Table 1.
Pathogenic germline mutations in the DICER1 gene related to Pleuropulmonary Blastoma.
| Mutation Type | Chromosomal Mutation | Protein Change | Clinical Manifestation | Reference |
|---|---|---|---|---|
| dup | c.1196_1197dupAG | p.Trp400Serfs*59 | 4-year old, pleuropulmonary blastoma. | Slade, 2011 [7] |
| 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] |
| tran | c.1507G>T | p.Glu503* | pleuropulmonary blastoma. | Hill, 2009 [1] |
| del | c.1684_1685delAT | p.Met562Valfs*11 | pleuropulmonary blastoma. | Hill, 2009 [1] |
| del | c.1716delT | p.Phe572Leufs*15 | 0.8-year old, pleuropulmonary blastoma. | Slade, 2011 [7] |
| dup | c.1910dupA | p.Tyr637* | 5-month old female, pleuropulmonary blastoma, and cervical embryonal rhabdomyosarcoma; pleuropulmonary blastoma & embryonal rhabdomyosarcoma. | Hill, 2009 [1]; Doros, 2012 [35] |
| tran | c.1966C>T | p.Arg656* | pleuropulmonary blastoma; 7-year old, pleuropulmonary blastoma. | Slade, 2011 [7] Hill, 2009 [1] |
| tran | c.2040+1G>T | p.splice | 10-year female, nasal chondromesenchymal hamartoma. History: Pleuropulmonary blastoma. | Stewart, 2014 [36] |
| dup | c.2245_2248dupTACC | p.Pro750Leufs*12 | pleuropulmonary blastoma. | Hill, 2009 [1] |
| tran | c.2247C>A | p.Tyr749* | pleuropulmonary blastoma. | Hill, 2009 [1] |
| del | c.2268_2271delTTTG | p.Cys756* | 0.9-year old, pleuropulmonary blastoma. | Slade, 2011 [7] |
| tran | c.2379T>G | p.Tyr793* | 11.5-years male, bilateral papillary thyroid carcinoma in follicular adenoma. History: 32 months, type II pleuropulmonary blastoma and cystic nephroma. | de Kock, 2014 [37] |
| dup | c.2392dupA | p.Thr798Asnfs*33 | pleuropulmonary blastoma. | Hill, 2009 [1] |
| del | c.2399delG | p.Arg800fs*5 | 3.5-year old and 13-year old, Wilms’ tumor. | Palculict, 2016 [38] |
| tran | c.2830C>T | p.Arg944* | pleuropulmonary blastoma. | Hill, 2009 [1] |
| del | c.2863delA | p.Thr955fs | 7-year old male, nasal chondromesenchymal hamartoma. History: pleuropulmonary blastoma. | Stewart, 2014 [36] |
| tran | c.3019C>T | p.Gln1007* | 27-year old woman, nasal chondromesenchymal hamartoma and pleuropulmonary blastoma. History: multinodular goiter. | Stewart, 2014 [36] |
| del | c.3505delT | p.Ser1169Glnfs*23 | 3-year-old, Pleuropulmonary blastoma. | Slade, 2011 [7] |
| dup | c.3505dupT | p.Ser1169Phefs*8 | 7-year old female, thyroid goiter, multiple nodules on both lobes. History: 4.3 years, pleuropulmonary blastoma in left back musculature. 23 months, type II pleuropulmonary blastoma. | de Kock, 2014 [37] |
| tran | c.3540C>A | p.Tyr1180* | pleuropulmonary blastoma. | Hill, 2009 [1] |
| del | c.3583_3584delGA | N/A | 6-year-old, intraocular medulloepithelioma. History: pleuropulmonary blastoma. | Slade, 2011 [7] |
| del | c.3665delT | p.Leu1222Tyrfs*17 | 4.2-year old, pleuropulmonary blastoma. | Slade, 2011 [7] |
| tran | c.3726C>A | p.Tyr1242* | 4-year old, pleuropulmonary blastoma; 27-year old female, pleuropulmonary blastoma. History: 13 years, Sertoli–Leydig cell tumor and multinodular goiter, 21 years, nasal chondromesenchymal hamartoma. | Slade, 2011 [7]; Stewart, 2014 [36] |
| del | c.4309_4312delGACT | p.Asp1437Metfs*16 | 8-year old female, embryonal rhabdomyosarcoma. History: 4 years, pleuropulmonary blastoma; Median Age 34 months, female, cystic nephroma, pleuropulmonary blastoma. | Doros, 2012 [35]; Bahubeshi, 2010 [39] |
| del | c.4403_4406delCTCT | p.Ser1468Phefs*21 | 1.5-year old, pleuropulmonary blastoma. | Slade, 2011 [7] |
| del | c.4407_4410delTTCT | p.Leu1469fs | 11-year old male, nasal chondromesenchymal hamartoma. History: pleuropulmonary blastoma. | Stewart, 2014 [36] |
| del | c.4555delG | p.Glu1519Lysfs*41 | 3-year old female, Polish, type II pleuropulmonary blastoma. | de Kock, 2013 [40] |
| tran | c.4616C>T | p.Thr1539Met | 11-year-old male, Hodgkin lymphoma, pleuropulmonary blastoma Type I. History: thyroid cysts, syringomyelia. | Kuhlen, 2016 [41] |
| tran | c.4748T>G | p.Leu1583Arg | pleuropulmonary blastoma. | Hill, 2009 [1] |
| tran | c.5104C>T | p.Gln1702* | 9-year old female, pleuropulmonary blastoma & ERMS. | Doros, 2012 [35] |
| del | c.5221_5232delAACAACACCATC | p.Asn1741_1744del | 9-year old male, multinodular goiter, pleuropulmonary blastoma. History: 20 months, cystic nephroma. | Rath, 2014 [42] |
| del | c.5299delC | premature stop in exon 24 | 11-year-old male, Hodgkin lymphoma, pleuropulmonary blastoma Type I. History: thyroid cysts, syringomyelia. | Kuhlen, 2016 [41] |
| tran | c.5387C>T | p.Gln1783* | 14-month old female, type I pleuropulmonary blastoma. History: cystic nephroma. | Fernandez-Martinez, 2017 [43] |
| tran | c.5465A>T | p.Asp1822Val | 1.8-year-old, pleuropulmonary blastoma. | Slade, 2011 [7] |
| tran | c.5477C>A | p.Ser1826* | Median Age 34 months, female, cystic nephroma, pleuropulmonary blastoma. | Bahubeshi, 2010 [39] |
del—deletion, dup—duplication, tran—transversion/transition.