Chromosomal Aberrations Accumulate during Metastasis of Virus-Negative Merkel Cell Carcinoma

Robb, Tamsin J.; Ward, Zoe; Houseman, Pascalene S.; Woodhouse, Braden J.; Patel, Rachna; Fitzgerald, Sandra; Tsai, Peter; Lawrence, Ben; Parker, Kate; Print, Cristin G.; Blenkiron, Cherie

doi:10.1016/j.jid.2023.01.015

Cited by 3 publications

(1 citation statement)

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“…In this study, chromosomal 1q gain and whole chromosome 6 loss were detected in advanced thymomas. In other tumors, chromosome 1q gain was identified in multiple myeloma [ 34 , 40 ], ependymoma [ 41 ], Wilms tumor [ 42 ], and New Zealand virus-negative Merkel cell carcinomas [ 43 ]. Whole chromosome 6 loss has been detected in acute lymphoblastic lymphoma [ 44 ].…”

Section: Discussionmentioning

confidence: 99%

Whole Exome Sequencing of Thymoma Patients Exhibiting Exceptional Responses to Pemetrexed Monotherapy

Tanaka

Goto²,

Horie

et al. 2023

Cancers

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Background: Pemetrexed is used for the chemotherapy of advanced thymoma. Exceptional responses of thymoma to pemetrexed treatment are not frequently observed. The underlying genetic mechanism of the exceptional responses remains unclear. We used whole-exome sequencing to explore the specific genomic aberrations that lead to an extreme and durable response. Methods: Whole-exome sequencing using NovaSeq6000 (150 bp paired-end sequencing) was performed on nine formalin-fixed paraffin-embedded tissues from patients with advanced thymomas treated with pemetrexed (two exceptional responders and seven typical responders). Results: We identified 284 somatic single-nucleotide variants (SNVs; 272 missense, 8 missense/splice-site, 3 stop-gain, and 1 stop-gain/splice-site), 34 insertions and deletions (Indels; 33 frameshift and one splice region), and 21 copy number variations (CNVs; 15 gains and six losses). No difference in the number of SNVs variants and distribution of deleterious Indels was observed between the exceptional and typical responders. Interestingly, arm-level chromosomal CNVs (15 gains and six losses) were detected in four patients, including an exceptional responder. The highest number of arm-level CNVs was observed in an exceptional responder. Conclusion: Exceptional responders to pemetrexed for metastatic thymomas may be characterized by arm-level CNVs. Further, whole-genome and RNA sequencing studies should be performed.

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Section: Discussionmentioning

confidence: 99%

Whole Exome Sequencing of Thymoma Patients Exhibiting Exceptional Responses to Pemetrexed Monotherapy

Tanaka

Goto²,

Horie

et al. 2023

Cancers

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Analyzing the Role of Time Series Analysis in Early Detection of Merkel Cell Carcinoma

Singh,

Seth,

Nachappa

2024

2024 International Conference on Optimization Computing and Wireless Communication (ICOCWC)

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Merkel cell carcinoma: updates in tumor biology, emerging therapies, and preclinical models

Pedersen,

Verhaegen,

Joseph

et al. 2024

Front. Oncol.

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Merkel cell carcinoma (MCC) is an aggressive cutaneous neuroendocrine carcinoma thought to arise via either viral (Merkel cell polyomavirus) or ultraviolet-associated pathways. Surgery and radiotherapy have historically been mainstays of management, and immunotherapy has improved outcomes for advanced disease. However, there remains a lack of effective therapy for those patients who fail to respond to these established approaches, underscoring a critical need to better understand MCC biology for more effective prognosis and treatment. Here, we review the fundamental aspects of MCC biology and the recent advances which have had profound impact on management. The first genetically-engineered mouse models for MCC tumorigenesis provide opportunities to understand the potential MCC cell of origin and may prove useful for preclinical investigation of novel therapeutics. The MCC cell of origin debate has also been advanced by recent observations of MCC arising in association with a clonally related hair follicle tumor or squamous cell carcinoma in situ. These studies also suggested a role for epigenetics in the origin of MCC, highlighting a potential utility for this therapeutic avenue in MCC. These and other therapeutic targets form the basis for a wealth of ongoing clinical trials to improve MCC management. Here, we review these recent advances in the context of the existing literature and implications for future investigations.

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Chromosomal Aberrations Accumulate during Metastasis of Virus-Negative Merkel Cell Carcinoma

Cited by 3 publications

References 46 publications

Whole Exome Sequencing of Thymoma Patients Exhibiting Exceptional Responses to Pemetrexed Monotherapy

Whole Exome Sequencing of Thymoma Patients Exhibiting Exceptional Responses to Pemetrexed Monotherapy

Analyzing the Role of Time Series Analysis in Early Detection of Merkel Cell Carcinoma

Merkel cell carcinoma: updates in tumor biology, emerging therapies, and preclinical models

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