A risk of essential thrombocythemia in carriers of constitutional CHEK2 gene mutations

Germline mutations of the CHEK2 gene have been reported in some myeloid and lymphoid malignancies, but their impact on development of essential thrombocythemia has not been studied. In 16 out of 106 (15.1%) consecutive patients, newly diagnosed with essential thrombocythemia, we found one of four analyzed CHEK2 mutations: I157T, 1100delC, IVS2+1G>A or del5395. They were associated with the increased risk of disease (OR=3.8; P=0.002). The median age at ET diagnosis among CHEK2+/JAK2V617F+ patients was seven years lower than that among CHEK2-/JAK2V617F+ (52 vs. 59 years; P=0.04), whereas there was no difference in the medians of hematologic parameters between these groups. The results obtained suggest that CHEK2 mutations could potentially contribute to the susceptibility to essential thrombocythemia. The germline inactivation of CHEK2, as it seems, has no direct impact on the development of disease, but it could cause disruption of cell cycle checkpoints and initiate or support the cancerogenic process of essential thrombocythemia at a younger age.     

EGFR mutation testing on cytological and histological samples in non-small cell lung cancer: a Polish,single institution study and systematic review of European incidence

The targeted treatment of advanced non-small-cell lung cancer (NSCLC) depends on confirmation of activating somatic EGFR mutation. The aim of the study was to evaluate the incidence of EGFR mutations in NSCLC detected in cytological and histological material and present literature review on European EGFR mutation incidence. 273 patients with confirmed NSCLC were entered into the study: 189 histological, paraffin-embedded materials, 12 fresh and 72 fixed cytological specimens. DNA was extracted from both types of material and the EGFR mutation in exons 18-21 was analyzed by direct sequencing. In addition the EGFR gene copy number in cases with sufficient histological material (110 patients) was evaluated by fluorescent in situ hybridization (FISH) technique. The percentage of EGFR somatic mutations was 10.62%. FISH positive results (amplification or high polysomy of EGFR gene) were identified in 33 patients (30.0%). The strongest clinicopathological correlation with the EGFR mutation was found for histological type (adenocarcinoma; p < 0.01), gender (females; p < 0.01) and FISH positive result (p < 0.05). This is the first, single institution study that estimates the EGFR mutation incidence in the Polish population. Cytological material recovered from fixed preparations and stained with hematoxylin and eosin showed DNA quality comparable to fresh tumor cells and histological samples.     

Elevation of pulmonary artery pressure as a complication of nilotinib therapy for chronic myeloid leukemia

We present the case of a 72-year-old male with chronic phase myeloid leukemia. Elevation of the pulmonary artery pressure due to nilotinib therapy was noted. This effect on pulmonary artery pressure was nilotinib dose dependent.     

Bone graft incorporation after revision hip arthroplasty in patients with rheumatoid arthritis, seventy eight revisions using bone allografts with or without metal reinforcements

Purpose

The aim of the study was to assess bone graft incorporation after revision hip arthroplasty in patients with rheumatoid arthritis (RA).

Methods

We report an acetabular reconstruction using impacted, morselized, frozen, radiation sterilized bone allografts in 71 patients suffering from RA. There were sixty-six women and five men at a mean age of 57.5 years. Reconstruction was performed in 78 revision total hip arthroplasties (THAs) for aseptic loosening of acetabular component. The mean follow-up was five years and four months. In 38 cases, a revision was done with use of reinforcement devices.

Results

In four revised hips (10 %) without reinforcement implants, resorption of the allografts was noticed. All Mueller rings and 50 % of unscrews cages (Link, Howmedica) were revised because of aseptic loosening and bone graft resorption. In all of 17 hips with the Burch-Schneider cage, no measurable migration or bone allografts resorption occurred. There were no major general complications.

Conclusions

Acetabular reconstruction with use of morselized, frozen, radiation sterilized bone allografts and the Burch-Schneider cage can be highly successful in managing massive deficiency of acetabular bone stock in revision hip arthroplasty in RA patients.     

Efficacy of concomitant and adjuvant temozolomide in glioblastoma treatment. A multicentre randomized study

Background and purposeThe common treatment in patients with newly diagnosed glioblastoma multiforme is the ultimately radical surgical removal of the tumour combined with radiotherapy. This study compared safety and efficacy of radiotherapy alone with radiotherapy combined with temozolomide (TMZ) given before, during, and after radiotherapy.Material and methodsThe patients operated on for glioblastoma multiforme during the first 21 postoperative days were randomly assigned to the group treated with radiotherapy alone (involved-field radiotherapy in 2 Gy fractions daily five times a week up to the total of 60 Gy over 6 weeks of treatment) or to the group treated with radiotherapy and TMZ, initially in the dose of 200 mg/m² during 5 postoperative days and after 23 days followed by 75 mg/m² of body surface area daily, 7 days a week (from the first to the last day of radiotherapy). On completion of radiotherapy, five complementary courses of TMZ were introduced (150–200 mg/m² for 5 days, repeated every 28 days). The primary outcome measure was overall survival.ResultsFifty-eight patients from 3 centres were included in the study. The mean age of patients was 55 years and all the patients underwent a surgical procedure of glioblastoma removal. The mean overall survival in the group treated with TMZ was 16.0 months, whereas in the group with radiotherapy alone the overall survival reached 12.5 months. 24-month survival reached 23% in patients treated with TMZ and 6.7% in those who received radiotherapy only. Haematological complications of third or fourth degree were present in 10% of patients treated with radiotherapy and TMZ.ConclusionsThe introduction of TMZ before, during and after radiotherapy for newly diagnosed glioblastoma multiforme gives clinically and statistically significant improvement of survival with unremarkably increased toxicity of the treatment.     

Embryonal tumor with abundant neuropil and true rosettes: an autopsy case-based update and review of the literature

Introduction

Embryonal tumor with abundant neuropil and true rosettes (ETANTR) is a rare subtype of primitive neuroectodermal tumors first reported in 2000. It is rare among the group of embryonal central nervous system tumors with approximately 50 reported cases. ETANTR has been suggested to be a separate entity among this group of tumors.

Case report

Herein, we present only the second autopsy case of ETANTR, which occurred in a 17-month-old boy, and was located in the brainstem. The tumor was inoperable, and despite chemotherapy, the child died 3 months after initial hospitalization. A brain only autopsy was performed.

Discussion

Neuropathological and neuroimaging examinations suggest ETANTR grew by expansion rather than invasion distorting anatomical structures of the posterior fossa. We suggest that the characteristic histopathological picture of the tumor is the result of multifocal and dispersed germinative activity surrounded by mature neuropil-like areas.

Conclusion

ETANTR is a pediatric tumor occurring in children under 4 with a significantly poor prognosis with more cases and research required to characterize this rare embryonal tumor.     

Optimisation of Shrinkage and Strength on Thick Plate Part Using Recycled LDPE Materials

Achieving good quality of products from plastic injection moulding processes is very challenging, since the process comprises many affecting parameters. Common defects such as warpage are hard to avoid, and the defective parts will eventually go to waste, leading to unnecessary costs to the manufacturer. The use of recycled material from postindustrial waste has been studied by a few researchers. However, the application of an optimisation method by which to optimise processing parameters to mould parts using recycled materials remains lacking. In this study, Response Surface Methodology (RSM) and Particle Swarm Optimisation (PSO) methods were conducted on thick plate parts moulded using virgin and recycled low-density polyethylene (LDPE) materials (100:0, 70:30, 60:40 and 50:50; virgin to recycle material ratios) to find the optimal input parameters for each of the material ratios. Shrinkage in the x and y directions increased in correlation with the recycled ratio, compared to virgin material. Meanwhile, the tensile strength of the thick plate part continued to decrease when the recycled ratio increased. R30 (70:30) had the optimum shrinkage in the x direction with respect to R0 (100:0) material where the shrinkage increased by 24.49% (RSM) and 33.20% (PSO). On the other hand, the shrinkage in the y direction for R30 material increased by 4.48% (RSM) and decreased by 2.67% (PSO), while the tensile strength of R30 (70:30) material decreased by 0.51% (RSM) and 2.68% (PSO) as compared to R0 (100:0) material. Validation tests indicated that the optimal setting of processing parameter suggested by PSO and RSM for R0 (100:0), R30 (70:30), R40 (60:40) and R50 (50:50) was less than 10%.     

Repair of a Cracked Historic Maryan Bell by Gas Welding

In this article, the range of works connected with the repair of a historical Maryan bell from 1639 are presented. The first attempts to repair damaged bells occurred in the 1930s in Poland. However, this process was stopped because of extensive technological difficulties. Welding and soldering-welding were the basic methods. There is one difference between these two methods—connecting surfaces are melted during the welding process but only heated until the melting temperature of the material added to the connection (that is the solder) during the soldering-welding process. It was important to heat the bell to the proper temperature during welding. Uneven heating causes the enlargement of existing cracks or the appearance of new ones, or even the complete destruction of the bell. Nowadays, a method of even heating using a special heating mat has been devised. Thanks to this method it is possible to control the heating and cooling process. The most important task during the whole operation of bell welding was obtaining the original sound. During this research, the chemical composition was examined to prepare a welding rod with a suitable chemical composition. After the repair process, an analysis of the sound of the bell was conducted. It was shown that the repair of bells is possible when correct thermal parameters are used. The most highly recommended technique for repairing bells is gas welding.