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Naslov:Medullary thyroid carcinoma and associated endocrinopathies in Slovenia from 1995 to 2021
Avtorji:ID Milićević, Sara (Avtor)
ID Krajc, Mateja (Avtor)
ID Blatnik, Ana (Avtor)
ID Perić, Barbara (Avtor)
Datoteke:URL URL - Izvorni URL, za dostop obiščite https://www.mdpi.com/2075-1729/12/7/1091/htm
 
.pdf PDF - Predstavitvena datoteka, prenos (248,03 KB)
MD5: 4946D0D2CB52C6752679497E9AB35934
 
Jezik:Angleški jezik
Tipologija:1.01 - Izvirni znanstveni članek
Organizacija:Logo OI - Onkološki inštitut Ljubljana
Povzetek:Background: Medullary thyroid cancer (MTC) is a rare endocrine tumour that is sporadic in 75% of cases and occurs as a part of inherited cancer syndromes in approximately 25% of cases. The aim of this study was to determine the frequency and type of RET pathogenic variants (PVs) in the Slovenian MTC patient population diagnosed between 1995 and 2021 and to elucidate the full range of associated endocrinopathies. Methods: A retrospective analysis of medical records of 266 MTC patients and their relatives seen in a tertiary centre between 1995 and 2021 was performed. Sequence analysis of exons 10, 11, 13, 14, 15, and 16 of the RET gene was analysed in most patients using Sanger sequencing. From 2017, the entire sequence of RET gene was analysed in most patients using targeted next-generation sequencing. Results: Germline PVs in the RET proto-oncogene were identified in 21.6% probands from 21 different MTC families. Of their tested relatives, 65% (67/103) were RET-positive and 35% (36/103) were RET-negative. PVs were detected in codon 618 and codon 634 in 28.6%, and in codon 790 in 23.8%. The RET-positive group consisted of 52 MTC patients, 13 patients with C cell hyperplasia and 2 individuals with neither. Associated endocrinopathies were diagnosed in 8/21 families: primary hyperparathyroidism (PHPT) in six families and pheochromocytoma (PHEO) in five families. In 62% of RET-positive families (13/21), no associated endocrinopathies were diagnosed. PHEO was most commonly associated with C634R (6/13) and PHPT with C634R (4/7). Hirschsprung’s disease appeared in one patient with RET PV in codon 618. Based on data from the Cancer Registry of Republic of Slovenia, only individual cases of common cancers with well understood environmental risk factors were discovered; lung cancer in 2/21 of families, papillary thyroid cancer in 3/21 of families, cutaneous melanoma in 2/21 of families, cervical cancer in 1/21 families, and lymphoma in 1/21 families. Conclusions: Analysis of prospectively collected MTC cases during a 27-year period revealed that 21.6% of Slovenian patients are RET PV carriers. Sixty-two percent of families had none of the associated endocrinopathies, confirming the thesis that FMTC is the most common presentation. This could suggest using risk-stratified management approaches when screening for PHEO and PHPT in RET PV carriers. However, more studies are needed to evaluate potential genetic risk modifiers as well as safety, improved quality of life, and medical cost reduction in the case of a patient-oriented approach.
Ključne besede:medullary thyroid carcinoma, multiple endocrine neoplasia, primary hyperparathyroidism
Status publikacije:Objavljeno
Verzija publikacije:Objavljena publikacija
Datum objave:21.07.2022
Založnik:MDPI
Leto izida:2022
Št. strani:str. 1091-1-1091-8
Številčenje:Vol. 12, no. 7
PID:20.500.12556/DiRROS-15585 Novo okno
UDK:616-07
ISSN pri članku:2075-1729
DOI:10.3390/life12071091 Novo okno
COBISS.SI-ID:116049923 Novo okno
Avtorske pravice:by Authors
Opomba:Nasl. z nasl. zaslona; Opis vira z dne 21. 7. 2022;
Datum objave v DiRROS:23.09.2022
Število ogledov:481
Število prenosov:230
Metapodatki:XML RDF-CHPDL DC-XML DC-RDF
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Gradivo je del revije

Naslov:Life
Skrajšan naslov:Life
Založnik:MDPI
ISSN:2075-1729
COBISS.SI-ID:519982617 Novo okno

Gradivo je financirano iz projekta

Financer:ARRS - Agencija za raziskovalno dejavnost Republike Slovenije
Številka projekta:P3-0352-2018
Naslov:Družine s povišano ali visoko ogroženostjo za raka: svetovanje, odkrivanje mutacij in preprečevanje raka

Licence

Licenca:CC BY 4.0, Creative Commons Priznanje avtorstva 4.0 Mednarodna
Povezava:http://creativecommons.org/licenses/by/4.0/deed.sl
Opis:To je standardna licenca Creative Commons, ki daje uporabnikom največ možnosti za nadaljnjo uporabo dela, pri čemer morajo navesti avtorja.
Začetek licenciranja:23.09.2022

Sekundarni jezik

Jezik:Slovenski jezik
Ključne besede:medularni rak ščitnice, multipla endokrina neoplazija, primarni hipertirodizem


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