Constitutional POLE variants causing a phenotype reminiscent of constitutional mismatch repair deficiency.

التفاصيل البيبلوغرافية
العنوان:	Constitutional POLE variants causing a phenotype reminiscent of constitutional mismatch repair deficiency.
المؤلفون:	Sehested A; Department of Pediatrics and Adolescent Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Meade J; Division of Pediatric Hematology/Oncology, Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA., Scheie D; Department of Pathology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Østrup O; Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Bertelsen B; Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Misiakou MA; Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Sarosiek T; Department of Oncology, Luxmed Onkologia, Warsaw, Poland., Kessler E; Division of Pediatric Hematology/Oncology, Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA., Melchior LC; Department of Pathology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Munch-Petersen HF; Department of Pathology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Pai RK; Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, USA., Schmuth M; Department of Dermatology, Venereology and Allergy, Medical University of Innsbruck, Innsbruck, Austria., Gottschling H; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Zschocke J; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Gallon R; Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Wimmer K; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
المصدر:	Human mutation [Hum Mutat] 2022 Jan; Vol. 43 (1), pp. 85-96. Date of Electronic Publication: 2021 Dec 02.
نوع المنشور:	Journal Article; Research Support, Non-U.S. Gov't
اللغة:	English
بيانات الدورية:	Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE
أسماء مطبوعة:	Original Publication: New York : Wiley-Liss, c1992-
مواضيع طبية MeSH:	Brain Neoplasms/genetics , Colorectal Neoplasms/genetics , Neoplastic Syndromes, Hereditary/diagnosis , Neoplastic Syndromes, Hereditary/genetics, Adult ; DNA Mismatch Repair/genetics ; Humans ; Mutation ; Phenotype
مستخلص:	Heterozygous POLE or POLD1 germline pathogenic variants (PVs) cause polymerase proofreading associated polyposis (PPAP), a constitutional polymerase proofreading deficiency that typically presents with colorectal adenomas and carcinomas in adulthood. Constitutional mismatch-repair deficiency (CMMRD), caused by germline bi-allelic PVs affecting one of four MMR genes, results in a high propensity for the hematological, brain, intestinal tract, and other malignancies in childhood. Nonmalignant clinical features, such as skin pigmentation alterations, are found in nearly all CMMRD patients and are important diagnostic markers. Here, we excluded CMMRD in three cancer patients with highly suspect clinical phenotypes but identified in each a constitutional heterozygous POLE PV. These, and two additional POLE PVs identified in published CMMRD-like patients, have not previously been reported as germline PVs despite all being well-known somatic mutations in hyper-mutated tumors. Together, these five cases show that specific POLE PVs may have a stronger "mutator" effect than known PPAP-associated POLE PVs and may cause a CMMRD-like phenotype distinct from PPAP. The common underlying mechanism, that is, a constitutional replication error repair defect, and a similar tumor spectrum provide a good rationale for monitoring these patients with a severe constitutional polymerase proofreading deficiency according to protocols proposed for CMMRD. (© 2021 The Authors. Human Mutation published by Wiley Periodicals LLC.)
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معلومات مُعتمدة:	24991 United Kingdom CRUK_ Cancer Research UK; KLI 734 Austria FWF_ Austrian Science Fund FWF; C569/A24991 United Kingdom CRUK_ Cancer Research UK
فهرسة مساهمة:	Keywords: POLE; café au lait macules; childhood cancer; constitutional mismatch repair deficiency; driver mutation; medulloblastoma; mismatch repair; polymerase proofreading; polymerase proofreading associated polyposis; tumor mutational burden
SCR Disease Name:	Turcot syndrome
تواريخ الأحداث:	Date Created: 20211124 Date Completed: 20220331 Latest Revision: 20240210
رمز التحديث:	20240210
DOI:	10.1002/humu.24299
PMID:	34816535
قاعدة البيانات:	MEDLINE

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تدمد:	1098-1004
DOI:	10.1002/humu.24299