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result sql = Detection of the activating JAK2 V617F mutation in paraffin-embedded trephine bone marrow biopsies of patients with chronic myeloproliferative diseases.
Detection of the activating JAK2 V617F mutation in paraffin-embedded trephine bone marrow biopsies of patients with chronic myeloproliferative diseases.char = T;code = 84
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char = l;code = 108
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char = c;code = 99
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char = e;code = 101
char = d;code = 100
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char = t;code = 116
char = h;code = 104
char = e;code = 101
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char = m;code = 109
char = u;code = 117
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char = u;code = 117
char = l;code = 108
char = t;code = 116
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char = ;code = 32
char = B;code = 66
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char = c;code = 99
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char = n;code = 110
char = g;code = 103
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char = 2;code = 50
char = 4;code = 52
char = ;code = 32
char = o;code = 111
char = f;code = 102
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char = 5;code = 53
char = 4;code = 52
char = ;code = 32
char = (;code = 40
char = 4;code = 52
char = 4;code = 52
char = %;code = 37
char = );code = 41
char = ;code = 32
char = e;code = 101
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char = u;code = 117
char = a;code = 97
char = b;code = 98
char = l;code = 108
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char = V;code = 86
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result sql = The discovery of the activating V617F mutation in the JAK2 tyrosine kinase in a high proportion of patients with Ph- chronic myeloproliferative diseases (CMPD) represents a diagnostic breakthrough for these disorders. Trephine bone marrow biopsy is an essential part of the diagnostic workup of CMPD and represents a valuable archival source of DNA. Therefore, we studied 152 paraffin-embedded trephines with CMPD and related disorders for the presence of the V617F mutation, using both allele-specific polymerase chain reaction (PCR) and nested PCR with subsequent digestion with BsaXI. Only 6 of 152 (4%) samples were not evaluable because of poor DNA quality. The V617F mutation was detected in 27 of 28 (96%) cases of polycythemia vera, 17 of 23 (74%) cases of essential thrombocythemia, 28 of 45 (62%) cases of chronic idiopathic myelofibrosis, six of eight (75%) cases of CMPD unclassified, and two of four (50%) cases of myelodysplastic/myeloproliferative syndrome. Ph+ chronic myelogenous leukemia (four cases), reactive (secondary) erythrocytosis (14 cases), and thrombocytosis (one case) as well as normal controls (19 cases) all lacked the V617F mutation. Based on results of BsaXI digestion and sequencing, 24 of 54 (44%) evaluable V617F+ cases were considered homozygously mutated. Thus, detection of the V617F JAK2 mutation is feasible in paraffin-embedded trephine biopsies and represents a major advance in the diagnostic evaluation of CMPD.
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result sql = Detection of the activating JAK2 V617F mutation in paraffin-embedded trephine bone marrow biopsies of patients with chronic myeloproliferative diseases.
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char = 1;code = 49
char = 7;code = 55
char = F;code = 70
char = ;code = 32
char = m;code = 109
char = u;code = 117
char = t;code = 116
char = a;code = 97
char = t;code = 116
char = i;code = 105
char = o;code = 111
char = n;code = 110
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char = i;code = 105
char = n;code = 110
char = ;code = 32
char = t;code = 116
char = h;code = 104
char = e;code = 101
char = ;code = 32
char = J;code = 74
char = A;code = 65
char = K;code = 75
char = 2;code = 50
char = ;code = 32
char = t;code = 116
char = y;code = 121
char = r;code = 114
char = o;code = 111
char = s;code = 115
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char = n;code = 110
char = e;code = 101
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char = k;code = 107
char = i;code = 105
char = n;code = 110
char = a;code = 97
char = s;code = 115
char = e;code = 101
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char = i;code = 105
char = n;code = 110
char = ;code = 32
char = a;code = 97
char = ;code = 32
char = h;code = 104
char = i;code = 105
char = g;code = 103
char = h;code = 104
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char = p;code = 112
char = r;code = 114
char = o;code = 111
char = p;code = 112
char = o;code = 111
char = r;code = 114
char = t;code = 116
char = i;code = 105
char = o;code = 111
char = n;code = 110
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char = o;code = 111
char = f;code = 102
char = ;code = 32
char = p;code = 112
char = a;code = 97
char = t;code = 116
char = i;code = 105
char = e;code = 101
char = n;code = 110
char = t;code = 116
char = s;code = 115
char = ;code = 32
char = w;code = 119
char = i;code = 105
char = t;code = 116
char = h;code = 104
char = ;code = 32
char = P;code = 80
char = h;code = 104
char = -;code = 45
char = ;code = 32
char = c;code = 99
char = h;code = 104
char = r;code = 114
char = o;code = 111
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char = i;code = 105
char = c;code = 99
char = ;code = 32
char = m;code = 109
char = y;code = 121
char = e;code = 101
char = l;code = 108
char = o;code = 111
char = p;code = 112
char = r;code = 114
char = o;code = 111
char = l;code = 108
char = i;code = 105
char = f;code = 102
char = e;code = 101
char = r;code = 114
char = a;code = 97
char = t;code = 116
char = i;code = 105
char = v;code = 118
char = e;code = 101
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char = d;code = 100
char = i;code = 105
char = s;code = 115
char = e;code = 101
char = a;code = 97
char = s;code = 115
char = e;code = 101
char = s;code = 115
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char = C;code = 67
char = M;code = 77
char = P;code = 80
char = D;code = 68
char = );code = 41
char = ;code = 32
char = r;code = 114
char = e;code = 101
char = p;code = 112
char = r;code = 114
char = e;code = 101
char = s;code = 115
char = e;code = 101
char = n;code = 110
char = t;code = 116
char = s;code = 115
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char = a;code = 97
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char = d;code = 100
char = i;code = 105
char = a;code = 97
char = g;code = 103
char = n;code = 110
char = o;code = 111
char = s;code = 115
char = t;code = 116
char = i;code = 105
char = c;code = 99
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char = b;code = 98
char = r;code = 114
char = e;code = 101
char = a;code = 97
char = k;code = 107
char = t;code = 116
char = h;code = 104
char = r;code = 114
char = o;code = 111
char = u;code = 117
char = g;code = 103
char = h;code = 104
char = ;code = 32
char = f;code = 102
char = o;code = 111
char = r;code = 114
char = ;code = 32
char = t;code = 116
char = h;code = 104
char = e;code = 101
char = s;code = 115
char = e;code = 101
char = ;code = 32
char = d;code = 100
char = i;code = 105
char = s;code = 115
char = o;code = 111
char = r;code = 114
char = d;code = 100
char = e;code = 101
char = r;code = 114
char = s;code = 115
char = .;code = 46
char = ;code = 32
char = T;code = 84
char = r;code = 114
char = e;code = 101
char = p;code = 112
char = h;code = 104
char = i;code = 105
char = n;code = 110
char = e;code = 101
char = ;code = 32
char = b;code = 98
char = o;code = 111
char = n;code = 110
char = e;code = 101
char = ;code = 32
char = m;code = 109
char = a;code = 97
char = r;code = 114
char = r;code = 114
char = o;code = 111
char = w;code = 119
char = ;code = 32
char = b;code = 98
char = i;code = 105
char = o;code = 111
char = p;code = 112
char = s;code = 115
char = y;code = 121
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char = i;code = 105
char = s;code = 115
char = ;code = 32
char = a;code = 97
char = n;code = 110
char = ;code = 32
char = e;code = 101
char = s;code = 115
char = s;code = 115
char = e;code = 101
char = n;code = 110
char = t;code = 116
char = i;code = 105
char = a;code = 97
char = l;code = 108
char = ;code = 32
char = p;code = 112
char = a;code = 97
char = r;code = 114
char = t;code = 116
char = ;code = 32
char = o;code = 111
char = f;code = 102
char = ;code = 32
char = t;code = 116
char = h;code = 104
char = e;code = 101
char = ;code = 32
char = d;code = 100
char = i;code = 105
char = a;code = 97
char = g;code = 103
char = n;code = 110
char = o;code = 111
char = s;code = 115
char = t;code = 116
char = i;code = 105
char = c;code = 99
char = ;code = 32
char = w;code = 119
char = o;code = 111
char = r;code = 114
char = k;code = 107
char = u;code = 117
char = p;code = 112
char = ;code = 32
char = o;code = 111
char = f;code = 102
char = ;code = 32
char = C;code = 67
char = M;code = 77
char = P;code = 80
char = D;code = 68
char = ;code = 32
char = a;code = 97
char = n;code = 110
char = d;code = 100
char = ;code = 32
char = r;code = 114
char = e;code = 101
char = p;code = 112
char = r;code = 114
char = e;code = 101
char = s;code = 115
char = e;code = 101
char = n;code = 110
char = t;code = 116
char = s;code = 115
char = ;code = 32
char = a;code = 97
char = ;code = 32
char = v;code = 118
char = a;code = 97
char = l;code = 108
char = u;code = 117
char = a;code = 97
char = b;code = 98
char = l;code = 108
char = e;code = 101
char = ;code = 32
char = a;code = 97
char = r;code = 114
char = c;code = 99
char = h;code = 104
char = i;code = 105
char = v;code = 118
char = a;code = 97
char = l;code = 108
char = ;code = 32
char = s;code = 115
char = o;code = 111
char = u;code = 117
char = r;code = 114
char = c;code = 99
char = e;code = 101
char = ;code = 32
char = o;code = 111
char = f;code = 102
char = ;code = 32
char = D;code = 68
char = N;code = 78
char = A;code = 65
char = .;code = 46
char = ;code = 32
char = T;code = 84
char = h;code = 104
char = e;code = 101
char = r;code = 114
char = e;code = 101
char = f;code = 102
char = o;code = 111
char = r;code = 114
char = e;code = 101
char = ,;code = 44
char = ;code = 32
char = w;code = 119
char = e;code = 101
char = ;code = 32
char = s;code = 115
char = t;code = 116
char = u;code = 117
char = d;code = 100
char = i;code = 105
char = e;code = 101
char = d;code = 100
char = ;code = 32
char = 1;code = 49
char = 5;code = 53
char = 2;code = 50
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char = p;code = 112
char = a;code = 97
char = r;code = 114
char = a;code = 97
char = f;code = 102
char = f;code = 102
char = i;code = 105
char = n;code = 110
char = -;code = 45
char = e;code = 101
char = m;code = 109
char = b;code = 98
char = e;code = 101
char = d;code = 100
char = d;code = 100
char = e;code = 101
char = d;code = 100
char = ;code = 32
char = t;code = 116
char = r;code = 114
char = e;code = 101
char = p;code = 112
char = h;code = 104
char = i;code = 105
char = n;code = 110
char = e;code = 101
char = s;code = 115
char = ;code = 32
char = w;code = 119
char = i;code = 105
char = t;code = 116
char = h;code = 104
char = ;code = 32
char = C;code = 67
char = M;code = 77
char = P;code = 80
char = D;code = 68
char = ;code = 32
char = a;code = 97
char = n;code = 110
char = d;code = 100
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char = r;code = 114
char = e;code = 101
char = l;code = 108
char = a;code = 97
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char = e;code = 101
char = d;code = 100
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char = d;code = 100
char = i;code = 105
char = s;code = 115
char = o;code = 111
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char = d;code = 100
char = e;code = 101
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char = s;code = 115
char = ;code = 32
char = f;code = 102
char = o;code = 111
char = r;code = 114
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char = t;code = 116
char = h;code = 104
char = e;code = 101
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char = e;code = 101
char = s;code = 115
char = e;code = 101
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char = c;code = 99
char = e;code = 101
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char = o;code = 111
char = f;code = 102
char = ;code = 32
char = t;code = 116
char = h;code = 104
char = e;code = 101
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char = V;code = 86
char = 6;code = 54
char = 1;code = 49
char = 7;code = 55
char = F;code = 70
char = ;code = 32
char = m;code = 109
char = u;code = 117
char = t;code = 116
char = a;code = 97
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char = i;code = 105
char = o;code = 111
char = n;code = 110
char = ,;code = 44
char = ;code = 32
char = u;code = 117
char = s;code = 115
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char = n;code = 110
char = g;code = 103
char = ;code = 32
char = b;code = 98
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char = h;code = 104
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char = a;code = 97
char = l;code = 108
char = l;code = 108
char = e;code = 101
char = l;code = 108
char = e;code = 101
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char = s;code = 115
char = p;code = 112
char = e;code = 101
char = c;code = 99
char = i;code = 105
char = f;code = 102
char = i;code = 105
char = c;code = 99
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char = o;code = 111
char = l;code = 108
char = y;code = 121
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char = e;code = 101
char = r;code = 114
char = a;code = 97
char = s;code = 115
char = e;code = 101
char = ;code = 32
char = c;code = 99
char = h;code = 104
char = a;code = 97
char = i;code = 105
char = n;code = 110
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char = r;code = 114
char = e;code = 101
char = a;code = 97
char = c;code = 99
char = t;code = 116
char = i;code = 105
char = o;code = 111
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char = ;code = 32
char = (;code = 40
char = P;code = 80
char = C;code = 67
char = R;code = 82
char = );code = 41
char = ;code = 32
char = a;code = 97
char = n;code = 110
char = d;code = 100
char = ;code = 32
char = n;code = 110
char = e;code = 101
char = s;code = 115
char = t;code = 116
char = e;code = 101
char = d;code = 100
char = ;code = 32
char = P;code = 80
char = C;code = 67
char = R;code = 82
char = ;code = 32
char = w;code = 119
char = i;code = 105
char = t;code = 116
char = h;code = 104
char = ;code = 32
char = s;code = 115
char = u;code = 117
char = b;code = 98
char = s;code = 115
char = e;code = 101
char = q;code = 113
char = u;code = 117
char = e;code = 101
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char = d;code = 100
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char = g;code = 103
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char = s;code = 115
char = t;code = 116
char = i;code = 105
char = o;code = 111
char = n;code = 110
char = ;code = 32
char = w;code = 119
char = i;code = 105
char = t;code = 116
char = h;code = 104
char = ;code = 32
char = B;code = 66
char = s;code = 115
char = a;code = 97
char = X;code = 88
char = I;code = 73
char = .;code = 46
char = ;code = 32
char = O;code = 79
char = n;code = 110
char = l;code = 108
char = y;code = 121
char = ;code = 32
char = 6;code = 54
char = ;code = 32
char = o;code = 111
char = f;code = 102
char = ;code = 32
char = 1;code = 49
char = 5;code = 53
char = 2;code = 50
char = ;code = 32
char = (;code = 40
char = 4;code = 52
char = %;code = 37
char = );code = 41
char = ;code = 32
char = s;code = 115
char = a;code = 97
char = m;code = 109
char = p;code = 112
char = l;code = 108
char = e;code = 101
char = s;code = 115
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char = w;code = 119
char = e;code = 101
char = r;code = 114
char = e;code = 101
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char = n;code = 110
char = o;code = 111
char = t;code = 116
char = ;code = 32
char = e;code = 101
char = v;code = 118
char = a;code = 97
char = l;code = 108
char = u;code = 117
char = a;code = 97
char = b;code = 98
char = l;code = 108
char = e;code = 101
char = ;code = 32
char = b;code = 98
char = e;code = 101
char = c;code = 99
char = a;code = 97
char = u;code = 117
char = s;code = 115
char = e;code = 101
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char = o;code = 111
char = f;code = 102
char = ;code = 32
char = p;code = 112
char = o;code = 111
char = o;code = 111
char = r;code = 114
char = ;code = 32
char = D;code = 68
char = N;code = 78
char = A;code = 65
char = ;code = 32
char = q;code = 113
char = u;code = 117
char = a;code = 97
char = l;code = 108
char = i;code = 105
char = t;code = 116
char = y;code = 121
char = .;code = 46
char = ;code = 32
char = T;code = 84
char = h;code = 104
char = e;code = 101
char = ;code = 32
char = V;code = 86
char = 6;code = 54
char = 1;code = 49
char = 7;code = 55
char = F;code = 70
char = ;code = 32
char = m;code = 109
char = u;code = 117
char = t;code = 116
char = a;code = 97
char = t;code = 116
char = i;code = 105
char = o;code = 111
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char = ;code = 32
char = w;code = 119
char = a;code = 97
char = s;code = 115
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char = d;code = 100
char = e;code = 101
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char = e;code = 101
char = c;code = 99
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char = e;code = 101
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char = i;code = 105
char = n;code = 110
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char = 2;code = 50
char = 7;code = 55
char = ;code = 32
char = o;code = 111
char = f;code = 102
char = ;code = 32
char = 2;code = 50
char = 8;code = 56
char = ;code = 32
char = (;code = 40
char = 9;code = 57
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char = %;code = 37
char = );code = 41
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char = c;code = 99
char = a;code = 97
char = s;code = 115
char = e;code = 101
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char = f;code = 102
char = ;code = 32
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char = l;code = 108
char = y;code = 121
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char = e;code = 101
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char = i;code = 105
char = a;code = 97
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char = v;code = 118
char = e;code = 101
char = r;code = 114
char = a;code = 97
char = ,;code = 44
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char = 1;code = 49
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char = ;code = 32
char = o;code = 111
char = f;code = 102
char = ;code = 32
char = 2;code = 50
char = 3;code = 51
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char = (;code = 40
char = 7;code = 55
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char = %;code = 37
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char = c;code = 99
char = a;code = 97
char = s;code = 115
char = e;code = 101
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char = o;code = 111
char = f;code = 102
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char = e;code = 101
char = s;code = 115
char = s;code = 115
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char = t;code = 116
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char = a;code = 97
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char = ;code = 32
char = t;code = 116
char = h;code = 104
char = r;code = 114
char = o;code = 111
char = m;code = 109
char = b;code = 98
char = o;code = 111
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char = y;code = 121
char = t;code = 116
char = h;code = 104
char = e;code = 101
char = m;code = 109
char = i;code = 105
char = a;code = 97
char = ,;code = 44
char = ;code = 32
char = 2;code = 50
char = 8;code = 56
char = ;code = 32
char = o;code = 111
char = f;code = 102
char = ;code = 32
char = 4;code = 52
char = 5;code = 53
char = ;code = 32
char = (;code = 40
char = 6;code = 54
char = 2;code = 50
char = %;code = 37
char = );code = 41
char = ;code = 32
char = c;code = 99
char = a;code = 97
char = s;code = 115
char = e;code = 101
char = s;code = 115
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char = o;code = 111
char = f;code = 102
char = ;code = 32
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char = r;code = 114
char = o;code = 111
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char = i;code = 105
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char = i;code = 105
char = d;code = 100
char = i;code = 105
char = o;code = 111
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char = a;code = 97
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char = i;code = 105
char = c;code = 99
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char = y;code = 121
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char = i;code = 105
char = b;code = 98
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char = s;code = 115
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char = s;code = 115
char = ,;code = 44
char = ;code = 32
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char = x;code = 120
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char = f;code = 102
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char = e;code = 101
char = i;code = 105
char = g;code = 103
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char = t;code = 116
char = ;code = 32
char = (;code = 40
char = 7;code = 55
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char = %;code = 37
char = );code = 41
char = ;code = 32
char = c;code = 99
char = a;code = 97
char = s;code = 115
char = e;code = 101
char = s;code = 115
char = ;code = 32
char = o;code = 111
char = f;code = 102
char = ;code = 32
char = C;code = 67
char = M;code = 77
char = P;code = 80
char = D;code = 68
char = ;code = 32
char = u;code = 117
char = n;code = 110
char = c;code = 99
char = l;code = 108
char = a;code = 97
char = s;code = 115
char = s;code = 115
char = i;code = 105
char = f;code = 102
char = i;code = 105
char = e;code = 101
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char = ,;code = 44
char = ;code = 32
char = a;code = 97
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char = ;code = 32
char = t;code = 116
char = w;code = 119
char = o;code = 111
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char = o;code = 111
char = f;code = 102
char = ;code = 32
char = f;code = 102
char = o;code = 111
char = u;code = 117
char = r;code = 114
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char = (;code = 40
char = 5;code = 53
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char = %;code = 37
char = );code = 41
char = ;code = 32
char = c;code = 99
char = a;code = 97
char = s;code = 115
char = e;code = 101
char = s;code = 115
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char = o;code = 111
char = f;code = 102
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char = m;code = 109
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char = e;code = 101
char = l;code = 108
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char = d;code = 100
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char = p;code = 112
char = l;code = 108
char = a;code = 97
char = s;code = 115
char = t;code = 116
char = i;code = 105
char = c;code = 99
char = /;code = 47
char = m;code = 109
char = y;code = 121
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char = l;code = 108
char = o;code = 111
char = p;code = 112
char = r;code = 114
char = o;code = 111
char = l;code = 108
char = i;code = 105
char = f;code = 102
char = e;code = 101
char = r;code = 114
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result sql = The discovery of the activating V617F mutation in the JAK2 tyrosine kinase in a high proportion of patients with Ph- chronic myeloproliferative diseases (CMPD) represents a diagnostic breakthrough for these disorders. Trephine bone marrow biopsy is an essential part of the diagnostic workup of CMPD and represents a valuable archival source of DNA. Therefore, we studied 152 paraffin-embedded trephines with CMPD and related disorders for the presence of the V617F mutation, using both allele-specific polymerase chain reaction (PCR) and nested PCR with subsequent digestion with BsaXI. Only 6 of 152 (4%) samples were not evaluable because of poor DNA quality. The V617F mutation was detected in 27 of 28 (96%) cases of polycythemia vera, 17 of 23 (74%) cases of essential thrombocythemia, 28 of 45 (62%) cases of chronic idiopathic myelofibrosis, six of eight (75%) cases of CMPD unclassified, and two of four (50%) cases of myelodysplastic/myeloproliferative syndrome. Ph+ chronic myelogenous leukemia (four cases), reactive (secondary) erythrocytosis (14 cases), and thrombocytosis (one case) as well as normal controls (19 cases) all lacked the V617F mutation. Based on results of BsaXI digestion and sequencing, 24 of 54 (44%) evaluable V617F+ cases were considered homozygously mutated. Thus, detection of the V617F JAK2 mutation is feasible in paraffin-embedded trephine biopsies and represents a major advance in the diagnostic evaluation of CMPD.
Publication: J Mol Diagn 2006 Jul ;8(3)::299-304.
Publication Date: 2006 Jul
Study Author(s): Horn, Thomas;Kremer, Marcus;Dechow, Tobias;Pfeifer, Walther M;Geist, Birgit;Perker, Michael;Duyster, Justus;Quintanilla-Martinez, Leticia;Fend, Falko;
Institution: Institute of Pathology, Technical University Munich, Ismaninger Str. 22, 81675 Munich, Germany.
Shortcut link to this study:
Publication Date: 2006 Jul
Study Author(s): Horn, Thomas;Kremer, Marcus;Dechow, Tobias;Pfeifer, Walther M;Geist, Birgit;Perker, Michael;Duyster, Justus;Quintanilla-Martinez, Leticia;Fend, Falko;
Institution: Institute of Pathology, Technical University Munich, Ismaninger Str. 22, 81675 Munich, Germany.
Shortcut link to this study:
The discovery of the activating V617F mutation in the JAK2 tyrosine kinase in a high proportion of patients with Ph- chronic myeloproliferative diseases (CMPD) represents a diagnostic breakthrough for these disorders. Trephine bone marrow biopsy is an essential part of the diagnostic workup of CMPD and represents a valuable archival source of DNA. Therefore, we studied 152 paraffin-embedded trephines with CMPD and related disorders for the presence of the V617F mutation, using both allele-specific polymerase chain reaction (PCR) and nested PCR with subsequent digestion with BsaXI. Only 6 of 152 (4%) samples were not evaluable because of poor DNA quality. The V617F mutation was detected in 27 of 28 (96%) cases of polycythemia vera, 17 of 23 (74%) cases of essential thrombocythemia, 28 of 45 (62%) cases of chronic idiopathic myelofibrosis, six of eight (75%) cases of CMPD unclassified, and two of four (50%) cases of myelodysplastic/myeloproliferative syndrome. Ph+ chronic myelogenous leukemia (four cases), reactive (secondary) erythrocytosis (14 cases), and thrombocytosis (one case) as well as normal controls (19 cases) all lacked the V617F mutation. Based on results of BsaXI digestion and sequencing, 24 of 54 (44%) evaluable V617F+ cases were considered homozygously mutated. Thus, detection of the V617F JAK2 mutation is feasible in paraffin-embedded trephine biopsies and represents a major advance in the diagnostic evaluation of CMPD.
PMID: 16825501
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