{"title":"FOXP3 expression in duodenal mucosa: Unique role in pathogenesis and differential diagnosis of celiac disease","authors":"F. Yilmaz , K. Atay","doi":"10.1016/j.anndiagpath.2024.152393","DOIUrl":"10.1016/j.anndiagpath.2024.152393","url":null,"abstract":"<div><div>Forkhead box protein P3 (FOXP3) positive regulatory T lymphocytes are indispensable in the inflammatory homeostasis of the gastrointestinal tract and represent a significant subset of regulatory cells in inflammatory, autoimmune, and neoplastic conditions. This study aimed to elucidate the potential of FOXP3 expression in diagnosing and pathogenesis of celiac disease (CD) by comparing duodenal biopsies of CD cases with non-CD ones, some of which had increased intraepithelial lymphocytes (IELs). Two hundred sixty-one duodenal tissues of patients who applied to adult gastroenterology were reevaluated for immunohistochemical analysis. After excluding patients on a gluten-free diet (<em>n</em> = 44), the CD (<em>n</em> = 97) and non-CD (<em>n</em> = 120) groups were divided based on clinical complaints that could be associated with CD (intestinal or extraintestinal), serologic and histologic findings. The specific threshold was determined by receiver operating characteristic (ROC) analysis, and its relationship with CD diagnosis and clinicopathological data was evaluated. ROC analysis offered a “>14” cut-off value for diagnosing CD, for which AUC (Area Under The Curve): 0.968, <em>p</em> < 0.0001, sensitivity: 92.8, specificity: 91.7, positive and negative predictive values were 90 % and 94 %, respectively. High FOXP3 expression was associated with higher IEL, diagnosis of CD, more severe histologic (higher Marsh score) and endoscopic (scalloping) findings, and higher anti-tissue transglutaminase and anti-endomysium IgA titers (<em>p</em> < 0.001). It also correlates with IEL in CD patients and is unaffected by the increase in IEL and the presence of gastric <em>Helicobacter Pylori</em> in the non-CD group. FOXP3 is a sensitive and specific marker for diagnosing CD despite inflammatory conditions resulting from non-CD causes.</div></div>","PeriodicalId":50768,"journal":{"name":"Annals of Diagnostic Pathology","volume":"74 ","pages":"Article 152393"},"PeriodicalIF":1.5,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142639031","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Grace J. Kwon , William R. Jeck , Shannon McCall , Zuowei Su , Avani A. Pendse
{"title":"T-cells are significantly reduced in the luminal gastrointestinal tract of patients with “complete” 22q11.2 deletion syndrome (DiGeorge syndrome): Utilization of chromogenic multiplex immunohistochemistry to define cellular populations","authors":"Grace J. Kwon , William R. Jeck , Shannon McCall , Zuowei Su , Avani A. Pendse","doi":"10.1016/j.anndiagpath.2024.152391","DOIUrl":"10.1016/j.anndiagpath.2024.152391","url":null,"abstract":"<div><div>Patients with 22q11.2 deletion syndrome or DiGeorge syndrome commonly report gastrointestinal symptoms in addition to more widely understood cardiac and immunodeficiency abnormalities. However, the morphologic features of gastrointestinal tract pathology in these patients are poorly understood. We previously reported that plasma cells are essentially absent from the luminal gastrointestinal tract of patients with “complete” DiGeorge syndrome. Herein, we add to the current understanding of the luminal gastrointestinal tract changes in patients with DiGeorge syndrome. Patients with cytogenetically confirmed DiGeorge syndrome were identified after approval from our institutional review board. Gastrointestinal tract biopsies from patients with DiGeorge syndrome that were severely immunosuppressed (complete DiGeorge syndrome, DGS-I), partially immunocompromised (partial DiGeorge syndrome, DGS), and from control patients were reviewed. Two panels of chromogenic multiplex immunohistochemistry (IHC) were performed to evaluate the immune cell infiltrate in the lamina propria of the duodenum and colon. “Panel #1” was composed of antibodies targeting CD3, CD20, and CD68. “Panel #2” was composed of antibodies targeting CD4, CD8, CD56, and TCRϒδ. Assessment of cell types identified by these antibody targets demonstrated a significant reduction of duodenal and colonic T-cells in patients with complete DiGeorge syndrome. In addition to establishing the morphologic phenotype of the luminal gastrointestinal tract of patients with DiGeorge syndrome, we also highlight our chosen technology of chromogenic multiplex IHC as a relatively accessible research and diagnostic tool with wide potential to be utilized across various disease processes.</div></div>","PeriodicalId":50768,"journal":{"name":"Annals of Diagnostic Pathology","volume":"74 ","pages":"Article 152391"},"PeriodicalIF":1.5,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142644959","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Zhikai Chi, Lan Peng, Dipti M. Karamchandani, Jing Xu
{"title":"PD-L1 (22C3) expression and prognostic implications in esophageal squamous cell carcinoma","authors":"Zhikai Chi, Lan Peng, Dipti M. Karamchandani, Jing Xu","doi":"10.1016/j.anndiagpath.2024.152394","DOIUrl":"10.1016/j.anndiagpath.2024.152394","url":null,"abstract":"<div><div>Programmed cell death-ligand 1 (PD-L1) clone 22C3 is the only Food and Drug Administration-approved companion diagnostic test for pembrolizumab for the treatment of esophageal squamous cell carcinoma (ESCC). However, prior studies conducted in Asia and Europe have used various PD-L1 antibody clones other than 22C3. We aimed to study the expression profile of PD-L1, specifically of clone 22C3, in ESCC and its significance with regards to histological features, clinical parameters, and overall survival in a case series from two large US hospital systems. PD-L1 (22C3) immunohistochemistry was performed on 82 specimens obtained from 75 patients. Electronic medical records were reviewed to obtain the clinical and follow-up data. Of these specimens, 39 % (32/82) were negative for PD-L1 (22C3) expression (combined positive score (CPS) of 0). The remaining 50 specimens were positive, with CPSs ranging from 1 to 100. Treated specimens showed decreased PD-L1 (22C3) expression compared to untreated specimens. In the multivariate Cox proportional hazards regression model, PD-L1 (22C3) expression was shown to be a favorable prognostic factor for overall survival (<em>p</em> = 0.03, hazard ratio 0.16) only when the CPSs were ≥ 25, independent of surgery, definitive chemotherapy and/or radiotherapy, immunotherapy, and initial clinical stages. We performed a comprehensive study to investigate the expression profile of PD-L1 clone 22C3 in the US patients with ESCC. Our analysis showed that PD-L1 (22C3) expression decreased in treated specimens, and a CPS of ≥25 was associated with a favorable prognosis.</div></div>","PeriodicalId":50768,"journal":{"name":"Annals of Diagnostic Pathology","volume":"74 ","pages":"Article 152394"},"PeriodicalIF":1.5,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142644956","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Wei Du , Xueting Jin , Jaryse Carol Harris , Alessandro Brunetti , Erika Johnson , Olivia Leung , Xingchen Li , Selemon Walle , Qing Yu , Xiao Zhou , Fang Bian , Kajanna McKenzie , Manita Kanathanavanich , Yusuf Ozcelik , Farah El-Sharkawy , Shunsuke Koga
{"title":"Large language models in pathology: A comparative study of ChatGPT and Bard with pathology trainees on multiple-choice questions","authors":"Wei Du , Xueting Jin , Jaryse Carol Harris , Alessandro Brunetti , Erika Johnson , Olivia Leung , Xingchen Li , Selemon Walle , Qing Yu , Xiao Zhou , Fang Bian , Kajanna McKenzie , Manita Kanathanavanich , Yusuf Ozcelik , Farah El-Sharkawy , Shunsuke Koga","doi":"10.1016/j.anndiagpath.2024.152392","DOIUrl":"10.1016/j.anndiagpath.2024.152392","url":null,"abstract":"<div><div>Large language models (LLMs), such as ChatGPT and Bard, have shown potential in various medical applications. This study aimed to evaluate the performance of LLMs, specifically ChatGPT and Bard, in pathology by comparing their performance with those of pathology trainees, and to assess the consistency of their responses. We selected 150 multiple-choice questions from 15 subspecialties, excluding those with images. Both ChatGPT and Bard were tested on these questions across three separate sessions between June 2023 and January 2024, and their responses were compared with those of 16 pathology trainees (8 junior and 8 senior) from two hospitals. Questions were categorized into easy, intermediate, and difficult based on trainee performance. Consistency and variability in LLM responses were analyzed across three evaluation sessions. ChatGPT significantly outperformed Bard and trainees, achieving an average total score of 82.2% compared to Bard's 49.5%, junior trainees' 45.1%, and senior trainees' 56.0%. ChatGPT's performance was notably stronger in difficult questions (63.4%–68.3%) compared to Bard (31.7%–34.1%) and trainees (4.9%–48.8%). For easy questions, ChatGPT (83.1%–91.5%) and trainees (73.7%–100.0%) showed similar high scores. Consistency analysis revealed that ChatGPT showed a high consistency rate of 80%–85% across three tests, whereas Bard exhibited greater variability with consistency rates of 54%–61%. While LLMs show significant promise in pathology education and practice, continued development and human oversight are crucial for reliable clinical application.</div></div>","PeriodicalId":50768,"journal":{"name":"Annals of Diagnostic Pathology","volume":"73 ","pages":"Article 152392"},"PeriodicalIF":1.5,"publicationDate":"2024-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142606411","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Noninvasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP): Prevalence, cyto-histo correlation, and molecular and ultrasonographic profile","authors":"Zhengfan Xu, Alyssa Vitale, Christian Keller, Wamidh Alkhoory, Ziying Zhang, Lisi Yuan","doi":"10.1016/j.anndiagpath.2024.152390","DOIUrl":"10.1016/j.anndiagpath.2024.152390","url":null,"abstract":"<div><div>Non-invasive follicular thyroid neoplasm with papillary like nuclear features (NIFTP) was introduced in 2017 WHO Classification of Endocrine Tumors. In this study, we aim to characterize the molecular and ultrasonographic profiles of NIFTP and evaluate the performance of fine needle aspiration (FNA) cytology. Consecutive thyroid resections at our institution between 2018 and 2022 were collected; 1282 thyroid resections were identified. NIFTP was diagnosed in 109 cases (prevalence: 8.5 %); 65 (60 %) were the targeted nodules with an average size of 2.5 cm. Among these 65 targeted, 27 had Afirma testing results, 44 had Thyroid Imaging Reporting and Data System (TIRADS) scores, and 53 had FNA results. Of the 27 cases with Afirma reports, 23 were labeled “suspicious”, including 5 with <em>RAS</em>-related mutations (risk of malignancy (ROM) 75 %) and 17 without a reportable genetic alternation (ROM 50 %). 60 % cases with TIRADS scores were classified as TIRADS 4, while 16 % were classified as TIRADS 5. The majority of the 53 FNA cases had a diagnosis of AUS/FLUS (53.7 %) or FN (31.5 %). One additional targeted nodule with a diagnosis of NIFTP had <em>BRAFV600E</em> mutation and was reclassified as papillary thyroid carcinoma. In summary, the majority of the targeted NIFTPs had “suspicious” Afirma testing results (85 %), TIRADS 4 scores (60 %) and either AUS/FLUS (53.7 %) or FN (31.5 %) FNA results. The sensitivity and specificity of cytology for diagnosing NIFTP were 90 % and 57 %, respectively, with a positive predictive value (PPV) of 16 % and negative predictive value of 98 %.</div></div>","PeriodicalId":50768,"journal":{"name":"Annals of Diagnostic Pathology","volume":"73 ","pages":"Article 152390"},"PeriodicalIF":1.5,"publicationDate":"2024-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142606412","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Christophe de Meester, Elena Costa, Claudia Schönborn, Lorena San Miguel
{"title":"Diagnostic immunohistochemistry use in Belgian laboratories","authors":"Christophe de Meester, Elena Costa, Claudia Schönborn, Lorena San Miguel","doi":"10.1016/j.anndiagpath.2024.152388","DOIUrl":"10.1016/j.anndiagpath.2024.152388","url":null,"abstract":"<div><h3>Objectives</h3><div>In Belgium, the use of IHC testing has grown in the last decade. However, there is a lack of information on the specific indications for which it is reimbursed. The aim of the study is to offer an overview on the use of diagnostic inmunohistochemistry (IHC) testing and its recent trends.</div></div><div><h3>Methods</h3><div>Our analysis is limited to reimbursed use, which in Belgium is restricted to a maximum of 4 different IHC stains per sampling session for diagnostic IHC. Consulted sources included data from the compulsory health insurance, and data extracted from a sample of pathology reports gathered from Belgian laboratories for the year 2019.</div></div><div><h3>Results</h3><div>Over the last 10 years, the use of IHC in Belgium grew from 729 030 stains in 2012 to 1,194,331 in 2019, an increase of 63.8 % while the increase in the number of histological or cytological examinations was 13.3 %. The main stains used in 2019 were <em>H. pylori</em>, Ki-67 and broad spectrum CK, which were used in multiple body sites, reflecting the difficulties to identify specific indications. The gastro-intestinal tract is the body site with the highest number of IHC stains (38.2 % of all stains performed), and the most frequently used stain in gastro intestinal biopsies were <em>H. pylori</em> (43.1 %), and CD3 (6.8 %).</div></div><div><h3>Conclusion</h3><div>This study offers an overview of the most frequent indications for which diagnostic IHC staining is used in Belgium, and reflects the evolving nature of this field, highlighting the importance to increase clarity and improve data collection.</div></div>","PeriodicalId":50768,"journal":{"name":"Annals of Diagnostic Pathology","volume":"74 ","pages":"Article 152388"},"PeriodicalIF":1.5,"publicationDate":"2024-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142632212","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Histomorphology based prediction of p16 immunopositivity and p16/HPV DNA co-positivity in oral squamous cell carcinoma","authors":"Farhat Naz , Nadeem Tanveer , Hitesh Verma , Sudheer Arava , Aanchal Kakkar , Shivam Pandey , Harsh Goel , Amar Ranjan , Anita Chopra , Pranay Tanwar","doi":"10.1016/j.anndiagpath.2024.152389","DOIUrl":"10.1016/j.anndiagpath.2024.152389","url":null,"abstract":"<div><div>The histomorphological features predictive of p16 and human papilloma virus (HPV DNA) positivity in oropharyngeal carcinoma have been a matter of much debate. However, only few studies have been done on oral squamous cell carcinoma (OSCC) to correlate the histomorphological features with p16 and HPV DNA positivity. Oral squamous cell carcinoma has distinct etiopathogenesis, treatment and prognosis as compared to oropharyngeal carcinomas.</div><div>A total of 800 oral squamous cell carcinoma biopsy cases were evaluated for features suggestive of HPV infection like basaloid appearance, absence of stromal reaction, nests and lobules of tumor cells with pushing borders, central necrosis, lympho-epithelial morphology, koilocytes, and non-keratinizing or hybrid morphology. Immunohistochemistry was performed for p16 expression (E6H4 clone, CINtec histology, Roche diagnostics). The cases which showed 2+/3+ (from moderate to high intensity) staining with >75 % cells were considered as p16 immunopositive. All the p16 immunopositive cases were subjected to real-time PCR (polymerase chain reaction) for HPV DNA detection to confirm HPV positivity. A total of 139 (17.37 %) OSCC cases were p16 immunopositive and out of these 104 (104/139, 74.8 %) cases showed HPV-DNA PCR positivity. None of the features were found to be predictive on multivariate logistic regression analysis. However, on bivariable analysis, nest/lobule with pushing border was the only histopathological feature which had a significant correlation with p16 immunopositivity (<em>P</em> value = 0.0001) and p16 and HPV DNA copositivity (P value = 0.0001). (Fisher's exact test -two tailed).</div><div>To conclude-morphology is not really predictive of HPV positivity in OSCC cases. Only one feature- nests and lobule with pushing border is suggestive on bivariable analysis.</div></div>","PeriodicalId":50768,"journal":{"name":"Annals of Diagnostic Pathology","volume":"73 ","pages":"Article 152389"},"PeriodicalIF":1.5,"publicationDate":"2024-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142554963","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Prognostic significance of CD3+ and CD8+ T-cells immunoscore in renal cell carcinoma: A comparison between two simple models for assessment","authors":"Amira Emad Elwy , Mahmoud Ismail Nassar , Shimaa Hassan Shaban , Tarek Mohamed Elsaba","doi":"10.1016/j.anndiagpath.2024.152387","DOIUrl":"10.1016/j.anndiagpath.2024.152387","url":null,"abstract":"<div><div>The immunoscore (ISc) has been extensively investigated as a prognostic indicator for numerous solid tumors. In renal cell carcinoma (RCC), its prognostic significance has been evaluated in a small number of studies. This study was designed to ascertain the prognostic value of ISc based on CD3+ and CD8+ T cells in patients with RCC. This study included 115 non-metastatic RCC patients who underwent nephrectomy. The ISc was obtained by estimating the densities of CD3+ and CD8+ cells at the invasive margin and center of the tumor using two methods: cell count per square millimeter (cell count/mm<sup>2</sup>) and percentage of cells per square millimeter (% of cells/mm<sup>2</sup>). The patients were categorized into low and high groups according to the ISc. The associations between the ISc and clinicopathological characters, including survival, were analyzed statistically. Adverse clinicopathologic factors were significantly associated with high ISc. Patients with high ISc had significantly worse overall survival (OS) and disease-free survival (DFS) rates over three years (<em>p</em> < 0.001). High ISc was considered a predictor of shortened DFS in univariate analysis (<em>p</em> < 0.001). However, in multivariate analysis, it was a dependent predictor. High ISc could help identify individuals more likely to develop recurrence and may impact treatment strategy for more effective personalized care. Moreover, establishing a modified objective, automated, digital quantification method of immune cells (% of cells/mm<sup>2</sup> instead of cell count/mm<sup>2</sup>) is expected to be simple to implement in routine, highly affordable, time efficient, clinically meaningful, and will improve assay performance.</div></div>","PeriodicalId":50768,"journal":{"name":"Annals of Diagnostic Pathology","volume":"73 ","pages":"Article 152387"},"PeriodicalIF":1.5,"publicationDate":"2024-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142548747","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Metastatic tumours to the parotid: A 20-year single institutional experience with an emphasis on 14 unusual presentations","authors":"Prilla P.M. Tsang, Garima Gupta, Suchana Mukhopadhyay","doi":"10.1016/j.anndiagpath.2024.152386","DOIUrl":"10.1016/j.anndiagpath.2024.152386","url":null,"abstract":"<div><div>The parotid gland is a rare site for distant metastasis. We aim to provide an overview of metastatic tumours to the parotid over the past 20 years, focusing on clinicopathological analysis of 14 rare diagnoses. To the best of our knowledge, we are the first group to present the most up-to-date and largest case series on unusual metastases to the parotid. A total of 93 metastatic cases were identified from 2004 to 2023, on the pathology information system at North West London Pathology, with squamous cell carcinoma (n = 45, 48.4 %) as the most common primary, followed by malignant melanoma (n = 29, 31.2 %) and Merkel cell carcinoma (n = 4, 4.3 %). We came across 14 rare tumours that had metastasised to the parotid, including metastatic adenocarcinoma from kidney (n = 3, 3.2 %), lung (n = 3, 3.2 %) and breast (n = 1, 1.1 %), olfactory neuroblastoma (n = 3, 3.2 %), soft tissue sarcoma (n = 2, 2.2 %), small cell carcinoma (n = 1, 1,1 %) and hidradenocarcinoma (n = 1, 1.1 %). Half of all secondary neoplastic lesions (50.5 %) were found in intra-parotid nodes, while the other half (49.5 %) were found in parotid parenchyma. Our study offers valuable insights into the various tumour types that can metastasise to the parotid across a wide age range. It underscores the necessity of maintaining a broad differential diagnosis. Keeping an open mind regarding the potential primary sources of the tumour is imperative for accurate diagnosis and effective treatment planning.</div></div>","PeriodicalId":50768,"journal":{"name":"Annals of Diagnostic Pathology","volume":"73 ","pages":"Article 152386"},"PeriodicalIF":1.5,"publicationDate":"2024-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142512378","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Mahreen Hussain , Faisal Rawas , Joseph Gosnell , Leonard J. Medeiros , Kirill A. Lyapichev
{"title":"Gelatinous transformation of bone marrow associated with ring sideroblasts: A diagnostic pitfall","authors":"Mahreen Hussain , Faisal Rawas , Joseph Gosnell , Leonard J. Medeiros , Kirill A. Lyapichev","doi":"10.1016/j.anndiagpath.2024.152385","DOIUrl":"10.1016/j.anndiagpath.2024.152385","url":null,"abstract":"<div><div>Gelatinous bone marrow transformation (GBMT) is a rare condition characterized by adipocyte atrophy, deposition of extracellular gelatinous substance in the bone marrow and associated hypoplastic hematopoiesis. The underlying pathogenic mechanisms of GBMT remain poorly understood. Here we describe 3 cases of GBMT associated with ring sideroblasts. An electronic search of institutional archives was conducted via the laboratory information system to identify patients with a body mass index (BMI) of <18.5 who underwent bone marrow evaluation. The slides and reports for these bone marrow specimens were reviewed. Bone marrow specimens of 10 patients were identified and reviewed. Three (30 %) were found to have GBMT and ring sideroblasts, ranging from 2 to 20 %. Blasts were not increased and there was no other morphologic evidence of dysplasia. Every patient had one or more peripheral blood cytopenias. In one patient, copper deficiency was proven providing an explanation for the ring sideroblasts. To the best of our knowledge, ring sideroblasts have not been well documented in GBMT and aims to contribute to a better understanding of disease recognition and pathogenesis and also to prevent potential misdiagnosis as a myelodysplastic syndrome.</div></div>","PeriodicalId":50768,"journal":{"name":"Annals of Diagnostic Pathology","volume":"73 ","pages":"Article 152385"},"PeriodicalIF":1.5,"publicationDate":"2024-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142479810","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}