A Different Way to Think About Syndromes of Hereditary Colorectal Cancer.


Journal

Diseases of the colon and rectum
ISSN: 1530-0358
Titre abrégé: Dis Colon Rectum
Pays: United States
ID NLM: 0372764

Informations de publication

Date de publication:
01 10 2023
Historique:
medline: 12 9 2023
pubmed: 10 5 2023
entrez: 10 5 2023
Statut: ppublish

Résumé

Hereditary colorectal cancer is an increasingly complex field in which the commoner syndromes are being augmented by rarer genetic presentations contributing to familial polyposis and colorectal cancer. Coming to grips with the complexity is difficult because of the phenotypic and genotypic overlap between syndromes. This study aimed to describe a new way of thinking about syndromes of hereditary colorectal cancer based on their embryonic tissue of origin. Articles were searched through PubMed and MEDLINE. The terms "hereditary colorectal cancer," "syndromes of hereditary colorectal cancer," and "hereditary polyposis" were used to direct the search. Primarily endoderm-derived syndromes were different from mesoderm-derived syndromes in their genetics, molecular biology, histology, and clinical course. There is considerable phenotypic and genotypic overlap between syndromes, even when considering embryonic tissue of origin. Thinking about hereditary syndromes of colorectal cancer from the perspective of embryonic tissue of origin provides a fresh look at phenotype and genotype that opens new areas of exploration. ANTECEDENTES:El cáncer colorrectal hereditario es un campo cada vez más complejo donde los síndromes más comunes se ven aumentados por presentaciones genéticas más raras que contribuyen a la poliposis familiar y al cáncer colorrectal. Hacer frente a esta complejidad resulta difícil debido a la superposición fenotípica y genotípica entre los síndromes.OBJETIVO:En este artículo, describimos una nueva forma de pensar sobre los síndromes de cáncer colorrectal hereditario en función del origen de su tejido embrionario.FUENTES DE DATOS:Se realizaron búsquedas de artículos en Pubmed y Medline.SELECCIÓN DE ESTUDIOS:Se utilizaron los términos "cáncer colorrectal hereditario", "síndromes de cáncer colorrectal hereditario", "poliposis hereditaria" para dirigir la búsqueda.RESULTADOS:Principalmente los síndromes derivados del endodermo fueron diferentes a los síndromes derivados del mesodermo en su genética, biología molecular, histología y curso clínico.LIMITACIONES:Existe una superposición fenotípica y genotípica considerable entre los síndromes, incluso cuando se considera el tejido de origen embrionario.CONCLUSIÓN:Pensar en los síndromes hereditarios del cáncer colorrectal desde la perspectiva del tejido embrionario de origen proporciona una nueva mirada al fenotipo y al genotipo que abre nuevas áreas de exploración. (Traducción-Dr Osvaldo Gauto ).

Sections du résumé

BACKGROUND
Hereditary colorectal cancer is an increasingly complex field in which the commoner syndromes are being augmented by rarer genetic presentations contributing to familial polyposis and colorectal cancer. Coming to grips with the complexity is difficult because of the phenotypic and genotypic overlap between syndromes.
OBJECTIVE
This study aimed to describe a new way of thinking about syndromes of hereditary colorectal cancer based on their embryonic tissue of origin.
DATA SOURCES
Articles were searched through PubMed and MEDLINE.
STUDY SELECTION
The terms "hereditary colorectal cancer," "syndromes of hereditary colorectal cancer," and "hereditary polyposis" were used to direct the search.
RESULTS
Primarily endoderm-derived syndromes were different from mesoderm-derived syndromes in their genetics, molecular biology, histology, and clinical course.
LIMITATIONS
There is considerable phenotypic and genotypic overlap between syndromes, even when considering embryonic tissue of origin.
CONCLUSIONS
Thinking about hereditary syndromes of colorectal cancer from the perspective of embryonic tissue of origin provides a fresh look at phenotype and genotype that opens new areas of exploration.
UNA FORMA DIFERENTE DE PENSAR SOBRE LOS SNDROMES DEL CNCER COLORRECTAL HEREDITARIO
ANTECEDENTES:El cáncer colorrectal hereditario es un campo cada vez más complejo donde los síndromes más comunes se ven aumentados por presentaciones genéticas más raras que contribuyen a la poliposis familiar y al cáncer colorrectal. Hacer frente a esta complejidad resulta difícil debido a la superposición fenotípica y genotípica entre los síndromes.OBJETIVO:En este artículo, describimos una nueva forma de pensar sobre los síndromes de cáncer colorrectal hereditario en función del origen de su tejido embrionario.FUENTES DE DATOS:Se realizaron búsquedas de artículos en Pubmed y Medline.SELECCIÓN DE ESTUDIOS:Se utilizaron los términos "cáncer colorrectal hereditario", "síndromes de cáncer colorrectal hereditario", "poliposis hereditaria" para dirigir la búsqueda.RESULTADOS:Principalmente los síndromes derivados del endodermo fueron diferentes a los síndromes derivados del mesodermo en su genética, biología molecular, histología y curso clínico.LIMITACIONES:Existe una superposición fenotípica y genotípica considerable entre los síndromes, incluso cuando se considera el tejido de origen embrionario.CONCLUSIÓN:Pensar en los síndromes hereditarios del cáncer colorrectal desde la perspectiva del tejido embrionario de origen proporciona una nueva mirada al fenotipo y al genotipo que abre nuevas áreas de exploración. (Traducción-Dr Osvaldo Gauto ).

Identifiants

pubmed: 37163656
doi: 10.1097/DCR.0000000000002772
pii: 00003453-202310000-00010
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

1339-1346

Informations de copyright

Copyright © The ASCRS 2023.

Références

Dominguez-Valentin M, Sampson JR, Seppala TT, et al. Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings form the prospective Lynch syndrome database. Genet Med. 2020;22:15–25.
Aronson M, Colas C, Shuen A, et al. Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group. J Med Genet. 2022;59:318–327.
Valle L, de Voer RM, Goldberg Y, et al. Update on genetic predisposition to colorectal cancer and polyposis. Mol Aspects Med. 2019;69:10–26.
Valle L, Vilar E, Tavtigian SV, Stoffel EM. Genetic predisposition to colorectal cancer: syndromes, genes, classification of genetic variants and implications for precision medicine. J Pathol. 2019;247:574–588.
Wimmer K, Kratz CP, Vasen HF, et al.; EU-Consortium Care for CMMRD (C4CMMRD). Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium “care for CMMRD” (C4CMMRD). J Med Genet. 2014;51:355–365.
Hemmings C. Mesenchymal tumours of the gut. Pathology (Phila). 2015;47:S7s7.
Abbass MA, Leach B, Church JM. The second allele: a key to understanding the timing of sporadic and hereditary colorectal tumorigenesis. Genes (Basel). 2021;12:1515–1521.
Tomasetti C, Vogelstein B. Cancer etiology. Variation in cancer risk among tissues can be explained by the number of stem cell divisions. Science. 2015;347:78–81.
Luzzatto L, Pandolfi PP. Causality and chance in the development of cancer. N Engl J Med. 2015;373:84–88.
Batsakis JG. Nomenclature of developmental tumors. Ann Otol Rhinol Laryngol. 1984;93:98–99.
Oncel M, Remzi FH, Church JM, Goldblum JR, Zutshi M, Fazio VW. Course and follow-up of solitary Peutz-Jeghers polyps: a case series. Int J Colorectal Dis. 2003;18:33–35.
Nugent KP, Talbot IC, Hodgson SV, Phillips RK. Solitary juvenile polyps: not a marker for subsequent malignancy. Gastroenterology. 1993;105:698–700.
Katajistol P, Vaahtomeril K, Ekman N, et al. LKB1 signaling in mesenchymal cells is required for the suppression of gastrointestinal polyposis. Nat Genet. 2008;40:455–459.
Kinzler KW, Vogelstein B. Landscaping the cancer terrain. Science. 1998;280:1036–1037.
Sanchez JA, Krumroy L, Plummer S, et al. Genetic and epigenetic classifications define clinical phenotypes and determine patient outcomes in colorectal cancer. Br J Surg. 2009;96:1196–1204.
Phipps AI, Limburg PJ, Baron JA, et al. Association between molecular subtypes of colorectal cancer and patient survival. Gastroenterology. 2015;148:77–87.e2.
Ordóñez JL, Osuna D, García-Domínguez DJ, et al. The clinical relevance of molecular genetics in soft tissue sarcomas. Adv Anat Pathol. 2010;17:162–181.
Engelman JA, Luo J, Cantley LC. The evolution of phosphatidylinositol 3-kinases as regulators of growth and metabolism. Nat Rev Genet. 2006;7:606–619.
Mester J, Eng C. Cowden syndrome: recognizing and managing a not-so-rare hereditary cancer syndrome. J Surg Oncol. 2015;111:125–130.
Hitchins MP. Finding the needle in a haystack: identification of cases of Lynch syndrome with MLH1 epimutation. Fam Cancer. 2016;15:413–422.
Ripa R, Bisgaard ML, Bülow S, Nielsen FC. De novo mutations in familial adenomatous polyposis (FAP) [published correction appears in EurJ Hum Genet . 2002;10:887–888]. Eur J Hum Genet. 2002;10:631–637.
McGarrity TJ, Amos CI, Baker MJ. Peutz-Jeghers syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews®. [Internet]. Seattle, WA: University of Washington; 2001:1993–2020. [Updated July 14, 2016].
Calva-Cerqueira D, Chinnathambi S, Pechman B, Bair J, Larsen-Haidle J, Howe JR. The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis. Clin Genet. 2009;75:79–85.
Mester J, Eng C. Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome. Genet Med. 2012;14:819–822.
Shaco-Levy R, Jasperson KW, Martin K, et al. Morphologic characterization of hamartomatous gastrointestinal polyps in Cowden syndrome, Peutz-Jeghers syndrome, and juvenile polyposis syndrome. Hum Pathol. 2016;49:39–48.
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.
Ngeow J, Heald B, Rybicki LA, et al. Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps. Gastroenterology. 2013;144:1402–9, 1409.e1.
Pinto D, Pinto C, Guerra J, et al. Contribution of MLH1 constitutional methylation for Lynch syndrome diagnosis in patients with tumor MLH1 downregulation. Cancer Med. 2018;7:433–444.
Kidambi TD, Blanco A, Van Ziffle J, Terdiman JP. Constitutional MLH1 methylation presenting with colonic polyposis syndrome and not Lynch syndrome. Fam Cancer. 2016;15:275–280.
Nieminen TT, O’Donohue MF, Wu Y, et al. Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiency. Gastroenterology. 2014;147:595–598.e5.
Otero L, Lacunza E, Vasquez V, Arbelaez V, Cardier F, González F. Variations in AXIN2 predict risk and prognosis of colorectal cancer. BDJ Open. 2019;5:13.
Guda K, Moinova H, He J, et al. Inactivating germ-line and somatic mutations in polypeptide N-acetylgalactosaminyltransferase 12 in human colon cancers. Proc Natl Acad Sci USA. 2009;106:12921–12925.
Aytac E, Sulu B, Heald B, et al. Genotype-defined cancer risk in juvenile polyposis syndrome. Br J Surg. 2015;102:114–118.

Auteurs

Mohammad Ali Abbass (MA)

Department of Colorectal Surgery, Northwestern University, Chicago, Illinois.

Thomas Plesec (T)

Department of Pathology, Cleveland Clinic Foundation, Cleveland, Ohio.

James M Church (JM)

Division of Colorectal Surgery, Columbia University Medical Center, New York, New York.

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