Genomes and Genes
C R Antonescu
Affiliation: Memorial Sloan-Kettering Cancer Center
- Italiano A, Chen C, Sung Y, Singer S, Dematteo R, Laquaglia M, et al. SDHA loss of function mutations in a subset of young adult wild-type gastrointestinal stromal tumors. BMC Cancer. 2012;12:408 pubmed publisher..Although pediatric GIST consistently display alterations of SDHB protein expression, further molecular studies are needed to identify the crucial genes involved in their tumorigenesis. ..
- Agaram N, LeLoarer F, Zhang L, Hwang S, Athanasian E, Hameed M, et al. USP6 gene rearrangements occur preferentially in giant cell reparative granulomas of the hands and feet but not in gnathic location. Hum Pathol. 2014;45:1147-52 pubmed publisher..Fluorescence in situ hybridization for USP6 break-apart is a useful ancillary tool in the diagnosis of primary ABCs and distinguishing them from GCRGs and other morphologically similar lesions. ..
- Antonescu C, Zhang L, Chang N, Pawel B, Travis W, Katabi N, et al. 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. Genes Chromosomes Cancer. 2010;49:1114-24 pubmed publisher..These findings do not support a pathogenetic relationship between soft tissue ME tumors and their salivary gland counterparts. ..
- Antonescu C, Dal Cin P, Nafa K, Teot L, Surti U, Fletcher C, et al. EWSR1-CREB1 is the predominant gene fusion in angiomatoid fibrous histiocytoma. Genes Chromosomes Cancer. 2007;46:1051-60 pubmed..Thus, identical fusions involving ATF1 and CREB1 are found in two distinct sarcomas, which may be able to transform two different types of mesenchymal precursor cells, unlike most other sarcoma gene fusions. ..
- Owosho A, Estilo C, Rosen E, Yom S, Huryn J, Antonescu C. A clinicopathologic study on SS18 fusion positive head and neck synovial sarcomas. Oral Oncol. 2017;66:46-51 pubmed publisher..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. ..
- Owosho A, Estilo C, Huryn J, Chi P, Antonescu C. A Clinicopathologic Study of Head and Neck Malignant Peripheral Nerve Sheath Tumors. Head Neck Pathol. 2018;12:151-159 pubmed publisher..0001). We conclude that HN-MPNSTs are highly aggressive sarcomas associated with an unfavorable outcome and the utility of H3K27me3 IHC stains in the evaluation of MPNST is a reliable ancillary diagnostic adjunct. ..
- Antonescu C, Katabi N, Zhang L, Sung Y, Seethala R, JORDAN R, et al. EWSR1-ATF1 fusion is a novel and consistent finding in hyalinizing clear-cell carcinoma of salivary gland. Genes Chromosomes Cancer. 2011;50:559-70 pubmed publisher..The distinction from MEC is particularly important, as conventional MEC grading schemes overgrade these indolent HCCCs, potentially impacting on treatment...
- Antonescu C, Le Loarer F, Mosquera J, Sboner A, Zhang L, Chen C, et al. Novel YAP1-TFE3 fusion defines a distinct subset of epithelioid hemangioendothelioma. Genes Chromosomes Cancer. 2013;52:775-84 pubmed publisher..All tumors expressed endothelial markers, as well as strong nuclear TFE3. In summary, we are reporting a novel subset of EHE occurring in young adults, showing a distinct phenotype and YAP1-TFE3 fusions. ..
- Owosho A, Huang S, Chen S, Kashikar S, Estilo C, Wolden S, et al. A clinicopathologic study of head and neck rhabdomyosarcomas showing FOXO1 fusion-positive alveolar and MYOD1-mutant sclerosing are associated with unfavorable outcome. Oral Oncol. 2016;61:89-97 pubmed publisher..001), and recurrence (P=0.002). Multivariate analysis confirmed histologic subtype to be significant (P=0.043). Our findings reinforce that HNRMS is a heterogenous disease with ARMS and SRMS-ScRMS having an equally unfavorable outcome. ..
- Owosho A, Estilo C, Huryn J, Zhang L, Fletcher C, Antonescu C. Head and Neck Round Cell Sarcomas: A Comparative Clinicopathologic Analysis of 2 Molecular Subsets: Ewing and CIC-Rearranged Sarcomas. Head Neck Pathol. 2017;11:450-459 pubmed publisher..Our findings suggest that HN-CRS have different clinical presentation and pathologic features compared to ES and should be classified as a stand-alone pathologic entity. ..
- Antonescu C, Zhang L, Nielsen G, Rosenberg A, Dal Cin P, Fletcher C. Consistent t(1;10) with rearrangements of TGFBR3 and MGEA5 in both myxoinflammatory fibroblastic sarcoma and hemosiderotic fibrolipomatous tumor. Genes Chromosomes Cancer. 2011;50:757-64 pubmed publisher..FISH analysis for TGFBR3 and MGEA5 rearrangements can be applied as a reliable diagnostic molecular test when confronted with limited material or a challenging diagnosis. ..
- Antonescu C, Zhang L, Shao S, Mosquera J, Weinreb I, Katabi N, et al. Frequent PLAG1 gene rearrangements in skin and soft tissue myoepithelioma with ductal differentiation. Genes Chromosomes Cancer. 2013;52:675-82 pubmed publisher..A subset of cutaneous and soft tissue ME tumors appears genetically linked to their salivary gland counterparts, displaying frequent PLAG1 gene rearrangements and occasionally LIFR-PLAG1 fusion...
- Antonescu C. Gastrointestinal stromal tumor (GIST) pathogenesis, familial GIST, and animal models. Semin Diagn Pathol. 2006;23:63-9 pubmed..This is a US government work. There are no restrictions on its use...
- Antonescu C, Tschernyavsky S, Decuseara R, Leung D, Woodruff J, Brennan M, et al. Prognostic impact of P53 status, TLS-CHOP fusion transcript structure, and histological grade in myxoid liposarcoma: a molecular and clinicopathologic study of 82 cases. Clin Cancer Res. 2001;7:3977-87 pubmed..We also analyzed P53 status, because this parameter has been found to have a significant prognostic impact in other sarcomas with chromosomal translocations...