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Title[redir]:
The American Journal of Surgical Pathology
Description:
We here report the case of a supratentorial AT/RT in a 9-month-old boy, which showed retained SMARCB1 staining on immunohistochemistry and lacked genetic alterations of SMARCB1. Instead, the tumor showed loss of protein expression of another SWI/SNF chromatin-remodeling complex member, the ATPase subunit SMARCA4 (BRG1) due to a homozygous SMARCA4 mutation [c.2032C>T (p.Q678X)]. Our findings highlight the role of SMARCA4 in the pathogenesis of SMARCB1-positive AT/RT and the usefulness of antibodies directed against SMARCA4 in this diagnostic setting....
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Keywords {π}
journal, smarca, issue, smarcb, access, subscribe, alerts, authors, abstract, tumor, phd, log, register, logo, articles, issues, case, mutation, inactivation, brg, atypical, teratoidrhabdoid, retained, ini, expression, pathology, buy, tumors, cases, member, swisnf, chromatinremodeling, complex, atrt, showed, text, subscribers, request, article, carcinoma, clinicopathologic, browse, content, submit, service, privacy, policy, secondary, advanced, search,
Topics {βοΈ}
read mucin-rich variant tumor showed loss journal authors submit full text access salivary duct carcinoma lacked genetic alterations artificial intelligence training cellular endocrine pathology etoc alerts atpase subunit smarca4 service request 800-638-3030 register subscribe cases show inactivation individual subscribers log american journal journal tables core member issue smarcb1-positive website subscribe journal surgical pathology 35 center submit expression hasselblatt martin md stefan mdβ sabrina mdβ₯ elisabetta mdΒΆ felice mdβ― caterina md reinhard md reiner mdβ adenosine triphosphate protein expression findings highlight antibodies directed diagnostic setting email inbox rights reserved data mining clinicopathologic study smarcb1 case authors content log inactivation mdβ‘β‘ md subscribers
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