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356 results

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Page 1
Integrated Proteogenomic Characterization across Major Histological Types of Pediatric Brain Cancer.
Petralia F, Tignor N, Reva B, Koptyra M, Chowdhury S, Rykunov D, Krek A, Ma W, Zhu Y, Ji J, Calinawan A, Whiteaker JR, Colaprico A, Stathias V, Omelchenko T, Song X, Raman P, Guo Y, Brown MA, Ivey RG, Szpyt J, Guha Thakurta S, Gritsenko MA, Weitz KK, Lopez G, Kalayci S, Gümüş ZH, Yoo S, da Veiga Leprevost F, Chang HY, Krug K, Katsnelson L, Wang Y, Kennedy JJ, Voytovich UJ, Zhao L, Gaonkar KS, Ennis BM, Zhang B, Baubet V, Tauhid L, Lilly JV, Mason JL, Farrow B, Young N, Leary S, Moon J, Petyuk VA, Nazarian J, Adappa ND, Palmer JN, Lober RM, Rivero-Hinojosa S, Wang LB, Wang JM, Broberg M, Chu RK, Moore RJ, Monroe ME, Zhao R, Smith RD, Zhu J, Robles AI, Mesri M, Boja E, Hiltke T, Rodriguez H, Zhang B, Schadt EE, Mani DR, Ding L, Iavarone A, Wiznerowicz M, Schürer S, Chen XS, Heath AP, Rokita JL, Nesvizhskii AI, Fenyö D, Rodland KD, Liu T, Gygi SP, Paulovich AG, Resnick AC, Storm PB, Rood BR, Wang P; Children’s Brain Tumor Network; Clinical Proteomic Tumor Analysis Consortium. Petralia F, et al. Cell. 2020 Dec 23;183(7):1962-1985.e31. doi: 10.1016/j.cell.2020.10.044. Epub 2020 Nov 25. Cell. 2020. PMID: 33242424 Free PMC article.
We report a comprehensive proteogenomics analysis, including whole-genome sequencing, RNA sequencing, and proteomics and phosphoproteomics profiling, of 218 tumors across 7 histological types of childhood brain cancer: low-grade glioma (n = 93), ependymoma (32), high-grade glioma …
We report a comprehensive proteogenomics analysis, including whole-genome sequencing, RNA sequencing, and proteomics and phosphoproteomics p …
Recent updates in thoracic SMARCA4-deficient undifferentiated tumor.
Nambirajan A, Jain D. Nambirajan A, et al. Semin Diagn Pathol. 2021 Sep;38(5):83-89. doi: 10.1053/j.semdp.2021.06.001. Epub 2021 Jun 4. Semin Diagn Pathol. 2021. PMID: 34147303 Review.
Germline inactivating mutations in SMARCA4 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 4) gene encoding for BRG1 (Brahma related gene-1) are the molecular drivers in small cell carcinoma of ovary, hypercalcemic type (SCCOHT) an …
Germline inactivating mutations in SMARCA4 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member …
Normal and tumor-derived organoids as a drug screening platform for tumor-specific drug vulnerabilities.
Calandrini C, Drost J. Calandrini C, et al. STAR Protoc. 2022 Jan 10;3(1):101079. doi: 10.1016/j.xpro.2021.101079. eCollection 2022 Mar 18. STAR Protoc. 2022. PMID: 35036959 Free PMC article.
Patient-derived tumor organoids can be predictive of patient's treatment responses, and normal tissue-derived organoids allow for drug toxicity testing. ...Here, we provide a detailed protocol for organoid drug screening using, as proof-of-principle, patient-derived malign …
Patient-derived tumor organoids can be predictive of patient's treatment responses, and normal tissue-derived organoids allow for dru …
SWI/SNF complex-deficient soft tissue neoplasms: An update.
Schaefer IM, Hornick JL. Schaefer IM, et al. Semin Diagn Pathol. 2021 May;38(3):222-231. doi: 10.1053/j.semdp.2020.05.005. Epub 2020 Jun 5. Semin Diagn Pathol. 2021. PMID: 32646614 Free PMC article. Review.
SMARCB1 (INI1) is the subunit most frequently inactivated in soft tissue neoplasms. Specifically, SMARCB1 deficiency is observed as the genetic hallmark in virtually all malignant rhabdoid tumors, and most cases of epithelioid sarcoma and poorly differentiated chordoma. .. …
SMARCB1 (INI1) is the subunit most frequently inactivated in soft tissue neoplasms. Specifically, SMARCB1 deficiency is observed as t …
Tazemetostat for tumors harboring SMARCB1/SMARCA4 or EZH2 alterations: results from NCI-COG pediatric MATCH APEC1621C.
Chi SN, Yi JS, Williams PM, Roy-Chowdhuri S, Patton DR, Coffey BD, Reid JM, Piao J, Saguilig L, Alonzo TA, Berg SL, Ramirez NC, Jaju A, Mhlanga JC, Fox E, Hawkins DS, Mooney MM, Takebe N, Tricoli JV, Janeway KA, Seibel NL, Parsons DW. Chi SN, et al. J Natl Cancer Inst. 2023 Nov 8;115(11):1355-1363. doi: 10.1093/jnci/djad085. J Natl Cancer Inst. 2023. PMID: 37228094 Free PMC article.
RESULTS: Twenty patients (median age = 5 years) enrolled, all evaluable for response and toxicities. The most frequent diagnoses were atypical teratoid rhabdoid tumor (n = 8) and malignant rhabdoid tumor (n = 4). Actionable alterations consisted of SMA …
RESULTS: Twenty patients (median age = 5 years) enrolled, all evaluable for response and toxicities. The most frequent diagnoses were atypic …
Renal Medullary Carcinoma.
Elliott A, Bruner E. Elliott A, et al. Arch Pathol Lab Med. 2019 Dec;143(12):1556-1561. doi: 10.5858/arpa.2017-0492-RS. Epub 2019 Mar 11. Arch Pathol Lab Med. 2019. PMID: 30855171 Free article. Review.
Microscopically, a characteristic reticular or cribriform pattern with a striking desmoplastic stromal response and a robust mixed inflammatory infiltrate is observed. Collecting duct carcinoma, malignant rhabdoid tumor, urothelial carcinoma, and other subtyp …
Microscopically, a characteristic reticular or cribriform pattern with a striking desmoplastic stromal response and a robust mixed inflammat …
B7-H3 in Brain Malignancies: Immunology and Immunotherapy.
Guo X, Chang M, Wang Y, Xing B, Ma W. Guo X, et al. Int J Biol Sci. 2023 Jul 24;19(12):3762-3780. doi: 10.7150/ijbs.85813. eCollection 2023. Int J Biol Sci. 2023. PMID: 37564196 Free PMC article. Review.
Blocking B7-H3 and terminating its immunosuppressive function is expected to improve anti-tumor immune responses and, in turn, ameliorate the progression of tumors. Results from preclinical or observative studies and early-phase trials targeting B7-H3 have revealed promisi …
Blocking B7-H3 and terminating its immunosuppressive function is expected to improve anti-tumor immune responses and, in turn, ameliorate th …
SWI/SNF-deficient neoplasms of the genitourinary tract.
Sirohi D MD, Ohe C, Smith SC, Amin MB. Sirohi D MD, et al. Semin Diagn Pathol. 2021 May;38(3):212-221. doi: 10.1053/j.semdp.2021.03.007. Epub 2021 Apr 3. Semin Diagn Pathol. 2021. PMID: 33840529 Review.
While mutations of SWI/SNF complex are diagnostic of rhabdoid tumors and renal medullary carcinoma, their clinical relevance extends to potential prognostic and predictive utility in other tumors as well. Beyond SMARCB1, the PBRM1 and ARID1A genes are the most frequently a …
While mutations of SWI/SNF complex are diagnostic of rhabdoid tumors and renal medullary carcinoma, their clinical relevance extends to pote …
Hereditary SWI/SNF complex deficiency syndromes.
Agaimy A, Foulkes WD. Agaimy A, et al. Semin Diagn Pathol. 2018 May;35(3):193-198. doi: 10.1053/j.semdp.2018.01.002. Epub 2018 Feb 1. Semin Diagn Pathol. 2018. PMID: 29397238 Review.
Approximately one-third of pediatric malignant rhabdoid tumors are linked to germline SWI/SNF alterations (SMARCB1/INI1, rarely SMARCA4) resulting in occasional familial clustering of these highly aggressive malignancies (so-called rhabdoid tumor predisposition synd …
Approximately one-third of pediatric malignant rhabdoid tumors are linked to germline SWI/SNF alterations (SMARCB1/INI1, rarely SMARCA4) res …
Fetal and neonatal rhabdoid tumor.
Isaacs H Jr. Isaacs H Jr. J Pediatr Surg. 2010 Mar;45(3):619-26. doi: 10.1016/j.jpedsurg.2009.12.011. J Pediatr Surg. 2010. PMID: 20223330 Review.
PURPOSE: Few studies have focused on the behavior of rhabdoid tumor (RT) in the fetus and neonate. The purpose of this review is to show that perinatal RTs are associated with unusual findings and a poor prognosis. ...CONCLUSIONS: The review shows that extrarenal RT …
PURPOSE: Few studies have focused on the behavior of rhabdoid tumor (RT) in the fetus and neonate. The purpose of this review …
356 results