Table 2.
Pathogenic germline mutations in the DICER1 gene related to Sertoli–Leydig Cell Tumor.
| Mutation Type | Chromosomal Mutation | Protein Change | Clinical Manifestation | Reference |
|---|---|---|---|---|
| tran | c.325C>T | p.Gln109* | 11-year old female, multinodular goiter. History: Sertoli–Leydig cell tumor. | Canfarotta M, 2016 [5] |
| del | c.876_879delAAAG | p.Arg293Ilefs*4 | 18-year old female, Sertoli–Leydig cell tumor. History: 16 years, multinodular goiter. | Rio Frio, 2011 [8] |
| tran | c.1376+1G>A | p.splice | 13-year old female, peritoneal cysts of right & left round ligaments, nasal polyps, Sertoli–Leydig cell tumor. History: 5 years, type II pleuropulmonary blastoma, 8 years, thyroid nodules. | Schultz, 2016 [34] |
| del | c.1532_1533delAT | N/A | 28-year old female, Sertoli–Leydig cell tumor. History: None | 16-year-old, Sertoli–Leydig cell tumor. | Oost, 2015 [63] |
| tran | c.2457C>G | p.Ile813_Tyr819del | 32-year old female, Sertoli–Leydig cell tumor. History: 18 years, multinodular goiter. | Rio Frio, 2011 [8] |
| del/ins | c.3270-6_4051—1280delinsG | p.Tyr1091Ser*28 | 14-year old female, multinodular goiter. History: Sertoli–Leydig cell tumor, primitive neuroectodermal tumor. | Sabbaghian, 2013 [64] |
| tran | c.3540C>A | p.Tyr1180* | 16-year old female, Sertoli–Leydig cell tumor. History: 14 years, bilateral multinodular goiter. 16-year old female, ovarian Sertoli–Leydig cell tumor, and lung lesion. History: 14 years, multinodular goiter. |
de Kock, 2016 [65] Wu, 2014 [66] |
| tran | c.3647C>A | p.Ser1216* | 13-year old female, Danish, multinodular goiter and Sertoli–Leydig cell tumor. | Rossing, 2014 [67] |
| tran | c.3649T>A | p.Tyr1217Asn | 13-year old female, Danish, multinodular goiter and Sertoli–Leydig cell tumor. | Rossing, 2014 [67] |
| tran | c.3726C>A | p.Tyr1242* | 27-year old female, pleuropulmonary blastoma. History: 13 years, Sertoli–Leydig cell tumor and multinodular goiter, 21 years, nasal chondromesenchymal hamartoma. | Stewart, 2014 [36] |
| del | c.4050+1delG | p.Val351Valfs*11 | 20-year old female, primitive neuroectodermal tumor & multinodular goiter. History: 9 years, Sertoli–Leydig cell tumor. | Foulkes, 2011 [68] |
| del | c.5018_5021delTCAA | p.Ile1673Thrfs*31 | 32-year old female, Sertoli–Leydig cell tumor. History: 18 years, multinodular goiter. | Rio Frio, 2011 [8] |
| del | c.5122_5128delGGAGATG | p.Gly1708Argfs*7 | 21-year old, Sertoli–Leydig cell tumor. History: 17 years, Sertoli–Leydig cell tumor. | Slade, 2011 [7] |
del—deletion, dup—duplication, tran—transversion/transition.