Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome.
Journal
European journal of human genetics : EJHG
ISSN: 1476-5438
Titre abrégé: Eur J Hum Genet
Pays: England
ID NLM: 9302235
Informations de publication
Date de publication:
10 2020
10 2020
Historique:
received:
23
02
2020
accepted:
28
04
2020
revised:
16
04
2020
pubmed:
14
6
2020
medline:
9
6
2021
entrez:
14
6
2020
Statut:
ppublish
Résumé
PTEN hamartoma tumour syndrome is a diverse multi-system disorder predisposing to the development of hamartomatous growths, increasing risk of breast, thyroid, renal cancer, and possibly increasing risk of endometrial cancer, colorectal cancer and melanoma. There is no international consensus on cancer surveillance in PHTS and all current guidelines are based on expert opinion. A comprehensive literature review was undertaken and guidelines were developed by clinicians with expertise from clinical genetics, gynaecology, endocrinology, dermatology, radiology, gastroenterology and general surgery, together with affected individuals and their representatives. Recommendations were put forward for surveillance for breast, thyroid and renal cancers. Limited recommendations were developed for other sites including endometrial, colon and skin. The proposed cancer surveillance recommendations for PHTS require a coordinated multidisciplinary approach and significant patient commitment. The evidence base for cancer surveillance in this guideline are limited, emphasising the need for prospective evaluation of the effectiveness of surveillance in the PHTS population.
Identifiants
pubmed: 32533092
doi: 10.1038/s41431-020-0651-7
pii: 10.1038/s41431-020-0651-7
pmc: PMC7608293
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1387-1393Subventions
Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : Cancer Research UK
ID : 27223
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 210752/Z/18/Z
Pays : United Kingdom
Organisme : Cancer Research UK
ID : C61296/A27223
Pays : United Kingdom
Investigateurs
Tanya Bisseling
(T)
Virginie Bubien
(V)
Frederic Caux
(F)
Nathalie Chabbert-Buffet
(N)
Chrystelle Colas
(C)
Sophie Da Mota Gomes
(S)
Martin Gotthardt
(M)
Nicoline Hoogerbrugge
(N)
Marleen Kets
(M)
Katherine L Lachlan
(KL)
Thera P Links
(TP)
Michel Longy
(M)
Ritse Mann
(R)
Sjaak Pouwels
(S)
Leo Schultze Kool
(LS)
Robert K Semple
(RK)
Ian Stock
(I)
Marc Tischkowitz
(M)
Janet Vos
(J)
Nicoline Hoogerbrugge
(N)
Marjolijn Ligtenberg
(M)
Rianne Oostenbrink
(R)
Rolf Sijmons
(R)
Gareth Evans
(G)
Emma Woodward
(E)
Marc Tischkowitz
(M)
Eamonn Maher
(E)
Rosalie E Ferner
(RE)
Stefan Aretz
(S)
Isabel Spier
(I)
Verena Steinke-Lange
(V)
Elke Holinski-Feder
(E)
Evelin Schröck
(E)
Thierry Frebourg
(T)
Claude Houdayer
(C)
Chrystelle Colas
(C)
Pierre Wolkenstein
(P)
Vincent Bours
(V)
Eric Legius
(E)
Bruce Poppe
(B)
Kathleen Claes
(K)
Robin de Putter
(R)
Ignacio Blanco Guillermo
(IB)
Gabriel Capella
(G)
Joan Brunet Vidal
(JB)
Conxi Lázaro
(C)
Judith Balmaña
(J)
Hector Salvador Hernandez
(HS)
Carla Oliveira
(C)
Manuel Teixeira
(M)
Svetlana Bajalica-Lagercrantz
(S)
Emma Tham
(E)
Jan Lubinski
(J)
Karolina Ertmanska
(K)
Bela Melegh
(B)
Mateja Krajc
(M)
Ana Blatnik
(A)
Sirkku Peltonen
(S)
Marja Hietala
(M)
Références
Pilarski R. PTEN hamartoma tumor syndrome: a clinical overview. Cancers (Basel). 2019;11:844.
doi: 10.3390/cancers11060844
Riegert-Johnson DL, Gleeson FC, Roberts M, Tholen K, Youngborg L, Bullock M, et al. Cancer and Lhermitte-Duclos disease are common in Cowden syndrome patients. Hered Cancer Clin Pract. 2010;8:6.
Nieuwenhuis MH, Kets CM, Murphy-Ryan M, Yntema HG, Evans DG, Colas C, et al. Cancer risk and genotype-phenotype correlations in PTEN hamartoma tumor syndrome. Fam Cancer. 2014;13:57–63.
doi: 10.1007/s10689-013-9674-3
Starink TM, van der Veen JP, Arwert F, de Waal LP, de Lange GG, Gille JJ, et al. The Cowden syndrome: a clinical and genetic study in 21 patients. Clin Genet. 1986;29:222–233.
doi: 10.1111/j.1399-0004.1986.tb00816.x
Bubien V, Bonnet F, Brouste V, Hoppe S, Barouk-Simonet E, David A, et al. High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. J Med Genet. 2013;50:255–263.
doi: 10.1136/jmedgenet-2012-101339
Tan MH, Mester JL, Ngeow J, Rybicki LA, Orloff MS, Eng C. Lifetime cancer risks in individuals with germline PTEN mutations. Clin Cancer Res. 2012;18:400–407.
doi: 10.1158/1078-0432.CCR-11-2283
Mester JL, Ghosh R, Pesaran T, Huether R, Karam R, Hruska KS, et al. Gene-specific criteria for PTEN variant curation: recommendations from the ClinGen PTEN Expert Panel. Hum Mutat. 2018;39:1581–1592.
doi: 10.1002/humu.23636
Plamper M, Schreiner F, Gohlke B, Kionke J, Korsch E, Kirkpatrick J, et al. Thyroid disease in children and adolescents with PTEN hamartoma tumor syndrome (PHTS). Eur J Pediatr. 2018;177:429–435.
doi: 10.1007/s00431-017-3067-9
Smith JR, Marqusee E, Webb S, Nose V, Fishman SJ, Shamberger RC, et al. Thyroid nodules and cancer in children with PTEN hamartoma tumor syndrome. J Clin Endocrinol Metab. 2011;96:34–37.
doi: 10.1210/jc.2010-1315
Mester JL, Zhou M, Prescott N, Eng C. Papillary renal cell carcinoma is associated with PTEN hamartoma tumor syndrome. Urology. 2012;79:1187.e1181–1187.
doi: 10.1016/j.urology.2011.12.025
Fiori E, De Cesare A, Crocetti D, Ferraro D, Barmann C, VS A, et al. Good results of surgery for renal cell carcinoma depend on early diagnosis. The need for an extensive screening program. Ann Ital Chir. 2016;87:41–44.
pubmed: 27025530
Chiarello MA, Mali RD, Kang SK. Diagnostic accuracy of MRI for detection of papillary renal cell carcinoma: a systematic review and meta-analysis. AJR Am J Roentgenol. 2018;211:812–821.
doi: 10.2214/AJR.17.19462
Vogel C, Ziegelmuller B, Ljungberg B, Bensalah K, Bex A, Canfield S, et al. Imaging in suspected renal-cell carcinoma: systematic review. Clin Genitourin Cancer. 2019;17:e345–e355.
doi: 10.1016/j.clgc.2018.07.024
Forde C, Lim DHK, Alwan Y, Burghel G, Butland L, Cleaver R, et al. Hereditary leiomyomatosis and renal cell cancer: clinical, molecular, and screening features in a cohort of 185 affected individuals. Eur Urol Oncol. 2019;S2588–9311:30161-0. https://doi.org/10.1016/j.euo.2019.11.002 .
Heald B, Mester J, Rybicki L, Orloff MS, Burke CA, Eng C. Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers. Gastroenterology. 2010;139:1927–1933.
doi: 10.1053/j.gastro.2010.06.061
Stanich PP, Owens VL, Sweetser S, Khambatta S, Smyrk TC, Richardson RL, et al. Colonic polyposis and neoplasia in Cowden syndrome. Mayo Clin Proc. 2011;86:489–492.
doi: 10.4065/mcp.2010.0816
Macken WL, Tischkowitz M, Lachlan KL. PTEN Hamartoma tumor syndrome in childhood: a review of the clinical literature. Am J Med Genet C Semin Med Genet. 2019;181:591–610.
doi: 10.1002/ajmg.c.31743