open access

Vol 66, No 2 (2015)
Original papers
Published online: 2015-05-01
Submitted: 2015-01-13
Accepted: 2015-02-17
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The prevalence of somatic RAS mutations in medullary thyroid cancer — a Polish population study

Malgorzata Oczko-Wojciechowska, Aleksandra Pfeifer, Dagmara Rusinek, Agnieszka Pawlaczek, Jadwiga Zebracka-Gala, Malgorzata Kowalska, Monika Kowal, Michal Swierniak, Jolanta Krajewska, Tomasz Gawlik, Ewa Chmielik, Agnieszka Czarniecka, Sylwia Szpak-Ulczok, Barbara Jarząb
DOI: 10.5603/EP.2015.0018
·
Endokrynologia Polska 2015;66(2):121-125.

open access

Vol 66, No 2 (2015)
Original papers
Published online: 2015-05-01
Submitted: 2015-01-13
Accepted: 2015-02-17

Abstract

Introduction: Somatic RET mutations are detectable in two-thirds of sporadic cases of medullary thyroid cancer (MTC). Recent studies reported a high proportion of RAS somatic mutations in RET negative tumours, which may indicate RAS mutation as a possible alternative genetic event in sporadic MTC tumorigenesis. Thus, the aim of the study was to evaluate the frequency of somatic RAS mutations in sporadic medullary thyroid cancer in the Polish population and to relate the obtained data to the presence of somatic RET mutations.
Material and methods: Somatic mutations (RET, RAS genes) were evaluated in 78 snap-frozen MTC samples (57 sporadic and 21 hereditary) by direct sequencing. Next, three randomly selected RET-negative MTC samples were analysed by the next generation sequencing.
Results: RAS mutation was detected in 26.5% of 49 sporadic MTC tumours. None of all the analysed samples showed N-RAS mutation. When only RET-negative samples were considered, the prevalence of RAS mutation was 68.7%, compared to 6% observed in RET-positive samples. Most of these mutations were located in H-RAS codon 61 (72%). None of 21 hereditary MTC samples showed any RAS mutations.
Conclusions: RAS mutations constitute a frequent molecular event in RET-negative sporadic medullary thyroid carcinoma in Polish patients. However, their role in MTC tumorigenesis remains unclear. (Endokrynol Pol 2015; 66 (2): 121–125)

Abstract

Introduction: Somatic RET mutations are detectable in two-thirds of sporadic cases of medullary thyroid cancer (MTC). Recent studies reported a high proportion of RAS somatic mutations in RET negative tumours, which may indicate RAS mutation as a possible alternative genetic event in sporadic MTC tumorigenesis. Thus, the aim of the study was to evaluate the frequency of somatic RAS mutations in sporadic medullary thyroid cancer in the Polish population and to relate the obtained data to the presence of somatic RET mutations.
Material and methods: Somatic mutations (RET, RAS genes) were evaluated in 78 snap-frozen MTC samples (57 sporadic and 21 hereditary) by direct sequencing. Next, three randomly selected RET-negative MTC samples were analysed by the next generation sequencing.
Results: RAS mutation was detected in 26.5% of 49 sporadic MTC tumours. None of all the analysed samples showed N-RAS mutation. When only RET-negative samples were considered, the prevalence of RAS mutation was 68.7%, compared to 6% observed in RET-positive samples. Most of these mutations were located in H-RAS codon 61 (72%). None of 21 hereditary MTC samples showed any RAS mutations.
Conclusions: RAS mutations constitute a frequent molecular event in RET-negative sporadic medullary thyroid carcinoma in Polish patients. However, their role in MTC tumorigenesis remains unclear. (Endokrynol Pol 2015; 66 (2): 121–125)

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Keywords

medullary thyroid cancer; RET; RAS; driver mutation

About this article
Title

The prevalence of somatic RAS mutations in medullary thyroid cancer — a Polish population study

Journal

Endokrynologia Polska

Issue

Vol 66, No 2 (2015)

Pages

121-125

Published online

2015-05-01

DOI

10.5603/EP.2015.0018

Bibliographic record

Endokrynologia Polska 2015;66(2):121-125.

Keywords

medullary thyroid cancer
RET
RAS
driver mutation

Authors

Malgorzata Oczko-Wojciechowska
Aleksandra Pfeifer
Dagmara Rusinek
Agnieszka Pawlaczek
Jadwiga Zebracka-Gala
Malgorzata Kowalska
Monika Kowal
Michal Swierniak
Jolanta Krajewska
Tomasz Gawlik
Ewa Chmielik
Agnieszka Czarniecka
Sylwia Szpak-Ulczok
Barbara Jarząb

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