PMID- 28620006
OWN - NLM
STAT- MEDLINE
DCOM- 20180321
LR  - 20201113
IS  - 1557-3265 (Electronic)
IS  - 1078-0432 (Print)
IS  - 1078-0432 (Linking)
VI  - 23
IP  - 12
DP  - 2017 Jun 15
TI  - Cancer Surveillance in Gorlin Syndrome and Rhabdoid Tumor Predisposition 
      Syndrome.
PG  - e62-e67
LID - 10.1158/1078-0432.CCR-17-0595 [doi]
AB  - Gorlin syndrome and rhabdoid tumor predisposition syndrome (RTPS) are autosomal 
      dominant syndromes associated with an increased risk of childhood-onset brain 
      tumors. Individuals with Gorlin syndrome can manifest a wide range of phenotypic 
      abnormalities, with about 5% of family members developing medulloblastoma, 
      usually occurring in the first 3 years of life. Gorlin syndrome is associated 
      with germline mutations in components of the Sonic Hedgehog pathway, including 
      Patched1 (PTCH1) and Suppressor of fused (SUFU)SUFU mutation carriers appear to 
      have an especially high risk of early-onset medulloblastoma. Surveillance MRI in 
      the first years of life in SUFU mutation carriers is, therefore, recommended. 
      Given the risk of basal cell carcinomas, regular dermatologic examinations and 
      sun protection are also recommended. Rhabdoid tumors (RT) are tumors initially 
      defined by the descriptive "rhabdoid" term, implying a phenotypic similarity with 
      rhabdomyoblasts at the microscopic level. RTs usually present before the age of 3 
      and can arise within the cranium as atypical teratoid/rhabdoid tumors or 
      extracranially, especially in the kidney, as malignant rhabdoid tumors. However, 
      RTs of both types share germline and somatic mutations in SMARCB1 or, more 
      rarely, SMARCA4, each of which encodes a chromatin remodeling family member. 
      SMARCA4 mutations are particularly associated with small cell carcinoma of the 
      ovary, hypercalcemic type (SCCOHT). The outcome following a diagnosis of any of 
      these tumors is often poor, and the value of surveillance is unknown. 
      International efforts to determine surveillance protocols are underway, and 
      preliminary recommendations are made for carriers of SMARCB1 and SMARCA4 
      mutations. Clin Cancer Res; 23(12); e62-e67. (c)2017 AACRSee all articles in the 
      online-only CCR Pediatric Oncology Series.
CI  - (c)2017 American Association for Cancer Research.
FAU - Foulkes, William D
AU  - Foulkes WD
AD  - Departments of Human Genetics, Medicine and Oncology, McGill University, 
      Montreal, Quebec, Canada.
FAU - Kamihara, Junne
AU  - Kamihara J
AD  - Dana-Farber/Boston Children's Cancer and Blood Disorders Center and Harvard 
      Medical School, Boston, Massachusetts.
FAU - Evans, D Gareth R
AU  - Evans DGR
AD  - Division of Evolution and Genomic Science, Department of Genomic Medicine, MAHSC, 
      University of Manchester, Saint Mary's Hospital, Manchester, England.
FAU - Brugieres, Laurence
AU  - Brugieres L
AD  - Child and Adolescent Cancer Department, Gustave Roussy Institute, Villejuif, 
      France.
FAU - Bourdeaut, Franck
AU  - Bourdeaut F
AD  - Institut Curie, Integrated Cancer Research Site, Paris, France.
FAU - Molenaar, Jan J
AU  - Molenaar JJ
AD  - Princess Maxima Center for Pediatric Oncology, Amsterdam, the Netherlands.
FAU - Walsh, Michael F
AU  - Walsh MF
AD  - Memorial Sloan Kettering Cancer Center, New York, New York.
FAU - Brodeur, Garrett M
AU  - Brodeur GM
AD  - Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
FAU - Diller, Lisa
AU  - Diller L
AD  - Dana-Farber/Boston Children's Cancer and Blood Disorders Center and Harvard 
      Medical School, Boston, Massachusetts. Lisa_Diller@dfci.harvard.edu.
LA  - eng
GR  - K12 HD043245/HD/NICHD NIH HHS/United States
PT  - Journal Article
PT  - Review
PL  - United States
TA  - Clin Cancer Res
JT  - Clinical cancer research : an official journal of the American Association for 
      Cancer Research
JID - 9502500
RN  - 0 (Nuclear Proteins)
RN  - 0 (PTCH1 protein, human)
RN  - 0 (Patched-1 Receptor)
RN  - 0 (Repressor Proteins)
RN  - 0 (SMARCB1 Protein)
RN  - 0 (SMARCB1 protein, human)
RN  - 0 (SUFU protein, human)
RN  - 0 (Transcription Factors)
RN  - EC 3.6.1.- (SMARCA4 protein, human)
RN  - EC 3.6.4.- (DNA Helicases)
RN  - Rhabdoid Tumor Predisposition Syndrome 1
SB  - IM
MH  - Basal Cell Nevus Syndrome/diagnosis/*genetics/pathology
MH  - Brain Neoplasms/diagnosis/*genetics/pathology
MH  - Child, Preschool
MH  - Chromatin Assembly and Disassembly/genetics
MH  - DNA Helicases/*genetics
MH  - Germ-Line Mutation
MH  - Humans
MH  - Infant
MH  - Kidney Neoplasms/diagnosis/*genetics/pathology
MH  - Nuclear Proteins/*genetics
MH  - Patched-1 Receptor/genetics
MH  - Repressor Proteins/genetics
MH  - Rhabdoid Tumor/diagnosis/*genetics/pathology
MH  - SMARCB1 Protein/*genetics
MH  - Transcription Factors/*genetics
PMC - PMC7309678
MID - NIHMS1600359
COIS- Disclosure of Potential Conflicts of Interest No potential conflicts of interest 
      were disclosed.
EDAT- 2017/06/18 06:00
MHDA- 2018/03/22 06:00
PMCR- 2020/06/23
CRDT- 2017/06/17 06:00
PHST- 2017/02/28 00:00 [received]
PHST- 2017/04/17 00:00 [revised]
PHST- 2017/04/28 00:00 [accepted]
PHST- 2017/06/17 06:00 [entrez]
PHST- 2017/06/18 06:00 [pubmed]
PHST- 2018/03/22 06:00 [medline]
PHST- 2020/06/23 00:00 [pmc-release]
AID - 23/12/e62 [pii]
AID - 10.1158/1078-0432.CCR-17-0595 [doi]
PST - ppublish
SO  - Clin Cancer Res. 2017 Jun 15;23(12):e62-e67. doi: 10.1158/1078-0432.CCR-17-0595.