Table 2 Key clinical characteristics and histopathology of DICER1-associated sarcomas reported in the literaturea

From: Expanding the spectrum of dicer1-associated sarcomas

Site of sarcoma

Number of cases

Age at diagnosisb median (range)

Genderc female (n)

Other DICER1-associated conditions

Diagnosisd (n)

Histopathologye

Rhabdomyoblastic differentiation

Anaplasia

Chondroid/myxoid differentiation

Number of cases with feature present/number of cases tested

Brain

26

6 y (0–76)

13

CBME (1)

LC (1)

CN (1)

ERMS (1)

DICER1-associated primitive intracranial sarcomae (1)

Sarcoma/sarcoma NOS (19)

PNET (1)

Glioblastoma (1)

Mesenchymal Chondrosarcoma (1)

Malignant tumor NOS (2)

21/24

17/20

18/24

Uterus

15

40.5 y (27–92)

15

Thyroid nodule (1)

LC (1)

ERMS (2)

Adenosarcoma (10)

Adenosarcoma with RMS differentiation (2)

Carcinosarcoma (1)

9/13

6/8

3/3

Uterine cervix

13

15 y (8–53)

13

MNG (7)

PTC (1)

LC (2)

PPB (2)

SLCT (3)

Bladder ERMS (1)

STS (1)

ERMS (11)

Adenosarcoma (1)

Central PNET (1)

Anaplastic sarcoma of the kidney (10)

9/9

3/3

4/4

Kidney

10

8.9 y (0.6–13)

6

TFA (1)

TFC (1)

PPB (1)

CN (1)

Bladder RMS (1)

SLCT (1)

 

10/10

10/10

9/9

Ovary

6

7.5 y (5–10)

6

MNG (1)

CN (1)

SLCT (1)

ERMS (1)

DICER1-associated ovarian sarcomae (1)

Undifferentiated sarcoma (1)

Carcinosarcoma (2)

Fibrosarcoma (1)

ERMS (5)

4/4

5/5

2/2

Bladder

5

0.5 y

(0.11–13)

3

CBME (1)

TFA (1)

PPB (2)

ASK (1)

SLCT (1)

cERMS (1)

 

5/5

1/1

1/1

Soft tissue

5

23 y

(16 to <39)

4

MNG (1)

PTC (1)

cERMS (1)

ERMS (1)

RMS (1)

Leiomyosarcoma (1)

Sarcoma (1)

DICER1-associated metastatic peritoneal sarcomae (1)

4/4

1/1

1/1

Thyroid

1

45 y

1

n/a

Carcinosarcoma (1)

1/1

1/1

1/1

Unknown

5

14 y (14 to <20)

1

MNG (1)

ERMS (3)

RMS (2)

1/1

1/1

n/a

Total N

62 (72%)

42

86

64/71 (90.1%)

45/50 (90%)

39/45 (86.7)

  1. ASK anaplastic sarcoma of the kidney, CBME ciliary body medulloepithelioma, CN cystic nephroma, LC lung cyst, MNG multinodular goiter, PPB pleuropulmonary blastoma, PNET primitive neuroectodermal tumor, PTC papillary thyroid carcinoma, NOS not otherwise specified, n/N number, n/a information not available, RMS rhabdomyosarcoma, ERMS embryonal rhabdomyosarcoma, cERMS cervical embryonal rhabdomyosarcoma, SLCT Sertoli–Leydig cell tumor, STS soft tissue sarcoma, TFA thyroid follicular adenoma, TFC thyroid follicular carcinoma, y years
  2. aPlease refer to the Supplementary Table 2 for additional details
  3. bExact age at diagnosis was not reported in 11 patients
  4. cThe gender was not reported in three patients
  5. dDiagnosis as reported in the publication
  6. eThree DICER1-associated sarcomas reported in current study
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