Coatomer subunit alpha (COPA) syndrome is an autoinflammatory disease with autoimmune and autoinflammatory manifestations affecting lungs, joints, and kidneys. COPA syndrome is caused by heterozygous loss-of-function mutations in COPA gene, encoding α subunit of coatmer protein complex I (COP-I) coated vesicles. Mutant COPA induces constitutive activation of stimulator of interferon genes, leading to systemic inflammation and elevated type I interferon response. We have previously reported a Japanese family of COPA syndrome with a novel V242G mutation. Two out of four patients required lung transplantation due to intractable interstitial lung disease and respiratory failure. Both of them deceased after lung transplantation, one due to sepsis and the other due to allograft dysfunction possibly caused by the reccurent interstitial lung disease. The literature review indentified unfavorable outcome of the solid organ transplant in COPA syndrome and its related disease, however, precise clinico-pathological description of these cases has been scarce. Here, we report in detail the clinical course of our cases to clarify the pathophysiology of allograft dysfunction in COPA syndrome and propose potential therapeutic approaches to improve post-transplant graft survival.
Aims —To investigate the clinicopathological differences among gastric low grade MALT lymphomas (low MALT), large B cell lymphomas with low grade components (secondary high grade MALT lymphomas, high MALT), and diffuse large B cell lymphomas without low grade features (primary high grade MALT lymphomas, DLL). Methods —Clinicopathological and morphological characters of 126 gastric lymphoma cases were studied: 82 cases of low MALT lymphoma including 40 that were surgically resected, 17 cases of high MALT lymphoma including 13 surgically resected, and 27 cases of DLL including 12 surgically resected. Results —Age ranges were as follows: low MALT lymphoma, 34 to 85 years (mean 59.9); high MALT lymphoma, 53 to 88 years (mean 68.5); DLL, 29 to 83 years (mean 62.3). The average age for low and high MALT lymphomas was significantly different (p < 0.05), but there were no differences in other comparisons. There was a female predominance of low MALT lymphoma patients (female to male ratio, 47/35), while for high MALT patients the ratio was almost even (8/9), and for DLL patients there was a male predominance (11/16). Examination of surgically resected material showed that MALT lymphomas had a wider distribution in the gastric wall than DLL. Conclusions —The findings suggest that at least some of the high grade gastric lymphomas, especially in patients younger than the fifth decade, do not originate from high grade transformation of low MALT lymphomas. It seems to take about one decade at least for high grade transformation of low MALT lymphomas.
We describe an unusual case of adult T-cell leukemia/lymphoma (ATL) appearing in a 44-year-old female without leukemic change and systemic lymphadenopathy, which originated from the gastric wall and partially involved the paragastric lymph nodes. No other intraabdominal or intrathoracic organs, such as the liver, spleen, kidneys, adrenals, lungs, or bone marrow, were involved at the time of surgery. The clinical stage of this case was evaluated as IIE according to the Ann Arbor classification. Lymphoma cells were CD3+, CD4+, CD8-, and CD79a-. Southern blot analysis revealed monoclonal integration of proviral DNA from human T-cell leukemia virus type I. Interestingly, the lymphoma cells formed 'lymphoepithelial lesions' which are usually observed in gastric mucosa-associated lymphoid tissue (MALT) B-cell lymphomas. A rare pattern involving ATL cells and the presence of lymphoepithelial lesions in this case indicated a diagnostic pitfall of gastric MALT lymphoma.
A 63-year-old stoneworker complained of fever and a productive cough. His chest roentgenogram showed a nodular mass and a diffuse interstitial shadow in the right lung. Angiography of the pulmonary artery revealed obstruction of the right upper trunk. Open-lung biopsy was done. Histologic examination showed mixed-dust pneumoconiosis with a massive focus of mixed-dust fibrosis with silicotic nodules, and diffuse interstitial fibrosis of pattern with lymphoid infiltration. Chemical analysis revealed a high content of aluminum in lymph node, which was thought to be due to inhalation of alumina used for lettering stones. The unilateral interstitial pneumonia was thought to have developed due to deposition of free silica and aluminum dust. Although this patient had been given a diagnosis of rheumatoid arthritis and the value of rheumatoid factor was high, the interstitial pneumonia was not believed to be associated with the collagen vascular disease.
The sensitivity and specificity of single cell polymerase chain reaction (PCR) were studied. Its high sensitivity enabled detection of a single-copy gene, such as human T-lymphotropic virus type I genome in paraffin sections. The rate of obtaining positive signals with this method was affected by the number of copies of the gene in the target cell. Specificity was satisfactory if the procedure was properly and carefully followed. Since the single cell PCR is a time-consuming method which requires skill and experience to pick up the target cells accurately, the applicability of this method is limited. It works best when it is used to analyze a single or a few copy genes in histologically identified cells.
