Table 1. Copy number abnormalities detected by array CGH in individual desmoid tumors.
Category | Case | Sex | Mutation | Location | Copy number abnormalities |
Non-FAP | P9A | F | CTNNB1 na, APC na | Intra-abd small bowel | −6p21.2-p12, −6q12-qter |
P15A | F | CTNNB1 | Abd wall | −6q12-qter, +21q22.11-q22.12 | |
P18A | F | CTNNB1 | Abd wall recurrence | −6, −13 | |
D17 | M | APC | Abd wall post-surgery | −5q22.2-q23.1, −6p21.2-p21.1 | |
D8 | F | CTNNB1 | Extra-abd paravertebral | −5q14.3-q22.1, −5q35.1, +8 | |
D12 | F | CTNNB1 | Extra-abd paraspinal | +20 | |
D6 | F | no CTNNB1, APC na | Extra-abd rectus abdominus | +13q12.12-q12.13 | |
183T | F | no CTNNB1, no APC | Extra-abd back | −6 | |
141T | M | CTNNB1 | Extra-abd arm | −6 | |
D11 | M | CTNNB1 | Extra-abd foot | +12q14.3-q15 | |
D7 | M | CTNNB1 | Extra-abd leg | +8, +20 | |
114T | M | CTNNB1 | Extra-abd leg | +8q | |
D5 | M | CTNNB1 | Extra-abd suprapubical | −6 | |
129T | M | no CTNNB1, no APC | Extra-abd back | +8q, +Yq11.223-q11.23 | |
FAP | HDD-H | F | APC | Intra-abd | −5q21.1-q31.1 |
D15-1 | M | APC | Intra-abd | −5q11.2-qter, −6q14.1-q24.3, −8p21.3-p11.21, −Yq11.223-q11.23 | |
D15-2 | M | APC | Intra-abd | +1p13.3-p13.2, −6, −Y | |
2444M | M | APC | Intra-abd | −10q22.3, +X | |
P13A | F | APC | Abd wall | −6q12-qter, −13q14.11-q34, +20q | |
P6A | F | APC | Abd wall | −5q22.1-q22.2, −13 | |
P5A | F | APC | Extra-abd inguinal canal | −5q15-q31.2 | |
2428M | M | APC | Abd wall | −6 | |
P8A | M | APC | Abd wall | −3p26.1-p23, −6q15-q23.3, +20cen | |
D16 | F | APC | Extra-abd shoulder/back | −5q14.3-q33.1, −X |
Abbreviations: F, female; M, male; na, not available; Intra-abd, intra-abdominal; Abd, abdominal; Extra-abd, extra-abdominal.