Dentin dysplasia type I.

This paper describes a rare case of genetically determined dentin dysplasia type Iin 26-year-old male patient. The paper highlights anatomical and radiologicalaspects of dental abnormalities and emphasizes the significance of the educationof both general practitioners and paediatricians as regards referring patients withdiagnosed dentin dysplasia for a multi-specialty therapy.

AML multi-gene panel testing: A review and comparison of two gene panels.

BACKGROUND/OBJECTIVE: Risk adapted therapy is standard practice in Acute Myeloid Leukemia (AML). A common diagnostic approach involves focusing on a three gene panel (CEPBA, FLT3, and NPM1). However, a complete representation of prognostic and predictive factors in AML necessitates an expanded series of genes, due to the dynamic interactions present between concurrent mutations. Hence, the current study aims to describe the benefits of an expanded risk profile in an unselected cohort of AML cases. METHODS: The genomes of 11 randomly selected patients with AML were sequenced using next generation sequencing. A narrow three gene panel and broader 50 gene panel were contrasted. RESULTS: The expanded gene panel detected one additional pathogenic mutation in five patients and two pathogenic mutations in two patients, resulting in a change in their risk profile. Only 5/11 (45%) of AML patients demonstrated a pathogenic mutation on the 3 gene profile, however all patients had at least one detectable pathogenic mutation on the broader gene panel. The detection of a concurrent mutation by the expanded gene panel reversed the favorable risk profile for three patients. CONCLUSIONS: Detection of concurrent mutations enables rejection or validation of prognoses associated with NPM1 or CEBPA mutations. DNMT3a and TP53 mutations in AML have a pertinent prognostic and therapeutic value for patients and their addition enhances the current three gene panel. In our small study, the three gene panel changed the prognosis for three patients (3/11, 27%) with the detection of commonly occurring AML mutations.

Hematopoietic cytokines as tumor markers in breast malignancies. A multivariate analysis with ROC curve in breast cancer patients.

PURPOSE: Plasma levels of selected hematopoietic cytokines: interleukin 3 ( IL-3), stem cell factor (SCF), granulocyte-macrophage colony-stimulating factor (GM-CSF), granulocyte colony-stimulating factor (G-CSF) and macrophage colony-stimulating factor (M-CSF), and the tumor marker carcinoma antigen 15-3 (CA 15-3) in breast cancer (BC) patients were investigated and compared to control groups: benign breast tumor patients and healthy subjects. MATERIAL/METHODS: Cytokine levels were determined by ELISA, CA 15-3 - using the CMIA method. RESULTS: A significant differences in the concentration of cytokines (with the exception of IL-3) and CA15-3 between the groups of BC patients, benign breast tumor patients and the healthy controls have been demonstrated. M-CSF has demonstrated higher or equal to CA 15-3 values of diagnostic sensitivity, specificity and the predictive values of positive and negative test results. The M-CSF area under the ROC curve (AUC) was the largest from all the cytokines tested and marginally lower than the AUC of CA 15-3. CONCLUSION: These findings suggest the usefulness of M-CSF in diagnosing breast cancer, especially when discriminating between cancer and non-carcinoma lesions.

[Hematopoietic cytokines as tumor markers]. / Cytokiny hematopoetyczne jako markery choroby nowotworowej.

Serum tumour markers may be helpful in early diagnosis of cancer, in the initial assessment of the extent of the disease, and in monitoring of the tumour growth or tumour volume reduction, once cancer has been diagnosed and treatment started. Recent studies have focused on a new family of markers--hematopoietic cytokines.