Evaluation and predictive factors of complete response in rectal cancer after neoadjuvant chemoradiation therapy

Publisher Copyright: © 2021 by the authors. Licensee MDPI, Basel, Switzerland.The response to neoadjuvant chemoradiation therapy is an important prognostic factor for locally advanced rectal cancer. Although the majority of the patients after neoadjuvant therapy are referred to following surgery, the clinical data show that complete clinical or pathological response is found in a significant proportion of the patients. Diagnostic accuracy of confirming the complete response has a crucial role in further management of a rectal cancer patient. As the rate of clinical complete response, unfortunately, is not always consistent with pathological complete response, accurate diagnostic parameters and predictive markers of tumor response may help to guide more personalized treatment strategies and identify potential candidates for nonoperative management more safely. The management of complete response demands interdisciplinary collaboration includ-ing oncologists, radiotherapists, radiologists, pathologists, endoscopists and surgeons, because the absence of a multidisciplinary approach may compromise the oncological outcome. Prediction and improvement of rectal cancer response to neoadjuvant therapy is still an active and challenging field of further research. This literature review is summarizing the main, currently known clinical informa-tion about the complete response that could be useful in case if encountering such condition in rectal cancer patients after neoadjuvant chemoradiation therapy, using as a source PubMed publications from 2010–2021 matching the search terms “rectal cancer”, “neoadjuvant therapy” and “response”.Peer reviewe

Worldwide Disease — Haemorrhoids. How much do we know?

Publisher Copyright: © 2021 Sciendo. All rights reserved.Haemorrhoids are highly vascular cushions of connective tissue in the anal canal, which are normal structures of the human body. Haemorrhoidal disease in clinical practice means that there is an abnormal enlargement of the anal cushions when these transform into “anal nodules”, bleed and/or prolapse. Haemorrhoidal disease is very common. Despite numerous studies undertaken and knowledge accumulated on the aetiology and pathogenesis of haemorrhoidal disease in the last decade, the specific mechanisms responsible for the development of the disease are not thoroughly understood. The pathophysiology is most likely multifactorial and complex, manifested by muscle weakness, intrarectal prolapse, changes in vascular pressure and flow in blood vessels, malformations, sphincter damage and failure, venostasis, inflammatory reactions, endothelin and collagen abnormalities, matrix metalloproteinases activity, etc. Currently, treatment guidelines for the haemorrhoidal disease are based on Goligher's classification. The classification of haemorrhoidal disease should be submitted to revision by including aetiological factors, the dynamism of prolapse, symptomatology, enteropathogenesis, and gender characteristics. The present review is focused on recent data gained by exploring the anatomy, pathophysiology, classification, theories explaining the development of haemorrhoids, as well as aetiological invasive and surgical treatment modalities.publishersversionPeer reviewe

Pregnancy after breast cancer in BRCA1/2 mutation carriers

Funding Information: This research is supported (not financially) by the European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS)?Project ID No 739547. ERN GENTURIS is partly co-funded by the European Union within the framework of the Third Health Programme ?ERN-2016?Framework Partnership Agreement 2017?2021. Funding Information: This research is supported (not financially) by the European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS)—Project ID No 739547. ERN GENTURIS is partly co-funded by the European Union within the framework of the Third Health Programme “ERN-2016—Framework Partnership Agreement 2017–2021. Publisher Copyright: © 2022, The Author(s).Background: Often young women affected with BRCA1/2 positive breast cancer have not finished or even not started their childbearing before the onset of the disease. The aim of our mini-review is to summarize state of art knowledge on pregnancy after breast cancer in BRCA1/2 carriers. Methods: A broad review of the literature was conducted using MEDLINE (via PubMed) for relevant articles published. Main body of the abstract: This review summarizes the impact of different cytotoxic agents on a fertility, fertility preservation, maternal and fetal prognosis after pregnancy in breast cancer survivors with BRCA1/2. Conclusion: According to the existing literature evidence pregnancy after therapy for breast cancer in BRCA carriers is safe for the mother and offspring, but patients’ needs, oncofertility counseling and fertility-sparing strategy should be carefully planned before starting the cytotoxic treatment.publishersversionPeer reviewe

Population screening for hereditary and familial cancer syndromes in Valka district of Latvia

<p>Abstract</p> <p>Background</p> <p>The growing possibilities of cancer prevention and treatment as well as the increasing knowledge about hereditary cancers require proper identification of the persons at risk. The aim of this study was to test the outcome of population screening in the scientific and practical evaluation of hereditary cancer.</p> <p>Methods</p> <p>Population screening for hereditary cancer was carried out retrospectively in a geographic area of Latvia. Family cancer histories were collected from 18642 adults representing 76.6% of the population of this area. Hereditary cancer syndromes were diagnosed clinically. Molecular testing for <it>BRCA1 </it>founder mutations 300 T/G, 4153delA and 5382insC was conducted in 588 persons who reported at least one case of breast or ovary cancer among blood relatives.</p> <p>Results</p> <p>Clinically, 74 (0.40%; 95% confidence interval (CI): 0.32 - 0.50%) high-risk and 548 (2.94%, 95% CI: 2.71 - 3.19) moderate-risk hereditary cancer syndromes were detected covering wide cancer spectrum. All syndromes were characterised by high cancer frequency among blood relatives ranging 8.6 - 46.2% in contrast to spouse correlation of 2.5 - 3.6%. The mean age of cancer onset ranged 38.0 - 72.0 years in different syndromes. The <it>BRCA1 </it>gene mutations were identified in 10 (1.7%; 95% CI: 0.9 - 3.1%) probands. Families with established BRCA1 gene founder mutations were identified with the frequency 1:2663 clinically screened persons.</p> <p>Conclusions</p> <p>Population screening is a useful practical tool for the identification of persons belonging to families with high frequency of malignant tumours. The whole hereditary and familial cancer spectrum along with the age structure was identified adjusting follow-up guidelines. Another benefit of the population screening is the possibility to identify oncologically healthy persons belonging to hereditary and familial cancer families so that appropriate surveillance can be offered. Clinical diagnostics is appropriate for population screening purposes; molecular investigation provides additional information. In collaboration with family doctors, the screening is technically manageable as characterised by high compliance.</p

Pathological Complete Remission in Young Colon Cancer Patient with a Large Liver Metastasis after FOLFOX-4/Bevacizumab Treatment – A Case Report

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Allelic variants of breast cancer susceptibility genes PALB2 and RECQL in the Latvian population

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Effectiveness of Secondary Risk–Reducing Strategies in Patients with Unilateral Breast Cancer with Pathogenic Variants of BRCA1 and BRCA2 Subjected to Breast-Conserving Surgery : Evidence-Based Simulation Study

Funding Information: JM, DP, and MJC conceptualized this study. JM curated the data. PRP performed formal analysis of the study data. JG and FC were responsible for funding acquisition and project administration. JM and PRP proposed the study methodology and wrote the manuscript. MJC, EM, and GT were responsible for acquisition of resources and study supervision. PRP performed software/statistical analysis. JM, PRP, MN-M, MJC, and FC validated the study. JM, MN-M, MJC, EM, and GT performed data visualization. JM, MN-M, MJC, EM, and FC reviewed and edited the manuscript. Publisher Copyright: ©Jelena Maksimenko, Pedro Pereira Rodrigues, Miki Nakazawa-Miklaševiča, David Pinto, Edvins Miklaševičs, Genadijs Trofimovičs, Jānis Gardovskis, Fatima Cardoso, Maria João Cardoso.Background: Approximately 62% of patients with breast cancer with a pathogenic variant (BRCA1 or BRCA2) undergo primary breast-conserving therapy. Objective: The study aims to develop a personalized risk management decision support tool for carriers of a pathogenic variant (BRCA1 or BRCA2) who underwent breast-conserving therapy for unilateral early-stage breast cancer. Methods: We developed a Bayesian network model of a hypothetical cohort of carriers of BRCA1 or BRCA2 diagnosed with stage I/II unilateral breast cancer and treated with breast-conserving treatment who underwent subsequent second primary cancer risk–reducing strategies. Using event dependencies structured according to expert knowledge and conditional probabilities obtained from published evidence, we predicted the 40-year overall survival rate of different risk-reducing strategies for 144 cohorts of women defined by the type of pathogenic variants (BRCA1 or BRCA2), age at primary breast cancer diagnosis, breast cancer subtype, stage of primary breast cancer, and presence or absence of adjuvant chemotherapy. Results: Absence of adjuvant chemotherapy was the most powerful factor that was linked to a dramatic decline in survival. There was a negligible decline in the mortality in patients with triple-negative breast cancer, who received no chemotherapy and underwent any secondary risk–reducing strategy, compared with surveillance. The potential survival benefit from any risk-reducing strategy was more modest in patients with triple-negative breast cancer who received chemotherapy compared with patients with luminal breast cancer. However, most patients with triple-negative breast cancer in stage I benefited from bilateral risk-reducing mastectomy and risk-reducing salpingo-oophorectomy or just risk-reducing salpingo-oophorectomy. Most patients with luminal stage I/II unilateral breast cancer benefited from bilateral risk-reducing mastectomy and risk-reducing salpingo-oophorectomy. The impact of risk-reducing salpingo-oophorectomy in patients with luminal breast cancer in stage I/II increased with age. Most older patients with the BRCA1 and BRCA2 pathogenic variants in exons 12-24/25 with luminal breast cancer may gain a similar survival benefit from other risk-reducing strategies or surveillance. Conclusions: Our study showed that it is mandatory to consider the complex interplay between the types of BRCA1 and BRCA2 pathogenic variants, age at primary breast cancer diagnosis, breast cancer subtype and stage, and received systemic treatment. As no prospective study results are available at the moment, our simulation model, which will integrate a decision support system in the near future, could facilitate the conversation between the health care provider and patient and help to weigh all the options for risk-reducing strategies leading to a more balanced decision.publishersversionPeer reviewe

Role of percutaneous needle biopsy of axillary lymph nodes to evaluate node positive breast cancer after neoadjuvant chemotherapy

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Contrast-Enhanced Ultrasound Qualitative and Quantitative Characteristics of Parathyroid Gland Lesions

Funding Information: Funding: This research received funding from Latvian Science Funding, project number Izp-2020/2-0297, Multiparametric ultrasound correlation with morphology in patients with primary hyperparathyroidism. Publisher Copyright: © 2021 by the authors. Licensee MDPI, Basel, Switzerland.Background and Objectives: preoperative differentiation of enlarged parathyroid glands may be challenging in conventional B-mode ultrasound. The aim of our study was to analyse qualitative and quantitative characteristics of parathyroid gland lesions, using multiparametric ultrasound protocol—B-mode, Colour Doppler (CD), and contrast-enhanced ultrasound (CEUS)— and to evaluate correlation with morphology in patients with hyperparathyroidism (HPT). Materials and Methods: consecutive 75 patients with 88 parathyroid lesions and biochemically confirmed HPT prior to parathyroidectomy were enrolled in the prospective study. B-mode ultrasound, CD, and CEUS were performed with the subsequent qualitative and quantitative evaluation of acquired data. We used 1 mL or 2 mL of intravenous ultrasound contrast agent during the CEUS examination. Correlation with post-surgical morphology was evaluated. Results: seventy parathyroid adenomas were hypoechoic and well contoured with increased central echogenicity (44.3%), peripheral-central vascularization (47%), and polar feeding vessel (100%). Twelve hyperplasias presented with similar ultrasound appearance and were smaller in volume (p = 0.036). Hyperplasias had a tendency for homogenous, marked intense enhancement vs. peripherally enhanced adenomas with central wash-out in CEUS after quantitative analysis. No significant difference was observed in contrasting dynamics, regardless of contrast media volume use (1 mL vs. 2 mL). We achieved 90.9% sensitivity and 72.7% specificity, 93% positive predictive value (PPV), 87.3% negative predictive value (NPV), and 87.3% accuracy in the differentiation of parathyroid lesions prior to post-processing. In a quantitative lesion analysis, our sensitivity increased up to 98%, specificity 80%, PPV 98%, and NPV 80% with an accuracy of 96.4%. Conclusions: CEUS of parathyroid lesions shows potential in the differentiation of adenoma from hyperplasia, regardless of the amount of contrast media injected. The quantitative analysis improved the sensitivity and specificity of differentiation between parathyroid lesions. Hyperplasia was characterized by homogeneous enhancement, fast uptake, and homogeneous wash-out appearance; adenoma—by peripheral uptake, central wash-out, and reduced hemodynamics. The use of CEUS quantification methods are advised to improve the ultrasound diagnostic role in suspected parathyroid lesions.publishersversionPeer reviewe

Challenges in the management of a patient with Cowden syndrome: case report and literature review

We would like to present a patient with a classical phenotype of a rare disorder - Cowden syndrome, its diagnostics and management challenges. A breast surgeon has to be aware of this rare condition when treating a patient with breast manifestations of Cowden syndrome and has to refer the patient to a clinical geneticist for further evaluation. Sequencing of the PTEN gene showed the Asp24Gly mutation. According to the latest literature data, the lifetime risk of breast cancer for Cowden syndrome patients is 81% and surgery is a justified option to reduce the risk of breast cancer. Bilateral risk-reducing mastectomy with immediate reconstruction was performed to eliminate further risk of breast cancer. 3 years after the risk-reducing breast surgery the patient is satisfied with the outcome. This is to our best knowledge the first reported Cowden syndrome case with follow-up data after risk-reducing measures have been taken