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Table 1 Clinical characteristics and immunohistochemical staining results

From: Association of immunohistochemical markers with premalignancy in Gonadal Dysgenesis

Patient

Age

Diagnosis

Sex assignment (M/F)

Karyotype

Gonadal location

EMS out of 12

Malignancy

Gonadal tissue type

OCT 3/4

PLAP

Β-Catenin

AFP

CD117

1

6 y

XY PGD

F

45,X[16]/46,X + mar[4], SRY positive

Abdomen

1

No

Streak

-

-

++C

-

+C

2

11 y

XY PGD

F

45,X/46,XY

Abdomen

1

No

Streak

-

-

++C

-

+C

3

12 y

XY PGD

F

45,X/46,XY

Abdomen

1

No

Streak

-

-

++C

-

-

4

16 y

XY PGD

F

45,X[11]/46, X, idic (Y) (q11.21)

Abdomen

1

No

Streak

-

-

++N

-

-

5

7 m

XY PGD

M

45, X/46, XY

L- abdomen

8.5

No

Streak

-

-

++C

-

-

R- scrotum

6

7 m

XY PGD

M

45, X/46, XY

L-Scrotum

11.5

No

Streak

-

-

++C

-

-

R-abdomen

7

4 m

XX PGD

M

46, XX

Inguinal

3

No

O/T

+C, T & O

-

++C, T & O

-

+C, T

++C, O

8

6 m

XX PGD

M

46, XX

Inguinal

4

No

O/T

+C, T & O

-

++C, T & O

-

+C, T

++C, O

9

2 y

XX PGD

M

46, XX

Inguinal

5

No

O/T

+C, T & O

-

-T

-

-T

++C, O

++C, O

10

5 m

XY PGD

M

46, XX/46, XXY

L-scrotum

6

No

O/T

++N, T

++C, T

++C, T & O

-

++C, T & O

R- abdomen

+C, O

-O

11

8 m

XY PGD

M

46, XY with mosaicism for 45, X/46, XY in 40 % of cells

L- abdomen R- scrotum

6.5

No

O/T

-

-

++C

++C

+C

12

9 y

XY PGD

M

46, XY/47, XXY/45,X

Abdomen

8

No

O/T

-

-

++C

-

-T

+C, O

13

14 m

XX PGD

M

46, XX

L- inguinal

8.5

No

O/T

++N

++C

++C

-

++C

R- scrotum

14a

12 m

XY PGD

M

45, X/46, XY

R abdomen

8

No

O/T

++N

++C

++C

-

++C

14b

33 m

XY PGD

M

45, X/46, XY

L-scrotal

8

No

Dysgenetic Testis

+N

-

++C

-

+C

15

15 y

XY PGD

F

46, XY and gain of chrom 16p11.2

Inguinal

2

No

Dysgenetic Testis

-

-

+C

-

-

16

2 m

XY PGD

F

45, X/46, XY

Abdomen

4

No

Dysgenetic Testis

++N

++C

++C

-

++C

17

22 m

XY PGD

F

45, X/46, XY

Inguinal

5

No

Dysgenetic Testis

++N

++C

++C

-

+C

18

4 y

XY PGD

F

46, XY with gain of chrom 2q14.1

Inguinal

5

No

Dysgenetic Testis

-

-

++C

-

-

Patient

Age

Diagnosis

Sex assignment (M/F)

Karyotype

Gonadal location

EMS out of 12

Malignancy

Gonadal tissue type

OCT 3/4

PLAP

Β-Catenin

AFP

CD117

19

16 y

XY PGD

F

46, XY

Inguinal

5

No

Dysgenetic Testis

+C

-

++C

-

+C

20

11 m

XY PGD

M

46, XY

Inguinal

6

No

Dysgenetic Testis

-

-

-

-

-

21

6 m

XY PGD

M

46, XY

L-scrotum

9

No

Dysgenetic Testis

++N

++C

++C

-

++C

R- abdomen

22

20 m

XY PGD

M

45, X/46, XY

Inguinal

9

No

Dysgenetic Testis

-

-

++C

-

-

23

7 m

XY PGD

F

46, XY, t(11;16)(q22.1;q12.2)

Abdomen

1

GB-like

GB-like arising from immature testicular tissue

++N

++C

++C

-

++C

24

11 m

XY PGD

M

46, XY

L- abdomen

9.5

L gonad- GB

GB arising from streak-like ovarian tissue

++N

++C

++C

-

++C

R- scrotum

25

17 y

XY CGD

F

46, XY

Abdomen

1

GB with DG

DG and GB arising from steak gonad with Ovarian stroma

++N

++C

++C

-

++C

26

18 y

XY CGD

F

46, XY

Abdomen

1

R ovary- GB & DG

GB and DG arising from streak gonad with Ovarian stroma

++N

++C

++C

-

++C

L ovary- GB

  1. PGD Partial Gonadal Dysgenesis, CGD Complete Gonadal Dysgenesis, O/T Ovarian and Testicular Components, DG Dysgerminoma, GB Gondadoblastoma, - negative staining, + weakly positive, ++ strongly positive, C cytoplasm, N nuclei, T testicular tissue, O ovarian tissue