Pathobiology最新文献_第6页

Next-Generation Sequencing of Breast Cancer in the Neoadjuvant Setting. 乳腺癌新辅助治疗中的新一代测序。

IF 5 4区医学

Pathobiology Pub Date : 2024-01-01 Epub Date: 2023-09-01 DOI: 10.1159/000533810

Alexandra Mesquita, Anabela Ferro, José Carlos Machado, Fernando Schmitt

{"title":"Next-Generation Sequencing of Breast Cancer in the Neoadjuvant Setting.","authors":"Alexandra Mesquita, Anabela Ferro, José Carlos Machado, Fernando Schmitt","doi":"10.1159/000533810","DOIUrl":"10.1159/000533810","url":null,"abstract":"Introduction: Many patients with locally advanced breast cancer are proposed to neoadjuvant chemotherapy (NAT) before surgery. Only some of them achieve a pathological complete response (pCR). The determination of gene somatic alterations using next-generation sequencing (NGS) in the non-pCR tumors is important, in order to identify potential opportunities of treatment for the patients, if targeted therapies are available.Methods: Breast cancer tissue samples of 31 patients, collected before NAT, were analyzed by NGS using the Oncomine™ Comprehensive Assay Plus (OCA-Plus) panel.Results: Twelve patients achieved pCR after NAT. ERBB2 gene alterations were the most frequent in this cohort of pCR patients, followed by BRCA 1 and 2, MYC, TP53, PIK3CA, and MET alterations. Tumors that did not achieve a pCR were mainly triple negative. In this subgroup some BRCA 1 and 2 and PIK3CA gene alterations were identified, as well as TP53 mutations. The NGS panel employed in this study also allowed for the determination of tumor mutation burden (TMB).Conclusion: This study showcases the significance of employing comprehensive genomic testing in breast cancer cases, primarily due to the scarcity of specific target assays. The detection of somatic mutations, coupled with the availability of targeted therapies, holds promise as a potential therapeutic avenue to enhance tumor response rates during NAT, or as a complementary treatment following surgery. Moreover, evaluating the TMB in non-pCR samples could serve as a valuable criterion for selecting patients suitable for immunotherapy. Further exploration through clinical trials is imperative to investigate these prospects.","PeriodicalId":19805,"journal":{"name":"Pathobiology","volume":" ","pages":"114-120"},"PeriodicalIF":5.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10145492","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}

引用次数: 0

Relative Telomere Length in Cervical Exfoliated Cells among Women with High-Risk Human Papillomavirus. 高危型人乳头瘤病毒患者宫颈脱落细胞中端粒的相对长度。

IF 5 4区医学

Pathobiology Pub Date : 2024-01-01 Epub Date: 2023-11-01 DOI: 10.1159/000534917

Rana Al-Awadhi, Materah Salem Alwehaidah, Moody AlRoomy, Kusum Kapila

{"title":"Relative Telomere Length in Cervical Exfoliated Cells among Women with High-Risk Human Papillomavirus.","authors":"Rana Al-Awadhi, Materah Salem Alwehaidah, Moody AlRoomy, Kusum Kapila","doi":"10.1159/000534917","DOIUrl":"10.1159/000534917","url":null,"abstract":"Introduction: This study investigates and compares the relative telomere length (RTL) outcome of high-risk (hr) human papillomavirus (HPV)-infected normal, low-grade squamous intraepithelial lesion (LSIL), and high-grade squamous intraepithelial lesion (HSIL) cervical samples to HPV-free normal cervical samples.Methods: This study used archived cervical samples and obtained cytology and histology data. HPV genotyping was conducted using Sanger sequencing, and RTL was performed using real-time quantitative polymerase chain reaction.Results: This study investigated 287 cervical samples, including 100 normal and hr-HPV-negative samples from the control group, 44 normal and hr-HPV-infected samples, and 143 SIL and hr-HPV-infected samples. The RTL in hr-HPV-infected samples, including the SIL and normal sample groups, was significantly longer than that in the control group. RTL in HSIL (5.13 ± 3.22) and LSIL (2.86 ± 2.81) was significantly different (p < 0.001). The RTL of cervical intraepithelial neoplasia (CIN1) lesion (3.53 ± 2.53) differed significantly (p < 0.001) when compared to CIN2 and CIN3 lesions combined (12.04 ± 10.51). The risk of developing cervical cancer was associated with RTL and decreased with RTL.Conclusion: This study revealed the strong potential of the RTL test in identifying women at risk of developing cervical cancer.","PeriodicalId":19805,"journal":{"name":"Pathobiology","volume":" ","pages":"180-186"},"PeriodicalIF":5.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71425832","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}

引用次数: 0

Progression in Myeloid Neoplasms: Beyond the Myeloblast. 髓样肿瘤的进展：超越髓母细胞

IF 5 4区医学

Pathobiology Pub Date : 2024-01-01 Epub Date: 2023-05-11 DOI: 10.1159/000530940

Carlos Faria, Alexandar Tzankov

{"title":"Progression in Myeloid Neoplasms: Beyond the Myeloblast.","authors":"Carlos Faria, Alexandar Tzankov","doi":"10.1159/000530940","DOIUrl":"10.1159/000530940","url":null,"abstract":"Disease progression in myelodysplastic syndromes (MDS), myelodysplastic-myeloproliferative neoplasms (MDS/MPN), and myeloproliferative neoplasms (MPN), altogether referred to as myeloid neoplasms (MN), is a major source of mortality. Apart from transformation to acute myeloid leukemia, the clinical progression of MN is mostly due to the overgrowth of pre-existing hematopoiesis by the MN without an additional transforming event. Still, MN may evolve along other recurrent yet less well-known scenarios: (1) acquisition of MPN features in MDS or (2) MDS features in MPN, (3) progressive myelofibrosis (MF), (4) acquisition of chronic myelomonocytic leukemia (CMML)-like characteristics in MPN or MDS, (5) development of myeloid sarcoma (MS), (6) lymphoblastic (LB) transformation, (7) histiocytic/dendritic outgrowths. These MN-transformation types exhibit a propensity for extramedullary sites (e.g., skin, lymph nodes, liver), highlighting the importance of lesional biopsies in diagnosis. Gain of distinct mutations/mutational patterns seems to be causative or at least accompanying several of the above-mentioned scenarios. MDS developing MPN features often acquire MPN driver mutations (usually JAK2), and MF. Conversely, MPN gaining MDS features develop, e.g., ASXL1, IDH1/2, SF3B1, and/or SRSF2 mutations. Mutations of RAS-genes are often detected in CMML-like MPN progression. MS ex MN is characterized by complex karyotypes, FLT3 and/or NPM1 mutations, and often monoblastic phenotype. MN with LB transformation is associated with secondary genetic events linked to lineage reprogramming leading to the deregulation of ETV6, IKZF1, PAX5, PU.1, and RUNX1. Finally, the acquisition of MAPK-pathway gene mutations may shape MN toward histiocytic differentiation. Awareness of all these less well-known MN-progression types is important to guide optimal individual patient management.","PeriodicalId":19805,"journal":{"name":"Pathobiology","volume":" ","pages":"55-75"},"PeriodicalIF":5.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10857805/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9524167","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}

引用次数: 0

Pediatric Hematopathology in the Era of Advanced Molecular Diagnostics: What We Know and How We Can Apply the Updated Classifications. 先进分子诊断时代的小儿血液病理学：我们知道什么以及如何应用最新分类。

IF 5 4区医学

Pathobiology Pub Date : 2024-01-01 Epub Date: 2023-06-13 DOI: 10.1159/000531480

Yen-Chun Liu, Julia T Geyer

{"title":"Pediatric Hematopathology in the Era of Advanced Molecular Diagnostics: What We Know and How We Can Apply the Updated Classifications.","authors":"Yen-Chun Liu, Julia T Geyer","doi":"10.1159/000531480","DOIUrl":"10.1159/000531480","url":null,"abstract":"Pediatric hematologic malignancies often show genetic features distinct from their adult counterparts, which reflect the differences in their pathogenesis. Advances in the molecular diagnostics including the widespread use of next-generation sequencing technology have revolutionized the diagnostic workup for hematologic disorders and led to the identification of new disease subgroups as well as prognostic information that impacts the clinical treatment. The increasing recognition of the importance of germline predisposition in various hematologic malignancies also shapes the disease models and management. Although germline predisposition variants can occur in patients with myelodysplastic syndrome/neoplasm (MDS) of all ages, the frequency is highest in the pediatric patient population. Therefore, evaluation for germline predisposition in the pediatric group can have significant clinical impact. This review discusses the recent advances in juvenile myelomonocytic leukemia, pediatric acute myeloid leukemia, B-lymphoblastic leukemia/lymphoma, and pediatric MDS. This review also includes a brief discussion of the updated classifications from the International Consensus Classification (ICC) and the 5th edition World Health Organization (WHO) classification regarding these disease entities.","PeriodicalId":19805,"journal":{"name":"Pathobiology","volume":" ","pages":"30-44"},"PeriodicalIF":5.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10857803/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9627352","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}

引用次数: 0

Artificial Intelligence in Bone Marrow Histological Diagnostics: Potential Applications and Challenges. 人工智能在骨髓组织学诊断中的应用：潜在应用与挑战。

IF 3.5 4区医学

Pathobiology Pub Date : 2024-01-01 Epub Date: 2023-02-15 DOI: 10.1159/000529701

Leander van Eekelen, Geert Litjens, Konnie M Hebeda

引用次数: 0

Myeloid Proliferations Associated with Down Syndrome: Clinicopathologic Characteristics of Forty Cases from Five Large Academic Institutions. 与唐氏综合征相关的骨髓增生：来自五所大型学术机构的四十例病例的临床病理特征。

IF 5 4区医学

Pathobiology Pub Date : 2024-01-01 Epub Date: 2023-03-30 DOI: 10.1159/000530431

Tayler A van den Akker, Yen-Chun Liu, Huifei Liu, Jennifer Chapman, Jennifer M Levine, Olga K Weinberg, Julia T Geyer

{"title":"Myeloid Proliferations Associated with Down Syndrome: Clinicopathologic Characteristics of Forty Cases from Five Large Academic Institutions.","authors":"Tayler A van den Akker, Yen-Chun Liu, Huifei Liu, Jennifer Chapman, Jennifer M Levine, Olga K Weinberg, Julia T Geyer","doi":"10.1159/000530431","DOIUrl":"10.1159/000530431","url":null,"abstract":"Introduction: The incidence of myelodysplastic syndrome and acute myeloid leukemia is significantly increased in children with Down syndrome (DS). Within the revised 2016 WHO edition, these entities are jointly classified as myeloid leukemia associated with DS (ML-DS). Additionally, infants with DS may develop transient abnormal myelopoiesis (TAM) which is histomorphologically similar to ML-DS. While TAM is self-limiting, it is associated with an increased risk of subsequently developing ML-DS. Differentiating TAM and ML-DS is challenging but clinically critical.Methods: We performed a retrospective review of ML-DS and TAM cases collected from five large academic institutions in the USA. We assessed clinical, pathological, immunophenotypical, and molecular features to identify differentiating criteria.Results: Forty cases were identified: 28 ML-DS and 12 TAM. Several features were diagnostically distinct, including younger age in TAM (p < 0.05), as well as presentation with clinically significant anemia and thrombocytopenia in ML-DS (p < 0.001). Dyserythropoiesis was unique to ML-DS, as well as structural cytogenetic abnormalities aside from the constitutional trisomy 21. Immunophenotypic characteristics of TAM and ML-DS were indistinguishable, including the aberrant expression of CD7 and CD56 by the myeloid blasts.Discussion: The findings of the study confirm marked biological similarities between TAM and ML-DS. At the same time, several significant clinical, morphological, and genetic differences were observed between TAM and ML-DS. The clinical approach and the differential diagnosis between these entities are discussed in detail.","PeriodicalId":19805,"journal":{"name":"Pathobiology","volume":" ","pages":"89-98"},"PeriodicalIF":5.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10857798/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9227429","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}

引用次数: 0

IQ Motif Containing GTPase-Activating Protein 3 Is Associated with Cancer Stemness and Survival in Pancreatic Ductal Adenocarcinoma. 含 IQ motif 的 GTPase 活化蛋白 3 与胰腺导管腺癌的癌症干性和存活率有关。

IF 3.5 4区医学

Pathobiology Pub Date : 2024-01-01 Epub Date: 2023-12-16 DOI: 10.1159/000535542

Aya Kido, Akira Ishikawa, Takafumi Fukui, Narutaka Katsuya, Kazuya Kuraoka, Kazuhiro Sentani, Sho Tazuma, Takeshi Sudo, Masahiro Serikawa, Shiro Oka, Naohide Oue, Wataru Yasui

{"title":"IQ Motif Containing GTPase-Activating Protein 3 Is Associated with Cancer Stemness and Survival in Pancreatic Ductal Adenocarcinoma.","authors":"Aya Kido, Akira Ishikawa, Takafumi Fukui, Narutaka Katsuya, Kazuya Kuraoka, Kazuhiro Sentani, Sho Tazuma, Takeshi Sudo, Masahiro Serikawa, Shiro Oka, Naohide Oue, Wataru Yasui","doi":"10.1159/000535542","DOIUrl":"10.1159/000535542","url":null,"abstract":"Introduction: Pancreatic ductal adenocarcinoma (PDAC) is one of the most lethal types of malignancy, with poor prognosis and rising incidence. IQ motif containing GTPase-activating protein 3 (IQGAP3) is a member of the IQGAPs family of scaffolding proteins that govern multiple cellular activities like cytoskeletal remodeling and cellular signal transduction. This study aimed to analyze the expression and biological function of IQGAP3 in PDAC.Methods: We analyzed IQGAP3 expression in 81 PDAC samples by immunohistochemistry. RNA interference was used to inhibit IQGAP3 expression in PDAC cell lines.Results: Immunohistochemical analysis of IQGAP3 showed that 54.3% of PDACs were positive for cytoplasmic expression of IQGAP3, with no expression found in non-neoplastic tissue. Furthermore, IQGAP3 expression was an independent poor prognostic factor in our immunostaining-based studies and analyses of public databases. Our cohort and the Cancer Genome Atlas database indicated that IQGAP3 is co-localized with kinesin family member C1 (KIFC1), which we previously reported as a cancer stem cell-associated protein. IQGAP3 small interfering RNA treatment decreased PDAC cell proliferation and spheroid colony formation via ERK and AKT pathways.Discussion/conclusion: These results suggest that IQGAP3, a transmembrane protein, is involved in survival and stemness and may be a promising new therapeutic target for PDAC.","PeriodicalId":19805,"journal":{"name":"Pathobiology","volume":" ","pages":"268-278"},"PeriodicalIF":3.5,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11309048/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138801012","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}

引用次数: 0

Reconceiving Perineural Invasion in Cutaneous Squamous Cell Carcinoma: From Biological to Histopathological Assessment. 重新认识皮肤鳞状细胞癌的神经周围侵犯：从生物学评估到组织病理学评估。

IF 3.5 4区医学

Pathobiology Pub Date : 2024-01-01 Epub Date: 2024-07-24 DOI: 10.1159/000539484

Filippo Nozzoli, Romina Nassini, Francesco De Logu, Martina Catalano, Giandomenico Roviello, Daniela Massi

{"title":"Reconceiving Perineural Invasion in Cutaneous Squamous Cell Carcinoma: From Biological to Histopathological Assessment.","authors":"Filippo Nozzoli, Romina Nassini, Francesco De Logu, Martina Catalano, Giandomenico Roviello, Daniela Massi","doi":"10.1159/000539484","DOIUrl":"10.1159/000539484","url":null,"abstract":"Background: Perineural invasion (PNI) is a complex molecular process histologically represented by the presence of tumor cells within the peripheral nerve sheath and defined when infiltration into the 3 nerve sheath layers can be clearly identified. Several molecular pathways have been implicated in cSCC. PNI is a well-recognized risk factor in cutaneous squamous cell carcinoma (cSCC) and its accurate assessment represents a challenging field in pathology daily practice.Summary: As a highly intricate and dynamic process, PNI involves a contingent on bidirectional signaling interactions between the tumor and various nerve components, such as Schwann cells and neurons. The current staging systems recommend the identification of PNI as a dichotomous variable (presence vs. absence) to identify a subgroup of high-risk patients. However, recent further insights revealed that the evaluation of morphological PNI-related features in cSCC may enhance the prognostic stratification of patients and may optimize the current staging guidelines for recurrence risk assessment and improvement of patient selection for postoperative adjuvant treatments. Furthermore, recent emerging biomarkers could redefine early PNI detection.Key messages: This review provides updated insights into cSCC with PNI, focusing on molecular and cellular pathogenic processes, and aims to increase knowledge on prognostic relevant PNI-related histological features.","PeriodicalId":19805,"journal":{"name":"Pathobiology","volume":" ","pages":"442-454"},"PeriodicalIF":3.5,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11614312/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141760282","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}

引用次数: 0

Clinically Applicable Pan-Origin Cancer Detection for Lymph Nodes via Artificial Intelligence-Based Pathology. 通过基于人工智能的病理学对淋巴结进行临床适用的泛源癌症检测。

IF 3.5 4区医学

Pathobiology Pub Date : 2024-01-01 Epub Date: 2024-05-08 DOI: 10.1159/000539010

Yi Pan, Hongtian Dai, Shuhao Wang, Lang Wang, Qiting Li, Wenmiao Wang, Jiangtao Li, Dan Qi, Zhaoyang Yang, Jia Jia, Yaxi Wang, Qing Fang, Lin Li, Weixun Zhou, Zhigang Song, Shuangmei Zou

{"title":"Clinically Applicable Pan-Origin Cancer Detection for Lymph Nodes via Artificial Intelligence-Based Pathology.","authors":"Yi Pan, Hongtian Dai, Shuhao Wang, Lang Wang, Qiting Li, Wenmiao Wang, Jiangtao Li, Dan Qi, Zhaoyang Yang, Jia Jia, Yaxi Wang, Qing Fang, Lin Li, Weixun Zhou, Zhigang Song, Shuangmei Zou","doi":"10.1159/000539010","DOIUrl":"10.1159/000539010","url":null,"abstract":"Introduction: Lymph node metastasis is one of the most common ways of tumour metastasis. The presence or absence of lymph node involvement influences the cancer's stage, therapy, and prognosis. The integration of artificial intelligence systems in the histopathological diagnosis of lymph nodes after surgery is urgent.Methods: Here, we propose a pan-origin lymph node cancer metastasis detection system. The system is trained by over 700 whole-slide images (WSIs) and is composed of two deep learning models to locate the lymph nodes and detect cancers.Results: It achieved an area under the receiver operating characteristic curve (AUC) of 0.958, with a 95.2% sensitivity and 72.2% specificity, on 1,402 WSIs from 49 organs at the National Cancer Center, China. Moreover, we demonstrated that the system could perform robustly with 1,051 WSIs from 52 organs from another medical centre, with an AUC of 0.925.Conclusion: Our research represents a step forward in a pan-origin lymph node metastasis detection system, providing accurate pathological guidance by reducing the probability of missed diagnosis in routine clinical practice.","PeriodicalId":19805,"journal":{"name":"Pathobiology","volume":" ","pages":"345-358"},"PeriodicalIF":3.5,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140892189","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}

引用次数: 0

Current challenges in the characterization of myeloid neoplasms 髓系肿瘤特征描述目前面临的挑战

IF 5 4区医学

Pathobiology Pub Date : 2023-12-22 DOI: 10.1159/000535852

Julia T. Geyer

引用次数: 0