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Published on: September 13, 2019
Deciphering the Genomic Landscape and Pharmacological Profile of Uncommon Entities of Adult Rhabdomyosarcomas
Alessandro De Vita1, Silvia Vanni1, Valentina Fausti1
1Osteoncology and Rare Tumors Center, IRCCS Istituto Romagnolo per lo Studio dei Tumori (IRST) "Dino Amadori", 47014 Meldola, Italy.
Abstract:
Adult rhabdomyosarcoma (RMS) represents an uncommon entity with an incidence of less than 3% of all soft tissue sarcomas (STS). Consequently, the natural history and the clinical management of this disease are infrequently reported. In order to fill this gap, we investigated the molecular biology of an adult RMS case series. The expression of epithelial mesenchymal transition-related gene and chemoresistance-related gene panels were evaluated. Moreover, taking advantage of our STS translational model combining patient-derived primary culture and 3D-scaffold, the pharmacological profile of an adult head and neck sclerosing RMS was assessed. Furthermore, NGS, microsatellite instability, and in silico analyses were carried out. RT-PCR identified the upregulation of CDH1, SLUG, MMP9, RAB22a, S100P, and LAPTM4b, representing promising biomarkers for this disease. Pharmacological profiling showed the highest sensitivity with anthracycline-based regimen in both 2D and 3D culture systems. NGS analysis detected RAB3IP-HMGA2 in frame gene rearrangement and FGFR4 mutation; microsatellite instability analysis did not detect any alteration. In silico analysis confirmed the mutation of FGFR4 as a promising marker for poor prognosis and a potential therapeutic target. We report for the first time the molecular and pharmacological characterization of rare entities of adult head and neck and posterior trunk RMS. These preliminary data could shed light on this poorly understood disease.
Insights
This study characterizes adult rhabdomyosarcoma (RMS), revealing potential biomarkers like CDH1 and FGFR4 mutations. Anthracycline-based regimens show promise for treating this rare soft tissue sarcoma.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Adult rhabdomyosarcoma (RMS) is a rare soft tissue sarcoma (STS), accounting for less than 3% of cases.
- Limited data exist on the natural history and clinical management of adult RMS.
- Understanding the molecular and pharmacological profiles is crucial for improving patient outcomes.
Purpose of the Study:
- To investigate the molecular biology of adult RMS.
- To evaluate gene expression related to epithelial-mesenchymal transition and chemoresistance.
- To assess the pharmacological profile and identify potential therapeutic targets.
Main Methods:
- RT-PCR to analyze gene expression panels.
- Patient-derived primary culture and 3D-scaffold models for pharmacological profiling.
- Next-generation sequencing (NGS), microsatellite instability analysis, and in silico analysis.
Main Results:
- Upregulation of CDH1, SLUG, MMP9, RAB22a, S100P, and LAPTM4b identified as potential biomarkers.
- Highest sensitivity observed with anthracycline-based regimens in 2D and 3D cultures.
- NGS detected RAB3IP-HMGA2 in-frame gene rearrangement and FGFR4 mutation; FGFR4 mutation linked to poor prognosis.
Conclusions:
- This study provides the first molecular and pharmacological characterization of rare adult head and neck and posterior trunk RMS.
- Identified gene expression patterns and FGFR4 mutations may serve as valuable biomarkers and therapeutic targets.
- Preliminary findings offer insights into this understudied disease, guiding future research and treatment strategies.
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