Internal medicine
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We herein report two cases of thymic cancer with Lynch syndrome showing a high frequency of microsatellite instability and loss of mismatch repair protein expression without MLH1 promoter hyper-methylation. In Case 1, a 71-year-old man had a pathogenic germline variant in MLH1 and underwent tumor resection. ⋯ In Case 2, a 43-year-old man underwent genetic testing that also showed a pathogenic germline variant in MLH1. Since these two cases had MLH variants, we suspect a possible association between thymic cancer with Lynch syndrome and germline pathogenic variants in MLH1.
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Angioimmunoblastic T-cell lymphoma (AITL) is an intractable type of T-cell lymphoma. We and others have identified that the p. Gly17Val RHOA mutation is specifically identified in AITL. ⋯ Gly17Val RHOA mutation as well as T-lineage cells with an aberrant immune-phenotype in the pericardial effusion. This case suggests that a precision medicine approach by detecting the presence of a p. Gly17Val RHOA mutation is useful for the management of AITL.
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Familial Mediterranean fever (FMF) is an inherited autoinflammatory disease associated with the MEFV gene. FMF is common in Mediterranean peoples but not highly recognized in Japan. ⋯ Patients with a confirmed diagnosis of FMF may be eligible for physical, emotional, and financial benefits. Therefore, the COVID-19 pandemic highlights the importance of differentiating the diagnosis by genetic testing.
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Objective This study examined the ability of a combination of biomarkers, including N-terminal pro-B-type natriuretic peptide (N-BNP) and high-sensitivity C-reactive protein (hs-CRP), to better predict mortality than the Global Registry of Acute Coronary Events (GRACE) score in acute myocardial infarction (AMI) patients who received primary percutaneous coronary intervention (PPCI). Methods The in-hospital mortality in 754 all-comer patients with AMI who underwent successful PPCI over 8 years was examined. A receiver operating characteristic (ROC) analysis was performed to determine the in-hospital mortality in a single center. ⋯ The area under the ROC curve (AUC) of in-hospital mortality of the GRACE score was significantly higher than that of the dual-biomarker combination (0.868/0.720; p<0.05). The AUC of the combination of the GRACE score and dual-biomarkers was not significantly higher than that of the GRACE score alone (0.870/0.868; p=0.747). Conclusion The measurement of representative cardiovascular biomarkers did not provide any additional benefit for mortality prediction beyond the GRACE score in AMI patients who received PPCI.
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Acquired von Willebrand syndrome (aVWS) develops with various underlying diseases. We herein report an individual with aVWS associated with mucosa-associated lymphoid tissue lymphoma in the lungs complicated by hyperviscosity syndrome, Sjögren's syndrome, and hypothyroidism. ⋯ Thus, lymphoma and hyperviscosity might result in aVWS. Invasive procedures with a risk of bleeding should be avoided in individuals with aVWS.