Table 2.
Case No. | Translocation | Histology | IGF2 CA Repeat DNA | IGF2 CA Repeat cDNA | IGF2 Apa1 DNA | IGF2 Apa1 cDNA | H19 Rsa1 DNA | H19 Rsa1 cDNA | TH | IGF2 Imprint | H19 Imprint | LOH Probability (%) | ROH Probability (%) | p57KIP2 Expression |
3 | t(1;13) | ARMS | A/B | - | -/B | - | A/B | - | - | 100 | ||||
4 | t(1;13) | NOS | - | A/- | -/B | -/B | - | - | 2 | 100 | No | |||
5 | t(1;13) | ARMS | A/B | - | A/B | A/B | A/B | A/- | - | LOI | ROI | 100 | ||
6 | t(1;13) | ARMS | A/- | - | -/B | - | A/- | - | 1 | 94* | 6* | Yes | ||
7 | t(1;13) | ARMS | A/B | A/b | A/B | A/B | A/- | - | - | LOI(p) | 100 | |||
8 | t(1;13) | ARMS | A/B | - | A/B | - | -B | - | - | 100 | ||||
16 | t(2;13) | ARMS | A/B | - | -/B | - | A/- | - | - | 100 | Yes | |||
17 | t(2;13) | ARMS | A/B | - | A/- | - | A/B | -/B | - | ROI | 100 | |||
23 | t(2;13) | ARMS | - | - | -/B | - | -B | - | - | 75* | 25* | No | ||
25 | t(2;13) | ARMS | A/- | - | -/B | - | A/- | - | - | 90* | 10* | No | ||
31 | t(2;13) | ARMS | A/B | - | -/B | -/B | A/B | A/- | - | ROI | 100 | |||
35 | t(2;13) | ARMS | A/B | - | A/B | A/- | -/B | - | 2 | ROI | 100 | Yes | ||
36 | t(2;13) | ERMS | A/B | A/B | A/B | A/B | A/B | -/B | 2 | LOI | ROI | 100 | No | |
37 | t(2;13) | ARMS | - | - | A/B | -/B | A/B | A/- | 2 | ROI | ROI | 100 | Yes | |
38-T | t(2;13) | NOS | A/- | A/- | -/B | - | A/B | A/- | 2 | ROI | 100 | No | ||
38-N | A/- | - | -/B | - | - | - | ||||||||
40 | t(2;13) | ARMS | A/B | - | -/B | - | A/- | - | 1 | 100 | Yes | |||
41 | t(2;13) | ARMS | A/B | - | -/B | - | a/B | A/- | - | ROI | 100 | No | ||
42 | t(2;13) | ARMS | A/B | - | A/B | A/- | -/B | - | 2 | ROI | 100 | Yes | ||
43 | t(2;13) | ARMS | A/B | A/b | -/B | - | A/B | - | 2 | LOI(p) | 100 | No | ||
44 | t(2;13) | ERMS | A/B | - | A/B | a/B | A/B | -/B | - | LOI(p) | ROI | 100 | ||
45 | t(2;13) | ARMS | A/B | - | A/- | - | -/B | - | - | 100 | ||||
96 | t(2;13) | ARMS | A/B | - | A/B | A/B | -/B | - | 1 | LOI | 100 | No | ||
53 | Neither | ERMS | A/B | A/- | A/- | - | -/B | - | - | ROI | 100 | |||
54 | Neither | ERMS | A/B | - | A/- | - | -B | - | 2 | 100 | ||||
56 | Neither | ERMS | A/B | - | -/B | - | -B | - | - | 100 | Yes | |||
59 | Neither | ERMS | - | - | -/B | - | A/- | - | 1 | 87* | 13* | Yes | ||
61 | Neither | ARMS | A/B | - | -/B | - | A/- | - | 1 | 100 | Yes | |||
82 | Neither | ERMS | A/B | - | -/B | - | -/B | - | 2 | 100 | No | |||
84 | Neither | ERMS | A/- | - | -/B | -/B | A/B | - | 2 | 100 | No | |||
85 | Neither | ERMS | A/B | - | - | - | A/B | - | - | 100 | ||||
86-T | Neither | ERMS | A/- | - | -/B | - | A/- | - | 1 | 100 | 0 | No | ||
86-N | A/B | - | -/B | - | - | - | - | |||||||
87 | Neither | ERMS | A/- | A/- | -/B | - | -/B | - | - | 99* | 1* | |||
88 | Neither | ARMS | A/B | A/- | A/- | A/- | - | - | - | ROI | 100 | |||
91 | Neither | ERMS | A/B | - | -/B | - | A/B | -/B | - | ROI | 100 | |||
92 | Neither | ERMS | A/B | A/- | A/B | -/B | A/B | a/B | 1 | ROI | LOI(p) | 100 | Yes | |
93-T | Neither | ERMS | a/B | - | A/- | - | -/B | -/B | 1 | 100 | 0 | |||
93-N | - | - | - | - | - | - | 2 | |||||||
94 | Neither | ERMS | A/B | A/- | A/- | - | A/B | -/B | 2 | ROI | ROI | 100 | Yes | |
95 | Neither | PRMS | - | - | -/B | - | -B | - | 1 | 87* | 13* | Yes | ||
97 | Neither | PRMS | A/B | - | -/B | - | A/B | -/B | - | ROI | 100 | |||
98-T | Neither | ERMS | A/- | - | -/B | - | -/B | - | 2 | 100 | No | |||
98-N | A/- | - | -/B | - | - | - | - | |||||||
100-T | Neither | ERMS | A/- | - | -/B | - | A/B | A/- | - | ROI | 100 | |||
100-N | A/- | - | -/B | - | - | - | 1 | |||||||
101 | Neither | PRMS | - | - | -/B | - | A/- | - | 2 | 100 | Yes | |||
104 | Neither | NOS | A/B | - | -/B | -/B | A/- | - | - | 100 | Yes | |||
107-T | Neither | ARMS | A/- | - | -/B | - | A/B | -/B | 1 | ROI | 100 | No | ||
107-N | A/- | - | - | - | - | - | - | |||||||
108 | Neither | ERMS | A/B | - | A/B | - | A/B | A/- | - | ROI | 100 | |||
109 | Neither | ERMS | A/B | - | - | - | -/B | - | 1 | 100 | ||||
110 | Neither | ARMS | A/- | - | -/B | -/B | A/B- | - | 1 | 100 | Yes | |||
168 | Neither | NOS | A/B | - | - | - | - | - | - | 100 | No |
p in brackets indicates partial loss of imprinting. A refers to the larger of two allele and B is the smaller. The column headed TH indicates the number of alleles of the tyrosine hydroxylase CA repeat polymorphism present in tumour DNA. Upper case indicates disproportional representation of an allele relative to its partner (shown in lowercase).“-” indicates an assay which was not performed successfully, either because of insufficient material or poor quality DNA/RNA. If IGF or H19 polymorphisms were noninformative for imprinting, the cDNA assay was not usually performed. The individual polymorphism frequencies are as follows: IGF2 Apa1=50% [38], IGF2 CA repeat 5′ end=60% [39], H19 Rsa1=50% [40], TH CA repeat=56% [41], D11S922=90% [42].
Indicates LOH/ROH results which are statistically inferred.