Desmoid-type fibromatosis is a sarcoma subtype that gathers some singular characteristics, making it a difficult challenge to face in clinical practice. Despite its excellent survival prognosis, these tumors may be unpredictable, ranging from an asymptomatic indolent course to persistent, local, and extended recurrences that significantly impair quality of life. Although surgery was initially considered the first elective treatment, collected published data during the past few years are now pointing to the "wait and see" approach as a reasonable initial strategy because many patients can live a long life with the disease without having symptoms. When symptoms appear or there is a risk of functional impairment, a wide spectrum of therapies (local and systemic) can be useful in improving symptoms and controlling the disease. Because of the low incidence of desmoid-type fibromatosis, there is scarce scientific evidence supporting any specific treatment. Nonetheless, if volumetric responses are needed, chemotherapy may be a reasonable early option. However, if long-term control of disease is desirable, hormonal therapy, NSAIDs, and TKIs are the likely treatments of choice. Recent new findings in the biologic development of these tumors, such as the role of Wnt/β-catenin dependent pathway, have shown that the prognostic information provided by specific CTNNB1 gene mutations and other genetic profiles can lead to better methods of selecting patients as candidates for other approaches. Based on recent research, the Notch pathway inhibition in DF is one of the most promising potential targets to explore. As an orphan disease, it is mandatory that as many patients as possible be included in clinical trials.
Guillain-Barré syndrome (GBS) is a well-established complication of infectious disease. So it is not surprising that several cases have been described during the actual SARS-CoV-2 infection pandemic. Most of the descriptions are patients suffering a severe GBS in the setting of a severe SARS-CoV-2 infection. We described five patients with mild forms of COVID-19. After 2–4 weeks, these patients develop mild neurological symptoms. The clinical and neurophysiological studies supported a diagnosis of an acute polyneuropathy. Symptoms resolved without specific treatment and primary care physicians managed all patients outpatiently. Mild SARS-CoV-2 infection could associate mild neurological complications too. So patients complaining about mild neurological symptoms, a SARS-CoV-2 infection may be excluded. Supplementary Information The online version contains supplementary material available at 10.1007/s42399-021-00855-x.
Background: Genome-wide association studies have identified robust susceptibility loci associated with lung cancer. As part of the OncoArray-TRICL consortium, we have recently completed the largest GWAS on lung cancer including 29,266 cases and 56,450 controls of European descent. The goal of this study is to integrate the complete GWAS results with a large-scale expression quantitative trait loci (eQTL) mapping study in human lung tissues (n¼1,038) to identify candidate causal genes for lung cancer. Method: Transcriptome-wide association study (TWAS) was used to integrate GWAS and lung eQTL signals and identify genes whose levels of expression in lung tissue are causally related to lung cancer. TWAS was performed on six histological and smoking subgroups, namely overall lung cancer, adenocarcinoma, squamous cell carcinoma, small cell carcinoma, never-smokers, and ever-smokers. Result: As expected, the main TWAS signal for all histological subtypes and ever-smokers was on chromosome 15q25. The genes most strongly associated with lung cancer at this locus were IREB2(P TWAS ¼4.97E-104), and to a lower extent, CHRNA5(P TWAS ¼5.26E-20) and HYKK(P TWAS ¼2.04E-17). TWAS identified causal genes were different from those reported in GWAS including JAMLon 11q23.3 in overall lung cancer (P TWAS ¼1.39E-6) and adenocarcinoma (P TWAS ¼2.09E-8),NOTCH4on 6p21.32 in squamous cell carcinoma (P TWAS ¼1.24E-12), ZNRD1on 6p22.1 in overall lung cancer (P TWAS ¼3.41E-14) and ever-smokers (P TWAS ¼1.29E-9), HIST1H2BDon 6p22.2 for small cell carcinoma (P TWAS ¼1.54E-6), and NEXNon 1p31.1 in never-smokers (P TWAS ¼2.64E-5). In addition, a new small cell carcinoma susceptibility locus was identified on 4q32.2 and associated with the expression levels of TMA16(P TWAS ¼4.2E-6). Conclusion: In conclusion, lung tissue TWAS on lung cancer, histological subtypes and smoking subgroups revealed novel causal genes in GWAS-nominated loci. A new locus for small cell carcinoma (4q32.2-TMA16) was also identified and will require further validation.Background: Published risk estimates for diagnosis of lung cancer based on family history are typically focused on close relatives, rather than a more diverse or complete family history. This study provides relative risks (RR) for lung cancer based on comprehensive family history data obtained from a statewide Cancer Registry linked to a high quality genealogy data resource. Risk estimates presented avoid common recall, recruitment, ascertainment biases, and are based on an individual's (proband's) lung cancer family history constellation (pattern of lung cancer affected relatives). Method: A population-based genealogical resource linked to a statewide electronic SEER cancer registry estimated relative risk (RR) for lung cancer for an individual based upon their lung cancer family history. Family history data available for a proband included degree of relationship (first to thirddegree), paternal or maternal family lung cancer history, number of lung cancer affected relatives and age at diagnosis of affected...
e24093 Background: Malnutrition is a condition with great impact in oncology patients. Poor nutritional status is often associated with increased morbidity and mortality, increased toxicity and reduced tolerance to chemotherapy, among other complications. The recent GLIM criteria for malnutrition aim to homogenize its diagnosis, considering the baseline disease status. Due to the few studies that assess the predictive capacity of these new criteria, we aimed to evaluate their performance for the prediction of complications and mortality in patients with cancer. Methods: Prospective, single-centre study. All outpatients under active treatment for head and neck, upper gastrointestinal and colorectal tumors between February and October 2020 were recruited. These patients were followed up for 6 months, assessing the occurrence of complications and survival, based on GLIM diagnosis of malnutrition. Results: We enrolled 165 outpatients 46.66% malnutrition. During 6-month follow-up, patients with malnutrition (46.7%, according to GLIM criteria) had an ̃3-fold increased risk of hospital admission (p < 0.001) and the occurrence of severe infections (considered as such those requiring hospitalization, intravenous antibiotics and/or drainage by interventional procedure) during follow-up (p = 0.002). Similarly, malnourished patients had a 3.5-fold increased risk of poor pain control and a 4.4-fold increased need for a higher dose of opioids (both p < 0.001). They also had a 2.6-fold increased risk of toxicity (p = 0.044) and a 2.5-fold increased likelihood of needing a dose decrease or discontinuation of cancer treatment (p = 0.011). 6-month survival of malnourished patients was significantly lower (p = 0.023) than non-malnourished patients. Conclusions: Diagnosis of malnutrition according to GLIM criteria in oncology patients on active treatment predicts increased complications and worse survival at 6-month follow-up, making them a useful tool to assess the nutritional status of oncology patients.[Table: see text]
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