Annals of Diagnostic Pathology最新文献

{"title":"Does H3K27me3 expression play a role in patients with Blastic plasmacytoid dendritic cell neoplasm? A clinicopathologic analysis of 14 patients","authors":"Kuai Yu ,&nbsp;Gang Meng ,&nbsp;Hong He ,&nbsp;Wenwen Li ,&nbsp;Lixin Wang ,&nbsp;Yuanxin Li ,&nbsp;Xingyu Wang ,&nbsp;Ying Huang ,&nbsp;Juan He ,&nbsp;Min Zhao ,&nbsp;Tao Xie ,&nbsp;Zeng Zhen ,&nbsp;Dan Li","doi":"10.1016/j.anndiagpath.2024.152413","DOIUrl":"10.1016/j.anndiagpath.2024.152413","url":null,"abstract":"<div><div>Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare and aggressive lymphohematopoietic malignancy associated with poor prognosis. We aimed to improve the understanding of BPDCN, explore its prognostic significance, and identify potential therapeutic targets. Data from 14 BPDCN patients were retrospectively collected and analyzed, focusing on their clinicopathological characteristics, diagnostic features, immunophenotype, treatment regimens, and prognostic factors. Additionally, immunohistochemistry was used to detect the expression of multiple oncogenes in BPDCN. The cohort comprised 14 patients (10 males, 4 females) with a median age of 63.5 years at the time of diagnosis. Of these specimens, H3K27me3, ASXL1, BAP1, RAC1, TCF4 and AURKA were highly expressed in BPDCN, with expression rates of 71.4 % (10/14), 92.9 % (13/14), 85.7 % (12/14), 100 % (13/13), 12/14 (85.7 %) and 46.2 % (6/13), respectively. The survival of patients in this cohort ranged from 1 to 84 months, with a median overall survival (OS) of 18.5 months. The survival rates for 1, 2, 3, 4 and 5 years were 71.43 %, 53.57 %, 44.64 %, 44.64 %, and 44.64 %, respectively. In the overall BPDCN cohort, patients with positive expression of H3K27me3 exhibited significantly better overall survival compared to those with negative expression H3K27me3 (<em>P</em> = 0.0056). Our analysis showed that the absence of H3K27me3 expression may indicate a poor prognosis in patients with BPDCN, and H3K27me3 may be a potential prognostic indicator for BPDCN.</div></div>","PeriodicalId":50768,"journal":{"name":"Annals of Diagnostic Pathology","volume":"74 ","pages":"Article 152413"},"PeriodicalIF":1.5,"publicationDate":"2024-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142720653","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":"Evaluation of the recently established Dutch nationwide Archipelago of Ovarian Cancer Research biobank","authors":"Hein S. Zelisse ,&nbsp;Mignon D.J.M. van Gent ,&nbsp;Constantijne H. Mom ,&nbsp;Sander de Ridder ,&nbsp;Malou L.H. Snijders ,&nbsp;Marlou Heeling ,&nbsp;Matthijs Stoter ,&nbsp;Annegien Broeks ,&nbsp;Hugo M. Horlings ,&nbsp;Christianne A.R. Lok ,&nbsp;Steven L. Bosch ,&nbsp;Jurgen M. Piek ,&nbsp;Joost Bart ,&nbsp;Anna K.L. Reyners ,&nbsp;G. Bea A. Wisman ,&nbsp;Refika Yigit ,&nbsp;Ingrid A. Boere ,&nbsp;Margriet Collée ,&nbsp;Floris H. Groenendijk ,&nbsp;Maurice P.H.M. Jansen ,&nbsp;Frederike Dijk","doi":"10.1016/j.anndiagpath.2024.152411","DOIUrl":"10.1016/j.anndiagpath.2024.152411","url":null,"abstract":"<div><div>Fundamental and translational research in ovarian cancer aims to enhance understanding of disease mechanisms and improve treatment and survival outcomes. To support this, we established the Dutch multicenter, interdisciplinary Archipelago of Ovarian Cancer Research (AOCR) infrastructure, which includes a nationwide biobank. In this study, we share our experiences in establishing the infrastructure, offer guidance for similar initiatives, and evaluate the AOCR patient cohort. Key challenges included obtaining Data Protection Impact Assessment (DPIA) clearance, drafting the consortium agreement, and securing ethical approval from all hospitals. Over three years, 1093 patients were enrolled across 17 hospitals, resulting in the collection of 1339 tissue samples and 2280 blood samples. Of the 523 patients with currently available clinical and pathological data, 74 % (<em>n</em> = 387) had primary ovarian cancer. Among these patients, 73.4 % was diagnosed with high-grade serous ovarian carcinoma, and 80.9 % presented with advanced-stage disease. Surgery was performed on 93 % of patients with primary ovarian cancer, and chemotherapy was administered to 90.4 % of these patients. In conclusion, the AOCR biobank has established a robust foundation for future fundamental and translational ovarian cancer research. This manuscript provides valuable insights and guidance for developing future research infrastructures and biobanks, and contains detailed information about the AOCR patient cohort to date.</div></div>","PeriodicalId":50768,"journal":{"name":"Annals of Diagnostic Pathology","volume":"74 ","pages":"Article 152411"},"PeriodicalIF":1.5,"publicationDate":"2024-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142704969","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Recurrence score-predicted value derived from estrogen receptor, tumor-infiltrating lymphocytes, progesterone receptor, and Ki-67 may substitute for the Oncotype DX recurrence score in estrogen receptor (ER)+/human epidermal growth factor receptor 2 (HER2)− breast cancer","authors":"Keiichi Sotome ,&nbsp;Hinako Maeda ,&nbsp;Takako Yanagisawa ,&nbsp;Yuko Harada ,&nbsp;Yuuki Mae ,&nbsp;Masashi Ogiso ,&nbsp;Hiroyuki Sako ,&nbsp;Nobushige Yabe ,&nbsp;Hisashi Yanaihara ,&nbsp;Noriki Kamiya ,&nbsp;Yoshiyuki Ishii ,&nbsp;Akiyoshi Hoshino ,&nbsp;Ichiro Maeda ,&nbsp;Akihiko Suto ,&nbsp;Masahiko Watanabe ,&nbsp;Tadashi Ikeda","doi":"10.1016/j.anndiagpath.2024.152410","DOIUrl":"10.1016/j.anndiagpath.2024.152410","url":null,"abstract":"<div><div>Oncotype DX is the only multigene assay supported by the <span>National Comprehensive Cancer Network</span> (USA) with Level 1 evidence for use on node-negative and postmenopausal node-positive patients with estrogen receptor (ER)+/human epidermal growth factor receptor 2 (<span><span>HER2</span></span>)-breast cancer to predict the prognosis and to estimate chemotherapy add-on effects. However, the test's high cost prevents its use in most cases. Therefore, we aimed to obtain an alternative recurrence score (RS) prediction formula using the optimal clinicopathological factors. We retrospectively reviewed data of 81 patients with ER+/HER2− primary breast cancer in our hospital where Oncotype DX RS was measured. Stepwise multivariate linear regression analysis was conducted with several selected clinicopathological factors of 60 consecutive cases in the training group. The obtained RS-predicted values were validated against Oncotype DX RS using 21 additional consecutive cases. The RS prediction formula derived from the combination of ER, tumor-infiltrating lymphocytes (TILs), progesterone receptor (PgR), and Ki-67-labeling index produced a favorable model with a correlation coefficient (r) of 0.731103 for the Oncotype DX RS (<em>p</em> = 0.0002) and an adjusted R² coefficient of 0.510013. The RS-predicted values and the actual Oncotype DX RS were classified into four 2 × 2 groups, by using an RS of 26 as a threshold for adding chemotherapy with a concordance rate of 95.2 % (20/21) and a kappa coefficient of 0.829. RS-predicted values of combined ER, TILs, PgR, and Ki-67 may be an appropriate substitute for Oncotype DX RS in certain situations.</div></div>","PeriodicalId":50768,"journal":{"name":"Annals of Diagnostic Pathology","volume":"74 ","pages":"Article 152410"},"PeriodicalIF":1.5,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142695969","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"From the archives of MD Anderson Cancer Center: EBV-positive fibrin-associated large B-cell lymphoma in an ovarian leiomyoma with cystic degeneration: A case report and discussion of differential diagnosis","authors":"Luana Santos Louro ,&nbsp;Roberto N. Miranda ,&nbsp;L. Jeffrey Medeiros ,&nbsp;Anais Malpica ,&nbsp;Mario L. Marques-Piubelli ,&nbsp;Preetha Ramalingam","doi":"10.1016/j.anndiagpath.2024.152397","DOIUrl":"10.1016/j.anndiagpath.2024.152397","url":null,"abstract":"<div><div>Fibrin-associated large B-cell lymphoma (FA-LBCL) is a rare type of lymphoma usually associated with Epstein-Barr virus (EBV) infection. We report a case incidentally detected in a right ovarian mass of a 53-year-old woman. The patient presented with bloating and weight gain over 8 months. Imaging studies showed a 20.7 cm, complex right adnexal mass. Total abdominal hysterectomy and bilateral salpingo-oophorectomy were performed. Macroscopic examination revealed a 25 x 18.5 x 9.5 cm predominantly cystic right ovarian mass with focal solid areas. Microscopically, most of the mass was a leiomyoma with hyaline necrosis and extensive cystic degeneration. In areas, the cyst showed focally necrotic, fibrinous material associated with small aggregates of round and atypical lymphoid cells with prominent karyorrhexis and mitotic activity These large cells were confined within the cystic spaces. Immunohistochemical analysis showed that the atypical cells were positive for CD20, CD30, CD79a and MUM1/IRF4, and were negative for CD3, CD10 and BCL6, supporting B-cell lineage. In situ hybridization for Epstein-Barr virus-encoded RNA (EBER ISH) was also positive in the atypical cells supporting the diagnosis of EBV-positive fibrin-associated large B-cell lymphoma. The patient subsequently received four cycles of chemotherapy using rituximab, cyclophosphamide, doxorubicin, vincristine and prednisone (R-CHOP). Computed tomography (CT) scan of the neck, chest, abdomen and pelvis 5 months after the last chemotherapy cycle showed no evidence of disease. After a follow-up of 17 months, the patient is alive with no evidence of disease. This report is being used to discuss the salient features of this rare entity and its differential diagnosis.</div></div>","PeriodicalId":50768,"journal":{"name":"Annals of Diagnostic Pathology","volume":"74 ","pages":"Article 152397"},"PeriodicalIF":1.5,"publicationDate":"2024-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142748414","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":"PIT-1/SF-1 co-expression in pituitary neuroendocrine tumors (PitNETs) with comprehensive review of the literature: How should we best characterize these neoplasms?","authors":"Christina Abi Faraj ,&nbsp;Ian E. McCutcheon ,&nbsp;Maria A. Gubbiotti","doi":"10.1016/j.anndiagpath.2024.152398","DOIUrl":"10.1016/j.anndiagpath.2024.152398","url":null,"abstract":"<div><div>The nomenclature and classification of neuroendocrine tumors of the anterior pituitary have undergone significant change over the last few years. Despite the updated classification system as devised by the World Health Organization, some tumors do not fit neatly into the currently defined categories. The most common tumor type not defined by the updated guidelines is a pituitary neuroendocrine tumor with co-expression of SF-1 and PIT-1. In this manuscript, we provide our institutional experience with such unusual cases and combine our findings with those in the available literature to provide the largest, most comprehensive dataset regarding clinical and pathologic information for these unique tumors. Based on our findings, we also propose a classification scheme for pituitary neuroendocrine tumors to integrate lineage, hormonal expression, and clinical function as we believe this constellation of information will best help the clinical teams treating these patients.</div></div>","PeriodicalId":50768,"journal":{"name":"Annals of Diagnostic Pathology","volume":"74 ","pages":"Article 152398"},"PeriodicalIF":1.5,"publicationDate":"2024-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142644958","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":"Poor response of HER2-positive mucinous carcinomas of breast to neoadjuvant HER2-targeted therapy: A study of four cases","authors":"Min Han ,&nbsp;Daniel Schmolze ,&nbsp;Javier A. Arias-Stella III ,&nbsp;Christina H. Wei ,&nbsp;Joanne Mortimer ,&nbsp;Fang Fan","doi":"10.1016/j.anndiagpath.2024.152396","DOIUrl":"10.1016/j.anndiagpath.2024.152396","url":null,"abstract":"<div><h3>Background</h3><div>Breast mucinous carcinoma (MC) is typically positive for estrogen receptor (ER) and progesterone receptor (PR) expressions and negative for human epidermal growth factor receptor (HER2) overexpression. HER2 positive MC is a rare entity; its response to neoadjuvant HER2-targeted therapy remains unclear.</div></div><div><h3>Methods</h3><div>Four cases of HER2 positive MC and seven cases of HER2 positive invasive ductal carcinoma with mucinous features (MCF) were identified. Clinicopathologic features were collected. Patients' germline data was gathered if available. Tumor's response to HER2-directed treatment were recorded and compared.</div></div><div><h3>Results</h3><div>Two HER2 positive MCs were treated with neoadjuvant HER2-directed treatment and showed no response in the subsequent surgical resection specimens including one positive lymph node showing no treatment effect. One patient had upfront surgery. The fourth patient presented with advanced stage and showed progression on HER2-directed treatment. Six HER2 positive MCFs received neoadjuvant HER2-directed therapy; two cases showed complete pathologic response and four had only minimal residual carcinomas in the breast. Two cases with positive lymph nodes had complete response in the lymph nodes. The seventh patient presented at an advanced stage and was stable on HER2-directed treatment.</div></div><div><h3>Conclusions</h3><div>Our findings suggest that HER2 positive MCs may be resistant to HER2-directed treatment. This is in contrast with the excellent treatment response observed in HER2 positive MCFs. It is important to report mucinous carcinoma percentage in biopsies on HER2 positive tumors as it may be related to treatment response. Further investigation of the underlying mechanisms may help optimize clinical management in this patient population.</div></div>","PeriodicalId":50768,"journal":{"name":"Annals of Diagnostic Pathology","volume":"74 ","pages":"Article 152396"},"PeriodicalIF":1.5,"publicationDate":"2024-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142683195","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":"TRPS1 expression in cytologic specimens of salivary duct carcinoma and other salivary gland tumors","authors":"Minhua Wang ,&nbsp;Guoping Cai ,&nbsp;Syed M. Gilani","doi":"10.1016/j.anndiagpath.2024.152406","DOIUrl":"10.1016/j.anndiagpath.2024.152406","url":null,"abstract":"<div><div>Recent studies suggest that trichorhinophalangeal syndrome type 1 (TRPS1) is sensitive immunomarker for breast carcinoma (BC). Salivary duct carcinoma (SDC) of salivary gland can share similar morphologic and immunophenotypic features with BC. This study aimed to assess the expression of TRPS1 in SDC and other salivary gland tumors (SGTs). Cytology cases and selected surgical specimens of SGTs were retrieved. Forty-three cases were selected and TRPS1 immunohistochemistry (IHC) was performed on cell blocks and some histologic specimens.</div><div>Of those 43 cases, all 13 SDC cases showed TRPS1 expression except for one case. The remaining 30 cases include pleomorphic adenoma (<em>n</em> = 7), Warthin tumor (<em>n</em> = 4), basal cell adenoma (<em>n</em> = 3), adenoid cystic carcinoma (<em>n</em> = 2), secretory carcinoma (<em>n</em> = 5), mucoepidermoid carcinoma (<em>n</em> = 4), and acinic cell carcinoma (n = 5). Three of thirty cases were negative for TRPS1 while the remainder showed variable expression of TRPS1 ranging from focal weak to diffuse strong staining. The three negative cases include a case of secretory carcinoma, mucoepidermoid carcinoma and Warthin tumor. Our study confirmed that TRPS1 expression is present in SDC and other SGTs, indicating an overlapping immunoprofile with breast cancer. Additionally, it may not help differentiate SDC or SGTs from each other. Further studies with larger cohorts are needed.</div></div>","PeriodicalId":50768,"journal":{"name":"Annals of Diagnostic Pathology","volume":"74 ","pages":"Article 152406"},"PeriodicalIF":1.5,"publicationDate":"2024-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142639240","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":"Superficial ALK-rearranged myxoid spindle cell neoplasms: Clinicopathologic and molecular analysis of two cases and a review of the literature","authors":"Wenwen Luo ,&nbsp;Jinyue Zheng ,&nbsp;Mengying Hei ,&nbsp;Ye Jiang,&nbsp;Bojin Su","doi":"10.1016/j.anndiagpath.2024.152395","DOIUrl":"10.1016/j.anndiagpath.2024.152395","url":null,"abstract":"<div><div>Superficial anaplastic lymphoma kinase (<em>ALK</em>)-rearranged myxoid spindle cell neoplasms are a recently identified subtype of cutaneous soft tissue tumors, distinct for their co-expression of CD34 and S100 and characterized by <em>ALK</em> gene rearrangements. Although 72 cases have been reported primarily as isolated case reports, this tumor subtype has yet to be included in the WHO classification of soft tissue tumors, underscoring the need for further study. In this study, we diagnosed two additional cases, both arising in the dermis and subcutaneous tissue. These tumors exhibited characteristic pathological features, including linear or concentric whorl patterns, prominent myxoid and collagenized stroma, mild cellular atypia, and rare mitotic activity. The presence of infiltrative margins and the potential for recurrence after surgery suggest at least locally aggressive clinical behavior. Immunohistochemically, the tumors diffusely expressed S100 and CD34, with strong ALK-D5F3 positivity, confirmed by <em>ALK</em> gene rearrangement. These findings further expand the clinical and pathological spectrum of <em>ALK</em>-rearranged neoplasms and highlight the need for continued research on their biological behavior and classification.</div></div>","PeriodicalId":50768,"journal":{"name":"Annals of Diagnostic Pathology","volume":"74 ","pages":"Article 152395"},"PeriodicalIF":1.5,"publicationDate":"2024-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142649696","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":"FOXP3 expression in duodenal mucosa: Unique role in pathogenesis and differential diagnosis of celiac disease","authors":"F. Yilmaz ,&nbsp;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 “&gt;14” cut-off value for diagnosing CD, for which AUC (Area Under The Curve): 0.968, <em>p</em> &lt; 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> &lt; 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}

{"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 ,&nbsp;William R. Jeck ,&nbsp;Shannon McCall ,&nbsp;Zuowei Su ,&nbsp;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}