Primary Intraprostatic Synovial Sarcoma

Olofson, Andrea M.; Linos, Konstantinos

doi:10.5858/arpa.2016-0101-rs

Cited by 11 publications

(14 citation statements)

References 21 publications

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“…PRKACA was identified by recent sequencing as a driver of cortisol-producing adenomas and perihilar cholangiocarcinoma [ 41 , 42 ]. SS18 with SSX fusion has been reported as driver of synovial sarcoma in many research studies [ 43 – 47 ]. TERT has also been reported as a cancer driver of various tissues including thyroid and liver [ 48 – 57 ].…”

Section: Resultsmentioning

confidence: 99%

Mut2Vec: distributed representation of cancerous mutations

et al. 2018

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BackgroundEmbedding techniques for converting high-dimensional sparse data into low-dimensional distributed representations have been gaining popularity in various fields of research. In deep learning models, embedding is commonly used and proven to be more effective than naive binary representation. However, yet no attempt has been made to embed highly sparse mutation profiles into densely distributed representations. Since binary representation does not capture biological context, its use is limited in many applications such as discovering novel driver mutations. Additionally, training distributed representations of mutations is challenging due to a relatively small amount of available biological data compared with the large amount of text corpus data in text mining fields.MethodsWe introduce Mut2Vec, a novel computational pipeline that can be used to create a distributed representation of cancerous mutations. Mut2Vec is trained on cancer profiles using Skip-Gram since cancer can be characterized by a series of co-occurring mutations. We also augmented our pipeline with existing information in the biomedical literature and protein-protein interaction networks to compensate for the data insufficiency.ResultsTo evaluate our models, we conducted two experiments that involved the following tasks: a) visualizing driver and passenger mutations, b) identifying novel driver mutations using a clustering method. Our visualization showed a clear distinction between passenger mutations and driver mutations. We also found driver mutation candidates and proved that these were true driver mutations based on our literature survey. The pre-trained mutation vectors and the candidate driver mutations are publicly available at http://infos.korea.ac.kr/mut2vec.ConclusionsWe introduce Mut2Vec that can be utilized to generate distributed representations of mutations and experimentally validate the efficacy of the generated mutation representations. Mut2Vec can be used in various deep learning applications such as cancer classification and drug sensitivity prediction.Electronic supplementary materialThe online version of this article (10.1186/s12920-018-0349-7) contains supplementary material, which is available to authorized users.

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Section: Resultsmentioning

confidence: 99%

Mut2Vec: distributed representation of cancerous mutations

et al. 2018

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“…Synovial sarcoma may occur at almost any anatomic site, 5 including the lungs, kidneys, cerebellum, parapharyngeal region, and heart. Cases of intraprostatic synovial sarcoma have also been reported in the literature.…”

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

“…Synovial sarcoma is driven by the presence of the t (X; 18) (p11.2; q11.2) translocation, which results in the formation of SS18 subunit of BAF chromatin remodelling complex (SS18)-SSX family member (SSX) fusion oncogenes. 4,5 Herein, the case of a 68-year-old male patient with classic manifestation and a definite diagnosis of primary synovial sarcoma of the right lower extremity is presented. The patient underwent local resection, but did not undergo further oncology consultation and treatment, and recurrence involving metastasis of the synovial sarcoma to the lung, heart and right adrenal gland occurred within 3 years of primary diagnosis.…”

Section: Introductionmentioning

confidence: 99%

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A rare case of synovial sarcoma with lung, heart and adrenal gland metastasis: a caution for patients and clinicians

Jiang

Zhu

et al. 2021

J Int Med Res

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A 68-year-old man presented to the Urology Clinic, West China Hospital, Chengdu, with a suspected right adrenal gland mass that had persisted for two months. He had no associated lumbodynia, dizziness or palpitation. Abdominal computed tomography (CT) revealed an uneven density and contrast-enhanced oval-like mass with smooth edges in the right adrenal gland. Laparoscopic right adrenal gland resection followed by histopathology confirmed a diagnosis of metastatic synovial sarcoma. The patient had a history of synovial sarcoma on the right upper leg 3 years previously that was surgically treated, but he had not undergone further treatment. Approximately 1.5 years later, he had undergone surgery for heart and lung metastasis from the synovial sarcoma of the thigh. At 5 months following laparoscopic right adrenal gland resection, abdominal CT showed a significant sign of right adrenal recurrence, and targeted therapy of 12 mg oral anlotinib, daily, was initiated. This relatively rare but alarming case highlights the importance of patient understanding and compliance to treatment.

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“…Prostate comply SS is extremely rare in clinical practice. The first case was reported by Iwasaki et al in 1999 [1] , and we retrieved nine cases in the English literature that were confirmed as primary SS of the prostate by molecular detection methods [1] , [2] , [3] , [4] , [5] , [6] , [7] , [8] , [9] , [10] . In the prostate biopsy, a case of prostate SS was found, which was confirmed to be prostate SS by immunohistochemistry and fluorescence in situ hybridization (FISH).…”

Section: Introduction and Importancementioning

confidence: 99%