GRCh38 · COSMIC v98


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Genomic Features of Metastatic Testicular Sex Cord Stromal Tumors.
Paper ID
Necchi A, Bratslavsky G, Shapiro O, Elvin JA, Vergilio JA, Killian JK, Ngo N, Ramkissoon S, Severson E, Hemmerich AC, Ali SM, Chung JH, Reddy P, Miller VA, Schrock AB, Gay LM, Ross JS and Jacob JM
Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy. Electronic address:
European urology focus, 2019
ISSN: 2405-4569
PMID: 31147264 (view at PubMed or Europe PMC)
Background: Metastatic testicular sex cord stromal tumors of the testis (MSCSTs) comprise an extremely uncommon form of genitourinary malignancy.Objective: To perform comprehensive genomic profiling (CGP) to enable the search for potential therapy targets.Ten patients with testicular Leydig cell tumors (LCTs), six with Sertoli cell tumors (SCTs), and three with undifferentiated sex cord stromal tumors (USCSTs) and a comparison group of 366 patients with ovarian sex cord stromal tumors (SCSTs) underwent hybrid-capture-based CGP to evaluate all classes of genomic alterations (GAs). The tumor mutational burden (TMB) was determined on 1.1 Mbp of sequenced DNA, and microsatellite instability (MSI) was determined on 114 loci.Intervention: CGP on tumor samples.Descriptive analyses and differences between histological subgroups were reported.In these patients, all of whom had metastatic disease at the time of sequencing, the primary testis tumor was sequenced in six (32%) patients and a metastatic site in 13 (68%) patients. The overall frequencies of GAs were similar in LCTs, SCTs, and USCSTs, ranging from 3.0 to 3.5 GAs/tumor. The most frequent untargetable GAs included CTNNB1 and CDKN2A/B, both ranging from 20% to 33% of cases. Targetable GAs were uncommon in all MSCST subgroups, but several tumors showed potential for cell-cycle inhibitors (CDK4 in LCTs), mTOR inhibitors (RICTOR, NF2, and PTEN in all three tumor types), hedgehog inhibitors (PTCH1 in LCTs), and poly(ADP-ribose) polymerase inhibitors (BAP1 in SCTs). No MSI-high status was identified. The TMB was also low in all MSCST groups, and tumors featuring a TMB of ≥10 mutations/Mb were not identified. GA findings from ovarian SCSTs largely recapitulated those from MSCSTs. A lack of clinical outcome correlation is a limitation of the present analyses.Conclusions: Rare cases of testicular MSCSTs have GAs linked to potential targeted therapy benefits on CGP. In contrast, the lack of MSI-high status and an overall low TMB indicate a likely lack of benefit for immunotherapies.Genomic profiling can guide clinical research and disclose therapeutic opportunities for patients with rare testicular cancers for which standard therapies are lacking.
Paper Status