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2,357 results on '"Antonescu, Cristina R."'

5. Interpretable artificial intelligence to optimise use of imatinib after resection in patients with localised gastrointestinal stromal tumours: an observational cohort study

Author

Bertsimas, Dimitris, Margonis, Georgios Antonios, Sujichantararat, Suleeporn, Koulouras, Angelos, Ma, Yu, Antonescu, Cristina R, Brennan, Murray F, Martín-Broto, Javier, Tang, Seehanah, Rutkowski, Piotr, Kreis, Martin E, Beyer, Katharina, Wang, Jane, Bylina, Elzbieta, Sobczuk, Pawel, Gutierrez, Antonio, Jadeja, Bhumika, Tap, William D, Chi, Ping, and Singer, Samuel

Published
2024
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11. An interpretable AI model for recurrence prediction after surgery in gastrointestinal stromal tumour: an observational cohort study

Author

Bertsimas, Dimitris, Margonis, Georgios Antonios, Tang, Seehanah, Koulouras, Angelos, Antonescu, Cristina R., Brennan, Murray F., Martin-Broto, Javier, Rutkowski, Piotr, Stasinos, Georgios, Wang, Jane, Pikoulis, Emmanouil, Bylina, Elzbieta, Sobczuk, Pawel, Gutierrez, Antonio, Jadeja, Bhumika, Tap, William D., Chi, Ping, and Singer, Samuel

Published
2023
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12. Clinical and molecular characterization of primary sclerosing epithelioid fibrosarcoma of bone and review of the literature

Author

Tsuda, Yusuke, Dickson, Brendan C, Dry, Sarah M, Federman, Noah, Suurmeijer, Albert JH, Swanson, David, Sung, Yun‐Shao, Zhang, Lei, Healey, John H, and Antonescu, Cristina R

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Clinical Sciences, Genetics, Rare Diseases, Cancer, Pediatric, 2.1 Biological and endogenous factors, Aetiology, Adolescent, Adult, Biomarkers, Tumor, Biopsy, Bone Neoplasms, Child, Diagnostic Imaging, Disease Management, Disease Susceptibility, Female, Fibrosarcoma, Gene Rearrangement, Genetic Predisposition to Disease, High-Throughput Nucleotide Sequencing, Humans, In Situ Hybridization, Fluorescence, Male, Middle Aged, Oncogene Proteins, Fusion, Young Adult, EWSR1, fusions, sclerosing epithelioid fibrosarcoma, CREB3L1, CREB3L2, EWSR1, Oncology and Carcinogenesis, Oncology & Carcinogenesis, Oncology and carcinogenesis
Abstract

Sclerosing epithelioid fibrosarcoma (SEF) is a rare sarcoma subtype characterized by monomorphic epithelioid cells embedded in a densely sclerotic collagenous matrix. The overwhelming majority of tumors arise in soft tissues; however, rare cases have been documented to occur primarily in bone. The hallmarks of soft tissue SEF include MUC4 immunoreactivity and the presence of an EWSR1-CREB3L1 fusion. Rare cases with alternative fusions have also been reported such as EWSR1-CREB3L2 and FUS-CREB3L2 transcripts. The molecular alterations of skeletal SEF have not been well-defined, with only rare cases analyzed to date. In this study we investigated the clinicopathologic and molecular features of seven patients presenting with primary osseous SEF. There were 3 males and 4 females, with a mean age at diagnosis of 38 years. All cases had microscopic features within the histologic spectrum of SEF and showed strong and diffuse MUC4 positivity, while lacking SATB2 expression. However, due to its unusual presentation within bone, four cases were initially misinterpreted as either osteosarcoma, Ewing sarcoma or chondroblastoma. Half of the patients with follow-up data developed metastasis. The cases were tested by targeted RNA sequencing, MSK-IMPACT, and/or fluorescence in situ hybridization, showing EWSR1-CREB3L1 in six cases and EWSR1-CREB3L2 in one case. The fusion transcripts were composed of EWSR1 exon 11 to either exon 6 of CREB3L1 or CREB3L2. In summary, due to their rarity in the bone, skeletal SEF are often misdiagnosed, resulting in inadequate treatment modalities. Similar to their soft tissue counterpart, bone SEF follow an aggressive clinical behavior and show similar EWSR1-CREB3L1/CREB3L2 fusions.

Published
2020

23. Expanding the clinicopathologic spectrum and genomic landscape of tumors with SMARCA2/4::CREM fusions.

Author

Cyrta, Joanna, Dermawan, Josephine K, Tauziède‐Espariat, Arnault, Liu, Ting, Rosenblum, Marc, Shroff, Seema, Katabi, Nora, Cardoen, Liesbeth, Guillemot, Delphine, Masliah‐Planchon, Julien, Hoare, Owen, Delattre, Olivier, Bale, Tejus, Bourdeaut, Franck, and Antonescu, Cristina R

Subjects
SOFT tissue tumors, TUMORS in children, GENE fusion, YOUNG adults, LYMPHATIC metastasis
Abstract

CREB gene family (ATF1, CREB1, CREM) fusions with either EWSR1 or FUS gene partners drive the pathogenesis of a wide range of neoplasms, including various soft tissue tumors, intracranial myxoid mesenchymal tumors (IMMTs), hyalinizing clear cell carcinoma (HCCC), and rare mesotheliomas. Recently, a SMARCA2::CREM fusion was reported in one case each of IMMT and HCCC. In this study, we expand the clinicopathologic and molecular spectrum of these neoplasms by describing three additional cases with SMARCA2::CREM and one with a novel SMARCA4::CREM fusion, highlighting the recurrent potential of additional CREB gene fusion partners beyond FET family members. To evaluate if these fusions define a new pathologic entity, we performed a comprehensive genomic and methylation analysis and compared the results to other related tumors. Tumors occurred in children and young adults (median age 20 years) and spanned a broad anatomic distribution, including soft tissue, intracranial, head and neck, and prostatic urethra. Microscopically, the tumors shared an undifferentiated round to epithelioid cell phenotype and a hyalinized fibrous stroma. Immunohistochemically, a polyphenotypic profile was observed, with variable expression of SOX10, desmin, and/or epithelial markers. No targetable genomic alterations were found using panel‐based DNA sequencing. By DNA methylation and transcriptomic analyses, tumors grouped closely to FET::CREB entities, but not with SMARCA4/SMARCB1‐deficient tumors. High expression of CREM by immunohistochemistry was also documented in these tumors. Patients experienced local recurrence (n = 2), locoregional lymph node metastases (n = 2), and an isolated visceral metastasis (n = 1). Overall, our study suggests that SMARCA2/4::CREM fusions define a distinct group of neoplasms with round cell to epithelioid histology, a variable immunoprofile, and a definite risk of malignancy. Larger studies are needed to further explore the pathogenetic relationship with the FET::CREB family of tumors. © 2024 The Pathological Society of Great Britain and Ireland. [ABSTRACT FROM AUTHOR]

Published
2024
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25. Ectomesenchymal Chondromyxoid Tumor

Author

Dickson, Brendan C, Antonescu, Cristina R, Argyris, Prokopios P, Bilodeau, Elizabeth A, Bullock, Martin J, Freedman, Paul D, Gnepp, Douglas R, Jordan, Richard C, Koutlas, Ioannis G, Lee, Cheng-Han, Leong, Iona, Merzianu, Mihai, Purgina, Bibianna M, Thompson, Lester DR, Wehrli, Bret, Wright, John M, Swanson, David, Zhang, Lei, and Bishop, Justin A

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Clinical Research, Genetics, Human Genome, Cancer, Aetiology, 2.1 Biological and endogenous factors, Actins, Adolescent, Adult, Biomarkers, Tumor, DNA-Binding Proteins, Desmin, Female, Gene Fusion, Genetic Predisposition to Disease, Glial Fibrillary Acidic Protein, Humans, Immunohistochemistry, In Situ Hybridization, Fluorescence, Keratins, Male, Middle Aged, Neoplasms, Connective and Soft Tissue, Phenotype, Retrospective Studies, S100 Proteins, Sequence Analysis, RNA, Tongue Neoplasms, Transcription Factors, Young Adult, ectomesenchymal chondromyxoid tumor, tongue, gene rearrangement, RREB1, MKL2, EWSR1, CREM, Pathology, Clinical sciences
Abstract

Ectomesenchymal chondromyxoid tumor is a rare and benign neoplasm with a predilection for the anterior dorsal tongue. Despite morphologic heterogeneity, most cases are characterized by a proliferation of bland spindle cells with a distinctive reticular growth pattern and myxoid stroma. The immunophenotype of these neoplasms is likewise variable; most cases express glial fibrillary acid protein and S100 protein, with inconsistent reports of keratin and myoid marker expression. The molecular pathogenesis is poorly understood; however, a subset of cases has been reported to harbor EWSR1 gene rearrangement. Following identification of an RREB1-MKL2 fusion gene by RNA Sequencing in an index patient, a retrospective review of additional cases of ectomesenchymal chondromyxoid tumors was performed to better characterize the clinical, immunohistochemical, and molecular attributes of this neoplasm. A total of 21 cases were included in this series. A marked predisposition for the dorsal tongue was confirmed. Most cases conformed to prior morphologic descriptions; however, hypercellularity, hyalinized stroma, and necrosis were rare attributes not previously emphasized. The neoplastic cells frequently coexpressed glial fibrillary acid protein, S100 protein, keratin, smooth muscle actin, and/or desmin; a single case was found to contain significant myogenin expression. An RREB1-MKL2 fusion product was identified in 19 tumors (90%), a single tumor (5%) had an EWSR1-CREM fusion product, and the remaining case lacked any known fusion gene by RNA Sequencing. The latter 2 cases subtly differed morphologically from many in the cohort. This series illustrates that recurrent RREB1-MKL2 fusions occur in most, perhaps all, cases of ectomesenchymal chondromyxoid tumor.

Published
2018

26. An international working group consensus report for the prioritization of molecular biomarkers for Ewing sarcoma

Author

Shulman, David S., Whittle, Sarah B., Surdez, Didier, Bailey, Kelly M., de Álava, Enrique, Yustein, Jason T., Shlien, Adam, Hayashi, Masanori, Bishop, Alexander J. R., Crompton, Brian D., DuBois, Steven G., Shukla, Neerav, Leavey, Patrick J., Lessnick, Stephen L., Kovar, Heinrich, Delattre, Olivier, Grünewald, Thomas G. P., Antonescu, Cristina R., Roberts, Ryan D., Toretsky, Jeffrey A., Tirode, Franck, Gorlick, Richard, Janeway, Katherine A., Reed, Damon, Lawlor, Elizabeth R., and Grohar, Patrick J.

Published
2022
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27. Clinical sequencing of soft tissue and bone sarcomas delineates diverse genomic landscapes and potential therapeutic targets

Author

Nacev, Benjamin A., Sanchez-Vega, Francisco, Smith, Shaleigh A., Antonescu, Cristina R., Rosenbaum, Evan, Shi, Hongyu, Tang, Cerise, Socci, Nicholas D., Rana, Satshil, Gularte-Mérida, Rodrigo, Zehir, Ahmet, Gounder, Mrinal M., Bowler, Timothy G., Luthra, Anisha, Jadeja, Bhumika, Okada, Azusa, Strong, Jonathan A., Stoller, Jake, Chan, Jason E., Chi, Ping, D’Angelo, Sandra P., Dickson, Mark A., Kelly, Ciara M., Keohan, Mary Louise, Movva, Sujana, Thornton, Katherine, Meyers, Paul A., Wexler, Leonard H., Slotkin, Emily K., Glade Bender, Julia L., Shukla, Neerav N., Hensley, Martee L., Healey, John H., La Quaglia, Michael P., Alektiar, Kaled M., Crago, Aimee M., Yoon, Sam S., Untch, Brian R., Chiang, Sarah, Agaram, Narasimhan P., Hameed, Meera R., Berger, Michael F., Solit, David B., Schultz, Nikolaus, Ladanyi, Marc, Singer, Samuel, and Tap, William D.

Published
2022
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28. Pilot study of bempegaldesleukin in combination with nivolumab in patients with metastatic sarcoma

Author

D’Angelo, Sandra P., Richards, Allison L., Conley, Anthony P., Woo, Hyung Jun, Dickson, Mark A., Gounder, Mrinal, Kelly, Ciara, Keohan, Mary Louise, Movva, Sujana, Thornton, Katherine, Rosenbaum, Evan, Chi, Ping, Nacev, Benjamin, Chan, Jason E., Slotkin, Emily K., Kiesler, Hannah, Adamson, Travis, Ling, Lilan, Rao, Pavitra, Patel, Shreyaskumar, Livingston, Jonathan A., Singer, Samuel, Agaram, Narasimhan P., Antonescu, Cristina R., Koff, Andrew, Erinjeri, Joseph P., Hwang, Sinchun, Qin, Li-Xuan, Donoghue, Mark T. A., and Tap, William D.

Published
2022
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32. Intimal sarcomas and undifferentiated cardiac sarcomas carry mutually exclusive MDM2, MDM4, and CDK6 amplifications and share a common DNA methylation signature

Author

Koelsche, Christian, Benhamida, Jamal K., Kommoss, Felix K.F., Stichel, Damian, Jones, David T.W., Pfister, Stefan M., Heilig, Christoph E., Fröhling, Stefan, Stenzinger, Albrecht, Buslei, Rolf, Mentzel, Thomas, Baumhoer, Daniel, Ladanyi, Marc, Antonescu, Cristina R., Flucke, Uta, Gorp, Joost van, Bode-Lesniewska, Beata, Deimling, Andreas von, and Mechtersheimer, Gunhild

Published
2021
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40. Histopathologic evaluation of atypical neurofibromatous tumors and their transformation into malignant peripheral nerve sheath tumor in patients with neurofibromatosis 1—a consensus overview

Author

Miettinen, Markku M, Antonescu, Cristina R, Fletcher, Christopher DM, Kim, Aerang, Lazar, Alexander J, Quezado, Martha M, Reilly, Karlyne M, Stemmer-Rachamimov, Anat, Stewart, Douglas R, Viskochil, David, Widemann, Brigitte, and Perry, Arie

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Rare Diseases, Biotechnology, Cancer, Clinical Research, Pediatric, Neurofibromatosis, Neurosciences, Orphan Drug, Biomarkers, Tumor, Biopsy, Cell Nucleus, Consensus, Disease Progression, Humans, Immunohistochemistry, Mitosis, Neoplasm Grading, Neurilemmoma, Neurofibromatosis 1, Predictive Value of Tests, Terminology as Topic, Neurofibroma, Atypia, Malignant peripheral nerve sheath tumor, Transformation, Pathology, Clinical sciences
Abstract

Patients with neurofibromatosis 1 (NF1) develop multiple neurofibromas, with 8% to 15% of patients experiencing malignant peripheral nerve sheath tumor (MPNST) during their lifetime. Prediction of transformation, typically from plexiform neurofibroma, is clinically and histologically challenging. In this overview, after a consensus meeting in October 2016, we outline the histopathologic features and molecular mechanisms involved in the malignant transformation of neurofibromas. Nuclear atypia alone is generally insignificant. However, with atypia, loss of neurofibroma architecture, high cellularity, and/or mitotic activity >1/50 but

Published
2017

41. A clinicopathologic study on SS18 fusion positive head and neck synovial sarcomas

Author

Owosho, Adepitan A, Estilo, Cherry L, Rosen, Evan B, Yom, SaeHee K, Huryn, Joseph M, and Antonescu, Cristina R

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Dental/Oral and Craniofacial Disease, Rare Diseases, Cancer, Pediatric, Adult, Aged, Combined Modality Therapy, Female, Head and Neck Neoplasms, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Oncogene Proteins, Fusion, Proto-Oncogene Proteins, Recurrence, Repressor Proteins, Retrospective Studies, Sarcoma, Synovial, Survival Analysis, Synovial sarcoma, Head and neck sarcomas, SS18-SSX, t(X, 18), t(X, 18), Dentistry, Oncology and Carcinogenesis, Public Health and Health Services, Oncology & Carcinogenesis, Oncology and carcinogenesis
Abstract

ObjectiveTo determine clinicopathologic factors on survival in patients with head and neck synovial sarcoma.Patients and methodsWe retrospectively identified patients with molecularly confirmed synovial sarcomas of the head and neck (SS-HN), either by the presence of SS18-SSX fusion transcript by RT-PCR or SS18 gene rearrangement by FISH, who were managed at our institution over a 20-year period (1996-2015). Kaplan-Meier survival analysis and log-rank test were performed to evaluate variables related to disease specific survival (DSS). Fisher exact test was performed to evaluate variables related to local recurrence.ResultsThirty-four patients (20 males and 14 females, mean of 31years) with SS18-SSX fusion-positive SS-HN were identified. The parapharyngeal region of the neck was the most common site. The mean tumor size was 4.8cm (0.8-10cm). Two-thirds (n=23) of cases had a monophasic histology. The 2, 5 and 10-year DSS rates were 97%, 79% and 68%. The 5-year DSS rates for the adult/pediatric cohort were 74%/88%. Recurrence showed significant effect on DSS (p=0.021). There was no significant effect on DSS with age, therapy modality, tumor site, surgical margin, tumor size (⩽5cm vs. >5cm) and histopathologic subtype. Tumor site (i.e. skull base/paranasal sinus region) was associated with local recurrence (p=0.003).ConclusionIn our cohort DSS rate was associated with recurrence. Tumors located in the skull base/paranasal sinus region were associated with a higher rate of local recurrence. Thus appropriate selection of high risk patients who can benefit from multimodality therapies might improve survival.

Published
2017

46. High-grade transformation of low-grade endometrial stromal sarcomas lacking YWHAE and BCOR genetic abnormalities

Author

Zou, Youran, Turashvili, Gulisa, Soslow, Robert A., Park, Kay J., Croce, Sabrina, McCluggage, W. Glenn, Stewart, Colin J.R., Oda, Yoshinao, Oliva, Esther, Young, Robert H., Da Cruz Paula, Arnaud, Dessources, Kimberly, Ashley, Charles W., Hensley, Martee L., Yip, Stephen, Weigelt, Britta, Benayed, Ryma, Antonescu, Cristina R., Lee, Cheng-Han, and Chiang, Sarah

Published
2020
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