Background/Objectives: Metastatic colorectal cancer remains a fatal disease, with a 5-year survival rate lower than 15%. The most common metastatic sites are the lungs and the liver, while skin metastases are very rare and often indicate a poor prognosis with a lower survival rate. Methods. Herein, we present the clinical case of a 62-year-old female patient with rectal cancer metastases to the skin of the anogenital and abdominal regions, diagnosed 2 years after completion of treatment of the underlying disease. Results: Histological examination of the skin lesions revealed adenocarcinoma, and expression of the same immunohistochemical markers was also found in the primary tumor and in the cutaneous metastases. However, next-generation sequencing demonstrated differences in the mutational profiles of the primary tumor and metastasis to the skin. Somatic mutations in the APC, TP53, and PTPN11 genes were revealed in primary rectal adenocarcinoma, but another pathogenic TP53 mutation and a frameshift variant in the DYNC1I1 gene were found in cutaneous metastases. The patient underwent several courses of FOLFOX6 chemotherapy in combination with bevacizumab, but the treatment was unsuccessful. An analysis of 50 clinical cases from the literature concerning various manifestations of cutaneous metastases of rectal cancer showed a median survival of 8.5 months from the time of detection of the skin lesions. Conclusions: In this regard, careful skin examination of patients with rectal cancer and timely detection of cutaneous metastases are essential steps in the follow-up of patients who have undergone treatment of the primary tumor.

Background/Objectives: Cowden syndrome (or PTEN hamartoma tumor syndrome) (CS/PHTS) belongs to a group of inherited disorders associated with the development of multiple hamartomas. The clinical presentation of patients may include dysmorphic facial features, macrocephaly, developmental delay, and multiple benign and malignant tumors of various localizations. At the same time, only thyroid cancer is thought to have an increased risk in childhood. Skin lesions in CS/PHTS occur in 90–100% of patients and include multiple tricholemmoma, papilloma, acral keratosis, pigmentation changes, as well as rarer forms like vascular malformations, fibromas, neuromas, melanoma, and basal cell carcinoma. Methods: Next-generation sequencing and Sanger sequencing were used to search for PTEN genetic variants. A histological and immunohistochemical examination of tumor biopsies and skin lesions was performed. Results: A total of 13 patients from six families with CS/PHTS, including 10 children, were described. Seven pediatric patients belonged to families with paternal transmission of the PTEN pathogenic variants, while three others were de novo cases. Atypical manifestations in CS/PHTS were diffuse large B-cell lymphoma in one adult, a renal cell carcinoma, three germ cell tumors, and a linear epidermal nevus in pediatric patients. A literature review of the identified pathogenic variants in the PTEN gene was performed, assessing their clinical significance and analyzing the traditional and modified diagnostic criteria as applied to the pediatric population. Conclusions: Taking into account the low incidence of CS/PHTS, the data presented significantly expand our current understanding of this disease and guide physicians to consider a wider range of possible malignant neoplasms in pediatric patients with CS/PHTS.

European Organization of Research and Treatment of Cancer (EORTC) Bone Metastases (BM22), developed by the Quality of Life Assessment Group, is a specialized module of the quality of life questionnaire EORTC QLQ-C30, assessing the quality of life in patients with bone tumors. The aim of the study is to develop its Russian version. The study included a sample of 139 patients with bone tumors — inpatients of N.N. Blokhin Cancer Research Center. The scale has a good convergent validity and internal consistency (0,871), factor analysis confirmed the structure of the scale and its compliance with the original model. The results revealed significant decrease in quality of life due to patients’ focus on pain and its severity. We conclude by drawing out the main directions of psychological aid to patients with bone tumors.

Background. The standard treatment for giant-cell tumors of the bone includes radical surgery. However, specific anatomical location of the tumor and/or its spread may hinder its complete excision or result in poor functional outcomes. Currently, combination treatment that includes preoperative denosumab and surgery is preferable. It saves patients’ lives and improves their quality of life. Reduction of local recurrence rate by combination therapy for giant-cell tumors of the bone is being actively studied now.Objective – to analyze treatment outcomes of patients with giant-cell tumors of the bone, including those who received combination treatment that included preoperative therapy with denosumab followed by surgery.Materials and methods. This study included 277 patients with giant-cell tumors treated in N.N. Blokhin National Cancer Research Center between 2005 and 2020. The mean duration of follow-up was 56 months. Study participants were divided into two groups. Group 1 included patients who received surgical treatment alone (n = 212), whereas Group 2 comprised patients who received combination treatment (n = 65). Neoadjuvant therapy included subcutaneous denosumab 120 mg on days 1, 8, 15, and 28, then every 4 weeks until stable effect. There were two variants of surgical treatment: radical (removal by a single block or segmental resection with defect replacement, with or without fixation) and non-radical (excochleation or marginal resection with defect replacement, with or without fixation).Results. During treatment, patients in Group 2 had a significantly milder pain syndrome (assessed both using the visual analog scale for pain and Watkins scale) compared to Group 1. In case of radical surgery, the incidence of local recurrence was 12 % and 0 % in Groups 1 and 2, respectively; the difference was significant (р 0.05). Tumor location and volume of surgery played an important role in disease recurrence (р 0.05). The incidence of complications after radical surgery was 36.9 % and 12.5 % in Groups 1 and 2, respectively; the difference was significant (р 0.05). In addition to that, neoadjuvant therapy with denosumab substantially reduced the duration of surgery and blood loss in patients with challenging anatomical location of the tumor (р 0.05).Conclusion. Combination treatment for giant-cell tumors that includes neoadjuvant therapy with denosumab reduces the risk of recurrence, duration of surgery, blood loss, and the risk of postoperative complications. However, it is important to consider tumor location and the volume of surgery. Since the disease is quite rare, further study of long-term efficacy and safety of combination treatment for giant-cell tumors, including rare ones and those with challenging anatomical location, is necessary.

In this study we analyzed the quality of life in 62 patients (35.5 % of men and 64.5 % of women; mean age 55 years) who had tumor lesions in different parts of the spine and were treated in the Department of Vertebral Surgery, N.N. Blokhin Russian Cancer Research Center, Ministry of Health of Russia. We assessed the association between the quality of life and psychological characteristics of patients – coping strategies and personal resources. We used a general questionnaire for assessing patients’ quality of life (The Medical Outcomes Study Short Form 36 Items Health Survey) and special questionnaires for cancer patients (Quality of Life Questionnaire – Core 30, QLQ-C30), patients with tumor lesions to the spine (Spine Oncology Study Group Outcomes Questionnaire, SOSG OQ), and psychodiagnostic methods, such as Ways of Coping, Big Five, and Life-meaning Orientations. We have identified an association between the quality of life and all parameters of psychodiagnostic questionnaires, better quality of life correlated with more pronounced psychological characteristics reflecting the maturity of the individual (internality, activity, presence of meaningful goals, ability to seek social support, etc.). Lower personal maturity and poorer constructive coping strategies were associated with worse somatic symptoms and their impact on the quality of life.

Patients who face a stressful situation related to cancer and loss of a limb have not been thoroughly studied form a psychological perspective, what limits the possibilities of targeted psychological assistance and social rehabilitation. In this regard, the aim of the research was to study the clinical and psychological status, strategies and personal resources for coping with the stress of the disease, as well as the main parameters of the quality of life (QoL) of patients who underwent lower limb amputation due to cancer (group 1, n = 24, men — 62.5%, average age 47.25 ± 3.17), in comparison with patients amputated due to other somatic diseases not accompanied by an actual vital threat (group 2, n = 15, men — 93.3%, average age 59.67 ± 2.27), as well as with normative psychodiagnostic data. Methods of clinical and psychological diagnostics were used, including “Ways of Coping Questionnaire”, “Big V Questionnaire”, “Purpose in Life Test”, EORTC “Quality of Life of Cancer Patients Questionnaire” (QLQ-C30). It was found that functional capability (p<0.01), objective (p<0.001) and subjective (p<0.001) severity of pain syndrome, as well as employment (p=0.05) have the lowest indicators in group 1 compared with group 2; at the same time, the levels of QoL in both groups of patients do not differ and do not correspond the expert assessment, exceeding it; patients rate their cognitive and emotional activity most highly; the lowest, physical and role activity, and financial impact. In the structure of coping of group 1, the strategy “Seeking for social support” predominates; the values of the scales “Distancing” (p=0.05), “Escape–avoidance” (0.1<p<0.05), “Positive reappraisal” (p<0.05) are higher than in group 2, but lower than average normative values. In the personality of patients in group 1, “Conscientiousness” (p=0.01) and “Openness” (0.1<p<0.05) prevail in comparison with patients in group 2, as well as “Extraversion” (0.1<p<0.05), “Conscientiousness” (p<0.001) and “Emotional stability / Neuroticism” (p<0.05) — compared with the mean values of the test. The indicators of the scales “Meaning of life” (p<0.01), “Fullness of life” (p<0.01), “Life satisfaction” (p<0.01) in group 1 are higher than in group 2; patients’ internality is higher than in the control sample of men (0.1<p<0.05) and women (p<0.01). The results obtained can be used in the process of rehabilitation of orthopedic cancer patients.