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We investigated the prevalence of the coagulation factor V gene G1691A mutation in 64 patients with Behçet's disease (BD) and in 107 apparently healthy individuals. The mutation was present in the heterozygous state in 37.5% of the patients with a history of deep vein thrombosis (12/32) and in 9.4% of the patients without any thrombotic event (3/32). Eleven healthy individuals were also heterozygous for the mutation (10.3%). The prevalence of the mutation in BD patients with and without thrombosis was significantly different (P = 0.0079). We conclude that the factor V gene mutation may play a major role in the development of venous thrombosis in BD.

Inappropriate expression of the c-erb B2 gene has been associated with aggressive tumor behavior in breast cancer. In this study the c-erb B2 amplification was investigated both in the tumors and benign breast tissue of the patients by competitive PCR. The technique combines the sensitivity and speed of PCR with coamplification of a single copy reference gene to achieve quantitative results. Gene copy numbers in excess of 3 copies were observed in tumors of 7 patients but not in the normal tissue samples. We conclude that the increase in the gene copy numbers is a result of the tumorigenic changes occurring in the cancer cell.

A 7-year-old girl with neurofibromatosis type I (NF1) was diagnosed to have monosomy 7 myeloproliferative disease (Mo 7-MPD). Of the benign and malignant tumors that are encountered with increased incidence in NF1, those originating from the neural crest are frequent. However, tumors that do not originate from the neural crest may also be seen and among these, myeloid leukemias are prominent. Studies on NF1 patients with Mo 7-MPD and juvenile chronic myeloid leukemia (JCML) have suggested the role of the NF1 gene in the leukemogenesis. The relationship between monosomy 7 and hematological malignancies is already known. These findings are in agreement with the multi-step development theory of cancer. In addition, our case is one of the very rare NF1 cases having father to daughter inheritance with a myeloid malignancy. We believe that cytogenetic and molecular genetic studies will contribute to further understanding of leukemogenesis.