Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0677930 (primary tumor)
 20,210 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Thyroid cancer causing superior vena cava (SVC) syndrome is a very rare clinical entity with only 26 cases reported worldwide. Metastatic thyroid cancer causing SVC syndrome several years following resection of the primary tumor is extremely rare with only 2 cases reported; one of them was of the papillary variety. We report the second case worldwide of metastatic papillary thyroid cancer causing SVC syndrome 2 years after total thyroidectomy of the original tumor in a 62-year-old Indian female pilgrim. Unfortunately, the patient died on the third day of intensive care unit admission. The severity of the clinical condition in addition to the late presentation resulted in a catastrophic outcome, which made all the possible resuscitative efforts very difficult.
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PMID:Retrosternal Metastatic Papillary Thyroid Cancer Causing Superior Vena Cava Syndrome: A Very Rare Presentation. 2889 67

Background: Distant metastasis is a rare occurrence in thyroid cancer, and it can be associated with poor prognosis. The genomic repertoires of various solid malignancies have previously been reported but remain underexplored in metastatic papillary thyroid cancer (PTC). Furthermore, whether distant metastases harbor distinct genetic alterations beyond those observed in primary tumors is unknown. Methods: We performed whole-exome sequencing on 14 matched distant metastases, primary PTC tumors, and normal tissues. Point mutations, copy number alterations, cancer cell fractions, and mutational signatures were defined using the state-of-the-art bioinformatics methods. All likely deleterious variants were validated by orthogonal methods. Results: Genomic differences were observed between primary and distant metastatic deposits, with a median of 62% (range 21-92%) of somatic mutations detected in metastatic tissues, but absent from the corresponding primary tumor sample. Mutations in known driver genes including BRAF, NRAS, and HRAS were shared and preferentially clonal in both sites. However, likely deleterious variants affecting DNA methylation and transcriptional repression signaling genes including SIN3A, RBBP1, and CHD4 were found to be restricted in the metastatic lesions. Moreover, a mutational signature shift was observed between the mutations that are specific or enriched in the metastatic and primary lesions. Conclusions: Primary PTC and distant metastases differ in their range of somatic alterations. Genomic analysis of distant metastases provides an opportunity to identify potentially clinically informative alterations not detected in primary tumors, which might influence decisions for personalized therapy in PTC patients with distant metastasis.
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PMID:Whole-Exome Sequencing of Matched Primary and Metastatic Papillary Thyroid Cancer. 3166 33