08:00 EDT 14th August 2019 | BioPortfolio


Differentiated thyroid cancer patients uncommonly present with bone metastasis as initial manifestation. Their molecular profile is largely unknown. The aim of this study was to evaluate histopathology, molecular profiles, and response to radioactive iodine therapy in these patients. Eight patients presented with symptomatic bone metastasis from an unknown primary tumor. We identified these patients by performing a retrospective chart review. Pathology slides were reviewed and molecular analysis of 112 thyroid cancer-related genes was performed on bone metastasis specimens using targeted next-generation sequencing, ThyroSeq v3 assay. These patients presented with long bone fractures, spinal cord compression, or intractable bone pain. Histopathological analysis of the bone and thyroid tumor specimens revealed follicular variant of papillary carcinoma in seven patients and tall cell variant papillary carcinoma in one. Primary tumor size ranged from 0.4 to 7.5 cm. All patients received high dose radioiodine therapy following thyroidectomy. Molecular analysis revealed mutations in seven (88%) tumors, four (50%) contained co-occurring and , two had isolated , and one with and V600E mutations respectively. Tumors carrying , or a combination of these mutations were radioiodine-avid, with predictable tumor response and reduction in serum thyroglobulin levels. One patient with radioiodine-refractory disease harbored and mutations. These results demonstrate that differentiated thyroid cancers presenting with bone metastasis independent of the primary tumor size have a high prevalence of mutations, frequently coexisting with mutations. This molecular signature may predict a favorable response to radioiodine therapy.


Journal Details

This article was published in the following journal.

Name: Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists
ISSN: 1530-891X


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Medical and Biotech [MESH] Definitions

An aggressive THYROID GLAND malignancy which generally occurs in IODINE-deficient areas in people with previous thyroid pathology such as GOITER. It is associated with CELL DEDIFFERENTIATION of THYROID CARCINOMA (e.g., FOLLICULAR THYROID CARCINOMA; PAPILLARY THYROID CANCER). Typical initial presentation is a rapidly growing neck mass which upon metastasis is associated with DYSPHAGIA; NECK PAIN; bone pain; DYSPNEA; and NEUROLOGIC DEFICITS.

A homeobox protein and transcription factor that localizes to the cell nucleus where it activates expression of thyroid specific genes such as THYROGLOBULIN and the THYROTROPIN RECEPTOR. It is critical for maintaining thyroid tissue in a differentiated state and also plays a role in lung development. Mutations in the NKX2-1 gene are associated with CHOREA, BENIGN HEREDITARY.

Tumors or cancer of the THYROID GLAND.

Defective development of the THYROID GLAND. This concept includes thyroid agenesis (aplasia), hypoplasia, or an ectopic gland. Clinical signs usually are those of CONGENITAL HYPOTHYROIDISM.

An inherited autosomal recessive trait, characterized by peripheral resistance to THYROID HORMONES and the resulting elevation in serum levels of THYROXINE and TRIIODOTHYRONINE. This syndrome is caused by mutations of gene THRB encoding the THYROID HORMONE RECEPTORS BETA in target cells. HYPOTHYROIDISM in these patients is partly overcome by the increased thyroid hormone levels.

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