دورية أكاديمية
The first report of molecular characterized BRD4-NUT carcinoma in Brazil: a case report.
| العنوان: | The first report of molecular characterized BRD4-NUT carcinoma in Brazil: a case report. |
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| المؤلفون: | Oliveira LJC; Centro de Oncologia, Hospital Sírio Libanês, Rua Dona Adma Jafet, 91. 2nd floor. Building A, São Paulo, 01308-050, Brazil. leandrojco1986@gmail.com., Gongora ABL; Centro de Oncologia, Hospital Sírio Libanês, Rua Dona Adma Jafet, 91. 2nd floor. Building A, São Paulo, 01308-050, Brazil., Latancia MT; Instituto de Ensino e Pesquisa, Hospital Sírio Libanês, São Paulo, Brazil., Barbosa FG; Serviço de Medicina Nuclear, Hospital Sírio Libanês, São Paulo, Brazil., Gregorio JVAM; Centro de Oncologia, Hospital Sírio Libanês, Rua Dona Adma Jafet, 91. 2nd floor. Building A, São Paulo, 01308-050, Brazil.; Serviço de Oncologia, Instituto do Câncer do Estado de São Paulo, Universidade de São Paulo, São Paulo, Brazil., Testagrossa LA; Serviço de Anatomia Patológica, Hospital Sírio Libanês, São Paulo, Brazil., Amano MT; Instituto de Ensino e Pesquisa, Hospital Sírio Libanês, São Paulo, Brazil., Feher O; Centro de Oncologia, Hospital Sírio Libanês, Rua Dona Adma Jafet, 91. 2nd floor. Building A, São Paulo, 01308-050, Brazil.; Serviço de Oncologia, Instituto do Câncer do Estado de São Paulo, Universidade de São Paulo, São Paulo, Brazil. |
| المصدر: | Journal of medical case reports [J Med Case Rep] 2019 Sep 07; Vol. 13 (1), pp. 279. Date of Electronic Publication: 2019 Sep 07. |
| نوع المنشور: | Case Reports; Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: BioMed Central Country of Publication: England NLM ID: 101293382 Publication Model: Electronic Cited Medium: Internet ISSN: 1752-1947 (Electronic) Linking ISSN: 17521947 NLM ISO Abbreviation: J Med Case Rep Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: [London] : BioMed Central, [2007- |
| مواضيع طبية MeSH: | Carcinoma, Squamous Cell/*genetics , Carcinoma, Squamous Cell/*pathology , Nuclear Proteins/*genetics , Oncogene Proteins, Fusion/*genetics, Adult ; Bone Neoplasms/diagnostic imaging ; Bone Neoplasms/genetics ; Bone Neoplasms/secondary ; Brazil ; Fatal Outcome ; High-Throughput Nucleotide Sequencing ; Humans ; Lung Neoplasms/diagnostic imaging ; Lung Neoplasms/genetics ; Lung Neoplasms/secondary ; Male ; Maxillary Sinus Neoplasms/diagnostic imaging ; Maxillary Sinus Neoplasms/genetics ; Maxillary Sinus Neoplasms/pathology ; Positron Emission Tomography Computed Tomography |
| مستخلص: | Background: NUT midline carcinoma is a rare and aggressive subset of squamous cell carcinoma, which is characterized by the translocation of nuclear protein in testis gene that is mostly fused with bromodomain and extraterminal family proteins. We describe here the first Brazilian case of NUT midline carcinoma with BRD4-NUT fusion detected in a next-generation sequencing panel and we present the clinical evolution of this patient. Case Presentation: A 42-year-old Caucasian man was diagnosed with poorly differentiated squamous cell carcinoma of the left maxillary sinus, with negative in situ hybridization for Epstein-Barr encoding region and human papillomavirus genotyping. He received induction therapy, chemoradiotherapy with weekly systemic chemotherapy, and, concurrently, weekly intra-arterial chemotherapy. New imaging evaluation, 1 month after the end of the last treatment, revealed a good partial response in the primary lesion. However, positron emission tomography-computed tomography showed multiple suspicious lesions in his bones and lungs, which were histologically confirmed. He died exactly 2 months after metastatic disease was diagnosed. Conclusions: NUT midline carcinoma is usually very aggressive. Currently, there is no standard of care for treatment of NUT midline carcinoma. The definitive diagnosis must be by demonstration of NUTM1 rearrangement. Immunohistochemical staining of greater than 50% of tumor nuclei on formalin-fixed paraffin-embedded tissue using the monoclonal rabbit antibody to NUT (clone C52B1), has a specificity of 100%, and sensitivity of 87% for the diagnosis of NUT midline carcinoma. Our case is the first Brazilian case of NUT midline carcinoma with BRD4-NUT fusion. |
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| فهرسة مساهمة: | Keywords: Molecular pathology; NUT midline carcinoma; Poorly differentiated squamous cell carcinoma; Targeted therapy |
| المشرفين على المادة: | 0 (BRD4-NUT fusion oncogene protein, human) 0 (Nuclear Proteins) 0 (Oncogene Proteins, Fusion) |
| تواريخ الأحداث: | Date Created: 20190908 Date Completed: 20200205 Latest Revision: 20200225 |
| رمز التحديث: | 20231215 |
| مُعرف محوري في PubMed: | PMC6731562 |
| DOI: | 10.1186/s13256-019-2213-6 |
| PMID: | 31492174 |
| قاعدة البيانات: | MEDLINE |
Find this article in full text from Springer Verlag. 
Full Text Finder | تدمد: | 1752-1947 |
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| DOI: | 10.1186/s13256-019-2213-6 |