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Background Mutations in the BRCA1, BRCA2 and PALB2 genes are well-established risk factors for the development of breast and/or ovarian cancer. The frequency and spectrum of mutations in these genes has not yet been examined in the population of Southern Poland. Methods We examined the entire coding sequences of the BRCA1 and BRCA2 genes and genotyped a recurrent mutation of the PALB2 gene (c.509_510delGA) in 121 women with familial and/or early-onset breast or ovarian cancer from Southern Poland. Results A BRCA1 mutation was identified in 11 of 121 patients (9.1 %) and a BRCA2 mutation was identified in 10 of 121 patients (8.3 %). Two founder mutations of BRCA1 accounted for 91 % of all BRCA1 mutation carriers (c.5266dupC was identified in six patients and c.181 T > G was identified in four patients). Three of the seven different BRCA2 mutations were detected in two patients each (c.9371A > T, c.9403delC and c.1310_1313delAAGA). Three mutations have not been previously reported in the Polish population (BRCA1 c.3531delT, BRCA2 c.1310_1313delAAGA and BRCA2 c.9027delT). The recurrent PALB2 mutation c.509_510delGA was identified in two patients (1.7 %). Conclusions The standard panel of BRCA1 founder mutations is sufficiently sensitive for the identification of BRCA1 mutation carriers in Southern Poland. The BRCA2 mutations c.9371A > T and c.9403delC as well as the PALB2 mutation c.509_510delGA should be included in the testing panel for this population. Keywords: BRCA1, BRCA2, PALB2, Breast cancer, Ovarian cancer, Author(s): P. Wojcik[sup.1] , M. Jasiowka[sup.2] , E. Strycharz[sup.1] , M. Sobol[sup.1] , D. Hodorowicz-Zaniewska[sup.3] , P. Skotnicki[sup.4] , T. Byrski[sup.6] , P. Blecharz[sup.2] , E. Marczyk[sup.2] , I. Cedrych[sup.2] [...]

Background: To estimate the impact of oophorectomy and other treatments on the survival of breast cancer patients with a CHEK2 mutation., Methods: Women with Stage I-III breast cancer who were treated at 17 hospitals in Poland were tested for four founder mutations in the CHEK2 gene. 974 women (10%) were positive for a CHEK2 mutation. Control patients without a CHEK2 mutation were selected from a database of patients treated over the same time period. Information on treatments received and distant recurrences were retrieved from medical records. Treatments included chemotherapy, hormonal therapy (tamoxifen) and radiation therapy. Oophorectomies were performed for the treatment of breast cancer or for benign conditions. Dates of death were obtained from the Polish Vital Statistics Registry. Causes of death were determined by medical record review. Predictors of survival were determined using the Cox proportional hazards model., Results: In all, 839 patients with a CHEK2 mutation were matched to 839 patients without a mutation. The mean follow-up was 12.0 years. The 15-year survival for CHEK2 carriers was 76.6% and the 15-year survival for non-carrier control patients was 78.8% (adjusted HR = 1.06; 95% CI: 0.84-1.34; P = 0.61). Among CHEK2 carriers, the 15-year survival for women who had an oophorectomy was 86.3% and for women who did not have an oophorectomy was 72.1% (adjusted HR = 0.59; 95% CI: 0.38-0.90; P = 0.02). Among controls, the 15-year survival for patients who had an oophorectomy was 84.5% and for women who did not have an oophorectomy was 77.6% (adjusted HR = 1.03; 95% CI: 0.66-1.61; P = 0.90)., Conclusion: Among women with breast cancer and a CHEK2 mutation, oophorectomy is associated with a reduced risk of death from breast cancer., (© 2022. The Author(s), under exclusive licence to Springer Nature Limited.)

<b>Introduction:</b> Cutaneous melanoma is estimated for 2% of malignant neoplasms occurring in humans. It is characterized by a high level of malignancy and low sensitivity to cytostatic drugs. The incidence of cutaneous melanoma is increasing in Poland. The lymphatic system is the most common route of dissemination of this neoplasm. The appearance of a sentinel node biopsy technique has made it possible to identify patients with a regionally advanced disease. It is a minimally invasive method with a small percentage of complications. <br><b>Aim: </b>Analysis of disease free survival (DFS) in cutaneous melanoma patients with sentinel lymph node biopsy. <br><b>Material and methods:</b> The analysis included 222 patients with cutaneous melanoma treated in the Department of Oncological Surgery in 2010-2015, who underwent a sentinel node biopsy. The study group consisted of 136 women and 86 men, the average age of patients was 59 years. Patients were qualified for sentinel node biopsy based on clinical evaluation and ultrasound of regional lymph nodes. The average follow-up was 25.1 months. About 2 hours before surgery, patients received a radioisotope, then lymphoscintigraphy SPECT was performed. Additionally, they were administered the Patent Blue dye in the operating room. <br><b>Results:</b> The sentinel node was identified in 217 patients (98%), and the average sentinel nodes were 2.25. Twenty-seven patients (12%) had a metastasis in sentinel nodes. In this group, the duration of symptom free survival was significantly shorter. Sentinel node status and age of the patient were independent factors affecting the prognosis of disease free survival. <br><b>Conclusions:</b> Sentinel node biopsy is a precise method to identify patients with cutaneous melanoma who have metastasis to regional lymph nodes, as well as the most important prognostic factor.

Purpose: To evaluate in a contemporary cohort the impacts of chemotherapy and oophorectomy on survival for breast cancer patients with a BRCA1 mutation., Experimental Design: We reviewed the pathology reports and medical records of 372 women with breast cancer and a BRCA1 mutation, diagnosed from 2005 to 2017, between the ages of 25 and 65 and followed them for death from all causes and death from breast cancer. Death was ascertained through the Poland vital statistics registry. We performed survival analysis to evaluate the impacts of chemotherapy (including neoadjuvant cisplatinum) and of oophorectomy on survival., Results: After a mean follow-up of 5.6 years (median 5.2), 66 of the 372 women died; 56 of the deaths were from breast cancer and 6 were from ovarian cancer. 127 women received neoadjuvant cisplatinum and 245 women received other chemotherapies. Cisplatinum (versus all other therapies) was associated with a hazard ratio of 0.42 (95%CI 0.20-0.87) on breast cancer-specific survival. The 10-year actuarial all-cause survival for women who had both cisplatinum and an oophorectomy was 94.4%. The 10-year all-cause survival for women who had neither cisplatinum nor an oophorectomy was 65.4% (p < 0.01)., Conclusions: Cisplatinum and oophorectomy are effective therapies for women with breast cancer and a BRCA1 mutation.

Background: Causative variants in BRCA1 and BRCA2 are well-established risk factors for breast and ovarian cancer. In Poland, the causative founder variants in the BRCA1 are responsible for a significant proportion of ovarian cancer cases, however, regional differences in the frequencies of various mutations may exist. The spectrum and frequency of BRCA1/2 mutations between ovarian cancer patients have not yet been studied in the region of South-East Poland., Methods: We examined 158 consecutive unselected cases of ovarian cancer patients from the region of Podkarpacie. We studied 13 Polish causative founder variants in BRCA1 (c.5266dupC, c.4035delA, c.5251C > T, c.181 T > G, c.676delT, c.68&#95;69delAG, c.3700&#95;3704delGTAAA, c.1687C > T, c.3756&#95;3759delGTCT) and in BRCA2 (c.658&#95;659delGT, c.7910&#95;7914delCCTTT, c.3847&#95;3848delGT, c.5946delT)., Results: A BRCA1 causative founder variants were detected in 10 of the 158 (6.3%) ovarian cancer cases. BRCA2 causative founder variants were not observed. The c.5266dupC mutation was detected in 6 patients, c.181 T > G mutation in 3 patients and the c.676delT mutation in 1 patient. The median age of diagnosis of the 10 hereditary ovarian cancers was 55.5 years of age., Conclusions: The frequency of 13 causative founder variants in Podkarpacie was lower than in other regions of Poland. Testing of three BRCA1 mutations (c.5266dupC, c.181 T > G, c.676delT) should be considered a sensitive test panel., Competing Interests: All participants gave informed written consent prior blood donating. The study was approved by Ethics Committee of the Pomeranian Medical University in Szczecin, Poland (decision No. BN-001/174/05.Not applicable.The authors declare that they have no competing interests.Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

For women undergoing mastectomy as part of their breast cancer treatment, breast reconstruction is an important part of therapy. However, neoadjuvant, adjuvant treatments as well as other patient-related factors can compromise the results of breast reconstruction techniques. In this article we have reviewed current approaches to the management of complications and risks that neoadjuvant and adjuvant therapies pose on breast reconstruction after mastectomy for breast cancer. Non-treatment related factors influencing reconstruction techniques were reviewed as well.

Purpose: To estimate 10-year overall survival (OS) rates for patients with early-onset breast cancer, with and without a BRCA1 mutation, and to identify prognostic factors among those with BRCA1-positive breast cancer., Patients and Methods: A total of 3,345 women with stage I to III breast cancer, age ≤ 50 years, were tested for three founder mutations in BRCA1. Information on tumor characteristics and treatments received was retrieved from medical records. Dates of death were obtained from the vital statistics registry. Survival curves for the mutation-positive and -negative subcohorts were compared. Predictors of OS were determined using the Cox proportional hazards model., Results: Of the 3,345 patients enrolled onto the study, 233 (7.0%) carried a BRCA1 mutation. The 10-year survival rate for mutation carriers was 80.9% (95% CI, 75.4% to 86.4%); for noncarriers, it was 82.2% (95% CI, 80.5% to 83.7%). The adjusted hazard ratio (HR) associated with carrying a BRCA1 mutation was 1.81 (95% CI, 1.26 to 2.61). Among BRCA1 carriers with a small (< 2 cm) node-negative tumor, the 10-year survival rate was 89.9%. Among BRCA1 mutation carriers, positive lymph node status was a strong predictor of mortality (adjusted HR, 4.1; 95% CI, 1.8 to 8.9). Oophorectomy was associated with improved survival in BRCA1 carriers (adjusted HR, 0.30; 95% CI, 0.12 to 0.75)., Conclusion: The 10-year survival rate among women with breast cancer and a BRCA1 mutation is similar to that of patients without a BRCA1 mutation. Among women with a BRCA1 mutation, survival was much improved after oophorectomy.

Introduction: The purpose of this investigation was to evaluate the efficacy of cisplatin chemotherapy in BRCA1 mutation carriers with metastatic breast cancer., Methods: In a phase II, open-label study, 20 patients with metastatic breast cancer who carried a mutation in BRCA1 were treated with cisplatin 75 mg/m2 intravenously every 3 weeks as part of a 21-day cycle for 6 cycles. Restaging studies to assess response were performed after cycles 2 and 6, and every three months thereafter., Results: Between July 2007 and January 2009, 20 patients were enrolled. Baseline characteristics were as follows: 65% had prior adjuvant chemotherapy, 55% had prior chemotherapy for metastatic breast cancer; mean age was 48 years (ranges 32 to 70); 30% estrogen receptor (ER) or progesterone receptor (PR)+, 70% ER/PR/Human Epidermal Growth Factor Receptor 2 (HER2)- and 0% HER2+. Overall response rate was 80%; nine patients experienced a complete clinical response (45%) and seven experienced a partial response (35%). Overall survival was 80% at one year, 60% at two years and 25% at three years. Four of the 20 patients are alive four years after initiating treatment. The median time to progression was 12 months. The median survival from the start of cisplatinum treatment was 30 months. Cisplatin-related adverse events, including nausea (50%), anemia (5%) and neutropenia (35%) were mostly mild to moderate in severity., Conclusions: This phase II study demonstrates that cisplatin chemotherapy has high activity in women with a BRCA1 mutation and metastatic breast cancer and is generally well tolerated., Trial Registration: This trial is registered retrospectively on the clinical trials website ClinicalTrials.gov. The identifier is NCT01611727.

Paget disease (PD) of the nipple with coexisting intraductal (DCIS) and invasive carcinoma of the breast comprises 0.6-1.8% of all malignant epithelial neoplasms of this organ. Unlike invasive ductal carcinoma, there are many controversies concerning histological features of PD and the significance of the immunohistochemical characteristics of this neoplasm, which limits the optimal treatment protocols. Therefore, we decided to verify the immunohistochemical markers of PD basing on the retrospective analysis of postoperative material from 69 patients treated surgically. Microscopic examination revealed partial (7 cases) or total (62 cases) replacement of the squamous epithelium of the nipple with nests of atypical glandular cells spreading in an area ranging from 0.2 to 2.5 cm. DCIS coexisting with the PD lesions was present in all examined patients, and infiltrating carcinoma occurred in 31 (44.9%) patients. Both intraepidermal and DCIS components presented c-erbB2 overexpression. Positive estrogen and progesterone receptor staining was observed only in 7 (10.1%) and 2 (2.7%) tumours, respectively. Ki-67 proliferation index of PD cells ranged from 10% to 30%, whereas in DCIS it varied from 4% to 20%. The value of Ki-67 index exceeding 25% in the intraepidermal component of PD was associated with worse overall survival rate.

Giant cell tumour of soft part is a very rare neoplasm. The majority of these tumours are located superficially (in subcutaneous tissue) and occur in the proximal parts of the extremities. The deep-situated giant cell tumours of the neck are extremely rare. That is why we report a case of primary giant cell tumour of soft part localized in the trapezius muscle of a 19-year-old woman. We present both cytological and histological picture of the neoplasm. The cytological image of the smear is so representative that the proper diagnosis can be settled basing on the fine-needle aspiration cytology.

We present a case of 75 years old woman who successfully underwent resection of the right renal vein leiomyosarcoma (LMS-VR) with preservation of the kidney. It is the first reported case in Polish and fifth in world literature. The patient is alive without recurrence 24 months after operation. The surgical resection of LMS-VR with the preservation of the kidney should always be considered when the tumour does not infiltrate the renal hilus.