Search Results (6)

Background: Feline pulmonary Langerhans cells histiocytosis (PLCH) is a rare disorder that results in progressive respiratory failure secondary to pulmonary parenchymal infiltration with Langerhans cells (LCs). A diagnosis of PLCH is proposed based on the clinical features and pathological findings and confirmed based on the infiltrating histiocytic cells. There are few documented cases of feline PLCH, and this case report of PLCH in an African Lion could present new information and aspects of this feline histiocytic disease. Case presentation: An African lion at Hohhot Zoo showing severe hyporexia and dyspnea with subsequent mental depression and emaciation died of exhaustion after a 35-day course of illness. Empirical treatment did not have a significant effect. An autopsy revealed that the lungs were enlarged and hardened due to infiltrative lesions, with many yellowish-white foci in all the lobes and sections. Furthermore, the kidneys were atrophied and had scattered grayish-white lesions on the surface. At the same time, congestion was widely distributed in various locations, including the liver, subcutaneous loose connective tissues, serosal surface and other tissues and organs. Histologically, proliferative histiocytic cells (PHCs) were scattered in the alveolar cavities, bronchioles and submucosa of bronchioles, with evident cellular and nuclear pleomorphism, and thus the alveolar septa were obliterated. The histopathological changes in other organs included chronic sclerosing glomerulonephritis, proliferated Kupffer cells in the liver, adrenal edema and interstitial connective tissue hyperplasia, as well as atrophy of the small intestines and spleen. Furthermore, immunohistochemical analysis results were strongly positive for CD1a, vimentin, S100 and E-cadherin in the membrane or cytoplasm of PHCs, supporting an LC phenotype. Conclusions: Here, we present a rare pulmonary Langerhans cell histiocytosis case in an African lion. Full article

Background: Smoking habit is a common cause of pulmonary Langerhans cell histiocytosis (PLCH) and lung cancer and both diseases may coexist in the lung and share genetic alterations, such as V600E BRAF mutations. We collected a small series of three cases of PLCH-associated lung adenocarcinoma in order to evaluate the molecular setup in both components and underline the critical role of careful tissue selection for predictive molecular driver testing. Methods: Three cases of PLCH-associated adenocarcinoma were collected from consultation files. Clinical data from referring physicians and clinical data were obtained. The surgical biopsies were tested by immunohistochemistry and molecular analysis after separate dissection of adenocarcinoma cells and Langerhans histiocytes. Results: There were three active smoking men with a median age at diagnosis of 60.6 years. PLCH was disclosed at imaging during work-up for suspected lung cancer. Molecular analysis revealed KRAS (G12C and G13C) mutations in two cases and V600E BRAF mutation in one case of PLCH. Immunostaining with the V600E BRAF mutation specific primary antibody VE1 correctly recognized BRAF-mutated LCH. One case was wild-type in both diseases. Two similar cases were found in the literature, one of which showed a discrepant KRAS (G12D) mutation in adenocarcinoma and a V600E BRAF mutation in LCH; Conclusions: This case series of PLCH-associated adenocarcinoma underline the possibility to disclose identical genetic alterations in co-existing benign and malignant pathologies, then potentially creating erroneous interpretation of molecular analysis leading to inadequate therapeutic options in case of incorrect diagnostic recognition and inappropriate selection of both components through microdissection. Full article

Pulmonary Langerhans cell histiocytosis (PLCH) is an uncommon diffuse cystic lung disease that occurs almost exclusively in young adult smokers. High-resolution computed tomography of the chest allows a confident diagnosis of PLCH in typical presentation, when nodules, cavitating nodules, and cysts coexist and show a predominance for the upper and middle lung. Atypical presentations require histology for diagnosis. Histologic diagnosis rests on the demonstration of increased numbers of Langerhans cells and/or specific histological changes. PLCH is one of the few diseases in which bronchoalveolar lavage (BAL) has a high diagnostic value and can in some circumstances replace lung biopsy. We present a case of PLCH in an elderly non-smoker. Chest imaging revealed the presence of advanced interstitial lung disease with a fibrocystic pattern. BAL cellular analyses disclosed a macrophage pattern with CD1a phenotype that strongly supports the PLCH diagnosis, even in the setting of atypical clinical presentation and a lack of smoking exposure. PLCH is extremely rare in non-smokers and could represent a distinct phenotype. Full article

Background: Fibrosis in pulmonary Langerhans cell histiocytosis (PLCH) histologically comprises a central scar with septal strands and associated airspace enlargement that produce an octopus-like appearance. The purpose of this study was to identify the octopus sign on high-resolution computed tomography (HRCT) images to determine its frequency and distribution across stages of the disease. Methods: Fifty-seven patients with confirmed PLCH were included. Two experienced chest radiologists assessed disease stages as early, intermediate, or late, as well as the lung parenchyma for nodular, cystic, or fibrotic changes and for the presence of the octopus sign. Statistical analysis included Cohen’s kappa for interrater agreement and Fisher’s exact test for the frequency of the octopus sign. Results: Interobserver agreement was substantial for the octopus sign (kappa = 0.747). Significant differences in distribution of the octopus sign between stages 2 and 3 were found with more frequent octopus signs in stage 2 and fewer in stage 3. In addition, we only found the octopus sign in cases of nodular und cystic lung disease. Conclusions: The octopus sign in PLCH can be identified not only on histological images, but also on HRCT images. Its radiological presence seems to depend on the stage of PLCH. Full article

Introduction: The alpha-1 antitrypsin deficiency (A1ATD) is one of the three most common genetic disorders in Caucasians. It considerably increases the risk of progressive obstructive lung diseases, mostly chronic obstructive pulmonary disease. There is no data regarding the prevalence of main, clinically most important A1ATD alleles PI*Z and PI*S in patients with pulmonary Langerhans cell histiocytosis (PLCH). PLCH is not only strongly linked to the cigarette smoking, but is also characterised by polycystic lung lesions. The goal of the study was to assess the incidence of A1ATD alleles in patients with PLCH. Material and methods: Blood samples were collected from 34 adult patients (14 women and 20 men), with histologically confirmed PLCH. AAT serum concentration was assessed by nephelometry and PI-phenotype, identified by isoelectrofocusing. The PI*S and PI*Z alleles were confirmed by genotyping using real-time PCR. Results: Deficiency alleles PI*Z and PI*S were detected in 3 patients (one woman and 2 men), in 5.88% and 2.94%. The estimated incidence of deficiency alleles was 29.4/1000 (95% CI; 10–69.5) for PI*Z and 14.7/1000 (95%CI; 13.9–43.3) for PI*S. According to our previous reports, the expected prevalence of PI*Z and PI*S alleles in the general Polish population was 13.7/1000 (95% CI 5.8–21.5), and 7.6/1000 (95% CI 1.7–13.5) respectively. Conclusions: The incidence of main A1AT deficiency alleles in patients with PLCH seems higher than in the general Polish population. The study is ongoing. Full article

Pulmonary Langerhans' cell histiocytosis (PLCH) is a rare disorder of unknown cause characterised by the infiltration of the lungs and other organs by the bone marrow derived Langerhans' cells, which carry mutations of BRAF gene and/or NRAS, KRAS and MAP2K1 genes. It occurs predominantly in young smokers, without gender predominance. The disease is characterised by formation of eosinophilic granulomas with the presence of Langerhans' cells infiltrating and destroying distal airways. High-resolution computed tomography of the chest (HRCT) plays an outstanding role in PLCH diagnosis. The typical radiological picture of PLCH is the presence of small intralobular nodules, often forming 'tree in bud' lesions, cavitated nodules, thin- and thick-walled cystic lesions frequently confluent. Definite diagnosis requires the finding of characteristic lesions in histological examination and demonstration of antigen CD1a or CD207 presenting cells in immunohistochemistry. Smoking cessation is the most important recommendation for PLCH patients. There are no evidence based data regarding systemic steroid therapy. The treatment of progressive PLCH is based on cladribine or cytarabine as salvage therapy. The prognosis is good, and over 85% of patients survive 10 years. Full article