Epigenetic and genetic changes in soft tissue sarcomas: a review

Soini, Ylermi

doi:10.1111/apm.12600

Cited by 8 publications

(7 citation statements)

References 102 publications

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“…For example, if melanocytes were to be affected, this would result in a melanoma 37 . Likewise, if different mesenchymal cell types are impacted, it could lead to the development of LMS, UPS or MFS 38,39 . This model needs to be con rmed experimentally to prove its involvement in sarcoma's inception.…”

Section: Discussionmentioning

confidence: 99%

Germinal GLT8D1, GATAD2A and SLC25A39 mutations in a patient with a glomangiopericytal tumor and five different sarcomas over a 10-year period

Beddok

Pérot

Guellec

et al. 2021

Preprint

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Soft tissue sarcoma represents about 1% of all adult cancers. Occurrence of multiple sarcomas in a same individual cannot be fortuitous. A 72-year-old patient had between 2007 and 2016 a glomangiopericytal tumor of the right forearm and a succession of sarcomas of the extremities: a leiomyosarcoma of the left buttock, a myxofibrosarcoma (MFS) of the right forearm, an MFS of the left scapula, a left latero-thoracic MFS and two undifferentiated sarcomas on the left forearm. Pathological examination of the six locations was not in favor of disease with local/distant recurrences but could not confirm different diseases. An extensive molecular analysis including DNA-array, RNA-sequencing and DNA-Sanger-sequencing, was thus performed to determine the link between them. The genomic profile of the glomangiopericytal tumor and the six sarcomas revealed that five sarcomas were different diseases and one was the local recurrence of the glomangiopericytal tumor. While the chromosomal alterations in the six tumors were different, a common somatic CDKN2A/CDKN2B deletion was identified. RNA-sequencing of five tumors identified mutations in GLT8D1, GATAD2A and SLC25A39 in all samples. The germline origin of these mutations was confirmed by Sanger-sequencing. Innovative molecular analysis methods have made possible a better understanding of the complex tumorigenesis of multiple sarcomas.

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Section: Discussionmentioning

confidence: 99%

Germinal GLT8D1, GATAD2A and SLC25A39 mutations in a patient with a glomangiopericytal tumor and five different sarcomas over a 10-year period

Beddok

Pérot

Guellec

et al. 2021

Preprint

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“…Various hypotheses including gene mutations, expression of metallothioneins (MT) and influenced neighboring tissues by the same carcinogen have been used to explain the simultaneous development of a GIST and other carcinomas [ 10 , 11 ]. It is worth noting that genetic changes and polymorphisms play an important role in the development of sarcomas [ 12 ]. Furthermore, there is emerging data on genetic polymorphisms associated with susceptibility to a wide range of neoplasms [ 13 , 14 ], which can be reasonably explained by genetic changes and polymorphisms.…”

Section: Discussionmentioning

confidence: 99%

Coexistence of gastric gastrointestinal stromal tumor, intro-abdominal and retroperitoneal liposarcomas –a case report

Zhou¹,

Wang

Shi

et al. 2018

BMC Cancer

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BackgroundGastric gastrointestinal stromal tumor (GIST), intro-abdominal and retroperitoneal neoplasms are distinct tumors arising from different cell layers; therefore, coexistence of such tumors is relatively rare.Case presentationA man complained of early satiety for 2 mouths, whose upper gastrointestinal (GI) endoscopy showed a tumor arising from the greater curvature of gastric body and extending into the lumen. Abdominal computed tomography (CT) revealed coexistence of gastric, intro-abdominal and retroperitoneal masses. Wedge resection for gastric tumor, resection for intro-abdominal and retroperitoneal tumors were done. The postoperative histological examination suggested simultaneous development of a gastric GIST, intro-abdominal and retroperitoneal myxoid liposarcomas.ConclusionAlthough both GISTs and liposarcomas originate from mesenchymal tissues, simultaneous development of a gastric GIST, intro-abdominal and retroperitoneal liposarcomas is the first such case to be reported in the literature.

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“…For sarcomas, genetic variations including mutational changes, translocations and fusions, have been identified from ctDNA in liquid biopsy 50 , 51 . Correspondingly, epigenetics variations in sarcomas mainly encompass three types: DNA methylation, histone modification and non-coding RNA modifications 52 , 53 . To date, only circulating non-coding RNAs , mainly microRNAs, have been studied in sarcoma liquid biopsy samples 38 , 40 , 54 , 55 .…”

Section: Detection Methods For Ctnasmentioning

confidence: 99%

“…LMS commonly affects the uterus or retroperitoneum but also occurs throughout the body 164 . LMS presents with a highly complex karyotype with no specific mutations 52 , 165 . Therefore, liquid biopsy in LMS is rare, and a recent study by Hemming et al found that a higher level of ctDNA, including a panel of genes with copy number variations, detected by ultra-low-passage whole-genome sequencing was correlated with tumor size and tumor progression in LMS 166 .…”

Section: Detection Methods For Ctnasmentioning

confidence: 99%

The new horizon of liquid biopsy in sarcoma: the potential utility of circulating tumor nucleic acids

Wei

Xing

et al. 2020

J. Cancer

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The diagnosis, treatment and prognosis of sarcoma are mainly dependent on tissue biopsy, which is limited in its ability to provide a panoramic view into the dynamics of tumor progression. In addition, effective biomarkers to monitor the progression and therapeutic response of sarcoma are lacking. Liquid biopsy, a recent technological breakthrough, has gained great attention in the last few decades. Nucleic acids (such as DNA, mRNAs, microRNAs, and long non-coding RNAs) that are released from tumors circulate in the blood of cancer patients and can be evaluated through liquid biopsy. Circulating tumor nucleic acids reflect the intertumoral and intratumoral heterogeneity, and thus liquid biopsy provides a noninvasive strategy to examine these molecules compared with traditional tissue biopsy. Over the past decade, a great deal of information on the potential utilization of circulating tumor nucleic acids in sarcoma screening, prognosis and therapy efficacy monitoring has emerged. Several specific gene mutations in sarcoma can be detected in peripheral blood samples from patients and can be found in circulating tumor DNA to monitor sarcoma. In addition, circulating tumor non-coding RNA may also be a promising biomarker in sarcoma. In this review, we discuss the clinical application of circulating tumor nucleic acids as blood-borne biomarkers in sarcoma.

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Epigenetic and genetic changes in soft tissue sarcomas: a review

Cited by 8 publications

References 102 publications

Germinal GLT8D1, GATAD2A and SLC25A39 mutations in a patient with a glomangiopericytal tumor and five different sarcomas over a 10-year period

Germinal GLT8D1, GATAD2A and SLC25A39 mutations in a patient with a glomangiopericytal tumor and five different sarcomas over a 10-year period

Coexistence of gastric gastrointestinal stromal tumor, intro-abdominal and retroperitoneal liposarcomas –a case report

The new horizon of liquid biopsy in sarcoma: the potential utility of circulating tumor nucleic acids

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