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A description of a patient with a rare form of Camurati-Engelmann Disease (CED), also known as progressive diaphyseal dysplasia, manifested by gait disturbance, pain in the limbs and muscle weakness is presented. It is only ca. 300+ patients with this disease have been described worldwide to date. It was discovered in various ethnic groups regardless of gender. A clinical case observation of this disease with molecular genetic confirmation of the diagnosis is presented for the first time in a Russian language scientific periodical. Establishing an accurate diagnosis in the described observation became possible only thanks to the use of a modern molecular genetic method, Next-generation sequencing (NGS). The clinical case observed in the article showed non-specificity of symptoms in this disease. It would be impossible to establish an accurate diagnosis without the use of top notch, modern genetic technologies in this case. The absence of specific symptoms coupled with the late manifestation of the disease suggest that not all of the cases of this disease are detected and diagnosed.

More than 275 million people in the world are carriers of a heterozygous mutation of the CFTR gene, associated with cystic fibrosis, the most common autosomal recessive disease among Caucasians. Some recent studies assessed the association between carriers of CFTR variants and some pathologies, including cancer risk. The aim of this study is to analyze the landscape of germline pathogenic heterozygous CFTR variants in patients with diagnosed malignant neoplasms. For the first time in Russia, we evaluated the frequency of CFTR pathogenic variants by whole-genome sequencing in 1800 patients with cancer and compared this with frequencies of CFTR variants in the control group (1825 people) adjusted for age and 10,000 healthy individuals. In the issue, 47 out of 1800 patients (2.6%) were carriers of CFTR pathogenic genetic variants: 0.028 (42/1525) (2.8%) among breast cancer patients, 0.017 (3/181) (1.7%) among colorectal cancer patients and 0.021 (2/94) (2.1%) among ovarian cancer patients. Pathogenic CFTR variants were found in 52/1825 cases (2.85%) in the control group and 221 (2.21%) in 10,000 healthy individuals. Based on the results of the comparison, there was no significant difference in the frequency and distribution of pathogenic variants of the CFTR gene, which is probably due to the study limitations. Obviously, additional studies are needed to assess the clinical significance of the heterozygous carriage of CFTR pathogenic variants in the development of various pathologies in the future, particularly cancer.