Ovarian carcinoma in children with constitutional mutation of SMARCA4: single-family report and literature review

Pastorczak, Agata; Krajewska, Karolina; Urbanska, Zuzanna; Szmyd, Bartosz; Sałacińska-Łoś, Elżbieta; Kobos, Józef; Młynarski, Wojciech; Trelińska, Joanna

doi:10.1007/s10689-021-00258-w

Cited by 9 publications

(9 citation statements)

References 23 publications

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“…Some patients may present with acute abdomen, caused by adnexal/ovarian torsion. Girls affected by SCCOHT may present a mutation in the SMARCA4 gene: in these cases, a genetic testing should always be performed [ 3 , 4 , 12 – 14 ].…”

Section: Discussionmentioning

confidence: 99%

International Society of Paediatric Surgical Oncology (IPSO) Surgical Practice Guidelines

Abib¹,

Chui²,

Cox³

et al. 2022

ecancer

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Most children with tumors will require one or more surgical interventions as part of the care and treatment, including making a diagnosis, obtaining adequate venous access, performing a surgical resection for solid tumors (with staging and reconstruction), performing procedures for cancer prevention and its late effects, and managing complications of treatment; all with the goal of improving survival and quality of life. It is important for surgeons to adhere to sound pediatric surgical oncology principles, as they are closely associated with improved local control and survival. Unfortunately, there is a significant disparity in survival rates in low and middle income countries, when compared to those from high income countries.The International Society of Paediatric Surgical Oncology (IPSO) is the leading organization that deals with pediatric surgical oncology worldwide. This organization allows experts in the field from around the globe to gather and address the surgical needs of children with cancer. IPSO has been invited to contribute surgical guidance as part of the World Health Organization Initiative for Childhood Cancer. One of our goals is to provide surgical guidance for different scenarios, including those experienced in High-(HICs) and Low-and Middle-Income Countries (LMICs). With this in mind, the following guidelines have been developed by authors from both HICs and LMICs. These have been further validated by experts with the aim of providing evidence-based information for surgeons who care for children with cancer.We hope that this initiative will benefit children worldwide in the best way possible.

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Section: Discussionmentioning

confidence: 99%

International Society of Paediatric Surgical Oncology (IPSO) Surgical Practice Guidelines

Abib¹,

Chui²,

Cox³

et al. 2022

ecancer

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“…Therefore, germline pathogenic variants in SMARCA4 have been reported to be related to the predisposition of several types of cancers, namely Small Cell Carcinoma of the Ovary, Hypercalcemic Type (SCCOHT), early onset Ovarian Cancer (OC), neuroblastoma, and rhabdoid tumor predisposition syndrome [ 34 , 35 , 36 ]. Germline mutations at SMARCA4 that cause a truncated protein are reported to be the key genetic event because a decrease in functional BRG1 protein is expected and has often been related to such cancer pathologies as SMARCA4-deficient Non-Small-Cell-Lung Cancer (NSCLC) and rhabdoid tumor predisposition syndrome [ 35 , 37 , 38 , 39 ].…”

Section: Resultsmentioning

confidence: 99%

A Novel DNA Variant in SMARCA4 Gene Found in a Patient Affected by Early Onset Colon Cancer

Di Maggio,

Boccia,

Nunziato

et al. 2024

IJMS

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Colorectal cancer is the third leading cause of death from neoplasia worldwide. Thanks to new screening programs, we are now seeing an increase in Early Onset of ColoRectal Cancer (EOCRC) in patients below the age of 50. Herein, we report a clinical case of a woman affected by EOCRC. This case illustrates the importance of genetic predisposition testing also in tumor patients. Indeed, for our patient, we used a combined approach of multiple molecular and cellular biology technologies that revealed the presence of an interesting novel variant in the SMARCA4 gene. The latter gene is implicated in damage repair processes and related, if mutated, to the onset of various tumor types. In addition, we stabilized Patient-Derived Organoids from the tumor tissue of the same patient and the result confirmed the presence of this novel pathogenic variant that has never been found before even in early onset cancer. In conclusion, with this clinical case, we want to underscore the importance of including patients even those below the age of 50 years in appropriate screening programs which should also include genetic tests for predisposition to early onset cancers.

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“…For the second gene ( SMARCA4 ), we found no previous associations with sorafenib efficacy in the literature. However, molecular function of this gene product is ATP-dependent chromatin remodeling and overall transcriptional activation, and SMARCA4 mutations are linked with many cancers ( Fountzilas et al, 2021 ; Nambirajan and Jain, 2021 ; Pastorczak et al, 2021 ).…”

Section: Resultsmentioning

confidence: 99%

Gene Expression-Based Signature Can Predict Sorafenib Response in Kidney Cancer

Gudkov

Shirokorad

Kashintsev

et al. 2022

Front. Mol. Biosci.

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Sorafenib is a tyrosine kinase inhibitory drug with multiple molecular specificities that is approved for clinical use in second-line treatments of metastatic and advanced renal cell carcinomas (RCCs). However, only 10–40% of RCC patients respond on sorafenib-containing therapies, and personalization of its prescription may help in finding an adequate balance of clinical efficiency, cost-effectiveness, and side effects. We investigated whether expression levels of known molecular targets of sorafenib in RCC can serve as prognostic biomarker of treatment response. We used Illumina microarrays to profile RNA expression in pre-treatment formalin-fixed paraffin-embedded (FFPE) samples of 22 metastatic or advanced RCC cases with known responses on next-line sorafenib monotherapy. Among them, nine patients showed partial response (PR), three patients—stable disease (SD), and 10 patients—progressive disease (PD) according to Response Evaluation Criteria In Solid Tumors (RECIST) criteria. We then classified PR + SD patients as “responders” and PD patients as “poor responders”. We found that gene signature including eight sorafenib target genes was congruent with the drug response characteristics and enabled high-quality separation of the responders and poor responders [area under a receiver operating characteristic curve (AUC) 0.89]. We validated these findings on another set of 13 experimental annotated FFPE RCC samples (for 2 PR, 1 SD, and 10 PD patients) that were profiled by RNA sequencing and observed AUC 0.97 for 8-gene signature as the response classifier. We further validated these results in a series of qRT-PCR experiments on the third experimental set of 12 annotated RCC biosamples (for 4 PR, 3 SD, and 5 PD patients), where 8-gene signature showed AUC 0.83.

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Ovarian carcinoma in children with constitutional mutation of SMARCA4: single-family report and literature review

Cited by 9 publications

References 23 publications

International Society of Paediatric Surgical Oncology (IPSO) Surgical Practice Guidelines

International Society of Paediatric Surgical Oncology (IPSO) Surgical Practice Guidelines

A Novel DNA Variant in SMARCA4 Gene Found in a Patient Affected by Early Onset Colon Cancer

Gene Expression-Based Signature Can Predict Sorafenib Response in Kidney Cancer

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