J Korean Med Sci.  2017 Oct;32(10):1721-1726. 10.3346/jkms.2017.32.10.1721.

Rare Manifestations of Anaplastic Thyroid Carcinoma: the Role of BRAF Mutation Analysis

• Song YS
• Jung CK
• Jung KC
• Park YJ
• Won JK

• KMID: 2400449
• DOI: http://doi.org/10.3346/jkms.2017.32.10.1721

Abstract

Anaplastic thyroid carcinoma (ATC) is difficult to distinguish from other cancers, especially when its pathological features are atypical for ATC or when the tumor is totally undifferentiated and occurs after a considerable lapse of time, in an area remote from the original site of the tumor. Here, we present two patients (68-year-old man and 56-year-old woman) with rare manifestations of ATC, which were initially thought to be other malignancies. Immunohistochemical tests, using various markers, failed to provide information about the origin of these tumors. However, both patients had a history of papillary thyroid carcinoma (PTC) from several years ago and BRAF mutations were observed in the undifferentiated tumors, as well as in the previous PTCs. Therefore, we could make a diagnosis of ATC derived from PTC. As such, BRAF mutation analysis may serve as a useful tool for ATC diagnosis in challenging ATC cases.

Keyword

Anaplastic Thyroid Carcinoma; BRAF; Papillary Thyroid Carcinoma; Immunohistochemistry

MeSH Terms

Diagnosis
Humans
Immunohistochemistry
Middle Aged
Thyroid Carcinoma, Anaplastic*
Thyroid Neoplasms

Figure

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  Fig. 1 Histological and immunohistochemical features of case 1. (A) Sarcomatoid carcinoma of the neck shows the tubular structures with the sarcomatous background (H & E staining, × 100). (B) Tubular structures have mucin pools (H & E staining, × 200). (C) Both components were positive for CK7 (× 40). (D) Direct sequencing of the BRAF gene shows a missense mutation (c.1799T>A). (E, F) Neck lymph nodes, that were dissected 3 years ago, show the histology of papillary carcinoma (H & E staining, × 100) (E) and the presence of BRAF (× 100) (F). H & E = hematoxylin and eosin, CK = cytokeratin.

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  Fig. 2 Histological and immunohistochemical features of case 2. (A) Metastatic lesion of the brain shows an undifferentiated histology (H & E staining, × 200). (B-D) Metastatic foci of the brain were negative for TTF-1, (B) but positive for PAX8, (C) and BRAF (D) (× 100). (E, F) The neck node, which was removed one year earlier, shows the presence of papillary carcinoma (E) (H & E, × 200) and a missense mutation in the BRAF gene (c.1799T>A) (F). H & E = hematoxylin and eosin, TTF-1 = thyroid transcription factor-1, PAX8 = paired box gene 8.

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