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However, data on <jats:italic>DICER1<\/jats:italic> involvement in paratesticular sarcomas have not been published. Herein, we analyse a series of 15 paediatric paratesticular sarcomas and describe in detail the case of a male infant with a paratesticular myxoid tumour, considered to be a low\u2010grade sarcoma, who also manifested a cystic nephroma, a classic DICER1 syndrome phenotype. He harboured a pathogenic germline <jats:italic>DICER1<\/jats:italic> variant and different somatic hot\u2010spot mutations in each tumour. The paratesticular tumour showed strong and diffuse expression for WT1 and CD10, an unusual immunophenotype in paediatric sarcomas, but typical of tumours of M\u00fcllerian origin. The tumour was postulated to arise from the appendix testis, a M\u00fcllerian remnant located in the paratestis. Such an origin would be analogous to other DICER1\u2010associated non\u2010epithelial gynaecological tumours, thought to arise from M\u00fcllerian derivatives. These findings point towards a key role of DICER1 in M\u00fcllerian\u2010derived structures. Supporting this hypothesis is the fact that the other paratesticular sarcomas from the series were either negative or focally positive for WT1 and for CD10, and none had any <jats:italic>DICER1<\/jats:italic> mutations. In summary, we present the first case of a paratesticular sarcoma associated with DICER1 syndrome, emphasising that paratesticular tumours with an unusual histological appearance may suggest an underlying <jats:italic>DICER1<\/jats:italic> mutation, especially in the presence of a personal or family history of DICER1\u2010associated disease. In this context, <jats:italic>DICER1<\/jats:italic> mutation testing could lead to changes in clinical care including implementation of cancer care surveillance strategies.<\/jats:p>","DOI":"10.1002\/cjp2.164","type":"journal-article","created":{"date-parts":[[2020,3,28]],"date-time":"2020-03-28T07:41:39Z","timestamp":1585381299000},"page":"185-194","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["<i>DICER1<\/i> screening in 15 paediatric paratesticular sarcomas unveils an unusual DICER1\u2010associated sarcoma"],"prefix":"10.1002","volume":"6","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2137-1439","authenticated-orcid":false,"given":"Maria","family":"Apellaniz\u2010Ruiz","sequence":"first","affiliation":[{"name":"Department of Human Genetics McGill University  Montr\u00e9al Canada"},{"name":"Lady Davis Institute, Segal Cancer Centre Jewish General Hospital, McGill University  Montr\u00e9al 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