Genomic mutational profiling of circulating tumour DNA in metastatic angiosarcoma

Tanaka, Kenichiro; Myangat, Tselmeg Mijiddorj; Sawamura, Soichiro; Maeda‐Otsuka, Saki; Sakamoto, Ryoko; Yamada‐Kanazawa, Saori; Kanemaru, Hisashi; Makino, Katsunari; Aoi, Jun; Kajihara, Ikko; Ihn, Hironobu

doi:10.1111/jdv.17049

Cited by 3 publications

(2 citation statements)

References 11 publications

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“…Nevertheless, few studies focused on angiosarcoma have been published to our knowledge. In a study by Tanaka et al, ctDNA was successfully identified in four out of five patients with metastatic angiosarcoma using a generic ctDNA panel targeting recurrent cancer mutations [19]. In one patient, longitudinal quantification of three patient-specific mutations using digital PCR displayed a correlation between ctDNA levels and clinical outcome.…”

Section: Introductionmentioning

confidence: 99%

Treatment Monitoring of a Patient with Synchronous Metastatic Angiosarcoma and Breast Cancer Using ctDNA

Vannas,

Escobar,

Österlund

et al. 2024

IJMS

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Angiosarcoma is a rare and aggressive type of soft-tissue sarcoma with high propensity to metastasize. For patients with metastatic angiosarcoma, prognosis is dismal and treatment options are limited. To improve the outcomes, identifying patients with poor treatment response at an earlier stage is imperative, enabling alternative therapy. Consequently, there is a need for improved methods and biomarkers for treatment monitoring. Quantification of circulating tumor-DNA (ctDNA) is a promising approach for patient-specific monitoring of treatment response. In this case report, we demonstrate that quantification of ctDNA using SiMSen-Seq was successfully utilized to monitor a patient with metastatic angiosarcoma. By quantifying ctDNA levels using 25 patient-specific mutations in blood plasma throughout surgery and palliative chemotherapy, we predicted the outcome and monitored the clinical response to treatment. This was accomplished despite the additional complexity of the patient having a synchronous breast cancer. The levels of ctDNA showed a superior correlation to the clinical outcome compared with the radiological evaluations. Our data propose a promising approach for personalized biomarker analysis to monitor treatment in angiosarcomas, with potential applicability to other cancers and for patients with synchronous malignancies.

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Section: Introductionmentioning

confidence: 99%

Treatment Monitoring of a Patient with Synchronous Metastatic Angiosarcoma and Breast Cancer Using ctDNA

Vannas,

Escobar,

Österlund

et al. 2024

IJMS

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show abstract

“…Although the circulating cfDNA concentration levels are elevated in patients with EMPD and their variation in cfDNA levels reflects disease progression, 15 the ctDNA in EMPD has not been assessed. Moreover, although several studies are available on the utility of CAPP‐Seq in various cancers, 16–18 in terms of skin cancer, only two reports reveal the clinical utility of CAPP‐Seq in melanoma 19 and angiosarcoma 20 . Thus, we investigated the clinical significance of ctDNA in EMPD using a combination of CAPP‐Seq and droplet digital polymerase chain reaction (ddPCR).…”

Section: Introductionmentioning

confidence: 99%

Genomic landscape of circulating tumour DNA in metastatic extramammary Paget’s disease

Sawamura

Myangat

Kajihara

et al. 2021

Experimental Dermatology

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Although cancer personalized profiling by deep sequencing (CAPP‐Seq) of cell‐free DNA (cfDNA) has gained attention, the clinical utility of circulating tumour DNA (ctDNA) in extramammary Paget's disease (EMPD) has not been investigated. In this study, genomic alterations in the cfDNA and tumour tissue DNA were investigated in seven patients with metastatic EMPD. CAPP‐Seq revealed mutations in 18 genes, 11 of which have not yet been reported in EMPD. The variant allele frequency of some of the mutated genes reflected the disease course in patients with EMPD. In one patient, the mutation was detected even though imaging findings revealed no metastasis. In another patient with triple EMPD (genital area and both axilla), cfDNA sequencing detected the mutation in a rib metastatic lesion, which was also detected in both axilla lesions but not the genital region. Investigations of the ctDNA may be useful towards the elucidation of clonal evolution in EMPD.

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Genomic mutation analysis of circulating tumor DNA in metastatic cutaneous squamous cell carcinoma

Sawamura

Myangat

Kajihara

et al. 2022

Journal of Dermatological Science

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Genomic mutational profiling of circulating tumour DNA in metastatic angiosarcoma

Cited by 3 publications

References 11 publications

Treatment Monitoring of a Patient with Synchronous Metastatic Angiosarcoma and Breast Cancer Using ctDNA

Treatment Monitoring of a Patient with Synchronous Metastatic Angiosarcoma and Breast Cancer Using ctDNA

Genomic landscape of circulating tumour DNA in metastatic extramammary Paget’s disease

Genomic mutation analysis of circulating tumor DNA in metastatic cutaneous squamous cell carcinoma

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