Molecular profiling of sporadic medullary thyroid
carcinom as – a next-generation sequencing-based study

Serdar Altinay; Altan Kara; Mustafa Gülbağcı; Ahmet Cem Dural; Şaban Tekin; Tuğba Köprülü; Nisa Erdoğan; Meral Mert; Ülkan Çelik; Mustafa Turan

doi:10.5114/pjp.2025.156557

eISSN: 2084-9869
ISSN: 1233-9687

Polish Journal of Pathology

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abstract:

Original paper

Molecular profiling of sporadic medullary thyroid carcinom as – a next-generation sequencing-based study

Serdar Altinay

^{1, 2}

,

Altan Kara

³

,

Mustafa Emre Gülbağcı

²

,

Ahmet Cem Dural

⁴

,

Şaban Tekin

^{5, 6}

,

Tuğba Kul Köprülü

^{6, 7}

,

Nisa Begüm Erdoğan

⁸

,

Meral Mert

⁹

,

Ülkan Çelik

¹⁰

,

Mustafa Turan

^{11, 12}

Department of Pathology, Hamidiye Faculty of Medicine, University of Health Sciences, Istanbul, Turkey
Department of Pathology, Bakırköy Dr. Sadi Konuk Training and Research Hospital, University of Health Sciences, Istanbul, Turkey
Tubitak Mam Institute of Genetic Engineering and Biotechnology, Istanbul, Turkey
Departmenf of Endocrin Surgery, Medical Faculty, Istinye University, Istanbul, Turkey
Department of Basic Medical Sciences, Hamidiye Faculty of Medicine, University of Health Sciences, Istanbul, Turkey
Next Generation Sequencing Laboratory, Experimental Medicine Application and Research Centre, University of Health Sciences, Istanbul, Turkey
Department of Medical Services and Techniques, Medical Laboratory Techniques, Hamidiye Vocational School of Health Services, University Health Sciences, Istanbul, Turkey
Cerrahpaşa Medical Faculty, Istanbul University, Istanbul, Turkey
Department of Endocrinology, Bakırköy Dr. Sadi Konuk Training and Research Hospital, University of Health Sciences, Istanbul, Turkey
Department of Basic Medical Sciences, Department of Medical Biology, Hamidiye Faculty of Medicine, University of Health Sciences, Istanbul, Turkey
Department of General Surgery, Çam and Sakura City Hospital, Istanbul, Turkey
Department of Molecular Oncology, Hamidiye Institute of Health Sciences, University of Health Sciences, Istanbul, Turkey

Pol J Pathol 2025; 76 (3)

DOI: https://doi.org/10.5114/pjp.2025.156557

Online publish date: 2025/11/28

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Medullary thyroid carcinomas (MTCs) are 75% sporadic and 25% hereditary. This study aimed to determine the histopathological parameters and molecular changes of sporadic MTCs in a university hospital by targeted next-generation sequencing (NGS) including 62 genes. All RET mutations were missense mutations.

EIF1AX was suggested by artificial intelligence as a gene of interest for further analysis; subsequent testing revealed a pathogenic missense mutation in this gene in a patient with advanced-stage disease, who died at the 25th month of follow-up due to liver metastasis. We identified different gene mutations that could be associated with nodal metastasis in the presence or absence of RET mutation. We identified mutations that may be involved in tumour progression and have prognostic significance, such as HRAS, MAP3K1, and EIF1AX.

We observed KDR mutation in this cohort. Although driver mutations in sporadic medullary thyroid carcinoma (sMTC) mostly come from targeted NGS data in tumours from patients with localised disease, NGS findings can also be used for therapeutic purposes in advanced-stage sMTC cases with progressive local-regional or distant metastatic disease.

We believe that additional studies should be conducted with a larger number of patients so that the findings can be included in the treatment guidelines to be prepared.

keywords:

Molecular profiling of sporadic medullary thyroid carcinom as – a next-generation sequencing-based study

Serdar Altinay 1, 2 , Altan Kara 3 , Mustafa Emre Gülbağcı 2 , Ahmet Cem Dural 4 , Şaban Tekin 5, 6 , Tuğba Kul Köprülü 6, 7 , Nisa Begüm Erdoğan 8 , Meral Mert 9 , Ülkan Çelik 10 , Mustafa Turan 11, 12

thyroid, endocrine cancer, molecular, NGS, WES, mutation

Serdar Altinay

^{1, 2}

,

Altan Kara

³

,

Mustafa Emre Gülbağcı

²

,

Ahmet Cem Dural

⁴

,

Şaban Tekin

^{5, 6}

,

Tuğba Kul Köprülü

^{6, 7}

,

Nisa Begüm Erdoğan

⁸

,

Meral Mert

⁹

,

Ülkan Çelik

¹⁰

,

Mustafa Turan

^{11, 12}