PMC4168750_01
Primary clear cell carcinoma of the thyroid.. The neoplastic cells have a small, peripheral nucleus, with abundant clear cytoplasm. Nests of carcinomatous elements are separated by a fibrous vascularized stroma. Hematoxylin and eosin staining, 5x.
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On microscopic examination, nests of carcinomatous elements separated by a fibrous vascularized stroma were observed ( Figure 1, hematoxylin and eosin).
Lung metastases.. Nuclear staining for TTF1 is strongly positive, 20x.
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Thyroid Transcription Factor 1 (TTF-1) ( Figure 2), confirming as a result that the organ primarily affected was indeed the thyroid. There were no metastases in other organs, and the kidneys, as seen previously, were free of tumour.
FLCN sequences.. The c.1062G>C wild type allele in exon 9 is lost in the tumour, while the patient is heterozygote for the mutation in the germline. Top sequence, control DNA. Middle sequence, germline DNA (normal tissue). Bottom sequence, tumour DNA.
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The c.1062G>C wild type allele was lost in the tumour, strongly suggesting loss of heterozygosity (LOH) ( Figure 3).