AI Article Synopsis
- Malignant rhabdoid tumor (MRT) is a rare and aggressive cancer in young children caused by a mutation in the SNF5 gene, especially in cases with multiple tumors known as synchronous MRT.
- The study aimed to create new cell lines to better understand the biological aspects of synchronous MRT, leading to the establishment of two novel MRT cell lines from a patient with multifocal tumors.
- Both cell lines exhibited typical MRT characteristics and shared a compound mutation in the SNF5 gene, with implications for future research on treatment resistance in synchronous MRT.
Article Abstract
Background/aim: Malignant rhabdoid tumor (MRT) is a rare, aggressive neoplasm found in young children, caused by inactivation of a single gene, SNF5 (INI1, SMARCB1). MRT cases with multifocal tumors at diagnosis are categorized as synchronous MRT, often with a germline mutation of SNF5. The aim of this study was to establish new models useful in clarifying the biological basis of synchronous MRT.
Materials And Methods: We established two novel MRT cell lines, designated as KP-MRT-KS and KP-MRT-KSa, derived from different lesions and at a different time from a synchronous multifocal 7-month-old female MRT patient.
Results: Both cells showed typical morphology of MRT, with a compound genomic mutation in exons 2 and 5 of the SNF5 gene. The exon 2 mutation was found in the germline.
Conclusion: These cell lines could serve as powerful tools for unveiling the molecular mechanism of refractory synchronous MRT.
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| http://dx.doi.org/10.21873/anticanres.14636 | DOI Listing |
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