Search Results - "Genes chromosomes & cancer"

Tumor mutational burden standardization initiatives: Recommendations for consistent tumor mutational burden assessment in clinical samples to guide immunotherapy treatment decisions by Stenzinger, Albrecht, Allen, Jeffrey D., Maas, Jörg, Stewart, Mark D., Merino, Diana M., Wempe, Madison M., Dietel, Manfred

“…Characterization of tumors utilizing next‐generation sequencing methods, including assessment of the number of somatic mutations (tumor mutational burden…”
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A novel group of spindle cell tumors defined by S100 and CD34 co‐expression shows recurrent fusions involving RAF1, BRAF, and NTRK1/2 genes by Suurmeijer, Albert J. H., Dickson, Brendan C., Swanson, David, Zhang, Lei, Sung, Yun‐Shao, Cotzia, Paolo, Fletcher, Christopher D. M., Antonescu, Cristina R.

“…Tumors characterized by co‐expression of S100 and CD34, in the absence of SOX10, remain difficult to classify. Triggered by a few index cases with monomorphic…”
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Role of miRNAs in immune responses and immunotherapy in cancer by Cortez, Maria Angelica, Anfossi, Simone, Ramapriyan, Rishab, Menon, Hari, Atalar, Semra Cemre, Aliru, Maureen, Welsh, James, Calin, George A.

“…In the past decade, the study of mechanisms of cancer immunity has seen a prominent boom, which paralleled the increased amount of research on the clinical…”
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Molecular mechanisms of long noncoding RNAs‐mediated cancer metastasis by Li, Yajuan, Egranov, Sergey D., Yang, Liuqing, Lin, Chunru

“…Cancer metastasis is a multistep process that requires cancer cells to leave the primary site, survive in the blood stream, and finally colonize at a distant…”
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Chromosome territories and the global regulation of the genome by Fritz, Andrew J., Sehgal, Nitasha, Pliss, Artem, Xu, Jinhui, Berezney, Ronald

“…Spatial positioning is a fundamental principle governing nuclear processes. Chromatin is organized as a hierarchy from nucleosomes to Mbp chromatin domains…”
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MAP2K1 and MAP3K1 mutations in langerhans cell histiocytosis by Nelson, David S., van Halteren, Astrid, Quispel, Willemijn T., van den Bos, Cor, Bovée, Judith V.M.G., Patel, Bhumi, Badalian-Very, Gayane, van Hummelen, Paul, Ducar, Matthew, Lin, Ling, MacConaill, Laura E., Egeler, R. Maarten, Rollins, Barrett J.

“…Langerhans cell histiocytosis (LCH) is now understood to be a neoplastic disease in which over 50% of cases have somatic activating mutations of BRAF. However,…”
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Distinct transcriptional signature and immunoprofile of CIC-DUX4 fusion-positive round cell tumors compared to EWSR1-rearranged ewing sarcomas: Further evidence toward distinct pathologic entities by Specht, Katja, Sung, Yun-Shao, Zhang, Lei, Richter, Günther H. S., Fletcher, Christopher D., Antonescu, Cristina R.

“…Round cell sarcomas harboring CIC‐DUX4 fusions have recently been described as highly aggressive soft tissue tumors of children and young adults. Due to…”
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A novel WWTR1-CAMTA1 gene fusion is a consistent abnormality in epithelioid hemangioendothelioma of different anatomic sites by Errani, Costantino, Zhang, Lei, Sung, Yun Shao, Hajdu, Mihai, Singer, Samuel, Maki, Robert G., Healey, John H., Antonescu, Cristina R.

“…The classification of epithelioid vascular tumors remains challenging, as there is considerable morphological overlap between tumor subtypes, across the…”
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Emerging entities in NUTM1‐rearranged neoplasms by McEvoy, Christopher R., Fox, Stephen B., Prall, Owen W. J.

“…Structural alterations of NUTM1 were originally thought to be restricted to poorly differentiated carcinomas with variable squamous differentiation originating…”
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EWSR1-POU5F1 fusion in soft tissue myoepithelial tumors. A molecular analysis of sixty-six cases, including soft tissue, bone, and visceral lesions, showing common involvement of the EWSR1 gene by Antonescu, Cristina R., Zhang, Lei, Chang, Ning-En, Pawel, Bruce R., Travis, William, Katabi, Nora, Edelman, Morris, Rosenberg, Andrew E., Petur Nielsen, G., Cin, Paola Dal, Fletcher, Christopher D.M.

“…The diagnosis of myoepithelial (ME) tumors outside salivary glands remains challenging, especially in unusual clinical presentations, such as bone or visceral…”
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Near universal detection of alterations in CTNNB1 and Wnt pathway regulators in desmoid-type fibromatosis by whole-exome sequencing and genomic analysis by Crago, Aimee M., Chmielecki, Juliann, Rosenberg, Mara, O'Connor, Rachael, Byrne, Caitlin, Wilder, Fatima G., Thorn, Katherine, Agius, Phaedra, Kuk, Deborah, Socci, Nicholas D., Qin, Li-Xuan, Meyerson, Matthew, Hameed, Meera, Singer, Samuel

“…CTNNB1 mutations or APC abnormalities have been observed in ∼85% of desmoids examined by Sanger sequencing and are associated with Wnt/β‐catenin activation. We…”
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EWSR1-ATF1 fusion is a novel and consistent finding in hyalinizing clear-cell carcinoma of salivary gland by Antonescu, Cristina R., Katabi, Nora, Zhang, Lei, Sung, Yun Shao, Seethala, Raja R., Jordan, Richard C., Perez-Ordoñez, Bayardo, Have, Cherry, Asa, Sylvia L., Leong, Iona T., Bradley, Grace, Klieb, Hagen, Weinreb, Ilan

“…Hyalinizing clear‐cell carcinoma (HCCC) is a rare, low‐grade salivary gland tumor with distinctive clear‐cell morphology and pattern of hyalinization as well…”
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Recurrent NCOA2 gene rearrangements in congenital/infantile spindle cell rhabdomyosarcoma by Mosquera, Juan Miguel, Sboner, Andrea, Zhang, Lei, Kitabayashi, Naoki, Chen, Chun-Liang, Sung, Yun Shao, Wexler, Leonard H., LaQuaglia, Michael P., Edelman, Morris, Sreekantaiah, Chandrika, Rubin, Mark A., Antonescu, Cristina R.

“…Spindle cell rhabdomyosarcoma (RMS) is a rare form of RMS with different clinical characteristics between children and adult patients. Its genetic hallmark…”
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Identification of a novel, recurrent HEY1-NCOA2 fusion in mesenchymal chondrosarcoma based on a genome-wide screen of exon-level expression data by Wang, Lu, Motoi, Toru, Khanin, Raya, Olshen, Adam, Mertens, Fredrik, Bridge, Julia, Cin, Paola Dal, Antonescu, Cristina R., Singer, Samuel, Hameed, Meera, Bovee, Judith V.M.G., Hogendoorn, Pancras C. W., Socci, Nicholas, Ladanyi, Marc

“…Cancer gene fusions that encode a chimeric protein are often characterized by an intragenic discontinuity in the RNA\expression levels of the exons that are 5′…”
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The role of fork stalling and DNA structures in causing chromosome fragility by Kaushal, Simran, Freudenreich, Catherine H.

“…Alternative non‐B form DNA structures, also called secondary structures, can form in certain DNA sequences under conditions that produce single‐stranded DNA,…”
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Colorectal cancer susceptibility loci as predictive markers of rectal cancer prognosis after surgery by Hu, Yue, Gaedcke, Jochen, Emons, Georg, Beissbarth, Tim, Grade, Marian, Jo, Peter, Yeager, Meredith, Chanock, Stephen J., Wolff, Hendrik, Camps, Jordi, Ghadimi, B. Michael, Ried, Thomas

“…To understand the molecular mechanism of rectal cancer and develop markers for disease prognostication, we generated and explored a dataset from 243 rectal…”
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Gene fusions in soft tissue tumors: Recurrent and overlapping pathogenetic themes by Mertens, Fredrik, Antonescu, Cristina R., Mitelman, Felix

“…Gene fusions have been described in approximately one‐third of soft tissue tumors (STT); of the 142 different fusions that have been reported, more than half…”
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Comprehensive targeted next‐generation sequencing approach in the molecular diagnosis of gastrointestinal stromal tumor by Vanden Bempt, Isabelle, Vander Borght, Sara, Sciot, Raf, Spans, Lien, Claerhout, Sofie, Brems, Hilde, Lehnert, Stefan, Dehaspe, Luc, Fransis, Sabine, Neuville, Bart, Topal, Baki, Schöffski, Patrick, Legius, Eric, Debiec‐Rychter, Maria

“…Mutational analysis guides therapeutic decision making in patients with advanced‐stage gastrointestinal stromal tumors (GISTs). We evaluated three targeted…”
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Recurrent MYOD1 mutations in pediatric and adult sclerosing and spindle cell rhabdomyosarcomas: Evidence for a common pathogenesis by Agaram, Narasimhan P., Chen, Chun-Liang, Zhang, Lei, LaQuaglia, Michael P., Wexler, Leonard, Antonescu, Cristina R.

“…Sclerosing and spindle cell rhabdomyosarcoma (RMS) are rare types of RMS recently reclassified as a stand‐alone pathologic entity, separate from embryonal RMS…”
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Mutations in spliceosome genes and therapeutic opportunities in myeloid malignancies by Taylor, Justin, Lee, Stanley C.

“…Since the discovery of RNA splicing more than 40 years ago, our comprehension of the molecular events orchestrating constitutive and alternative splicing has…”
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