Genomic and functional overlap between somatic and germline chromosomal rearrangements.

Genomic rearrangements are a common cause of human congenital abnormalities. However, their origin and consequences are poorly understood. We performed molecular analysis of two patients with congenital disease who carried de novo genomic rearrangements.

Structural genome variations in individuals with childhood cancer and tumour predisposition syndromes.

Background: Previous studies have shown a high prevalence of syndromes in children with cancer. We described four patterns of co-occurring morphological abnormalities indicating new tumour predisposition syndromes. These patterns were named after their key-abnormalities: blepharophimosis (BP), epicanthal folds (EF), asymmetric lower limbs (LLA) and Sydney creases (SC) pattern.

22q11.2 Deletion Syndrome is under-recognised in adult patients with tetralogy of Fallot and pulmonary atresia.

Background: Three quarters of patients with 22q11.2 Deletion Syndrome (22q11.2DS) have congenital heart disease (CHD), typically conotruncal heart defects.

Influence of previous tumours on survival in early (Tis-T1) glottic carcinoma.

Objective: To investigate the influence of previous tumours on overall survival in patients with early glottic carcinoma.

Design: Retrospective, population-based cohort study.

Setting: Cancer registration area in the west Netherlands.

Expression pattern of the septin gene family in acute myeloid leukemias with and without MLL-SEPT fusion genes.

Septins are proteins associated with crucial steps in cell division and cellular integrity. In humans, 14 septin genes have been identified, of which five (SEPT2, SEPT5, SEPT6, SEPT9, and SEPT11) are known to participate in reciprocal translocations with the MLL gene in myeloid neoplasias. We have recently shown a significant down-regulation of both SEPT2 and MLL in myeloid neoplasias with the MLL-SEPT2 fusion gene.

Both SEPT2 and MLL are down-regulated in MLL-SEPT2 therapy-related myeloid neoplasia.

Background: A relevant role of septins in leukemogenesis has been uncovered by their involvement as fusion partners in MLL-related leukemia. Recently, we have established the MLL-SEPT2 gene fusion as the molecular abnormality subjacent to the translocation t(2;11)(q37;q23) in therapy-related acute myeloid leukemia. In this work we quantified MLL and SEPT2 gene expression in 58 acute myeloid leukemia patients selected to represent the major AML genetic subgroups, as well as in all three cases of MLL-SEPT2-associated myeloid neoplasms so far described in the literature.

Long-term follow-up of a population based cohort with monoclonal proteinaemia.

Prospective studies on the risk of malignant transformation in patients with monoclonal gammopathy of undetermined significance (MGUS) and factors predictive of survival are lacking. The Dutch Comprehensive Cancer Centre West, comprising 1.6 million inhabitants, initiated a prospective hospital-based cohort study on 1464 patients with newly diagnosed M-proteinaemia, median age 73 (17-103) years.

Outcome of radiotherapy in T1 glottic carcinoma: a population-based study.

We evaluated the radiation outcome and prognostic factors in a population-based study of early (T1N0M0) glottic carcinoma. Survival parameters and prognostic factors were evaluated by uni- and multivariate analysis in 316 consecutive irradiated patients with T1 glottic carcinoma in the Comprehensive Cancer Center West region of the western Netherlands. Median follow-up was 70 months (range 1-190 months).

Translocation (2;11)(q37;q23) in therapy-related myelodysplastic syndrome after treatment for acute promyelocytic leukemia.

Treatment of acute promyelocytic leukemia (APL) with a combination of anthracycline-based chemotherapy and all-trans retinoic acid (ATRA) leads to very high rates of complete remission and survival. There are only a limited number of publications on the development of therapy-related myelodysplastic syndrome (MDS) or acute myeloid leukemia during follow-up of APL. Although drugs targeting at DNA-topoisomerase II characteristically induce translocations involving 11q23, this was seldom seen in patients treated for APL.

Second malignant neoplasia in early (TIS-T1) glottic carcinoma.

Background: We performed a population-based study to determine the incidence and patterns of second malignant neoplasia (SMN) in early glottic carcinoma.

Methods: All patients diagnosed with Tis-T1 glottic carcinoma in the southwest of the Netherlands between 1982 and 1993 (359) were included. Sources of the data were patient charts and the regional cancer registry.

Treatment and survival of patients with thyroid lymphoma: a population-based study with clinical and pathologic reviews.

Purpose: The purpose of this study was to determine the incidence, clinical and histologic features, and patterns of outcome of thyroid lymphomas.

Patients And Methods: A retrospective population-based survey of 38 patients with thyroid lymphoma was taken. Median age was 69 years (range, 33-87 years), with a 1:4 female predominance.