Clinical Pathology最新文献

{"title":"The First Case of Coxiella Burnetti Infection Detected Through Bone Marrow Biopsy in Vietnam","authors":"Do Thi Vinh An, Bui Thi Viet Ha, Dao Xuan Co, Vu Minh Tam, Le Thi Diem Tuyet, Vu Van Truong","doi":"10.1177/2632010X221096397","DOIUrl":"https://doi.org/10.1177/2632010X221096397","url":null,"abstract":"Coxiella burnetii is an obligate intracellular bacterium that causes the zoonotic infectious disease, Q fever. The common clinical presentation is fever, hepatitis, and pneumonia; laboratory examination could reveal pancytopenia, elevated liver enzymes. In bone marrow, many fibrin ring granulomas, also known as “Doughnut” granulomas can be seen and suggest the diagnosis of Q fever. However, these bone marrow granulomas can also be presented in infectious diseases by other pathogens such as EBV, CMV, and HBV; therefore, other serology or PCR—based tests are needed to confirm the diagnosis of Q fever. We report the first case of acute Q fever in Vietnam, presented as a fever of unknown origin with hepatitis in a 53-year-old male patient. A bone marrow biopsy was performed and showed various fibrin ring granulomas; therefore, Coxiella was suspected and the diagnosis was confirmed by PCR. Some infectious diseases can cause specific changes in the bone marrow, such as Doughnut granulomas in Q fever. These features can help direct the diagnosis and decide earlier treatment for the patient.","PeriodicalId":53204,"journal":{"name":"Clinical Pathology","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47751492","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Molecular Signatures of KRAS-Mutated Lung Adenocarcinoma: Analysis of Concomitant EGFR, ALK, STK11, and PD-L1 Status","authors":"Jim Hsu, Joseph F Annunziata, E. Burns, E. Bernicker, R. Olsen, Jessica S. Thomas","doi":"10.1177/2632010X221102054","DOIUrl":"https://doi.org/10.1177/2632010X221102054","url":null,"abstract":"Background: KRAS mutations are the most common oncogenic driver mutations of non-small cell lung cancer (NSCLC) in the Western world. Mutations of the KRAS gene are most prevalent in the patient population of current and former cigarette smokers. With the recent pivotal approval of a targeted inhibitor therapy for patients with KRAS p.G12C mutated and pretreated NSCLC, analysis of the heterogeneity of KRAS mutations and concomitant molecular alterations in patients with these tumors at all clinical stages is indicated. Methods: In this retrospective analysis, patient pathology records were reviewed for all cases receiving a pathologic diagnosis of NSCLC within our hospital system. All data were collected with IRB approval. Cases of indeterminate tumor type favoring a non-lung primary, as well as non-adenocarcinoma NSCLC (eg, squamous) were excluded from the cohort. In this hospital system, molecular testing for KRAS mutations is part of a molecular biomarker panel that is reflex ordered at initial diagnosis by the pathologist and may be performed as a single gene test or as a solid organ cancer hotspot panel by next generation sequencing. For each patient, KRAS mutational status and specific KRAS mutations, if present, were collated. Additional information assessed for this study included patient demographics (age, gender, and smoking history), tumor staging if available, PD-L1 expression levels by immunohistochemistry (IHC), and the presence of other genetic alterations (EGFR, ALK, and STK11). Results: Between January 1, 2017 and January 1, 2019, there were 276 patients diagnosed with NSCLC of all stages who had KRAS mutational analysis performed in our hospital system and who met the criteria for inclusion into the study cohort. A KRAS driver mutation was detected in 29% of these patients. The most frequently identified KRAS mutation was p.G12C (38%), followed by p.G12D (21%) and p.G12V (13%). KRAS-mutated lung adenocarcinoma was significantly associated with current or former patient smoking status in this cohort (29/202 (14%) smokers and 1/74 (1%) non-smokers; P = .0006). PD-L1 expression of at least 1% by IHC was present in 43% of KRAS-mutated lung adenocarcinomas and 45% of non-KRAS-mutated adenocarcinomas. In this study, KRAS mutations were not found to co-occur with gene alterations in EGFR, ALK, or STK11. In 48% of cases, at least one genetic alteration (KRAS, ALK, EGFR, or STK11) was identified. Conclusions: In this study cohort, KRAS-mutated lung adenocarcinoma demonstrated significant mutational heterogeneity, which is consistent with previously published studies. KRAS mutational status was also significantly associated with a current or former smoking history. Notably, p.G12C was the most frequently identified KRAS mutation in this cohort, with a frequency of 38%. This finding is particularly relevant given the recent approval of a KRAS p.G12C-specific targeted inhibitor therapy and the continued development of additional KRAS target","PeriodicalId":53204,"journal":{"name":"Clinical Pathology","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44494923","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Non Hodgkin Lymphoma Among Children: Pathological Aspects and Diagnostic Challenges","authors":"S. Derqaoui, I. Boujida, Oussama Marbouh, L. Rouas, L. Hessissen, N. Lamalmi","doi":"10.1177/2632010X221090156","DOIUrl":"https://doi.org/10.1177/2632010X221090156","url":null,"abstract":"Non-Hodgkin lymphoma (NHL) are common malignancies in children. Available data on clinico-pathological aspects of pediatric NHL in developping countries are limited and diagnostic approach appears more delicate with absence of molecular studies. The objectives of our study are: analyzing the pathological spectrum of NHL among children and highlighting challenges in the diagnosis including: limited biopsic material; unususal subtyptes, age group, or localization. We retrospectively analyzed clinico pathological characteristics of 101 NHL’s cases among children diagnosed in the Pediatric’s pathology unit over a period of 4 years There were 78 (77.2%) male and 23 (22.8%) female. The median age was 7.2 years. The most common histologic subtypes of NHL were Burkitt lymphoma in 65 patients (64.4% ); followed by lymphoblastic lymphoma in 22 patients, large B-cell lymphoma in 9 patients ( 8.9%); anaplastic T cell lymphoma in 3 patients; NOS mature T cell lymphoma and pediatric type follicular lympoma in 1 patient each. In conclusion, this study Morocco illustrates the pattern of distribution of NHL and emphasizes challenges in the diagnosis of these neoplasms.","PeriodicalId":53204,"journal":{"name":"Clinical Pathology","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47142323","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hyperargininemia Due to Arginase 1 Deficiency: Variability in Clinical and Biochemical Presentations in Malaysian children","authors":"A. Habib, Norashareena Mohamed Shakrin","doi":"10.1177/2632010x221093274","DOIUrl":"https://doi.org/10.1177/2632010x221093274","url":null,"abstract":"Objective: Hyperargininemia due to Arginase 1 deficiency is a rare inborn error of the urea cycle with an incidence estimated at 1:950 000. It has typical severe and progressive abnormal neurological features with biochemical findings of hyperargininemia and hyperexcretion of orotic acid. The aim of our study is to review the clinical and biochemical presentations of 4 children diagnosed with Arginase 1 deficiency in Malaysia and compare with the literature review. Design and Methods: We retrospectively reviewed the medical records of 4 patients with molecularly confirmed Arginase 1 deficiency. Patients were identified from a selective high-risk screening of 51 682 symptomatic patients from January 2006 to December 2020. Results: Our patients exhibited heterogeneous clinical presentations with acute and progressive neurological abnormalities and varying degrees of plasma arginine and urine orotic acid excretions. Interestingly, an unusual hyperexcretion of homocitrulline was found in 3 patients. Conclusions: Hyperargininemia due to Arginase 1 deficiency can present acutely and hyperexcretion of homocitrulline can be an additional biochemical feature of Arginase 1 deficiency.","PeriodicalId":53204,"journal":{"name":"Clinical Pathology","volume":"15 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41701818","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Is the Presence of Helicobacter Pylori in the Colonic Mucosa, Provocative of Activity in Ulcerative Colitis?","authors":"Javad Ranjbar, B. Geramizadeh, K. Bagheri Lankarani, Z. Jowkar, M. Mirzai, E. Moazamian","doi":"10.1177/2632010X221096660","DOIUrl":"https://doi.org/10.1177/2632010X221096660","url":null,"abstract":"Background: Epidemiologic studies have shown world-wide increasing incidence of ulcerative colitis (UC) as an autoimmune disease of intestine. In the meantime, gastrointestinal H. Pylori infection is being decreased. Objectives: There are very few studies about comparing the presence of H. Pylori in the colon and the disease activity of UC. There is no study form Iran. In this study, we tried to investigate the presence of H. Pylori in the mucosa of colon by molecular and microbiological as well as pathological methods to find any association between the presence of this organism in the colon and the presence and activity of UC. Patients and Methods: In 100 patients who referred to colonoscopy clinic, colonoscopy was performed. Fifty-seven patients with the new diagnosis of UC were considered as cases and 43 patients with normal screening colonoscopy for polyps were considered as controls. Colon biopsies were evaluated according to histopathology, clinical findings, and laboratory results to confirm the diagnosis and the degree of activity in the cases of UC. Molecular studies were also performed to evaluate the presence of H. Pylori genome in the colon biopsies. A sample of colon was also cultured for H. Pylori. ELISA test was performed in a sample of blood to evaluate the level of IL-10 and IL-17 as regulatory cytokines of inflammation. Results: Cases with the diagnosis of UC showed significantly higher number of positive colonic H. Pylori comparing to normal colonic mucosa. Also, the presence of H. Pylori genome in the colon was associated with higher activity in the cases with UC and higher levels of inflammatory mediators especially IL17 and lower levels of inhibitory mediators such as IL-10. Conclusion: Colonic colonization of H. Pylori was higher in the patients with UC and higher activity of this disease comparing with normal control colonic mucosa.","PeriodicalId":53204,"journal":{"name":"Clinical Pathology","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43642547","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Retraction Notice: Heterogeneous Longitudinal Antibody Responses to Covid-19 mRNA Vaccination","authors":"S. Monte, Christine E. Long, Nicole Szczepanski, Christopher Griffin, A. Fitzgerald, K. Chapin","doi":"10.1177/2632010X221098313","DOIUrl":"https://doi.org/10.1177/2632010X221098313","url":null,"abstract":"BACKGROUND: Public health measures to stem the coronavirus disease 2019 (COVID-19) pandemic are challenged by social, economic, health status, and cultural disparities that facilitate disease transmission and amplify its severity. Prior pre-clinical biomedical technologic advances in nucleic acid-based vaccination enabled unprecedented speed of conceptualization, development, production, and widespread distribution of mRNA vaccines that target SARS-CoV-2’s Spike (S) protein. DESIGN: Twenty-five female and male volunteer fulltime employees at the Providence VA Medical Center participated in this study to examine longitudinal antibody responses to the Moderna mRNA-1273 vaccine. IgM-S and IgG-S were measured in serum using the Abbott IgMS-Qualitative and IgG2-S-Quantitative chemiluminescent assays. RESULTS: Peak IgM responses after Vaccine Dose #1 were delayed in 6 (24%) and absent in 7 (28%) participants. IgG2-S peak responses primarily occurred 40 to 44 days after Vaccine Dose #1, which was also 11 to 14 days after Vaccine Dose #2. However, subgroups exhibited Strong (n = 6; 24%), Normal (n = 13; 52%), or Weak (n = 6; 24%) peak level responses that differed significantly from each other (P < .005 or better). The post-peak IgG2-S levels declined progressively, and within 6 months reached the mean level measured 1 month after Vaccine Dose #1. Weak responders exhibited persistently low levels of IgG2-S. Variability in vaccine responsiveness was unrelated to age or","PeriodicalId":53204,"journal":{"name":"Clinical Pathology","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49578773","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Infrared Spectroscopic Analysis in the Differentiation of Epithelial Misplacement From Adenocarcinoma in Sigmoid Colonic Adenomatous Polyps","authors":"J. Nallala, R. Griggs, G. Lloyd, N. Stone, N. Shepherd","doi":"10.1177/2632010X221088960","DOIUrl":"https://doi.org/10.1177/2632010X221088960","url":null,"abstract":"Purpose: The differential diagnosis of epithelial misplacement from invasive cancer in the colon is a challenging endeavour, augmented by the introduction of bowel cancer population screening. The main aim of the work is to test, as a proof-of concept study, the ability of the infrared spectroscopic imaging approach to differentiate epithelial misplacement from adenocarcinoma in sigmoid colonic adenomatous polyps. Methods: Ten samples from each of the four diagnostic groups, normal colonic mucosa, adenomatous polyps with low grade dysplasia, epithelial misplacement in adenomatous polyps and adenocarcinoma, were analysed using IR spectroscopic imaging and data processing methods. IR spectral images were subjected to data pre-processing and cluster analysis based segmentation to identify epithelial, connective tissue and stromal regions. Statistical analysis was carried out using principal component analysis and linear discriminant analysis based cross validation, to classify spectral features according to the pathology, and the diagnostic attributes were compared. Results: The combined 4-group classification model on an average showed a sensitivity of 64%, a specificity of 88% and an accuracy of 76% for prediction based on a ‘single spectrum’, whilst a ‘majority-vote’ prediction on an average showed a sensitivity of 73%, a specificity of 90% and an accuracy of 82%. The 2-group model, for the differential diagnosis of epithelial misplacement versus adenocarcinoma, showed an average sensitivity and specificity of 82.5% for prediction based on a ‘single spectrum’ whilst a ‘majority-vote’ classification showed an average sensitivity and specificity of 90%. A 92% area under the curve (AUC) value was obtained when evaluating the classifier using the Receiver Operating Characteristics (ROC) curves. Conclusions: IR spectroscopy shows promise in its ability to differentiate epithelial misplacement from adenocarcinoma in tissue sections, considered as one of the most challenging endeavours in population-wide diagnostic histopathology. Further studies with larger series, including cases with challenging diagnostic features are required to ascertain the capability of this modern digital pathology approach. In the long-term, IR spectroscopy based pathology which is relatively low-cost and rapid, could be a promising endeavour to consider for integration into the existing histopathology pathway, in particular for population based screening programmes where large number of samples are scrutinised.","PeriodicalId":53204,"journal":{"name":"Clinical Pathology","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46028752","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Disseminated Cryptococcal Infection in HIV-Infected Patients: A Retrospective Clinicopathological Review of 4 Autopsy Cases","authors":"M. C. Khaba, Mamokoma Becky Kgole, Lesedi M Nevondo, W. van Aswegen, T. Mabelane, Ndivhuho A Makhado","doi":"10.1177/2632010X221078234","DOIUrl":"https://doi.org/10.1177/2632010X221078234","url":null,"abstract":"Cryptococcosis is an opportunistic infection with high mortality if not diagnosed and treated in time. The objective of this study was to review the clinicopathological information of decendents with final autopsy diagnosis of disseminated cryptococcal infection. This study collected data from 4 decendents who presented to an academic hospital/laboratory between 1 January 2015 to 31 December 2018. Their clinical, radiological and pathological findings including treatment were reviewed. Two decendents presented with respiratory symptoms whilst the other 2 presented with meningeal symptoms. Three were confirmed HIV positive. One decendent was on ART, one had defaulted treatment and one was ART naïve. Two decendents were diagnosed with cryptococcal meningitis, one with bacterial pneumonia and one with pulmonary tuberculosis. Three decendents died in emergency unit and one in the ward whilst on antifungal therapy. The autopsy findings confirmed disseminated cryptococcal infection in all cases. A high index of suspicion should be maintained in the right clinical context. Multi-organ involvement should be suspected in all patients and be actively sought out.","PeriodicalId":53204,"journal":{"name":"Clinical Pathology","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42487041","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hepatoid Adenocarcinoma of the Lung: A Rare Form of Lung Cancer","authors":"Yasmine Laraqui Houssein, S. Derqaoui, Raissouni Khouloud, A. Jahid, F. Zouaidia, Z. Bernoussi, K. Znati","doi":"10.1177/2632010X221088961","DOIUrl":"https://doi.org/10.1177/2632010X221088961","url":null,"abstract":"Hepatoid adenocarcinoma is a rare type of extrahepatic adenocarcinoma with glandular and hepatocyte differenciation. The tumor can occur in many organs, generally in the stomach, the location of the lung being extremely rare. Despite poor prognosis and few effective treatment options, a timely and accurate histopathological diagnosis is key to optimal clinical management for long-term survival. Given the few reports published to characterized hepatoid adenocarcinoma, the emergence of any new case will contribute to improve understanding of the disease. Very few reports have been published to characterize hepatoid adenocarcinoma cytologically or even histologically. The aim of this work is to focus on the anatomoclinical characteristics of this rare entity. We present a retrospective study of 2 cases of pulmonary hepatoid adenocarcinoma confirmed by histological and immunohistochemical study.","PeriodicalId":53204,"journal":{"name":"Clinical Pathology","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42733035","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Extreme Thrombocytosis in Refractory ITP Post-Splenectomy With Associated Fatal Thromboembolism","authors":"R. Nedumannil, E. Leitinger, S. Juneja","doi":"10.1177/2632010X221083218","DOIUrl":"https://doi.org/10.1177/2632010X221083218","url":null,"abstract":"Thrombopoietin (TPO)-receptor agonists have heralded a paradigm shift in the treatment of refractory immune thrombocytopenia (ITP). Reactive thrombocytosis has been described as a secondary effect of such therapies. However, the phenomenon of extreme thrombocytosis with morphology mimicking a myeloproliferative neoplasm (MPN) followed by fatal thromboembolism is unusual in this setting. Caution is required in the diagnosis of refractory ITP as well as TPO-receptor agonist dosing in such cases.","PeriodicalId":53204,"journal":{"name":"Clinical Pathology","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44403806","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}