An In-Depth Look at Small Cell Carcinoma of the Ovary, Hypercalcemic Type (SCCOHT): Clinical Implications from Recent Molecular Findings

Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is a highly aggressive cancer in young women. The histogenesis remains unclear although a potential origin of germ cells has been suggested recently. The high throughput next generation sequencing techniques have facilitated the identification of inactivating SMARCA4 mutations as the driver of SCCOHT. These findings may greatly impact on the prevention, diagnosis, molecular classification and treatment of SCCOHTs. The SMARCA4 mutations, typically associated with dual loss of BRG1 and BRM expression, are highly sensitive and specific for the diagnosis of SCCOHT. Germline mutations of SMARCA4 support familial SCCOHT with a critical requirement of genetic counseling and possible prophylactic surgery for carriers. SCCOHT, malignant atypical teratoid/rhabdoid tumors, thoracic sarcomas and some undifferentiated carcinomas harbor rhabdoid morphology and mutations in the SMARC genes, generating an emerging molecular classification of SMARC-mutated tumors. A multi-modality treatment approach consisting of surgery and high dose multi-agent chemotherapy in atypical teratoid/rhabdoid tumors may have potential benefits for SCCOHT patients. Preliminary studies have implicated that the inhibitors targeting EZH2 and the receptor tyrosine kinase, and anti-PD-L1 immunotherapy might be potentially effective for SCCOHT patients. These recent advances on molecular genetics, diagnosis and treatment of SCCOHT address the necessity of mu...
Source: Journal of Cancer - Category: Cancer & Oncology Authors: Tags: Review Source Type: research

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CONCLUSION: Optimized post-contrast enhanced PET/CT was highly effective in characterizing many solid tumors and has been instrumental in shaping patient care.
Source: Journal of Nuclear Medicine - Category: Nuclear Medicine Authors: Tags: Pediatrics Posters Source Type: research
by Felix Oppel, Ting Tao, Hui Shi, Kenneth N. Ross, Mark W. Zimmerman, Shuning He, Guangxiang Tong, Jon C. Aster, A. Thomas Look The SWI/SNF-family chromatin remodeling protein ATRX is a tumor suppressor in sarcomas, gliomas and other malignancies. Its loss of function facilitates the alternative lengthening of telomeres (ALT) pathway in tumor cells, while it also affects Polycomb repressive complex 2 (PRC2) silencing of it s target genes. To further define the role of inactivatingATRX mutations in carcinogenesis, we knocked outatrx in our previously reportedp53/nf1-deficient zebrafish line that develops malignant periphe...
Source: PLoS Genetics - Category: Genetics & Stem Cells Authors: Source Type: research
SMARCA4 is one of the core catalytic subunits of the SWI/SNF complex and its inactivation has been reported in several aggressive tumors with high-grade undifferentiated rhabdoid morphology including small cell carcinoma of the ovary, hypercalcemic type (SCCOHT).1 Recent genetic analysis revealed a group of undifferentiated thoracic malignancies with SMARCA4 inactivation presenting as compressive tumors often involving the mediastinum, with or without lung involvement, and occurring in relatively young patients and displaying aggressive behavior with poor prognosis.
Source: Lung Cancer - Category: Cancer & Oncology Authors: Source Type: research
Contributors : Felix Oppel ; A T Look ; Kenneth N RossSeries Type : Expression profiling by high throughput sequencingOrganism : Danio rerioThe SWI/SNF-family chromatin remodeling protein ATRX is a tumor suppressor in sarcomas, gliomas and other malignancies. Its loss of function facilitates the alternative lengthening of telomeres (ALT) pathway in tumor cells, while it also affects Polycomb repressive complex 2 (PRC2) silencing of its target genes. To further define the role of inactivating ATRX mutations in carcinogenesis, we knocked out atrx in our previously published p53/nf1-deficient zebrafish line that develops mali...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Danio rerio Source Type: research
Publication date: Available online 14 December 2018Source: European Journal of RadiologyAuthor(s): Dominik Deniffel, Andreas Sauter, Julia Dangelmaier, Alexander Fingerle, Ernst J. Rummeny, Daniela PfeifferABSTRACTIntroductionTo investigate the utility of quantitative dual-energy spectral CT derived iodine concentration (IC), in comparison with conventional CT attenuation, for the differentiation of pulmonary metastases from different primary malignancies.Materials and MethodsCT scans were performed on a dual-layer spectral CT. We retrospectively evaluated pulmonary metastases of 130 patients (77 men and 53 women, mean age...
Source: European Journal of Radiology - Category: Radiology Source Type: research
We report a 57-year-old Japanese male with esophageal carcinosarcoma with histopathological diversities. The patient complained of dysphagia. Endoscopy of the upper gastrointestinal tract revealed a mass in the lower esophagus just above the esophagogastric junction. Pathological diagnosis of the biopsy was poorly differentiated squamous cell carcinoma/undifferentiated carcinoma. Preoperative chemotherapy was performed with poor response. Post-operative analyses revealed that the chest CT showed the appearance of mineralization after neoadjuvant chemotherapy. Surgery revealed a mass in the lower esophagus invading the esop...
Source: Human Pathology: Case Reports - Category: Pathology Source Type: research
Pathology International, EarlyView.
Source: Pathology International - Category: Pathology Authors: Source Type: research
Abstract There have been several updates recently on the classification of uterine tumors. Endometrial carcinomas have traditionally been divided into 2 types, but some are difficult to classify and do not fit readily into either of the currently recognized categories. The Cancer Genome Atlas Research Network has recently defined 4 new categories of endometrial cancer on the basis of mutational spectra, copy number alteration, and microsatellite instability, which might provide independent prognostic information beyond established risk factors. The Society of Gynecologic Oncology, moreover, now recommends systemat...
Source: Archives of Pathology and Laboratory Medicine - Category: Laboratory Medicine Authors: Tags: Arch Pathol Lab Med Source Type: research
In conclusion, liver transplantation is an important optio n for hepatobiliary malignancies; however, prospective studies are urgently needed to ensure the appropriate patient selection, organ allocation and living donation policies, and administration of antineoplastic immunosuppression.
Source: Surgery Today - Category: Surgery Source Type: research
Conclusion Clinicians should be aware of the coexistence of uterine malignancies and uterine anomalies in patients presenting with persistent abnormal uterine bleeding, but with negative endometrial biopsy or failed in the operation of endometrial biopsy. In such cases, magnetic resonance imaging has an important role in the diagnosis of both malformation and malignancy, and an exploratory laparotomy should be performed to avoid delaying the diagnosis and treatment of cancers. PMID: 28118070 [PubMed - as supplied by publisher]
Source: Cancer Biology and Therapy - Category: Cancer & Oncology Authors: Tags: Cancer Biol Ther Source Type: research
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