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 |