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Endocrine
Published in: Endocrine 1/2021

01-01-2021 | Original Article

Molecular characterisation and clinical correlation of papillary thyroid microcarcinoma

Authors: Maria Teresa Samà, Enrico Grosso, Chiara Mele, Sara Laurora, Oriana Monzeglio, Paolo Marzullo, Renzo Boldorini, Paolo Aluffi Valletti, Gianluca Aimaretti, Maria Scatolini, Loredana Pagano

Published in: Endocrine | Issue 1/2021

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Abstract

Purpose

Papillary thyroid microcarcinoma (mPTC) is defined as a papillary thyroid cancer sized 10 mm or less. Despite their generally indolent clinical course and good prognosis, a subset of mPTCs shows potentially aggressive behaviour.

Methods

To search for predictors of clinical outcome of mPTCs, we retrospectively evaluated the genetic tumour profile of 100 patients (23 M/77 F, mean age ± SD 53.8 ± 13.4 years) with histologically confirmed mPTCs through analysis of BRAF, NRAS and TERT promoter mutations as well as RET/PTC translocations.

Results

Mean follow-up period was 8.4 ± 3.6 years. In 55 cases, mPTC were detected incidentally after surgery. Capsular invasion, bilateralism and multifocality were found in 11/100, 17/100 and 24/100 cases, respectively, while lymph-nodes metastases were present at diagnosis in 9/100 cases. After 3.5 ± 2.0 years, tumour relapse occurred in 6/100 cases and was locoregional in five (two in the thyroid bed, three in laterocervical lymph-nodes), while lung metastasis occurred in one case. Biochemical persistence of disease was seen in 1/100 case. Mutations occurred in 55/100 cases; BRAFV600E was the most frequently detected (49/100) and was associated with higher tumour size, bilateralism and follicular variant but not with capsular invasion. RET/PTC rearrangements were found in 2/100 cases, NRASQ61R in 4/100, while no mutations of TERT promoter gene were detected. Despite the observed association between BRAFV600E mutation and unfavourable histopathological features, we found no direct association with tumour recurrence, distant metastases and mortality.

Conclusion

In our study, the search for the most frequent genetic alterations as prognostic markers in mPTCs would not have changed the therapeutic strategy.
Appendix
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Metadata
Title
Molecular characterisation and clinical correlation of papillary thyroid microcarcinoma
Authors
Maria Teresa Samà
Enrico Grosso
Chiara Mele
Sara Laurora
Oriana Monzeglio
Paolo Marzullo
Renzo Boldorini
Paolo Aluffi Valletti
Gianluca Aimaretti
Maria Scatolini
Loredana Pagano
Publication date
01-01-2021
Publisher
Springer US
Published in
Endocrine / Issue 1/2021
Print ISSN: 1355-008X
Electronic ISSN: 1559-0100
DOI
https://doi.org/10.1007/s12020-020-02380-8

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