Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:2.7.7.48 (transcriptase)
 9,479 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

ALK-rearranged renal cell carcinoma is a provisional entity in the 2016 WHO Classification of Tumors of the Urinary System and Male Genital Organs. The reported fusion partners included VCL, TPM3, EML4, STRN, and HOOK1. Herein, we present a peculiar renal cell carcinoma morphologically resembling metanephric adenoma and harboring a novel PLEKHA7-ALK fusion. Microscopically, the tumor is composed of bland epithelial cells with scant to moderate amount of amphophilic cytoplasm, round and uniform nuclei, delicate chromatin, and inconspicuous nucleoli, arranged in tightly packed small acini and angulated tubules. Papillary formation, intraluminal glomeruloid tufts, microcysts, and solid nests were focally observed. Psammomatous calcifications were evident. The tumor cells were diffusely reactive for CK7, AMACR, PAX8, and ALK, while non-reactive for WT1, BRAF V600E, CD57, carbonic anhydrase IX, TFE3, and cathepsin K. Fluorescence in situ hybridization showed breaking apart of ALK. A novel PLEKHA7exon18-ALKexon20 fusion was detected using ArcherDX FusionPlex next-generation sequencing panel and was further confirmed with reverse-transcriptase PCR. Our case demonstrates that in contrast to prior cases showing high-grade tumor cells, ALK-rearranged renal cell carcinoma may also present as a low-grade renal tumor mimicking metanephric adenoma. Immunohistochemistry and molecular testing are helpful to identify this tumor, which may be eligible for ALK inhibitor-targeted therapy.
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PMID:ALK-rearranged renal cell carcinoma with a novel PLEKHA7-ALK translocation and metanephric adenoma-like morphology. 3207 45

Background: This study aims to explore the associations of human epidermal growth factor receptor 2 (HER2) and breast cancer susceptibility gene 1 (BRCA1) expression levels with prognosis and radiation sensitivity in patients with breast cancer. Methods: Breast cancer tissues, adjacent normal breast tissues, and benign breast lesions were initially obtained from 256 breast cancer patients as well as an additional 245 patients with breast lesions. Reverse transcriptase-quantitative polymerase chain reaction (RT-qPCR) was conducted to assess the expression of HER2 and BRCA1 in the collected tissues. Immunohistochemistry was performed to examine HER2 and BRCA1-positive expression levels in the tissues. The relationship between HER2 and BRCA1 expression levels and radiation sensitivity as well breast cancer prognosis was assessed by the Spearman correlation analysis and Kaplan-Meier survival analysis. Results: Compared with adjacent normal breast tissues and benign breast lesions, the breast cancer tissues exhibited high expression of HER2 mRNA and protein and low expression of BRCA1 mRNA and protein. Patients with positive HER2 expression had a significantly shorter survival time, and survival time of patients with positive BRCA1 expression was markedly longer, which were consistent with RT-qPCR results. After radiotherapy, the local failure rate of HER2-positive patients was higher than that of the negative ones, while that of BRCA1-positive patients was lower than that of the negative ones. Conclusions: This study suggested that breast cancer patients with high HER2 expression and low BRCA1 expression were less sensitive to radiotherapy with poor prognosis in breast cancer.
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PMID:Expression of HER2 and BRCA1 Correlates with Prognosis in Patients with Breast Cancer After Radiotherapy: A Case-Control Study. 3311 72


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