دورية أكاديمية
Extraskeletal chondroma of the toe in a child with DICER1 tumor predisposition syndrome: support for a dominant negative mechanism.
| العنوان: | Extraskeletal chondroma of the toe in a child with DICER1 tumor predisposition syndrome: support for a dominant negative mechanism. |
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| المؤلفون: | Pelletier D; Department of Human Genetics, Medicine, McGill University, Montreal, QC, Canada.; Cancer Axis, Lady Davis Institute, Jewish General Hospital, Montreal, QC, Canada.; Faculty of Medicine, Université de Montréal, Montreal, QC, Canada., Sabbaghian N; Department of Human Genetics, Medicine, McGill University, Montreal, QC, Canada.; Cancer Axis, Lady Davis Institute, Jewish General Hospital, Montreal, QC, Canada., Chong AL; Department of Human Genetics, Medicine, McGill University, Montreal, QC, Canada.; Cancer Axis, Lady Davis Institute, Jewish General Hospital, Montreal, QC, Canada., Priest JR; Minneapolis, USA., Elsheikh Ahmed Y; Sunnybrook Health Sciences Centre, Toronto, ON, Canada.; Royal College of Surgeons in Ireland, Medical University of Bahrain, Busaiteen, Bahrain.; King Hamad University Hospital, Al Sayh, Bahrain., Fox GP; Royal College of Surgeons in Ireland, Medical University of Bahrain, Busaiteen, Bahrain.; King Hamad University Hospital, Al Sayh, Bahrain., Fabian MR; Cancer Axis, Lady Davis Institute, Jewish General Hospital, Montreal, QC, Canada.; Gerald Bronfman Department of Oncology, McGill University, Montreal, QC, Canada., Foulkes WD; Department of Human Genetics, Medicine, McGill University, Montreal, QC, Canada. william.foulkes@mcgill.ca.; Cancer Axis, Lady Davis Institute, Jewish General Hospital, Montreal, QC, Canada. william.foulkes@mcgill.ca.; Gerald Bronfman Department of Oncology, McGill University, Montreal, QC, Canada. william.foulkes@mcgill.ca.; Cancer Research Program, Research Institute of the McGill University Health Center, Montreal, QC, Canada. william.foulkes@mcgill.ca. |
| المصدر: | Virchows Archiv : an international journal of pathology [Virchows Arch] 2024 Jun; Vol. 484 (6), pp. 1023-1027. Date of Electronic Publication: 2024 Feb 14. |
| نوع المنشور: | Case Reports; Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Springer International Country of Publication: Germany NLM ID: 9423843 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-2307 (Electronic) Linking ISSN: 09456317 NLM ISO Abbreviation: Virchows Arch Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Berlin ; New York : Springer International, c1994- |
| مواضيع طبية MeSH: | Ribonuclease III*/genetics , DEAD-box RNA Helicases*/genetics , Genetic Predisposition to Disease* , Chondroma*/genetics , Chondroma*/pathology, Humans ; Child ; Male ; Germ-Line Mutation ; Female ; Toes/pathology |
| مستخلص: | DICER1 tumor predisposition syndrome is a pleiotropic disorder that gives rise to various mainly pediatric-onset lesions. We report an extraskeletal chondroma (EC) of the great toe occurring in a child who, unusually, carries a germline "hotspot" missense DICER1 variant rather than the more usual loss-of-function (LOF) variant. No heterozygous LOF allele was identified in the EC. We demonstrate this variant impairs 5p cleavage of precursor-miRNA (pre-miRNA) and competes with wild-type (WT) DICER1 protein for pre-miRNA processing. These results suggest a mechanism through which a germline RNase IIIb variant could impair pre-miRNA processing without complete LOF of the WT DICER1 allele. (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.) |
| References: | Selvarajah S et al (2010) Chapter 13 - Genetic aspects of bone tumors. In: Heymann D (ed) Bone Cancer. Academic Press, San Diego, pp 161–170. (PMID: 10.1016/B978-0-12-374895-9.00013-X) Zlatkin MB et al (1985) Soft-tissue chondromas. AJR Am J Roentgenol 144(6):1263–1267. (PMID: 10.2214/ajr.144.6.1263) Humphreys S et al (1986) Soft tissue chondroma–a study of 15 tumours. Histopathology 10(2):147–159. (PMID: 10.1111/j.1365-2559.1986.tb02470.x) John LC-Y et al (2017) Soft tissue chondroma—result of surgery in a local hospital and review of the literature. J Orthop Trauma Rehabil 22(1):1–5. Chung EB, Enzinger FM (1978) Chondroma of soft parts. Cancer 41(4):1414–1424. (PMID: 10.1002/1097-0142(197804)41:4<1414::AID-CNCR2820410429>3.0.CO;2-O) de Kock L, Wu MK, Foulkes WD (2019) Ten years of DICER1 mutations: Provenance, distribution, and associated phenotypes. Hum Mutat 40(11):1939–1953. (PMID: 10.1002/humu.23877) Schultz KA et al (2014) DICER1-pleuropulmonary blastoma familial tumor predisposition syndrome: a unique constellation of neoplastic conditions. Pathol Case Rev 19(2):90–100. (PMID: 10.1097/PCR.0000000000000027) de Kock L et al (2014) Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations. Acta Neuropathol 128(1):111–122. (PMID: 10.1007/s00401-014-1285-z) Ellis JA, Ong B (2017) The MassARRAY((R)) System for Targeted SNP Genotyping. Methods Mol Biol 1492:77–94. (PMID: 10.1007/978-1-4939-6442-0_5) Pelletier D et al (2023) DICER1 platform domain missense variants inhibit miRNA biogenesis and lead to tumor susceptibility. NAR Cancer 5(3):zcad030. Schwarz JM et al (2010) MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods 7(8):575–576. (PMID: 10.1038/nmeth0810-575) Lefter M et al (2021) Mutalyzer 2: next generation HGVS nomenclature checker. Bioinformatics 37(18):2811–2817. (PMID: 10.1093/bioinformatics/btab051) Dahlin DC, Salvador AH (1974) Cartilaginous tumors of the soft tissues of the hands and feet. Mayo Clin Proc 49(10):721–726. Gonzalez IA et al (2022) DICER1 tumor predisposition syndrome: an evolving story initiated with the pleuropulmonary blastoma. Mod Pathol 35(1):4–22. (PMID: 10.1038/s41379-021-00905-8) Brenneman M et al (2015) Temporal order of RNase IIIb and loss-of-function mutations during development determines phenotype in pleuropulmonary blastoma / DICER1 syndrome: a unique variant of the two-hit tumor suppression model. F1000Res 4:214. de Kock L et al (2016) High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome. J Med Genet 53(1):43–52. (PMID: 10.1136/jmedgenet-2015-103428) |
| معلومات مُعتمدة: | FDN-148390 Canada CAPMC CIHR; PJT-156356 Canada CAPMC CIHR; CGS-M Canada CAPMC CIHR; FDN-148390 Canada CAPMC CIHR; PJT-156356 Canada CAPMC CIHR; CGS-M Canada CAPMC CIHR; RGPIN-2015-03712 Natural Science and Engineering Research Council of Canada; Chercheur-Boursier Senior Fonds de Recherche du Québec - Santé |
| فهرسة مساهمة: | Keywords: DICER1 syndrome; Extraskeletal chondroma; Pediatric oncology; Rare tumors; miRNA biogenesis |
| المشرفين على المادة: | EC 3.1.26.3 (Ribonuclease III) EC 3.6.4.13 (DEAD-box RNA Helicases) EC 3.1.26.3 (DICER1 protein, human) |
| تواريخ الأحداث: | Date Created: 20240214 Date Completed: 20240619 Latest Revision: 20240709 |
| رمز التحديث: | 20240709 |
| DOI: | 10.1007/s00428-024-03759-y |
| PMID: | 38355738 |
| قاعدة البيانات: | MEDLINE |
Find this article in full text from Springer Verlag. 
Full Text Finder | تدمد: | 1432-2307 |
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| DOI: | 10.1007/s00428-024-03759-y |