Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027627 (metastases)
 103,950 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The thyroid gland is an uncommon site of metastatic disease. Renal cell carcinoma is the most common primary source, while metastasis from breast carcinoma is very rare. However, given that thyroid nodules are more common in women, and women with a history of breast cancer are at higher risk of developing thyroid cancer, the possibility of metastatic breast carcinoma must be considered when evaluating a thyroid nodule. We present the case of a 67-year-old woman who presented with dysphonia and dysphagia secondary to multinodular goiter and was found to have multifocal metastatic breast carcinoma in her surgical resection specimen. The histologic appearance focally mimicked C cell hyperplasia and medullary thyroid carcinoma, so immunohistochemistry was critical for establishing the diagnosis. Metastasis to the thyroid should always be included in the differential diagnosis for a thyroid nodule in a patient with a history of previous malignancy.
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PMID:Multifocal Metastatic Breast Carcinoma to the Thyroid Gland Histologically Mimicking C Cell Lesions. 3095 33

Papillary thyroid carcinoma (PTC) is the most common mali gnancy of the thyroid gland. In 21-90% of the patients occult lymph node metastases may occur. The case reported here describes a woman who underwent a total thyroidectomy for multinodular goiter and who presented an enlarged lymph node on the left side of the neck, which showed a metastasis from PTC. The patient underwent imaging investigation with CT and FNAB. The pathological examination diagnosed a papillary thyroid cancer metastases. The pT underwent a I131 total body scan, negative for secondary localization.
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PMID:Unusual presentation of metastatic thyroid cancer without a primary: role of diagnostic imaging in a daily clinical setting. 3148 15

Somatic hotspot DICER1 mutations, which frequently coexist with germline inactivating mutation (i.e., DICER1 syndrome), have been identified in various types of benign and malignant conditions. Herein, we report an autopsy case of prostatic rhabdomyosarcoma (RMS) with a hotspot DICER1 c.5125G>A (p.D1709N) mutation. A 26 year-old man presented with a prostatic mass, hematuria, and urinary retention. He underwent total pelvic exenteration, colostomy, ileal conduit construction and partial urethrectomy. Five months postoperatively, he developed multiple metastases to the lungs, brain, iliopsoas muscles and bones. He died of respiratory failure, and autopsy was performed. Microscopically, the tumor was primarily composed of uniform primitive mesenchymal cells infiltrating to the prostate with cambium layer. Rhabdomyoblasts and anaplastic cells were focally observed. Immunohistochemically, tumor cells were positive for desmin, myogenin, PAX7, HMGA2. Multinodular goiter was detected at autopsy. Because the morphology is similar to pleuropulmonary blastoma and DICER1-mutant RMS of the female genital tract, we tested and identified a hotspot DICER1 mutation with Sanger sequencing. Recognizing DICER1-mutant tumor is important because of its frequent association with germline DICER1 inactivation and potential therapeutic implication. Further research is needed to clarify whether this case can be classified as embryonal RMS with anaplasia or 'DICER1-associated sarcoma'.
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PMID:An autopsy case of prostatic rhabdomyosarcoma with DICER1 hotspot mutation. 3311 96


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