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Cancers ◽  
2022 ◽  
Vol 14 (2) ◽  
pp. 356
Author(s):  
Severin Rodler ◽  
Melanie Götz ◽  
Jan-Niclas Mumm ◽  
Alexander Buchner ◽  
Annabel Graser ◽  
...  

Pulmonary metastases are the most frequent site of metastases in renal cell carcinoma (RCC). Metastases directed treatment remains an important treatment option despite advances in systemic therapies. However, the safety and efficacy of robotic radiosurgery (RRS) for the treatment of lung metastases of RCC remains unclear. Patients with metastatic RCC and lung metastases treated by RRS were retrospectively analyzed for overall survival (OS), progression-free survival (PFS), local recurrence free survival (LRFS) and adverse events. The Kaplan–Meier method was used for survival analysis and the common terminology criteria for adverse events (CTCAE; Version 5.0) classification for assessment of adverse events. A total of 50 patients were included in this study. Median age was 64 (range 45–92) years at the time of RRS. Prior to RRS, 20 patients (40.0%) had received either tyrosine kinase inhibitors or immunotherapy and 27 patients (54.0%) were treatment naïve. In our patient cohort, the median PFS was 13 months (range: 2–93). LRFS was 96.7% after two years with only one patient revealing progressive disease of the treated metastases 13 months after RRS. Median OS was 35 months (range 2–94). Adverse events were documented in six patients (12%) and were limited to grade 2. Fatigue (n = 4) and pneumonitis (n = 2) were observed within 3 months after RRS. In conclusion, RRS is safe and effective for patients with metastatic RCC and pulmonary metastases. Radiation induced pneumonitis is specific in the treatment of pulmonary lesions, but not clinically relevant and survival rates seem favorable in this highly selected patient cohort. Future directions are the implementation of RRS in multimodal treatment approaches for oligometastatic or oligoprogressive disease.


2022 ◽  
pp. 1-11
Author(s):  
Selma Demir ◽  
Hümeyra Yaşar Köstek ◽  
Aslıhan Sanrı ◽  
Ruken Yıldırım ◽  
Fatma Özgüç Çömlek ◽  
...  

<b><i>Introduction:</i></b> Germline pathogenic variations of the genes encoding the components of the Ras-MAPK pathway are found to be responsible for RASopathies, a clinically and genetically heterogeneous group of diseases. In this study, we aimed to present the results of patients genetically investigated for RASopathy-related mutations in our Genetic Diagnosis Center. <b><i>Methods:</i></b> The results of 51 unrelated probands with RASopathy and 4 affected relatives (31 male, 24 female; mean age: 9.327 ± 8.214) were included in this study. Mutation screening was performed on DNA samples from peripheral blood of the patients either by Sanger sequencing of <i>PTPN11</i> hotspot regions (10/51 probands), or by a targeted amplicon next-generation sequencing panel (41/51 probands) covering the exonic regions of <i>BRAF</i>, <i>CBL</i>, <i>HRAS</i>, <i>KRAS</i>, <i>LZTR1</i>, <i>MAP2K1</i>, <i>MAP2K2</i>, <i>NF1</i>, <i>NRAS</i>, <i>PTPN11</i>, <i>RAF1</i>, <i>RASA2</i>, <i>RIT1</i>, <i>SHOC2</i>, <i>SOS1</i>, <i>SOS2</i>, <i>SPRED1</i>, and <i>KAT6B</i> genes. <b><i>Results:</i></b> Pathogenic/likely pathogenic variations found in 22 out of 51 probands (43.13%) and their 4 affected family members were located in <i>PTPN11</i>, <i>BRAF</i>, <i>KRAS</i>, <i>NF1</i>, <i>RAF1</i>, <i>SOS1</i>, and <i>SHOC2</i> genes. The c.148A&#x3e;C (p.Thr50Pro) variation in the <i>KRAS</i> gene was a novel variant detected in a sibling in our patient cohort. We found supportive evidence for the pathogenicity of the <i>NF1</i> gene c.5606G&#x3e;T (p.Gly1869Val) variation which we defined in an affected boy who inherited the mutation from his affected father. <b><i>Conclusion:</i></b> Although <i>PTPN11</i> is the most frequently mutated gene in our patient cohort, as in most previous reports, different mutation distribution among the other genes studied motivates the use of a next-generation sequencing gene panel including the possible responsible genes.


BMC Cancer ◽  
2022 ◽  
Vol 22 (1) ◽  
Author(s):  
Georgia Sofia Karachaliou ◽  
Rached Alkallas ◽  
Sarah B. Carroll ◽  
Chongshan Caressi ◽  
Danny Zakria ◽  
...  

Abstract Background Melanoma-intrinsic activated β-catenin pathway, the product of the catenin beta 1 (CTNNB1) gene, has been associated with low/absent tumor-infiltrating lymphocytes, accelerated tumor growth, metastases development, and resistance to anti-PD-L1/anti-CTLA-4 agents in mouse melanoma models. Little is known about the association between the adenomatous polyposis coli (APC) and CTNNB1 gene mutations in stage IV melanoma with immunotherapy response and overall survival (OS). Methods We examined the prognostic significance of somatic APC/CTNNB1 mutations in the Cancer Genome Atlas Project for Skin Cutaneous Melanoma (TCGA-SKCM) database. We assessed APC/CTNNB1 mutations as predictors of response to immunotherapies in a clinicopathologically annotated metastatic patient cohort from three US melanoma centers. Results In the TCGA-SKCM patient cohort (n = 434) presence of a somatic APC/CTNNB1 mutation was associated with a worse outcome only in stage IV melanoma (n = 82, median OS of APC/CTNNB1 mutants vs. wild-type was 8.15 vs. 22.8 months; log-rank hazard ratio 4.20, p = 0.011). APC/CTNNB1 mutation did not significantly affect lymphocyte distribution and density. In the 3-melanoma institution cohort, tumor tissues underwent targeted panel sequencing using two standards of care assays. We identified 55 patients with stage IV melanoma and APC/CTNNB1 genetic aberrations (mut) and 169 patients without (wt). At a median follow-up of more than 25 months for both groups, mut compared with wt patients had slightly more frequent (44% vs. 39%) and earlier (66% vs. 45% within six months from original diagnosis of stage IV melanoma) development of brain metastases. Nevertheless, time-to-development of brain metastases was not significantly different between the two groups. Fortunately, mut patients had similar clinical benefits from PD-1 inhibitor-based treatments compared to wt patients (median OS 26.1 months vs. 29.9 months, respectively, log-rank p = 0.23). Less frequent mutations in the NF1, RAC1, and PTEN genes were seen in the mut compared with wt patients from the 3-melanoma institution cohort. Analysis of brain melanoma tumor tissues from a separate craniotomy patient cohort (n = 55) showed that melanoma-specific, activated β-catenin (i.e., nuclear localization) was infrequent (n = 3, 6%) and not prognostic in established brain metastases. Conclusions APC/CTNNB1 mutations are associated with a worse outcome in stage IV melanoma and early brain metastases independent of tumor-infiltrating lymphocyte density. However, PD1 inhibitor-based treatments provide comparable benefits to both mut and wt patients with stage IV melanoma.


2022 ◽  
Author(s):  
Tobias Roeschl ◽  
Anas Jano ◽  
Franziska Fochler ◽  
Lars S. Maier ◽  
Mona M. Grewe ◽  
...  

Abstract Background: There is a consensus, that transradial-access (TRA) for coronary procedures should be preferred over transfemoral-access (TFA). Previously, forearm-artery-angiography was mainly performed when difficulties during the advancement of the guidewire were encountered. We explored the implication of a standardized forearm-angiography (SFA) on procedural success rates of TRA.Methods: 1191 consecutive cases were assessed retrospectively. Primary TFA rates, crossover to TFA, reasons for forearm-artery-access (FAA) failure, the prevalence of kinking at the level of the forearm and the occurrence of vascular complications were analyzed.Results: Primary FAA access was attempted in 97.9%. Crossover to TFA after a primary or secondary FAA attempt was necessary in 2.8%. Severe kinking was the most frequent cause of FAA failure and occurred in 3.0%. A second or third FAA attempt to avoid TFA was successful in 81%. Severe kinking at the level of the forearm was reported in 1.8%.Conclusion:This is the first study to provide detailed success rates of a primary FAA strategy combined with SFA. While severe kinking proved to be a rare but relevant challenge for FAA success, the prevalence of arterial spasm was marginal. Multiple attempts of FAA to avoid TFA might be safe possibly due to collateral blood supply.


2022 ◽  
Vol 12 (1) ◽  
Author(s):  
Charlotte G. Mortz ◽  
Henrik F. Kjaer ◽  
Trine H. Rasmussen ◽  
Helene M. Rasmussen ◽  
Lene Heise Garvey ◽  
...  

Diagnostics ◽  
2021 ◽  
Vol 11 (12) ◽  
pp. 2281
Author(s):  
Felix Eisenhut ◽  
Tobias Engelhorn ◽  
Soheil Arinrad ◽  
Sebastian Brandner ◽  
Roland Coras ◽  
...  

To evaluate single- and multiparametric MRI models to differentiate recurrent glioblastoma (GBM) and treatment-related changes (TRC) in clinical routine imaging. Selective and unselective apparent diffusion coefficient (ADC) and minimum, mean, and maximum cerebral blood volume (CBV) measurements in the lesion were performed. Minimum, mean, and maximum ratiosCBV (CBVlesion to CBVhealthy white matter) were computed. All data were tested for lesion discrimination. A multiparametric model was compiled via multiple logistic regression using data demonstrating significant difference between GBM and TRC and tested for its diagnostic strength in an independent patient cohort. A total of 34 patients (17 patients with recurrent GBM and 17 patients with TRC) were included. ADC measurements showed no significant difference between both entities. All CBV and ratiosCBV measurements were significantly higher in patients with recurrent GBM than TRC. A minimum CBV of 8.5, mean CBV of 116.5, maximum CBV of 327 and ratioCBV minimum of 0.17, ratioCBV mean of 2.26 and ratioCBV maximum of 3.82 were computed as optimal cut-off values. By integrating these parameters in a multiparametric model and testing it in an independent patient cohort, 9 of 10 patients, i.e., 90%, were classified correctly. The multiparametric model further improves radiological discrimination of GBM from TRC in comparison to single-parameter approaches and enables reliable identification of recurrent tumors.


2021 ◽  
Vol 108 (Supplement_9) ◽  
Author(s):  
Claire Coleman ◽  
Wendy Hickey ◽  
Cathy White

Abstract Background Cancer related distress has a major impact on quality of life. The psychosocial needs of patients post an oesophagectomy  are significant and exacerbate the physical burden. The Upper GI MDT at our hospital aim to provide holistic patient centred care that equips patients mentally and physically for their treatment pathway. Formal or structured pyschoncology services are not routinely available to our patient cohort. The aim of the audit undertaken was to assess awareness of and subsequent engagement with available mental health services in patients undergoing a curative resection for oesophagogastric cancer. Methods Patients who underwent either a gastrectomy or oesophagectomy in the Upper GI Centre between Nov 2018 and May 2019 were included. They each received a questionnaire to complete anonymously. Responses were via prepaid post. Responses were collated and analysed. Results 36 questionnaires sent out with 21 patients responding (Response rate 58%). Average age:69 (age range 40-84). 18 of the 21 responses were male Time diagnosed with cancer: 57% were between 12 to 18 months post diagnosis and 43% between 6 to 11 months. Source of Information received: 43% reported verbal information provided and 38% reported written information was provided Current engagement with Mental Health Services: National, Community, and Exercise programmes were used by a very small number of  patients - 6 in total out of 21 respondents  Reasons for not engaging with Mental Health Services responses included ‘Not being interested or required' to ‘fearful' ‘No knowledge of service' to ‘Cant remember ' or ‘Plans to engage' 93% of respondents would recommend use of wellbeing or mental health services to someone with a diagnosis of an Upper GI Cancer Suggestions for improvements varied from use of information packs, information on life post op and more guidance needed surrounding availability of current mental health supports  Conclusions Psychosocial issues need to be addressed and there is a huge deficit in current service provision. Current service is not meeting service user needs and not empowering patients how best to manage mental burden and thus contribute to maximising treatment outcomes. National Cancer Strategy acknowledges lack of access for cancer patients to pyschoncology services. The Cancer Centre is awaiting appointment of a Pyschoncology Consultant and Team in the coming months. The Upper GI MDT will seek access to this service once available for their patient cohort. In interim use limited national and community resources available. Provide education to wider team members to standardise approach providing both written and verbal information on available mental health and well being services, embed mental health awareness into daily practice with encouragement for early patient intervention if cancer related distress evident. Re Audit after introduction of these measures.


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