Concomitant MDS with isolated 5q deletion and MGUS: case report and review of molecular aspects

Patients with monoclonal gammopathy of undetermined significance (MGUS) have a higher risk for the development of concomitant primary cancers such as multiple myeloma (MM) and myelodysplastic syndrome (MDS). We report the case of patient initially suffering from MGUS of the IgG lambda subtype for more than 10 yr, which evolved to MM and MDS with deletion (5q) with severe pancytopenia. Due to pancytopenia, he received dose‐reduced treatment with lenalidomide and dexamethasone. He achieved an ongoing transfusion independency after about 1 month of treatment. Bone marrow taken 14 months after start of treatment showed a complete cytogenetic response of the del(5q) clone and a plasma cell infiltration below 5%. In contrast to the development of MM in MGUS patients, the subsequent occurrence of MDS after diagnosis of MGUS is infrequent. Moreover, the biological association of MDS with MGUS is not sufficiently understood, but the non‐treatment‐related occurrence supports the pathogenetic role of pre‐existing alterations of stem cells. Here, we summarize data on concomitant MDS and MGUS/MM with particular emphasis on molecular aspects.     

Sociodemographic factors associated with the dental health of persons with diabetes in France

This paper describes and compares the oral health status among people with and without diabetes in France, and analyzes the related socioeconomic factors. The study is based on data from the cross‐sectional national health survey conducted in France from 2002 to 2003, which included 19,231 people over 35 years of age, among whom 1,111 reported having diabetes. Data were collected through interviews that inquired about oral health status and use of dental care services, income, educational level, health insurance, place of residence, and birthplace. The prevalence of oral health problems was higher among subjects who had diabetes, compared with those who were nondiabetic (16.4% vs. 13.4%). Dental care utilization during the survey period was reported to be 8.7% among subjects who were diabetic versus 12.9% among those who were nondiabetic. The subjects with diabetes were more likely to have dental problems (OR = 1.47, CI = 1.03–2.08) and wear removable dentures (partial and complete) when their income was lower (OR = 2.17, CI = 1.52–3.10). There were social inequalities in oral health among people with diabetes in France according to income level.     

HbA1c‐based diabetes diagnosis among patients with glucokinase mutation (GCK‐MODY) is affected by a genetic variant of glucose‐6‐phosphatase (G6PC2)

Aims Genetic variation at the rs560887 locus of the glucose‐6‐phosphatase, catalytic 2 gene (G6PC2) is known to affect regulation of fasting glycaemia. We determined the rs560887 genotype of patients with monogenic diabetes and glucokinase gene mutations (GCK‐MODY) and correlated the genotypes with HbA_1c levels. Methods Patients from families with GCK‐MODY were recruited from two large cohorts from Poland (n = 128) and the Czech Republic (n = 154). Genotypes at the rs560887 polymorphic site in G6PC2 were examined using real‐time quantitative polymerase chain reaction. The effect of rs560887 genotype on age at diagnosis of GCK‐MODY and initial HbA_1c levels were evaluated separately within both cohorts. Following that, a meta‐analysis of rs560887 genotype–HbA_1c associations of both Polish and Czech cohorts was performed to confirm homogeneity of findings and validate cohort‐specific results. Results GG homozygosity at rs560887 was associated with marginally elevated HbA_1c levels (P = 0.07 in both cohorts). The effects observed in both groups were very homogeneous (Q = 0.18; P = 0.68). Meta‐analysis showed that GG homozygosity at rs560887 was associated with mean HbA_1c levels higher by 2.4 mmol/mol (0.24%), 95% CI 0.5–4.4 mmol/mol (0.05–0.44%) than in individuals with other genotypes. Additionally, meta‐analysis of both cohorts showed that GG homozygous individuals had higher odds of reaching the 48 mmol/mol (6.5%) diagnostic threshold of diabetes; (odds ratio 1.90; 95% CI 1.07–3.36; P = 0.03). No such effects were observed for age at diagnosis of diabetes. Conclusions Variation at the rs560887 locus of G6PC2 is associated with worse glycated haemoglobin levels in individuals with GCK mutations; GG homozygotes are more likely to meet diagnostic criteria for diabetes based on HbA_1c level.