Internal medicine
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Review Case Reports
Vimentin-positive and Alpha-fetoprotein-elevated Nuclear Protein of the Testis Midline Carcinoma: A Case Report and Review of the Literature.
Nuclear protein of the testis (NUT) midline carcinoma (NMC) is a rare malignant tumor expressing NUT with BRD4/3 rearrangements and is sometimes misdiagnosed as germinoma, especially in alpha-fetoprotein (AFP)-elevated cases. A 28-year-old man had a mediastinal tumor with multiple bone metastases and elevated AFP levels. Imaging/laboratory findings led to a pathological diagnosis of extragonadal germinoma. ⋯ A posthumous examination clarified the NUT rearrangement. Even in cases with characteristic findings, such as elevated AFP levels and vimentin positivity, NMC should be considered as a differential diagnosis. We note, however, that adriamycin-ifosfamide has some efficacy in such cases.
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Objective Recent studies have found higher rates of autoimmune diseases, such as celiac disease, Crohn's disease, and ulcerative colitis, in patients with eosinophilic esophagitis (EoE) than in the general population. This study investigated the concomitant rate of autoimmune disease among Japanese patients with EoE and evaluated the clinicopathological characteristics of EoE patients with autoimmune disease. Methods The medical records of patients diagnosed with EoE between April 1, 2016, and June 30, 2020, were reviewed. ⋯ No complications, including stenosis, were seen in EoE with autoimmune disease, and most patients with EoE and autoimmune diseases were responsive to proton pump inhibitors (PPIs). Conclusion In this study, 8 out of 64 patients with EoE had an autoimmune-related disease, including ulcerative colitis (n=1, 1.6%), autoimmune polyendocrine syndrome type 2 (n=1, 1.6%), or endometriosis (n=6, 44.4% of women of reproductive age), which is higher than that previously reported in the general population. Further investigations are required to clarify the relationship between EoE and autoimmune diseases.
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Case Reports
A Case of Yellow Nail Syndrome in Which Intranodal Lymphangiography Contributed to the Diagnosis.
Yellow nail syndrome (YNS) is a rare disease comprising the clinical triad of yellow nail discoloration, pleural effusion, and lower limb lymphedema. We encountered a difficult-to-treat case of YNS in which the diagnosis was finally made based on intranodal lymphangiography. An 84-year-old man was admitted to our hospital with pleural effusion and yellow-green discoloration of the nails, accompanied by onychomycosis and limb lymphedema. Intranodal lymphangiography revealed a slow contrast flow and narrowing of the thoracic duct, suggesting lymphatic duct dysplasia and leading to the diagnosis of YNS.
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A 70-year-old man with multicentric Castleman disease (MCD) was admitted to our hospital with jaundice and ascites. Elevations in his bilirubin and interleukin-6 levels were noted, and computed tomography revealed hepatic atrophy and portal vein and bile duct disorders. ⋯ Mild infiltration of interleukin-6-positive plasma cells was noted in the highly fibrotic area of the liver. Although rare, liver and biliary tract damage may be also considered organ disorders of MCD.
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Case Reports
Acute Megakaryoblastic Leukemia Harboring a Subclone Expressing BCR-ABL1 Fusion Gene Product.
Acute myeloid leukemia (AML) with BCR-ABL1, also termed Philadelphia chromosome-positive AML (Ph+ AML), is a rare leukemia subtype classified by the World Health Organization in 2016. The characteristics of Ph+ AML have not been fully identified yet. ⋯ This case suggests that BCR-ABL1 was acquired as a subclone due to a secondary event that might have occurred late during leukemia evolution. Our findings may aid in deciphering the mechanism underlying Ph+ AML development in future studies.