Abstract
Somatic mutations in cancer driver genes can help diagnosis, prognosis and treatment decisions. Formalin-fixed paraffin-embedded (FFPE) specimen is the main source of DNA for somatic ...mutation detection. To overcome constraints of DNA isolated from FFPE, we compared pyrosequencing and ddPCR analysis for absolute quantification of BRAF V600E mutation in the DNA extracted from FFPE specimens and compared the results to the qualitative detection information obtained by Sanger Sequencing. Sanger sequencing was able to detect BRAF V600E mutation only when it was present in more than 15% total alleles. Although the sensitivity of ddPCR is higher than that observed for Sanger, it was less consistent than pyrosequencing, likely due to droplet classification bias of FFPE-derived DNA. To address the droplet allocation bias in ddPCR analysis, we have compared different algorithms for automated droplet classification and next correlated these findings with those obtained from pyrosequencing. By examining the addition of non-classifiable droplets (rain) in ddPCR, it was possible to obtain better qualitative classification of droplets and better quantitative classification compared to no rain droplets, when considering pyrosequencing results. Notable, only the Machine learning k-NN algorithm was able to automatically classify the samples, surpassing manual classification based on no-template controls, which shows promise in clinical practice.
Priporočila za obravnavo bolnikov z limfedemom Planinšek Ručigaj, Tanja; Kozak, Matija; Slana, Ana ...
Zdravniški vestnik (Ljubljana, Slovenia : 1992),
09/2018, Letnik:
87, Številka:
7-8
Journal Article
Recenzirano
Odprti dostop
V prispevku so predstavljena priporočila za obravnavo bolnikov z limfedemom. Prikazana je klinična slika, diagnosticiranje in različni načini obravnave.
Despite surgical treatment, chemotherapy, and/or radiotherapy, the vast majority of patients with anaplastic thyroid carcinoma (ATC) have a dismal prognosis. Better knowledge of the frequency of ...metastases to different sites might help us to perform the appropriate diagnostic tests before treatment and during the course of the disease. The aim of this study was to determine the frequency of metastases from ATC in different sites as found at autopsy.
Altogether, 205 patients were treated for ATC at our institute during the years 1972-2008. Autopsy was performed in 45 cases (30 females, 15 males; median age 66 years). The relative frequencies of metastases in different sites were analyzed using descriptive statistics.
Altogether, 41 cases (91%) had metastases at autopsy. The most common sites of metastases were the lungs (78%), intrathoracic lymph nodes (58%), neck lymph nodes (51%), pleura (29%), adrenal glands (24%), liver (20%), brain (18%), heart (18%), and retroperitoneal lymph nodes (18%). Less common sites of distant metastases were the pericardium (13%), bones (13%), kidneys (13%), mesentery or peritoneum (13%), skin (9%), pancreas (4%), stomach (4%), diaphragm (4%), pituitary gland (2%), ovary (2%), jejunum (2%), axillary lymph nodes (2%), and gingival mucosa (2%). Both distant and regional metastases were present in 23 cases, while only distant metastases were present in 18 cases. An extensive local infiltration of the primary tumor was found in 76% of the cases. The total number of the involved organs and lymph node basins were 123 and 58, respectively. The mean number of metastatic sites was 4.02±2.75. Lung metastases were present in 34 of 38 (89%) of our patients who had distant metastases found at autopsy. Of these 34 patients, 27 were known to have lung metastases when they were alive.
Two or more metastatic sites were found at autopsy in 84% of cases. The most common metastatic sites are lungs, followed by the intrathoracic and neck lymph nodes.
Abstract Background The aim of the study was to report on the experience in a single tertiary cancer center about the treatment and outcome of patients with Graves’ disease (GD) and metastatic ...thyroid cancer as compared with patients without GD in our country. Patients and methods Altogether, 28 patients (8 males, 20 females; 49–85 years of age; median 74 years) were treated because of differentiated thyroid cancer and distant metastasis at the time of diagnosis during a 10-year period (from 2010 to 2019) in the Republic of Slovenia. The subject of our retrospective study were four patients (three men, one female; 64–76 years of age, median 73 years) who had Graves’ disease and metastatic thyroid cancer. Results The mean age of patients without GD and with GD was 74 years and 71 years, respectively (p = 0.36). There was a trend for male predominance in patients with GD (p = 0.06). There was no statistical difference in size of primary tumors, pT stage or pN stage between the group of patients without GD and with GD. The median length of follow-up was 3.33 years (range 0.04–7.83) and 5-year disease-specific survival was 51%. One of four patients with GD and 14 of 24 patients without GD died of thyroid cancer. There was no statistical difference in disease-specific survival between patients’ group of without GD and with GD (p = 0.59). Conclusions In our country Slovenia, 14% of patients with metastatic differentiated thyroid carcinoma at the time of diagnosis had Graves’ disease. There was no difference in the treatment, outcome or survival of patients with GD in comparison to those without GD.
The objective of this study was to evaluate the severity of acute pain and side effects in breast cancer patients postoperatively treated with two regimens of tramadol with paracetamol in a ...prospective double-blind study. Altogether 117 breast cancer patients who had axillary lymphadenectomy were randomized into two analgesic study groups and the analgesic treatment lasted 4 weeks. Stronger analgesia group received every 8 h 75/650 mg of tramadol with paracetamol, while weaker analgesia group received every 8 h 37.5/325 mg of tramadol with paracetamol. Patients with the higher dose of tramadol had less pain during the 1st and 4th week than patients with the lower dose. Frequency of nausea, vomiting, lymphedema or range of shoulder movement was not significantly different between the two groups of patients. Constipation was significantly more common in the group with stronger analgesia during the 2nd week in comparison to patients with weaker analgesia. The patients who were on 75/650 mg of tramadol with paracetamol had less pain in comparison to patients who were on 37.5/325 mg. Side effects were mild, but common in both groups of patients.
Purpose
The aim of this study was to compare the rate of chronic adverse effects after a weaker and stronger postoperative analgesia.
Methods
A prospective double-blind randomized study included 117 ...breast cancer patients receiving tramadol for pain relief for 4 weeks after an axillary lymphadenectomy from 2015 to 2018. Patients with a larger dose received 75/650 mg of tramadol with paracetamol every 8 h and a group with a lower dose received 37.5/325 mg of tramadol with paracetamol every 8 h from the 2nd to the 29th postoperative day. 1 year after surgery, patients were evaluated for the presence of neuropathic pain, chronic pain, arm symptoms and lymphedema.
Results
There was a trend for a lower rate of neuropathic pain after stronger analgesia in comparison to weaker analgesia (
p
= 0.059). Chronic pain was present in 18% of patients 1 year after the lymphadenectomy. There was no difference in the rate of chronic pain after stronger and weaker postoperative analgesia. Patients had less arm symptoms after a stronger analgesia than after a weaker analgesia (
p
= 0.02). Furthermore, there was a trend for a lower rate of lymphedema of the forearm after a stronger analgesia than after a lower analgesia (
p
= 0.078).
Conclusions
The patients who received a stronger postoperative analgesia had less arm symptoms and a better quality of life in comparison to patients who received a weaker analgesia. The patients who received a stronger postoperative analgesia had a statistical trend for less neuropathic pain in comparison to patients who received a weaker analgesia.
Objective
To assess the prevalence of unmet needs in post-treatment breast cancer survivors and identify sociodemographic, clinical, and psychosocial variables associated with reported unmet needs ...during the COVID-19 pandemic.
Materials and methods
In this cross-sectional study, 430 post-treatment breast cancer survivors, ranging between 1 and 5 years after the procedure, completed the Cancer Survivors’ Unmet Needs (CaSUN) questionnaire from September 2021 and January 2022. The multivariate logistic analysis identified factors associated with at least one reported unmet need in the total CaSUN scale and specific domains.
Results
A total of 67% of survivors reported at least one unmet need. The most frequently reported unmet needs were the lack of accessible hospital parking (43%) and recurrence concerns (39.5%). The majority of reported unmet needs relate to comprehensive care (44%), followed by the psychological and emotional support domain (35.3%). Younger age (OR = 0.95, 95% CI = 0.92–0.99;
p
< 0.001), three or more comorbidities (OR = 0.27, 95% CI = 0.11–0.71,
p
< 0.01), a lower quality of life (OR = 0.06, 95% CI = 0.01–0.47,
p
< 0.01) and low resilience (OR = 0.95, 95% CI = 0.93–0.99) were associated with a high level of unmet needs in the multivariate regression model. Results are presented for factors associated with a high level of unmet needs for comprehensive cancer care and psychological and emotional support domain.
Conclusion
A high prevalence found in our study could be attributed to the COVID-19 pandemic, where patients may have missed adequate follow-up care, although comparing to studies done in non-pandemic time is difficult. Family physicians should be more attentive toward younger cancer survivors and those with more comorbidities as both characteristics can be easily recognized in the family practice.
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