Cytological and molecular diagnosis of solid variant of papillary thyroid carcinoma: A case report

Giancarlo Troncone,Maria Russo,Lucio Palombini,Immacolata Cozzolino,Angelo Ferraro,Marina Accardo,Umberto Malapelle

doi:10.1186/1742-6413-5-2

Giancarlo Troncone, Maria Russo + Show 5 more

Open Access

https://doi.org/10.1186/1742-6413-5-2

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Journal: Cytojournal	Publication Date: Jan 1, 2008
Citations: 34	License type: CC BY 2.0

Affiliation: University of Naples Federico II

Abstract

Papillary thyroid carcinoma (PTC) composed by predominant solid areas is diagnosed as a distinct variant on histological samples. Here we present a case of PTC recognized preoperatively by fine needle cytology as a solid variant. This diagnosis was made by combining cytology with the detection of the BRAFVK600-1E mutation, the molecular hallmark of the solid variant of PTC. Histological and molecular evaluation of the surgical specimen confirmed this pre-operative diagnosis. Thus combining cytology to BRAF molecular analysis is useful to refine the cytological diagnosis of this variant also on FNC specimens.

Highlights

The solid variant of papillary thyroid carcinoma (PTC) is dominated by solid sheets of tumour cells showing typical nuclear features [1]
Analysis of a large series of histological samples of Papillary thyroid carcinoma (PTC) has shown a close relationship between PTC typing and some BRAF mutations, which can be exploited to specify the variant of PTC preoperatively [11]
In the present study we report a combined cytological and molecular diagnosis of solid variant of papillary thyroid carcinoma

Summary

Introduction

The solid variant of papillary thyroid carcinoma (PTC) is dominated by solid sheets of tumour cells showing typical nuclear features [1]. A triplet deletion of the BRAF gene leading to the replacement of a valine and a lysine by a glutamate (BRAF V600E + K601), has been associated only to the solid variant of PTC on histological samples by Trovisco et al [12] This latter relationship has been confirmed in a recent investigation by Lupi et al; this latter study showed the very low frequency of this event, that occurred in one case out of 500 PTCs histologically examined [13]. DNA was purified from tumour paraffin embedded block by using the QIAAMP DNA Mini Kit (QIAGEN Inc.) and the same molecular analysis above described for the cytological sample was applied; the TGA 1799–1801 deletion was detected on the matched histological specimen (Fig. 4C)

Conclusion

Xing M: BRAF Mutation in Papillary Thyroid Cancer