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Article

Association of Li-Fraumeni Syndrome With Small Cell Carcinoma of the Ovary, Hypercalcemic Type and Concurrent Pleomorphic Liposarcoma of the Cervix.

International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists - 1 Nov 2017

Tandon Bevan, Hagemann Ian S, Maluf Horacio M, Pfeifer John D, Al-Kateb Hussam

Abstract excerpt

Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT), is a rare, highly lethal malignancy predominantly affecting young adult females. We report a patient with widely metastatic SCCOHT and concurrent uterine cervical pleomorphic liposarcoma. Clinical targeted next-generation sequencing was performed on both neoplasms and demonstrated hemizygous stop-gain TP53 mutations (p.R196*), and wild-type SMARCA4...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Proto-Oncogene Proteins c-myc

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Source

Identifiers

PMID: 28177947
DOI: 10.1097/PGP.0000000000000365

Genes

SMARCA4
FGFR1
MYC
SMARCA2
SMARCB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Association of Li-Fraumeni Syndrome With Small Cell Carcinoma of the Ovary, Hypercalcemic Type and Concurrent Pleomorphic Liposarcoma of the Cervix.PMID 28177947Read ↗

Concomitant loss of SMARCA2 and SMARCA4 expression in small cell carcinoma of the ovary, hypercalcemic type.Semantic proximity Read ↗

Small Cell Carcinoma of the Ovary, Hypercalcemic Type (SCCOHT) beyond SMARCA4 Mutations: A Comprehensive Genomic Analysis.Semantic proximity Read ↗

Small-Cell Carcinoma of the Ovary, Hypercalcemic Type-Genetics, New Treatment Targets, and Current Management Guidelines.Semantic proximity Read ↗

No small surprise - small cell carcinoma of the ovary, hypercalcaemic type, is a malignant rhabdoid tumour.Semantic proximity Read ↗

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

Biallelic somatic SMARCA4 mutations in small cell carcinoma of the ovary, hypercalcemic type (SCCOHT).Semantic proximity Read ↗

Identification of Driver Mutations in Rare Cancers: The Role of SMARCA4 in Small Cell Carcinoma of the Ovary, Hypercalcemic Type (SCCOHT).Semantic proximity Read ↗

Single-cell RNA sequencing reveals the intra-tumoral heterogeneity and immune microenvironment of small cell carcinoma of the ovary, hypercalcemic typeSemantic proximity Read ↗

Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4.Semantic proximity Read ↗

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Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type.Semantic proximity Read ↗

SMARCA4-Deficient Carcinoma of Uterine Cervix Resembling SCCOHT-Case Report.Semantic proximity Read ↗

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