cancer: a characteristic of familial adenomatous polyposis.
Fenton PA, Clarke SE, Owen W, Hibbert J, Hodgson SV
Thyroid 2001 Feb;11(2):193-7. doi: 10.1089/105072501300042965. PMID: 11288991

Clinical prediction guides

Systemic considerations with pigmented fundus lesions and retinal pigment epithelium hamartomas in Turcot syndrome.
Mokhashi N, Cai LZ, Shields CL, Benson WE, Ho AC
Curr Opin Ophthalmol 2021 Nov 1;32(6):567-573. doi: 10.1097/ICU.0000000000000798. PMID: 34456292
Medulloblastoma and familial adenomatous polyposis: Good prognosis and good quality of life in the long-term?
Massimino M, Signoroni S, Boschetti L, Chiapparini L, Erbetta A, Biassoni V, Schiavello E, Ferrari A, Spreafico F, Terenziani M, Chiaravalli S, Puma N, Bergamaschi L, Ricci MT, Cattaneo L, Gattuso G, Buttarelli FR, Gianno F, Miele E, Poggi G, Vitellaro M
Pediatr Blood Cancer 2021 Apr;68(4):e28912. Epub 2021 Jan 18 doi: 10.1002/pbc.28912. PMID: 33459525
An update on the CNS manifestations of brain tumor polyposis syndromes.
Kim B, Tabori U, Hawkins C
Acta Neuropathol 2020 Apr;139(4):703-715. Epub 2020 Jan 22 doi: 10.1007/s00401-020-02124-y. PMID: 31970492
Adenomatous polyposis coli gene involvement in ileal enterochromaffin cell neuroendocrine neoplasms.
Bottarelli L, Azzoni C, Pizzi S, D'Adda T, Silini EM, Bordi C, Rindi G
Hum Pathol 2013 Dec;44(12):2736-42. Epub 2013 Oct 16 doi: 10.1016/j.humpath.2013.06.019. PMID: 24139208
CTNNB1, AXIN1 and APC expression analysis of different medulloblastoma variants.
Silva Rd, Marie SK, Uno M, Matushita H, Wakamatsu A, Rosemberg S, Oba-Shinjo SM
Clinics (Sao Paulo) 2013;68(2):167-72. doi: 10.6061/clinics/2013(02)oa08. PMID: 23525311Free PMC Article

Supplemental Content

Table of contents

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...