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1.
Mod Pathol ; 35(9): 1247-1253, 2022 09.
Artículo en Inglés | MEDLINE | ID: mdl-35351978

RESUMEN

We compared clinicopathologic and molecular features of esophageal squamous cell carcinoma (SCC) with basaloid features to conventional SCC using surgical resections of treatment naïve esophageal carcinomas and cases available from the TCGA database. Twenty-two cases of SCC with basaloid features were identified in the Mass General Brigham pathology archives, including 9 cases with pure basaloid morphology and 13 cases with mixed other features such as conventional well- or poorly differentiated areas or sarcomatoid areas. Thirty-eight cases of conventional SCC matched by tumor stage were used as controls. HPV infection status was tested by p16 immunohistochemistry and HPV mRNA ISH. Digital slides for 94 cases of esophageal SCC from TCGA found in the Genomic Data Commons (GDC) Data Portal were reviewed. Five cases of SCC with basaloid features were identified. Genomic profiles of SCC with basaloid features were compared to the rest of 89 SCCs without basaloid features. In addition, eight tumor sections from six patients selected from our cohort underwent in-house molecular profiling. Compared to conventional SCC, SCC with basaloid features were more frequently associated with diffuse or multifocal squamous dysplasia (p < 0.001). P16 IHC was positive in 2/13 cases, whereas HPV mRNA ISH was negative in 17/17 cases (including both p16-positive cases). SCC with basaloid features and conventional SCC from TCGA showed similar rates of TP53 mutations, CDKN2A/B deletions, and CCDN1 amplifications. TP53 variants were identified in all in-house samples that had sufficient coverage. Survival analyses between SCC with basaloid features versus conventional SCC (matched for tumor stage) did not reveal any statistically significant differences. In conclusion, esophageal SCC with basaloid features has similar survival and genomic alterations to those of conventional SCC, are more frequently associated with diffuse or multifocal dysplasia, and are not associated with HPV (high-risk strains) infection.


Asunto(s)
Carcinoma de Células Escamosas , Neoplasias Esofágicas , Carcinoma de Células Escamosas de Esófago , Infecciones por Papillomavirus , Biomarcadores de Tumor/análisis , Biomarcadores de Tumor/genética , Carcinoma de Células Escamosas/patología , Neoplasias Esofágicas/genética , Neoplasias Esofágicas/patología , Carcinoma de Células Escamosas de Esófago/genética , Humanos , ARN Mensajero
2.
Int J Gynecol Pathol ; 41(6): 615-621, 2022 Nov 01.
Artículo en Inglés | MEDLINE | ID: mdl-34954707

RESUMEN

Teratomas are the most common neoplasm of the ovary, comprising over half of all diagnosed tumors in patients under 50. Most lesions are classified as benign mature teratomas and are histologically defined by the presence of mature tissues from one or more of the embryological germ layers: ectoderm, mesoderm, and endoderm. Neuroectodermal derivatives, including glia, neurons, ependymal cells, and meninges are present in a third to half of mature teratomas. Although teratomatous tissue elements are typically arranged in a haphazard fashion, well-developed and organized embryonic organ structures have been rarely reported and often with limited histologic, clinical, or gross characterization. In this report, we describe the case of an ovarian mature cystic teratoma identified in a pregnant female which exhibited remarkably well-developed posterior fossa structures including lobated and foliated cerebellum with appropriate anatomic organization and associated brainstem, ventricular, and meningeal structures.


Asunto(s)
Quiste Dermoide , Neoplasias Ováricas , Teratoma , Humanos , Femenino , Embarazo , Teratoma/patología , Neoplasias Ováricas/patología , Cerebelo/patología
3.
Skeletal Radiol ; 51(12): 2341-2346, 2022 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-35711075

RESUMEN

Chondroblastomas characteristically occur in skeletally immature patients, and arise within the medullary canal of the epiphysis. We report a rare case of an intracortical chondroblastoma arising in the diaphysis, and occurring in an adult in his 3rd decade of life. Immunohistochemistry results were critical to confirmation of this rare diagnosis, with immunohistochemistry showing S100, DOG1, and H3K36me3 positivity in the neoplastic cells.


Asunto(s)
Neoplasias Óseas , Condroblastoma , Adulto , Neoplasias Óseas/diagnóstico por imagen , Neoplasias Óseas/cirugía , Condroblastoma/diagnóstico por imagen , Condroblastoma/cirugía , Diáfisis , Humanos , Inmunohistoquímica
5.
Genes (Basel) ; 12(9)2021 08 24.
Artículo en Inglés | MEDLINE | ID: mdl-34573282

RESUMEN

SALL4 is a zinc finger transcription factor that belongs to the spalt-like (SALL) gene family. It plays important roles in the maintenance of self-renewal and pluripotency of embryonic stem cells, and its expression is repressed in most adult organs. SALL4 re-expression has been observed in different types of human cancers, and dysregulation of SALL4 contributes to the pathogenesis, metastasis, and even drug resistance of multiple cancer types. Surprisingly, little is known regarding how SALL4 expression is controlled, but recently microRNAs (miRNAs) have emerged as important regulators of SALL4. Due to the ability of regulating targets differentially in specific tissues, and recent advances in systemic and organ specific miRNA delivery mechanisms, miRNAs have emerged as promising therapeutic targets for cancer treatment. In this review, we summarize current knowledge of the interaction between SALL4 and miRNAs in mammalian development and cancer, paying particular attention to the emerging roles of the Let-7/Lin28 axis. In addition, we discuss the therapeutic prospects of targeting SALL4 using miRNA-based strategies, with a focus on the Let-7/LIN28 axis.


Asunto(s)
Carcinoma Hepatocelular/genética , Carcinoma de Pulmón de Células no Pequeñas/genética , Neoplasias Hepáticas/genética , Neoplasias Pulmonares/genética , MicroARNs/metabolismo , Factores de Transcripción/genética , Animales , Carcinoma Hepatocelular/metabolismo , Carcinoma de Pulmón de Células no Pequeñas/metabolismo , Regulación del Desarrollo de la Expresión Génica , Regulación Neoplásica de la Expresión Génica , Humanos , Neoplasias Hepáticas/metabolismo , Neoplasias Pulmonares/metabolismo , MicroARNs/genética , Factores de Transcripción/metabolismo
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