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BACKGROUND: Approximately 10% of pediatric malignancies are secondary to germline alterations in cancer-predisposing genes. Checkpoint kinase 2 (CHEK2) germline loss-of-function variants have been reported in pediatric cancer patients, but clinical phenotypes and outcomes are poorly described. We present our single-institution experience of pediatric oncology patients with CHEK2 germline alterations, including clinical presentations and outcomes. METHODS: Pediatric oncology patients with CHEK2 germline alterations were identified among those assessed by clinical or translational research at the Institute for Genomic Medicine at Nationwide Children's Hospital. A chart review of disease course was conducted on identified patients. RESULTS: We identified 6 patients with germline CHEK2 variants from a cohort of 300 individuals, including 1 patient with concurrent presentation of Burkitt lymphoma and neuroblastoma, 3 patients with brain tumors, 1 patient with Ewing sarcoma, and 1 patient with myelodysplastic syndrome. Three patients had a family history of malignancies. Four patients were in remission; one was undergoing treatment; one patient had developed treatment-related meningiomas. We review prior data regarding CHEK2 variants in this population, challenges associated with variant interpretation, and genetic counseling for individuals with CHEK2 variants. CONCLUSIONS: CHEK2 germline loss-of-function alterations occur in patients with a variety of pediatric tumors. Larger multicenter studies will improve our understanding of the incidence, phenotype, and molecular biology of CHEK2 germline variants in pediatric cancers.
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Background: Intracardiac thrombi (ICT) are associated with significant morbidity and mortality. Anticoagulation is the first line of treatment and may be complemented by thrombectomy or thrombolysis. However, optimal anticoagulant duration remains ill-defined. High-risk features of ICT that may warrant long-term anticoagulation therapy have not been established. Objectives: To describe anticoagulation duration and patterns of ICT resolution. To identify potential risk factors for persistent ICT despite anticoagulation. Methods: A single-institution retrospective chart review identified patients diagnosed with ICT by echocardiogram between January 2014 and March 2022. Descriptive statistics and logistic regression were used. Results: Fifty-one patients with ICT were identified. Median age at diagnosis was 9.2 years (IQR, 0.4-15.2). The most common underlying diagnoses were congenital heart disease (41%), infection (25%), and malignancy (24%). The majority of ICT were in the right atrium (n = 30). The median longest ICT dimension was 1.5 cm (range, 0.4-4.0). The median duration of anticoagulation was 4.3 months (IQR, 2.2-9.1). Among 48 patients who received anticoagulation as first-line treatment, 32 had partial or complete response with 3 to 6 months of anticoagulation, while remaining 16 patients had no response to anticoagulation. Patients with a central venous line had a delayed resolution of ICT [hazards ratio = 0.45 (95% CI, 0.22-0.93)]. Conclusion: Our study demonstrates the wide variability in duration of anticoagulation for children with ICT. Majority of the individuals benefit from 3-to-6 month treatment; however, individuals with a central venous line may benefit from a longer course of anticoagulation. Further large-scale studies are recommended to validate our findings.
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BACKGROUND: Patients with cancer prefer and positively perceive physicians who communicate face-to-face without the use of a computer. However, the use of electronic health records (EHRs) in the examination room remains a practical necessity. On the basis of existing literature, the authors developed and tested an integration model, PRIME-EHR, that focuses on the best-practice guidelines. To their knowledge, no randomized controlled trials (RCTs) have been conducted to test the effectiveness of such models. METHODS: In this double-blind, crossover RCT, 120 eligible patients with cancer were enrolled between April 1, 2019 and February 15, 2020 at The University of Texas MD Anderson Cancer Center. The objectives were to compare patients' perceptions of physicians' skills and their overall preference after they watched 2 standardized, scripted video vignettes of physicians: 1 portraying the use of a standard EHR and the other portraying the use of a PRIME-EHR. Actors and patients were blinded to the purpose of the study. Investigators were blinded to the sequence of videos watched by the patients. Validated questionnaires to rate physicians' compassion (0 = best, 50 = worst), communication skills (14 = poor, 70 = excellent), and professionalism (4 = poor, 20 = very good) were used. RESULTS: PRIME-EHR, compared with the standard EHR, resulted in better scores for physician compassion (median score, 5 [interquartile range, 0-10] vs 12 [interquartile range, 4-25]; P = .0009), communication skills (median score, 69 [interquartile range, 63-70] vs 61 [interquartile range, 50-69]; P = .0026), and professionalism (median score, 20 [interquartile range, 18-20] vs 18 [interquartile range, 14-20]; P = .0058). The majority of patients preferred physicians who used PRIME-EHR (n = 70 [77%] vs n = 21 [23%]; P < .0001). CONCLUSIONS: The PRIME-EHR approach significantly improved patients' perceptions of and preference for the physicians. This integrated model of health care delivery has the potential to improve communication and compassion in cancer care.
Assuntos
Neoplasias , Médicos , Assistência Ambulatorial , Registros Eletrônicos de Saúde , Humanos , Neoplasias/diagnóstico , Neoplasias/terapia , Percepção , Relações Médico-PacienteRESUMO
Palliative care is seeing cancer patients earlier in the disease trajectory with a multitude of chronic issues. Chronic non-malignant pain (CNMP) in cancer patients is under-studied. In this prospective study, we examined the prevalence and management of CNMP in cancer patients seen at our supportive care clinic for consultation. We systematically characterized each pain type with the Brief Pain Inventory (BPI) and documented current treatments. The attending physician made the pain diagnoses according to the International Association for the Study of Pain (IASP) task force classification. Among 200 patients (mean age 60 years, 69% metastatic disease, 1-year survival of 77%), the median number of pain diagnosis was 2 (IQR 1-2); 67 (34%, 95% CI 28-41%) had a diagnosis of CNMP; 133 (67%) had cancer-related pain; and 52 (26%) had treatment-related pain. In total, 12/31 (39%) patients with only CNMP and 21/36 (58%) patients with CNMP and other pain diagnoses were on opioids. There was a total of 94 CNMP diagnoses among 67 patients, including 37 (39%) osteoarthritis and 20 (21%) lower back pain; 30 (32%) were treated with opioids. In summary, CNMP was common in the timely palliative care setting and many patients were on opioids. Our findings highlight the need to develop clinical guidelines for CNMP in cancer patients to standardize its management.
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Haemangiomas are the most common benign tumours of the liver. Their origin lies in the proliferation of the vascular endothelium. Their growth mechanism is by dilation. They are considered giant when they exceed 5 cm at their greatest diameter. Very uncommon presentations surpass 15 cm; these are known as enormous haemangiomas. We present a case of a 54-year-old woman with an enormous haemangioma of 30 cm in diameter. A mass was present in her right upper quadrant along with dull abdominal pain for several years. It is unknown for how long the tumour had been developing. She underwent surgical management due to evident mass effect. Clinicians should be aware of the importance of early diagnosis in these types of tumours. Its erratic growth pattern, mass effect-related complications and the capacity of producing haematological abnormalities makes it an entity to be considered.