Adrenal Referral Pattern: Management of Patients With an Adrenal Incidentaloma.

INTRODUCTION: Adrenal incidentalomas (AIs) are found in 3%-4% of abdominal computed tomography scans. Timely evaluation of their functional status and malignant potential is necessary to guide nonoperative surveillance or surgery. This study aims to evaluate the adherence of referring service patterns to the American Association of Endocrine Surgeons and American Association of Clinical Endocrinologists guidelines for the biochemical workup of AIs at a tertiary surgical clinic. METHODS: We conducted a retrospective study of 125 patients evaluated for AIs at the endocrine surgery clinic between 2017 and 2022. Information on patient demographics, referral source, and reasons for referral was collected. The appropriateness of the biochemical workup for AIs by referring physicians was assessed. Statistical analyses included chi-square and Kruskal-Wallis tests. RESULTS: Referrals came from endocrinologists (44.8%), other subspecialists (31.2%), and primary care physicians (PCPs) (19.2%). Among 125 patients, diagnoses included benign adrenal masses (52.8%), aldosteronomas (10.4%), cortisol-secreting tumors (15.2%), pheochromocytomas (12.8%), and metastatic masses (4.0%). Endocrinologists were more likely to conduct a complete biochemical workup compared to other subspecialties and PCPs (P < 0.001). Eighty-three (66.4%) patients underwent adrenalectomy, with those referred by endocrinologists more likely to undergo surgery than those referred by other subspecialties and PCPs (P < 0.001). There was no significant difference in the time from the initial clinic visit to surgery by referral source (P > 0.05). CONCLUSIONS: Over half of AIs referrals to the endocrine surgery clinic came from subspecialists and PCPs rather than endocrinologists. Familiarizing all referring physicians with American Association of Endocrine Surgeons/Association of Clinical Endocrinologists guidelines may reduce undiagnosed functional AI cases and facilitate timely surgical management.

Multigenic panels in breast cancer: Clinical utility and management of patients with pathogenic variants other than BRCA1/2.

Multigene panels can analyze high and moderate/intermediate penetrance genes that predispose to breast cancer (BC), providing an opportunity to identify at-risk individuals within affected families. However, considering the complexity of different pathogenic variants and correlated clinical manifestations, a multidisciplinary team is needed to effectively manage BC. A classification of pathogenic variants included in multigene panels was presented in this narrative review to evaluate their clinical utility in BC. Clinical management was discussed for each category and focused on BC, including available evidence regarding the multidisciplinary and integrated management of patients with BC. The integration of both genetic testing and counseling is required for customized decisions in therapeutic strategies and preventative initiatives, as well as for a defined multidisciplinary approach, considering the continuous evolution of guidelines and research in the field.

The use of echocardiography compared to electrocardiogram when screening for left ventricular hypertrophy in hypertensive patients: A cross-sectional study.

Left ventricular hypertrophy (LVH) is often used as an indicator to assess hypertension-mediated organ damage (HMOD), alongside hypertensive retinopathy (HR) and nephropathy. Assessment of HMOD is crucial when making decisions about treatment optimization. Despite longstanding debate over its reliability to detect LVH, it is common practice to perform an electrocardiogram (ECG) instead of directly assessing left ventricular mass with echocardiography. In this study, the presence of LVH was evaluated using both ECG and echocardiography among consecutive patients suspected of therapy-resistant hypertension or secondary hypertension in the outpatient clinic of the Department of Internal Medicine at the Diakonessen Hospital, Utrecht, the Netherlands, between July 15, 2017, and July 31, 2020. The primary endpoints were the specificity and sensitivity of ECG as a diagnostic tool for LVH, with echocardiography serving as the reference method. Among the 329 participants, we identified 70 individuals (21.3%) with true LVH based on echocardiography. The ECG displayed a sensitivity of 47.9% and a specificity of 75.3%. Moreover, the area under the receiver operating characteristics curve was 0.604. In conclusion, ECG demonstrates limited value in identifying LVH. Considering the importance of accurately assessing HMOD for treatment optimization of hypertension, the role of ECG as a diagnostic tool for LVH is, therefore, questionable. Instead, we recommend employing standard echocardiography as a more reliable diagnostic.

Quality of care for dual eligible beneficiaries in the oncology care model.

INTRODUCTION: Dual eligible beneficiaries are a vulnerable population who often experience inferior access to care and outcomes compared to non-dual eligible beneficiaries. The Oncology Care Model (OCM) is an alternative payment model that aims to improve coordination and quality of care in beneficiaries receiving chemotherapy and thus may improve care for dual eligible beneficiaries with cancer. METHODS: We used 100% Medicare claims data from 2014 through 2019 and included beneficiaries with bladder, breast, esophageal, colorectal, kidney, lung, pancreatic, or prostate cancer receiving chemotherapy. We constructed multivariable difference-in-differences regression models to evaluate the effect of OCM participation on healthcare utilization and quality of care at the end-of-life among dual eligible beneficiaries. We also compared healthcare utilization and quality of care outcomes to non-dual eligible beneficiaries. RESULTS: We identified 3,043,944 episodes of care among 1,260,892 unique Medicare beneficiaries. Ten percent of all beneficiaries (n = 126,758) were dual eligible and 64,087 (22%) of episodes among dual eligible patients were in an OCM participating practice. We noted no effect of OCM participation on healthcare utilization or end-of-life quality of care for dual eligible beneficiaries. However, we observed higher rates of hospitalization, emergency department visits, intensive care unit stays, and a lower number of office visits among dual eligible beneficiaries compared to non-dual eligible beneficiaries. CONCLUSIONS: Participation in OCM was not associated with improvements in quality of care or healthcare utilization for dual eligible beneficiaries. Dual eligible beneficiaries experience lower quality of care across several measures compared to non-dual eligible beneficiaries. Focused policies and incentives may be necessary to address disparities within emerging health reforms.

Time trends in the clinical management of cervical intraepithelial neoplasia grade 2: A Danish register-based study.

INTRODUCTION: Active surveillance for cervical intraepithelial neoplasia grade 2 (CIN2) has been implemented recently in many countries, including the Nordic countries. In Denmark, the only eligibility criterion for active surveillance for CIN2 is that the woman should be of reproductive age. With this study, we aimed to evaluate clinical and socioeconomic characteristics in women with CIN2 managed by active surveillance or large loop excision of the transformation zone (LLETZ) and to evaluate temporal changes in the clinical management of CIN2. MATERIAL AND METHODS: We conducted a Danish nationwide study using data from healthcare registries. All female residents aged 18-40 years, diagnosed with incident CIN2 from January 1, 1998, to February 29, 2020, were included. We collected data on age, index cytology result, year of CIN2 diagnosis, region of residence, civil status, HPV vaccination status, and socioeconomic position indicators. The variables were tabulated overall and by management group (active surveillance vs. LLETZ). To evaluate time trends, we used joinpoint regression to calculate the annual percentage change (APC), including 95% confidence intervals (CI). RESULTS: Of the 27 536 women with CIN2 included, 12 500 (45.4%) underwent active surveillance, and 15 036 (54.6%) underwent a LLETZ. Women undergoing active surveillance were younger, more often HPV-vaccinated, and more likely to have a normal/low-grade index cytology result than women undergoing LLETZ. Socioeconomic position indicators did not differ. Over time, the proportion of women undergoing active surveillance increased from 21.7% in 2004 to 73.6% in 2019 (APC 9.7, 95% CI 8.1-11.4). The proportion of women undergoing active surveillance aged <30 declined over time (APC -2.2, 95% CI -2.9 to -1.5). The proportion of women with normal/low-grade index cytology increased slightly to 51.6% in 2019 (APC 0.8, 95% CI 0.4-1.3). CONCLUSIONS: The use of active surveillance for CIN2 has increased over the past two decades in Denmark. Observed differences in characteristics between women undergoing active surveillance vs LLETZ are likely related to indications for clinical management.

Thoracic Ultrasound as an Alternative to Chest X-ray in Thoracic Surgery Patients: A Single-Center Experience.

Background/Objectives: Chest X-ray (CXR) is currently the most used investigation for clinical follow-up after major noncardiac thoracic surgery. This study explores the use of lung ultrasound (LUS) as an alternative to CXR in the postoperative management of patients who undergo major thoracic procedures. Methods: The patients in our cohort were monitored with both a CXR and a lung ultrasonography after surgery and the day after chest drain removal. The LUS was performed by a member of the medical staff of our unit who was blinded to both the images and the radiologist's report of the CXR. Findings were compared between the two methods. Results: In the immediate postoperative evaluation, 280 patients were compared, finding general agreement between the two procedures at 84% (kappa statistic, 0.603). The LUS showed a sensibility of 84.1%, a specificity of 84.3%, a positive predictive value (PPV) of 60.9%, and a negative predictive value (NPV) of 94.8%. We evaluated 219 out of 280 patients in the postdrainage-removal setting due to technical issues. Concordance between the methods in the postdrainage-removal setting was 89% (kappa statistic, 0.761) with the LUS demonstrating an 82.2% sensibility, a 93.2% specificity, a PPV of 85.7%, and an NPV of 91.3%. Conclusions: The results of this study showed a substantial agreement between LUS and CXR, suggesting that the LUS could reduce the number of X rays in certain conditions. The high NPV allows for the exclusion of PNX and pleural effusion without the need to expose patients to radiation. Discrepancies were noted in cases of mild pneumothorax or modest pleural effusion, without altering the clinical approach.

Proposal for a complementary safety checklist for spine surgery.

INTRODUCTION: Once the World Health Oraganization (WHO) generic surgical checklist has been standardized and following the itinerary proposed, it is up to the different specialties to continue advancing in the improvement and adjustment of the checklists to their specific procedures. METHODS: Through a Failure Mode and Effects Analysis (FMEA) in which professionals from the surgical area of ​​the Torrecárdenas University Hospital, Jaén Hospital Complex and Gregorio Marañón General University Hospital participated, aspects that threaten patient safety in spine surgery and that are not included in the WHO generic surgical checklist were proposed. The authors scored each of the proposed items incrementally based on the degree of suitability. Based on the score obtained, they selected those who would be incorporated into the specific safety checklist. RESULTS: A total of twenty-one candidate items were proposed to be part of the specific check list. These obtained scores between 15 and 11 points. After scoring them, it was decided to include the thirteen best rated in the definitive surgical checklist, seven of them in the initial phase, two in the phase prior to the incision and another four in the final part of the checklist prior to the completion of the procedure. CONCLUSIONS: Professionals in the surgical area of ​​Neurosurgery can identify aspects not included in the generic checklist whose non-compliance can affect patient safety in spine surgery to at least the same extent as those included in WHO checklist. It is possible to propose a specific complementary checklist for spinal surgery, responsible for collecting aspects related to safety and success in these procedures.

Second Primary Differentiated Thyroid Carcinoma in Adult Cancer Survivors: A SEER Database Analysis.

CONTEXT: Adult cancer survivors are at a heightened risk for secondary primary differentiated thyroid carcinoma (2-DTC). The characteristics and outcomes of 2-DTC remain poorly understood. OBJECTIVE: We aim to explore the characteristics and outcomes of 2-DTC. METHODS: We retrospectively analyzed data from the SEER database (2000-2017). 2-DTC was divided into 25 subgroups based on the prior primary malignancies (PPMs). Baseline characteristics were compared using the Chi-square test. Multivariable logistic analysis was used to identified if PPMs associated with aggressive DTC characteristics. DTC-specific and cancer-specific mortality were analyzed using univariable and multivariable competing risk regression model. RESULTS: There were 138,555 1-DTC and 9,253 2-DTC patients were identified. 2-DTC patients were predominantly older, male, and white compared to first primary DTC (1-DTC) (all P < 0.05). In multivariable logistic regression analysis, only four types of PPMs were associated with higher rates of DTC aggressive characteristics, while 19 types exhibited lower rates (all P < 0.05). In multivariable competing risk analysis, 2-DTC showed no mortality risk in stages I (SHR: 1.16, 95% CI: 0.65-2.07) and II (SHR: 0.67, 95% CI: 0.45-1.01), but a protective role in stages III (SHR: 0.47, 95% CI: 0.27-0.83) and IV (SHR: 0.72, 95% CI: 0.52-0.99). Most PPMs that developed into 2-DTC had a lower risk of DTC-specific death than 1-DTC, but many PPMs had a higher risk of cancer-specific death. CONCLUSIONS: Given the characteristics and outcomes of 2-DTC, aggressive treatment for 2-DTC, particularly for PPM with a high mortality risk, may not be advisable.

Management for persistent HPV infection and cervical lesions among women infected with HIV: a retrospective observational cohort study.

BACKGROUND: Early diagnosis and treatment of HPV persistent infection and cervical intraepithelial neoplasia, which have yet to be thoroughly characterized in Guangxi, Southwestern China, are the key preventative measures for the development of cervical cancer in women, particularly in HIV-infected women. METHODS: A retrospective study of 181 patients with HPV infection or cervical intraepithelial neoplasia who received surgical excision of lesions and were prospectively enrolled at the Fourth People's Hospital of Nanning between January 2018 and February 2023 was performed. HPV-infected patients were divided into two subgroups: HIV-infected and HIV/HPV-coinfected patients and compare differences between these groups. RESULTS: HPV16, 18, 52, and 58 were the most prevalent HPV genotypes. High-risk HPV was significantly co-infected with multiple genotypes (P = 0.0332). HIV-infected women were predisposed to HPV infection (P < 0.0001), and the development of cervical cancer at a young age (P = 0.0336) compared to HIV-uninfected women and the loop electrosurgical excision procedure (P = 0.0480) is preferred for the treatment. CONCLUSIONS: HIV infection may increase HPV prevalence and lead to cervical cancer development at a young age. The loop electrosurgical excision procedure is an efficient evaluation and treatment strategy for HIV-infected women suffering from cervical intraepithelial neoplasia.

Contemporary Insights Into HIV Esophagitis: Pathogenesis, Therapeutic Strategies, and Prognostic Outcomes.

Opportunistic infections caused by various bacteria, viruses, fungi, or parasites can cause esophagitis. The fungus Candida albicans is often believed to be the thief behind this disorder. This condition's distinctive signs include the process of inflammation and the development of esophageal ulcers. The underlying immunodeficiency condition in HIV/AIDS patients, especially those in the late stages of the disease, may lead to severe illness or even death if the lowered immune system can no longer combat common infections. These individuals are, therefore, more at risk of contracting diseases like Candidiasis since they already have weakened immune systems. Furthermore, bacteria and mycobacteria can cause esophagitis in the same way that viruses can. Tobacco use, alcohol drinking, and nutritional deficiency are three additional problems that can lead to an HIV esophagitis infection. Complaints of inability to swallow, suffocating feeling or discomfort behind the breastbone, and painful swallowing are the primary symptoms of the patients. White plaques or ulcers observed in the esophagus during an endoscopy can be biopsied for further examination. The presence of C. albicans hyphae and inflammatory infiltrates in these samples confirms the diagnosis of HIV-associated esophagitis. Treatment involves the use of antifungal medications and addressing any underlying causes of esophagitis, which is linked to AIDS. For superficial to moderate infections, fluconazole is typically used first. If the disease is severe or recurs after treatment, intravenous amphotericin B may be necessary. Patients with recurring oral symptoms of HIV esophagitis might also need to take antifungal drugs as a preventative measure.

Revisiting the Relationship Between Tumor Size and Risk in Well-Differentiated Thyroid Cancer.

Introduction: Large tumor size is associated with poorer outcomes in well-differentiated thyroid cancer, yet it remains unclear whether size >4 cm alone confers increased risk, independent of other markers of aggressive disease. The goal of this study was to assess the relationship between tumor size, other high-risk histopathological features, and survival in well-differentiated thyroid cancer and to evaluate the significance of 4 cm as a cutoff for management decisions. Methods: Patients with well-differentiated thyroid cancer were identified from the National Cancer Database (2010-2015) and categorized by tumor size (i.e., small [≤4 cm] or large [>4 cm]) and presence of high-risk histopathological features (e.g., extrathyroidal extension). First, propensity score matching was used to identify patients who were similar across all other observed characteristics except for small versus large tumor size, and a multivariable Cox proportional hazards model was used to estimate the relationship between tumor size and survival. Second, we assessed whether the presence of high-risk features demonstrates conditional effects on survival based on the presence of tumor size >4 cm using an interaction term. Finally, additional models assessed the relationship between incremental 1 cm increases in tumor size and survival. Analyses were repeated using a validation cohort from the Surveillance, Epidemiology, and End Results Program (2008-2013). Results: Of 193,133 patients in the primary cohort, 7.9% had tumors >4 cm, and 30% had at least one high-risk feature. After matching, tumor size >4 cm was independently associated with worse survival (HR 1.63, p < 0.001). However, tumor size >4 cm and one or more other high-risk features together yielded worse survival than either size >4 cm alone (MMD: 0.70, p < 0.001) or other high-risk features alone (MMD: 0.49, p < 0.001). When assessed in 1 cm increments, the largest increases in hazard of death occurred at 2 cm and 5 cm, not 4 cm. Results from the validation cohort were largely consistent with our primary findings. Conclusions: Concomitant high-risk features confer worse survival than large tumor size alone, and a 4 cm cutoff is not associated with the greatest increase in risk. These findings support a more nuanced approach to tumor size in the management of well-differentiated thyroid cancer.

Clinical impact of using [18F]AlF-NOTA-octreotide PET/CT instead of [68Ga]Ga-DOTA-SSA PET/CT: Secondary endpoint analysis of a multicenter, prospective trial.

[18F]AlF-NOTA-octreotide ([18F]AlF-OC) is a promising alternative for [68Ga]Ga-DOTA-somatostatin analogs (SSAs) in positron emission tomography (PET) imaging of the somatostatin receptor (SSTR). Our aim is to assess changes in TNM staging and differences in patient management between [18F]AlF-OC PET/CT and [68Ga]Ga-DOTA-SSA PET/CT in the work-up of neuroendocrine tumor (NET) patients. Patients who underwent both [18F]AlF-OC and [68Ga]Ga-DOTA-TATE or [68Ga]Ga-DOTA-NOC PET/CT in our multicenter study (Pauwels et al., J Nucl Med.2023;63:632-638) with a NET were included for analysis. TNM staging was determined and compared for both tracers. For each patient, the blinded [68Ga]Ga-DOTA-SSA or [18F]AlF-OC PET/CT images were presented in random order at a multidisciplinary team board. The images were presented together with clinical information and compared with previous SSTR and [18F]FDG PET/CT imaging. After a consensus decision for patient management was recorded, the board was presented with the PET/CT images from the other SSTR tracer and a decision was made for the second tracer. Differences in management were classified as major if it entailed an intermodality change and minor if it led to an intramodality change. Compared with [68Ga]Ga-DOTA-SSA, the use of [18F]AlF-OC led to a change in 16/75 patients: TNM staging changes in 10/75 patients (13.3%; downstaging in 3/10, upstaging in 7/10) and differences in clinical management were seen in 10/75 patients (13.3%), leading to a major difference in 7/10 cases and a minor change in 3/10 cases. All 10 cases with a difference in patient management between both PET tracers were caused by additional lesion detection by [18F]AlF-OC. The use of [18F]AlF-OC did not impact TNM staging or clinical management in the large majority of the patients (86.7%), further validating the potential for routine clinical use of [18F]AlF-OC PET/CT as an alternative for [68Ga]Ga-DOTA-SSA PET/CT. The trial is registered under ClinicalTrials.gov identifier NCT04552847 and EudraCT 2020-000549-15.

Interstitial Lung Abnormalities: Current Understanding.

Interstitial lung abnormalities (ILAs) are incidental findings on computed tomography scans, characterized by nondependent abnormalities affecting more than 5% of any lung zone. They are associated with factors such as age, smoking, genetic variants, worsened clinical outcomes, and increased mortality. Risk stratification based on clinical and radiological features of ILAs is crucial in clinical practice, particularly for identifying cases at high risk of progression to pulmonary fibrosis. Traction bronchiectasis/bronchiolectasis index has emerged as a promising imaging biomarker for prognostic risk stratification in ILAs. These findings suggest a spectrum of fibrosing interstitial lung diseases, encompassing from ILAs to pulmonary fibrosis.

Beauty Therapy to Support Psychosocial Recovery from Oncological Care: A Qualitative Research on the Lived Experience of Women with Breast Cancer Treated with Chemotherapy.

During the oncological care path, breast cancer patients treated with chemotherapy suffer from a number of psycho-physical changes, and appearance-related side effects are among the primary determinants of psychosocial impairment. Appropriate interventions are needed due to the fact that treatment-induced transformations have been associated with a decline in overall quality of life, interpersonal and sexual difficulties, and adverse effects on therapeutic adherence. In the framework of integrative oncology, beauty therapy is an affordable and straightforward intervention that could be used in the clinical management of breast cancer side effects. This study aims to comprehend the emotional and lived experiences of women undergoing chemotherapy after a brief beauty therapy intervention with licensed beauticians. The Interpretative Phenomenological Analysis was used as a methodological guideline. Sixteen women were purposefully recruited in a day hospital of a cancer unit, where the beauty therapy was implemented. At the end of the intervention, data were gathered using a semi-structured interview with open-ended questions. A thematic analysis was performed on verbatim transcriptions. Findings support the proposal of beauty therapy for patients undergoing chemotherapy. Assuming a relational viewpoint, beauty therapy could improve patients' feelings about themselves and the way they feel about others, even if they do not declare a specific interest in their outward appearance.

Enhancing Lung Cancer Care in Portugal: Bridging Gaps for Improved Patient Outcomes.

Lung cancer has the highest incidence and cancer-related mortality worldwide. In Portugal, it ranks as the fourth most common cancer, with nearly 6000 new cases being diagnosed every year. Lung cancer is the main cause of cancer-related death among males and the third cause of cancer-related death in females. Despite the globally accepted guidelines and recommendations for what would be the ideal path for a lung cancer patient, several challenges occur in real clinical management across the world. The recommendations emphasize the importance of adequate screening of high-risk individuals, a precise tumour biopsy, and an accurate final diagnosis to confirm the neoplastic nature of the nodule. A detailed histological classification of the lung tumour type and a comprehensive molecular characterization are of utmost importance for the selection of an efficacious and patient-directed therapeutic approach. However, in the context of the Portuguese clinical organization and the national healthcare system, there are still several gaps in the ideal pathway for a lung cancer patient, involving aspects ranging from the absence of a national lung cancer screening programme through difficulties in histological diagnosis and molecular characterization to challenges in therapeutic approaches. In this manuscript, we address the most relevant weaknesses, presenting several proposals for potential solutions to improve the management of lung cancer patients, helping to decisively improve their overall survival and quality of life.

Clinical management and outcome of head and neck paragangliomas (HNPGLs): A single centre retrospective study.

CONTEXT: Head and neck paragangliomas (HNPGLs) are rare, usually benign, slow-growing tumours arising from neural crest-derived tissue. Definitive management pathways for HNPGLs have yet to be clearly defined. OBJECTIVE: To review our experience of the clinical features and management of these tumours and to analyse outcomes of different treatment modalities. METHODS: Demographic and clinical data were obtained from The Northern Ireland Electronic Care Record (NIECR) as well from a prospectively maintained HNPGL database between January 2011 through December 2023. RESULTS: There were 87 patients; 50 females: 37 males with a mean age of 52.3 ± 14.2 years old (range 17-91 years old). 58.6% (n = 51) of patients had carotid body tumours, 25.2% (n = 22) glomus vagal tumours, 6.8% (n = 6) tumours in the middle ear, 2.2% (n = 2) in the parapharyngeal space and 1.1% (n = 1) in the sphenoid sinus. 5.7% (n = 5) of patients had multifocal disease. The mean tumour size at presentation was 3.2 ± 1.4 cm (range 0.5-6.9 cm). Pathogenic SDHD mutations were identified in 41.3% (n = 36), SDHB in 12.6% (n = 11), SDHC in 2.2% (n = 2) and SDHA in 1.1% (n = 1) of the patients. Overall treatment modalities included surgery alone in 51.7% (n = 45) of patients, radiotherapy in 14.9% (n = 13), observation in 28.7% (n = 25), and somatostatin analogue therapy with octreotide in 4.5% (n = 4) of patients. Factors associated with a significantly higher risk of recurrence included age over 60 years (p = .04), tumour size exceeding 2 cm (p = .03), positive SDHx variants (p = .01), and vagal and jugular tumours (p = .04). CONCLUSION: The majority of our patients underwent initial surgical intervention and achieved disease stability. Our results suggest that carefully selected asymptomatic or medically unfit patients can be safely observed provided lifelong surveillance is maintained. We advocate for the establishment of a UK and Ireland national HNPGL registry, to delineate optimal management strategies for these rare tumours and improve long term outcomes.

Tumor analysis of MMR genes in Lynch-like syndrome: Challenges associated with results interpretation.

BACKGROUND: Up to 70% of suspected Lynch syndrome patients harboring MMR deficient tumors lack identifiable germline pathogenic variants in MMR genes, being referred to as Lynch-like syndrome (LLS). Previous studies have reported biallelic somatic MMR inactivation in a variable range of LLS-associated tumors. Moreover, translating tumor testing results into patient management remains controversial. Our aim is to assess the challenges associated with the implementation of tumoral MMR gene testing in routine workflows. METHODS: Here, we present the clinical characterization of 229 LLS patients. MMR gene testing was performed in 39 available tumors, and results were analyzed using two variant allele frequency (VAF) thresholds (≥5% and ≥10%). RESULTS AND DISCUSSION: More biallelic somatic events were identified at VAF ≥ 5% than ≥10% (35.9% vs. 25.6%), although the rate of nonconcordant results regarding immunohistochemical pattern increased (30.8% vs. 20.5%). Interpretation difficulties question the current utility of the identification of MMR somatic hits in the diagnostic algorithm of suspected LS cases.

Patients with Spondylodiscitis following Chemoradiotherapy for Head and Neck Cancer in a Portuguese Cancer Hospital: A Case Report.

Introduction: Head and neck cancer is an umbrella term for tumor manifestations across the head and neck regions, including the oral cavity, pharynx (including the naso, oro, and hypopharynx), larynx, and sinuses. Treatment options for head and neck cancer include surgery, radiation therapy, chemotherapy, and immunotherapy, with specific treatment plans depending upon individual tumor location and staging, together with overall patient health status. Furthermore, definitive chemoradiotherapy (CRT) has emerged as a highly effective therapeutic option for locoregional advanced head and neck squamous cell cancer. However, such therapy has also been linked to the development of spondylodiscitis. Spondylodiscitis consists of an infection starting at the vertebral endplates and spreading into the intervertebral discs, typically manifesting in adults. Case Presentation and Conclusion: This case report describes our clinical team's experience in managing three separate cases of spondylodiscitis following CRT for head and neck tumors that presented at our clinic for diagnosis and treatment in order to identify predisposing factors that underlie the link between CRT and spondylodiscitis.

Microsurgical removal of supratentorial and cerebellar cavernous malformations: what has changed? A single institution experience.

BACKGROUND: Features associated with a safe surgical resection of cerebral cavernous malformations (CMs) are still not clear and what is needed to achieve this target has not been defined yet. METHODS: Clinical presentation, radiological features and anatomical locations were assessed for patients operated on from January 2008 to January 2018 for supratentorial and cerebellar cavernomas. Supratentorial CMs were divided into 3 subgroups (non-critical vs. superficial critical vs. deep critical). The clinical outcome was assessed through modified Rankin Scale (mRS) and was divided into favorable (mRS 0-1) and unfavorable (mRS ≥ 2). Post-operative epilepsy was classified according to the Maraire Scale. RESULTS: A total of 144 were considered eligible for the current study. At 6 months follow-up the clinical outcome was excellent for patients with cerebellar or lobar CMs in non-critical areas (mRS ≤ 1: 91.1 %) and for patients with superficial CMs in critical areas (mRS ≤ 1: 92.3 %). Patients with deep-seated suprantentorial CMs showed a favorable outcome in 76.9 %. As for epilepsy 58.5 % of patients presenting with a history of epilepsy were free from seizures and without therapy (Maraire grade I) at last follow-up (mean 3.9 years) and an additional 41.5 % had complete control of seizures with therapy (Maraire grade II). CONCLUSIONS: Surgery is safe in the management of CMs in non-critical but also in critical supratentorial locations, with a caveat for deep structures such as the insula, the basal ganglia and the thalamus/hypothalamus.