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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.
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This institutional study sought to retrospectively evaluate disease progression and survival of patients with differentiated thyroid cancer (DTC) and bone metastases (BM) and to investigate variables ...
The extent of thyroid surgery for patients with low- and intermediate-risk differentiated thyroid carcinoma (DTC), with a primary tumour
We aimed to characterize the mutational profiles of poorly differentiated thyroid cancer (PDTC) and anaplastic thyroid cancer (ATC) in Chinese patients and to identify markers with potential diagnosti...
Poorly differentiated thyroid carcinoma (PDTC) patients have worse outcomes than patients with differentiated thyroid carcinoma (DTC), but the implication of poorly differentiated areas (PDAs) noted i...
This study aimed to compare the clinical outcomes of patients who received radioactive iodine (RAI) ablation after undergoing thyroidectomy for intermediate-to-high-risk differentiated thyroid carcino...
The Study is designed to assess the efficacy, safety and tolerability of vandetanib 300 mg daily in patients with differentiated thyroid cancer that is either locally advanced or metastati...
The purpose of this study is to compare the effects and safety of Anlotinib with placebo in patients with Differentiated Thyroid Cancer.
Participants will have been diagnosed with advanced progressive thyroid cancer and are about to start treatment with a tyrosine kinase inhibitor (TKI). The purpose of this study is to eva...
Human thyroglobulin (Tg) is the most sensitive biochemical marker for recurrence of differentiated cancer (DTC), especially after the complete removal of thyroid tissue through surgery and...
The aim of this study was to assess the impact of adjuvant radioactive iodine therapy on the quality of life(QOL) in differentiated thyroid cancer patients and to identify independent fact...
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.
The thyroid is a butterfly-shaped gland in the neck, just above thecollarbone and is an endocrine gland that make hormones. These Thyroid hormones control the rate of many activities in the body, including how fast the body burns calories and how fast th...
Osteoporosis is a disease in which the bones become extremely porous, are subject to fracture, and heal slowly, occurring especially in women following menopause and often leading to curvature of the spine from vertebral collapse. Follow and track&n...
DNA sequencing is the process of determining the precise order of nucleotides within a DNA molecule. During DNA sequencing, the bases of a small fragment of DNA are sequentially identified from signals emitted as each fragment is re-synthesized from a ...