Next generation sequencing in a cohort of patients with rare sarcoma histotypes: A single institution experience

Tirrò, Elena; Martorana, Federica; Micale, Giovanni; Inzerilli, Nicola; Carciotto, Rosaria; Romano, Chiara; Longhitano, Claudio; Motta, Gianmarco; Lanzafame, Katia; Stella, Stefania; Massimino, Michele; Vitale, Silvia Rita; Salvatorelli, Lucia; Magro, Gaetano; Manzella, Livia; Vigneri, Paolo

doi:10.1016/j.prp.2022.153820

Cited by 5 publications

(3 citation statements)

References 50 publications

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“…Despite the diversity in histotypes, age at presentation, risk of recurrence and prognosis, the most frequently altered genes in sarcomas precisely include genes involved in cell cycle regulation, namely TP53, CDKN2A, RB (44)(45)(46). Surprisingly, the only gene whose alterations were associated with worse overall survival across all types of STS was CDKN2A (39).…”

Section: Actionable Targets In Cdk Signaling Across Different Sarcoma...mentioning

confidence: 99%

Targeting cyclin-dependent kinases in sarcoma treatment: Current perspectives and future directions

et al. 2023

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Effective treatment of advanced/metastatic bone and soft tissue sarcomas still represents an unmet medical need. Recent advances in targeted therapies have highlighted the potential of cyclin-dependent kinases (CDK) inhibitors in several cancer types, including sarcomas. CDKs are master regulators of the cell cycle; their dysregulation is listed among the “hallmarks of cancer” and sarcomas are no exception to the rule. In this review, we report both the molecular basis, and the potential therapeutic implications for the use of CDK inhibitors in sarcoma treatment. What is more, we describe and discuss the possibility and biological rationale for combination therapies with conventional treatments, target therapy and immunotherapy, highlighting potential avenues for future research to integrate CDK inhibition in sarcoma treatment.

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Section: Actionable Targets In Cdk Signaling Across Different Sarcoma...mentioning

confidence: 99%

Targeting cyclin-dependent kinases in sarcoma treatment: Current perspectives and future directions

et al. 2023

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“…In the era of personalized medicine, tumor molecular profiling is critical to define the peculiar features of each cancer type [177][178][179]. Cell-to-cell diversity plays a crucial role in the natural history of each malignancy, eventually influencing patient outcome.…”

Section: Summary and Future Outlookmentioning

confidence: 99%

Single-Cell Analysis in the Omics Era: Technologies and Applications in Cancer

Massimino

Martorana

Stella

et al. 2023

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Cancer molecular profiling obtained with conventional bulk sequencing describes average alterations obtained from the entire cellular population analyzed. In the era of precision medicine, this approach is unable to track tumor heterogeneity and cannot be exploited to unravel the biological processes behind clonal evolution. In the last few years, functional single-cell omics has improved our understanding of cancer heterogeneity. This approach requires isolation and identification of single cells starting from an entire population. A cell suspension obtained by tumor tissue dissociation or hematological material can be manipulated using different techniques to separate individual cells, employed for single-cell downstream analysis. Single-cell data can then be used to analyze cell–cell diversity, thus mapping evolving cancer biological processes. Despite its unquestionable advantages, single-cell analysis produces massive amounts of data with several potential biases, stemming from cell manipulation and pre-amplification steps. To overcome these limitations, several bioinformatic approaches have been developed and explored. In this work, we provide an overview of this entire process while discussing the most recent advances in the field of functional omics at single-cell resolution.

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“…Next generation sequencing (NGS) identifies these genetic hallmarks often contributing to the correct diagnosis [ 7 , 8 ].…”

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confidence: 99%

Giant Paratesticular Liposarcoma: Molecular Characterization and Management Principles with a Review of the Literature

et al. 2022

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Paratesticular liposarcomas are extremely rare malignant tumors originating from fat tissues, with an often-challenging diagnosis. We present here the case of a 76-year-old man with a giant paratesticular liposarcoma, initially misdiagnosed as a scrotal hernia. After two years, the progressively enlarging mass underwent surgical resection, and a diagnosis of well-differentiated liposarcoma (lipoma-like subtype) was made. Post-operative treatments were not indicated, and the patient remains relapse free. Next generation sequencing performed on the neoplastic tissue showed co-amplification of MDM2 and CDK4. These alterations are molecular hallmarks of well-differentiated liposarcomas and corroborate the histological diagnosis. Clinical and molecular features of the presented case are in line with the majority of previously published experiences. In conclusion, the presence of a liposarcoma should be taken into account during the diagnostic workup of scrotal masses, in order to minimize the rate of misdiagnosis and improper management. Molecular analysis may support histological characterization of these rare entities and potentially disclose novel therapeutic targets.

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Next generation sequencing in a cohort of patients with rare sarcoma histotypes: A single institution experience

Cited by 5 publications

References 50 publications

Targeting cyclin-dependent kinases in sarcoma treatment: Current perspectives and future directions

Targeting cyclin-dependent kinases in sarcoma treatment: Current perspectives and future directions

Single-Cell Analysis in the Omics Era: Technologies and Applications in Cancer

Giant Paratesticular Liposarcoma: Molecular Characterization and Management Principles with a Review of the Literature

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