Small Cell Carcinoma of the Ovary (Hypercalcemic Type): Malignant Rhabdoid Tumor

Kaščák, Peter; Zámečnı́k, Michal; Bystricky, B.

doi:10.1159/000446694

Cited by 11 publications

(7 citation statements)

References 13 publications

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“…Small cell carcinoma of the ovary of hypercalcemic type (SCCOHT) is a very rare tumor usually found in young females [17]. Hypercalcemia is found in most cases, and is associated with a poor prognosis [127,128]. In almost all SCCOHT tumors, inactivating mutations leading to loss of BRG1/ SMARCA4 expression have been exclusively found [129], and mutations of this protein were observed in 91% of cases [125,126].…”

Section: Resultsmentioning

confidence: 99%

Intrinsic Disorder of the BAF Complex: Roles in Chromatin Remodeling and Disease Development

Hadidy

Uversky

2019

IJMS

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The two-meter-long DNA is compressed into chromatin in the nucleus of every cell, which serves as a significant barrier to transcription. Therefore, for processes such as replication and transcription to occur, the highly compacted chromatin must be relaxed, and the processes required for chromatin reorganization for the aim of replication or transcription are controlled by ATP-dependent nucleosome remodelers. One of the most highly studied remodelers of this kind is the BRG1- or BRM-associated factor complex (BAF complex, also known as SWItch/sucrose non-fermentable (SWI/SNF) complex), which is crucial for the regulation of gene expression and differentiation in eukaryotes. Chromatin remodeling complex BAF is characterized by a highly polymorphic structure, containing from four to 17 subunits encoded by 29 genes. The aim of this paper is to provide an overview of the role of BAF complex in chromatin remodeling and also to use literature mining and a set of computational and bioinformatics tools to analyze structural properties, intrinsic disorder predisposition, and functionalities of its subunits, along with the description of the relations of different BAF complex subunits to the pathogenesis of various human diseases.

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Section: Resultsmentioning

confidence: 99%

Intrinsic Disorder of the BAF Complex: Roles in Chromatin Remodeling and Disease Development

Hadidy

Uversky

2019

IJMS

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“…Ovarian cancers have been shown to be associated with HHM predominantly with clear cell subtype and small-cell carcinomas( Table 2 ) 9 . Clear cell carcinoma is characterized by the presence of clear cells, upon hematoxylin and eosin staining for rich cytoplasmic glycogen content, and high-grade nuclei with mitotic hyperactivity, which indicate the aggressive nature of this histological subtype.…”

Section: Discussionmentioning

confidence: 99%

Ovarian cancer presenting with hypercalcemia: two cases with similar manifestations but different mechanisms

Wang

Zhang

et al. 2018

Cancer Biology & Medicine

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Hypercalcemia presenting in ovarian cancer is uncommon in the clinic. Here, two cases of ovarian epithelial carcinoma that presented with severe hypercalcemia were reported, with a review of the literature. The laboratory findings and stepwise clinical investigations of these two cases differed, indicating distinct underlying causes of hypercalcemia. In case one, the serum levels and immunostaining for parathyroid hormone-related protein (PTHrP) verified humoral hypercalcemia of malignancy (HHM). In case two, the high level of parathyroid hormone (PTH) and the scintigraphy scan showing parathyroid gland adenoma confirmed primary hyperparathyroidism-induced hypercalcemia. Both patients received optimal cytoreductive operation and adjuvant chemotherapy but showed different outcomes respectively. This article focused on differential diagnosis of ovarian cancer-associated hypercalcemia, by stepwise imaging and laboratory investigation, and the appropriate therapy should be considered based on the different etiologies.

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“…In rare cases exhibiting rhabdoid cytomorphology, the tumor cells were very similar to malignant rhabdoid tumor(MRT) (14).Molecular genetic studies showed that small cell carcinoma (hypercalcemic type) contained alterations in genes SMARCB1 or SMARCA4 also observed in MRTs; therefore, some authors renamed it as 'MRT of the ovary' (15).…”

Section: Discussionmentioning

confidence: 99%

Ovarian Small Cell Carcinoma: A Rare Case Report and Review of Literature

et al. 2018

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Ovarian small cell carcinoma is a rare and highly malignant tumor with poor prognosis. It usually presents in younger females with features of hypercalcemia. The exact histogenesis of the tumor is unclear and it may present as an undifferentiated tumor. In such cases, immunohistochemistry (IHC) plays an important role to confirm the diagnosis. Limited treatment options are available and mainly include radical surgery followed by adjuvant therapy in advanced stages. The current report was a rare case of small cell carcinoma of ovary presenting no symptoms of hypercalcemia diagnosed on histopathological examination and IHC findings.

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Small Cell Carcinoma of the Ovary (Hypercalcemic Type): Malignant Rhabdoid Tumor

Cited by 11 publications

References 13 publications

Intrinsic Disorder of the BAF Complex: Roles in Chromatin Remodeling and Disease Development

Intrinsic Disorder of the BAF Complex: Roles in Chromatin Remodeling and Disease Development

Ovarian cancer presenting with hypercalcemia: two cases with similar manifestations but different mechanisms

Ovarian Small Cell Carcinoma: A Rare Case Report and Review of Literature

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