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DICER1 screening in 15 paediatric paratesticular sarcomas unveils an unusual DICER1-associated sarcoma.

ABSTRACT: Individuals with DICER1 syndrome, a genetic disorder caused by pathogenic germline variants in DICER1, are at increased risk of developing a wide array of predominantly childhood onset conditions, including genitourinary sarcomas. However, data on DICER1 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-grade sarcoma, who also manifested a cystic nephroma, a classic DICER1 syndrome phenotype. He harboured a pathogenic germline DICER1 variant and different somatic hot-spot 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 Müllerian origin. The tumour was postulated to arise from the appendix testis, a Müllerian remnant located in the paratestis. Such an origin would be analogous to other DICER1-associated non-epithelial gynaecological tumours, thought to arise from Müllerian derivatives. These findings point towards a key role of DICER1 in Müllerian-derived 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 DICER1 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 DICER1 mutation, especially in the presence of a personal or family history of DICER1-associated disease. In this context, DICER1 mutation testing could lead to changes in clinical care including implementation of cancer care surveillance strategies.

SUBMITTER: Apellaniz-Ruiz M

PROVIDER: S-EPMC7339209 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature

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DICER1 screening in 15 paediatric paratesticular sarcomas unveils an unusual DICER1-associated sarcoma.

Apellaniz-Ruiz Maria M Cullinan Noelle N Grant Ronald R Marrano Paula P Priest John R JR Thorner Paul S PS Goudie Catherine C Foulkes William D WD

The journal of pathology. Clinical research 20200328 3

Individuals with DICER1 syndrome, a genetic disorder caused by pathogenic germline variants in DICER1, are at increased risk of developing a wide array of predominantly childhood onset conditions, including genitourinary sarcomas. However, data on DICER1 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-gra ...[more]

PMID: 32222066

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Project description:IntroductionPara testicular sarcomas are rare mesenchymal tumors that affect patients of all ages. Unlike other sites of sarcoma, they tend to be of lower grade and have a higher propensity for lymphatic spread. Management is hampered by the small number of patients who differ in terms of tumor grade and histology. Current treatment approaches are based on case reports, small case series and literature reviews, resulting in a number of unresolved issues. The consensus on the type of surgery and adjuvant treatment is yet to be determined. The local relapse rates in the scrotum and groin after orchidectomy comes out to be 25%-37%, indicating the need for either aggressive surgery or adjuvant treatment. There is a paucity of data identifying the patterns of failure and risk factors for recurrence, which will help clinicians tailor appropriate treatment.MethodsWe aim to perform a systematic review and meta-analysis of the available data in the last 50 years in a methodologically rigorous and transparent manner to identify patterns of failure and high-risk factors for recurrence. The protocol is prepared in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA-P) 2015 guidelines. The protocol is registered in the International Prospective Register of Systematic Reviews (CRD42021237134).HighlightsPara testicular sarcomas are rare mesenchymal tumors that affects patients of all ages. Current treatment approaches are based on case reports, small case series and literature reviews, resulting in a number of unresolved issues. A systemic review was performed in 2013 based on survival rates, prognostic factors, and relapse sites on paratesticular sarcomas. However, it lacks a comprehensive review that can guide radiation oncologists to select in which patient's postoperative radiotherapy is warranted and define the target volume based on histopathological type, stage, and grade of the tumor. After 2013, new case series with improved methodology and sample size are published, which adds new information to the literature. In one case series, 22 patients with spermatic cord sarcoma were discussed, while in another study, long-term outcome analysis of 51 patients was discussed, and another study discussed eight patients.

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DICER1 screening in 15 paediatric paratesticular sarcomas unveils an unusual DICER1-associated sarcoma.

Publications

DICER1 screening in 15 paediatric paratesticular sarcomas unveils an unusual DICER1-associated sarcoma.

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