Table 1 Published reports of germ cell tumors with DICER1 variation

From: Presacral malignant teratoid neoplasm in association with pathogenic DICER1 variation

Diagnosis

Demographics (Sex/age)

DICER1 Somatic/germline

Comment on histology

Follow-up

Reference

Sacrococcygeal teratoma with nephroblastoma

Female/3 years

N/A

Composed predominantly of nephroblastomatous tissue; ultrastructural features like Wilms

Alive and well after 12 months

Ward Cancer 1974

Seminoma (1 of 72 in series)

Male/32 years

No data/c.G4740G: p.Q1580H

No data

Alive at 46 years

Slade JMG 2011

Primitive germ cell tumor: Yolk sac (PGCTYS-01)a

No data

c.G5125A: p.D1709N/No data

No data

No data

Heravi-Moussavi NEJM 2012

Primitive germ cell tumor: Yolk sac (PGCTYS-02)a

No data

c.T5127A: p.D1709E and trans c.G5492A: p.Y1831Ter/No data

No data

No data

Heravi-Moussavi NEJM 2012

Teratoma: Matureb

No data

c.G5428T: p.D1810Y/ No data

No data

No data

Heravi-Moussavi NEJM 2012

Testicular germ cell tumor (seminoma)c

No data

p.R1725Q/No data

No data

No data

De Boer BMC Research Notes 2012

Mixed germ cell tumor (yolk sac tumor/immature teratoma)d

Female/27 years

c.G5428T: p.D1810Y/ No data

No data

No data

Witkowski BJC 2013

Mixed gonadoblastoma/dysgerminomad

Female/15 years

c.A5429G: p.E1788fs*41/No data

No data

No data

Witkowski BJC 2013

Mixed germ cell tumor (dysgerminoma/yolk sac tumor)d

Female/9 years

c.A5438G: p.E1788fx*41/No data

No data

No data

Witkowski BJC 2013

Mixed germ cell tumor (embryonal carcinoma/immature teratoma/choriocarcinoma)d

Male/ 12 years

c.A5438G: p.E1788fx*41/No data

No data

No data

Witkowski BJC 2013

Yolk sac tumord

Male/ 1 year

c.A5438G: p.E1788fx*41/No data

No data

No data

Witkowski BJC 2013

Familial testicular germ cell tumors

43 probands

Numerous likely non-pathogenic germline variants

No data

No data

Sabbaghian BMC Research Notes 2013

Malignant thyroid teratoma

Female/59 years

c.A5438G: p.E1813Ge/No data

Post-chemotherapy pathology showed residual teratoma with extensive hyalinization, necrosis, dystrophic calcification, chronic inflammation and pigment-laden histiocytes consistent with treatment effects

Alive at 4-year follow-up

Rabinowits Thyroid 2017

  1. aOf 15 yolk sac tumors sequenced, two harbored somatic DICER1 variation
  2. bOf five immature and nine mature teratomas sequenced, one mature teratoma harbored somatic DICER1 variation
  3. cA somatic DICER1 variant found in 96 TGCT tumors
  4. dData on five tumors reported in Table 3 of Witkowski 2013. A total of 99 ovarian germ cell tumors and 19 testicular germ cell tumors were sequenced resulting in 5/118 (4.2%) with a somatic DICER1 variant. Germline DNA was available for only five tumors (not specified) and did not show DICER1 variation
  5. eThis somatic DICER1 variant was observed in 56% of reads; no copy-number changes were observed. Two TP53 variants were also observed (c.G743A: p.R248Q and c.376_splice:p.Y126_splice) and an NF1 variant (c.A3160C: p.N1054H) in 6–8% of reads, suggesting a subclonal tumor population
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