Medical Molecular Morphology最新文献_第5页

NF1 mutation and TUBB3 amplification in gastric histiocytic sarcoma: a case report and literature review. 胃组织细胞肉瘤中的NF1突变和TUBB3扩增：病例报告和文献综述。

IF 1.2 4区医学

Medical Molecular Morphology Pub Date : 2024-09-01 Epub Date: 2024-06-24 DOI: 10.1007/s00795-024-00393-0

Yi Yang, Wei Fan, Xiaoping Liu, Qiongrong Chen

{"title":"NF1 mutation and TUBB3 amplification in gastric histiocytic sarcoma: a case report and literature review.","authors":"Yi Yang, Wei Fan, Xiaoping Liu, Qiongrong Chen","doi":"10.1007/s00795-024-00393-0","DOIUrl":"10.1007/s00795-024-00393-0","url":null,"abstract":"Histiocytic sarcoma is a rare neoplasm of mature histiocytes with an aggressive clinical course and poor response to treatment. Primary gastric histiocytic sarcoma is rarer and just reported sporadically.Histiocytic sarcoma is a rare neoplasm of mature histiocytes with an aggressive clinical course and poor response to treatment. Primary gastric histiocytic sarcoma is rarer and just reported sporadically. A case of a 71-year-old female admitted with a one-year history of upper abdominal pain exacerbated after meals. After CT scans revealed a bulged mass at the lesser curvature of the gastric body, the patient underwent endoscopic submucosal dissection. Microscopically, non-cohesive neoplastic cells diffusely infiltrated lamina propria and submucosa, and diffusely expressed LCA, CD4, CD163, CD68 (KP1), Cyclin D1, Lysozyme, and Vimentin. PD-L1 (22CS) expression evaluated as CPS 60. The final pathological diagnosis was gastric histiocytic sarcoma. Subsequently, next-generation sequencing identified a nonsense mutation in exon 21 of NF1 gene [c.2446C > T (p.R816*)] and the TUBB3 gene amplification (copy number: 4.55). The patient refused further treatment and died of the tumor half a year later. This case broadens the spectrum of differential diagnosis of gastric cancer and emphasizes the value of immunohistochemical and molecular tests in the accurate diagnosis of histiocytic sarcoma. Furthermore, we performed literature review of 11 cases of gastric histiocytic sarcoma so as to strengthen the understanding of the clinicopathologic features, treatment, and prognosis.","PeriodicalId":18338,"journal":{"name":"Medical Molecular Morphology","volume":" ","pages":"244-251"},"PeriodicalIF":1.2,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141446487","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

Liver fibrosis analysis using digital pathology. 利用数字病理学进行肝纤维化分析。

IF 1.2 4区医学

Medical Molecular Morphology Pub Date : 2024-09-01 Epub Date: 2024-07-09 DOI: 10.1007/s00795-024-00395-y

Hisamitsu Miyaaki, Satoshi Miuma, Masanori Fukusima, Ryu Sasaki, Masafumi Haraguchi, Yasuhiko Nakao, Yuko Akazawa, Kazuhiko Nakao

引用次数: 0

Primary hepatobiliary mucoepidermoid carcinoma: a case report and review of literature. 原发性肝胆粘液表皮样癌：病例报告和文献综述。

IF 1.2 4区医学

Medical Molecular Morphology Pub Date : 2024-09-01 Epub Date: 2024-06-21 DOI: 10.1007/s00795-024-00390-3

Zihan Li, Hiep Nguyen Canh, Khuyen Nguyen Thi, Kenta Takahashi, Quynh Nguyen Thi, Dong Le Thanh, Rui Yang, Yasunori Sato, Kenichi Harada

{"title":"Primary hepatobiliary mucoepidermoid carcinoma: a case report and review of literature.","authors":"Zihan Li, Hiep Nguyen Canh, Khuyen Nguyen Thi, Kenta Takahashi, Quynh Nguyen Thi, Dong Le Thanh, Rui Yang, Yasunori Sato, Kenichi Harada","doi":"10.1007/s00795-024-00390-3","DOIUrl":"10.1007/s00795-024-00390-3","url":null,"abstract":"Hepatobiliary mucoepidermoid carcinoma is a rare malignant tumor comprising mucous, intermediate, and epidermoid cells. Herein, we presented a case of primary liver mucoepidermoid carcinoma preoperatively misdiagnosed as conventional intrahepatic cholangiocarcinoma. A 67-year-old male was admitted to our hospital. Preoperative laboratory tests showed increased aspartate transaminase, alanine transaminase, and carbohydrate antigen 19-9. Abdominal Computer Tomography revealed a 4.8 × 4.9 cm liver mass in segment VI. A preliminary diagnosis of intrahepatic cholangiocarcinoma was made, with undergoing partial hepatectomy. However, on histopathology, the tumor comprised a mixture of epidermoid, mucous, and intermediate cells with diffuse infiltrating at the tumor margin. On special stains, mucous and intermedia cells were positive for mucicarmine and Alcian blue, whereas epidermoid cells were positive for Keratin 5/6 and p63. Intermediate cells are also positive for p63. All tumor cells were positive for Keratin 7. The Ki-67 index was 35%. The final diagnosis was primary hepatic mucoepidermoid carcinoma. Although rare, hepatic mucoepidermoid carcinoma should be considered in the intrahepatic cholangiocarcinoma differential diagnosis. We reviewed previous studies and found that hepatobiliary mucoepidermoid carcinoma is more likely to originate from the biliary tract adjacent to the tumor.","PeriodicalId":18338,"journal":{"name":"Medical Molecular Morphology","volume":" ","pages":"233-243"},"PeriodicalIF":1.2,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141432185","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

P4HA2 involved in SLUG-associated EMT predicts poor prognosis of patients with KRAS-positive colorectal cancer. 参与 SLUG 相关 EMT 的 P4HA2 预测了 KRAS 阳性结直肠癌患者的不良预后。

IF 1.2 4区医学

Medical Molecular Morphology Pub Date : 2024-09-01 Epub Date: 2024-03-24 DOI: 10.1007/s00795-024-00385-0

Heba El-Deek Mohammed El-Deek, Maha Salah El-Naggar, Aiat Morsy Mohamed Morsy, Mayada Fawzy Sedik, Heba Ahmed Osman, Asmaa M Ahmed

{"title":"P4HA2 involved in SLUG-associated EMT predicts poor prognosis of patients with KRAS-positive colorectal cancer.","authors":"Heba El-Deek Mohammed El-Deek, Maha Salah El-Naggar, Aiat Morsy Mohamed Morsy, Mayada Fawzy Sedik, Heba Ahmed Osman, Asmaa M Ahmed","doi":"10.1007/s00795-024-00385-0","DOIUrl":"10.1007/s00795-024-00385-0","url":null,"abstract":"This study aimed to examine the immunohistochemical expression of epithelial-mesenchymal transition biomarkers: P4HA2 and SLUG in colorectal carcinoma (CRC) specimens, then to assess their relation to clinicopathological features including KRAS mutations and patients' survival, and finally to study the correlation between them in CRC. The result of this study showed that SLUG and P4HA2 were significantly higher in association with adverse prognostic factors: presence of lympho-vascular invasion, perineural invasion, higher tumor budding, tumor stage, presence of lymph node metastasis, and presence of distant metastasis. CRC specimens with KRAS mutation were associated with significant higher SLUG and P4HA2 expression. High expression of both SLUG and P4HA2 was significantly unfavorable prognostic indicator as regards overall survival (OS) and disease-free survival (DFS). In KRAS mutated cases, high P4HA2 expression was the only significant poor prognostic indicator as regarding DFS. In conclusions, our data highlight that both SLUG and P4HA2 expression may serve as potentially important poor prognostic biomarkers in CRC and targeting these molecules may be providing a novel therapeutic strategy. In KRAS mutation group, high P4HA2 expression is the only independent prognostic factor for tumor recurrence, so it can be suggested to be a novel target for therapy.","PeriodicalId":18338,"journal":{"name":"Medical Molecular Morphology","volume":" ","pages":"167-176"},"PeriodicalIF":1.2,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11343967/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140194132","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

Histopathological growth pattern and vessel co-option in intrahepatic cholangiocarcinoma. 肝内胆管癌的组织病理学生长模式和血管并存。

IF 1.2 4区医学

Medical Molecular Morphology Pub Date : 2024-09-01 Epub Date: 2024-07-03 DOI: 10.1007/s00795-024-00392-1

Zihan Li, Hiep Nguyen Canh, Kenta Takahashi, Dong Le Thanh, Quynh Nguyen Thi, Rui Yang, Kaori Yoshimura, Yasunori Sato, Khuyen Nguyen Thi, Hiroki Nakata, Hiroko Ikeda, Kazuto Kozaka, Satoshi Kobayashi, Shintaro Yagi, Kenichi Harada

{"title":"Histopathological growth pattern and vessel co-option in intrahepatic cholangiocarcinoma.","authors":"Zihan Li, Hiep Nguyen Canh, Kenta Takahashi, Dong Le Thanh, Quynh Nguyen Thi, Rui Yang, Kaori Yoshimura, Yasunori Sato, Khuyen Nguyen Thi, Hiroki Nakata, Hiroko Ikeda, Kazuto Kozaka, Satoshi Kobayashi, Shintaro Yagi, Kenichi Harada","doi":"10.1007/s00795-024-00392-1","DOIUrl":"10.1007/s00795-024-00392-1","url":null,"abstract":"Intrahepatic cholangiocarcinoma (iCCA) exhibits different blood imaging features and prognosis depending on histology. To clarity histopathological growth patterns (HGPs) and vascularization processes of iCCA, we collected 145 surgical specimens and histologically classified them into large bile duct (LBD) (20 cases), small bile duct (SBD) (54), cholangiolocarcinoma (CLC) (35), combined SBD-CLC (cSBD-CLC) (26), and ductal plate malformation (DPM) (10) (sub)types. According to the invasive pattern at the interface between tumor and adjacent background liver, HGPs were classified into desmoplastic, pushing, and replacing HGPs. Desmoplastic HGP predominated in LBD type (55.5%), while replacing HGP was common in CLC (82.9%) and cSBD-CLC (84.6%) subtypes. Desmoplastic HGP reflected angiogenesis, while replacing HGP showed vessel co-option in addition to angiogenesis. By evaluating microvessel density (MVD) using vascular markers, ELTD1 identified vessel co-option and angiogenesis, and ELTD1-positive MVD at invasive margin in replacing HGP was significantly higher than those in desmoplastic and pushing HGPs. REDD1, an angiogenesis-related marker, demonstrated preferably higher MVD in the tumor center than in other areas. iCCA (sub)types and HGPs were closely related to vessel co-option and immune-related factors (lymphatic vessels, lymphocytes, and neutrophils). In conclusion, HGPs and vascular mechanisms characterize iCCA (sub)types and vessel co-option linked to the immune microenvironment.","PeriodicalId":18338,"journal":{"name":"Medical Molecular Morphology","volume":" ","pages":"200-217"},"PeriodicalIF":1.2,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11343874/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141498367","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

Vitamin D-metabolizing enzyme CYP24A1 affects oncogenic behaviors of oral squamous cell carcinoma and its prognostic implication. 维生素 D 代谢酶 CYP24A1 对口腔鳞状细胞癌致癌行为的影响及其预后意义

IF 1.2 4区医学

Medical Molecular Morphology Pub Date : 2024-09-01 Epub Date: 2024-05-21 DOI: 10.1007/s00795-024-00387-y

Yuna Nakamori, Akira Takasawa, Kumi Takasawa, Daisuke Kyuno, Yusuke Ono, Kazufumi Magara, Naoya Nakahashi, Shohei Sekiguchi, Kei Tsuchihashi, Akihiro Miyazaki, Makoto Osanai

{"title":"Vitamin D-metabolizing enzyme CYP24A1 affects oncogenic behaviors of oral squamous cell carcinoma and its prognostic implication.","authors":"Yuna Nakamori, Akira Takasawa, Kumi Takasawa, Daisuke Kyuno, Yusuke Ono, Kazufumi Magara, Naoya Nakahashi, Shohei Sekiguchi, Kei Tsuchihashi, Akihiro Miyazaki, Makoto Osanai","doi":"10.1007/s00795-024-00387-y","DOIUrl":"10.1007/s00795-024-00387-y","url":null,"abstract":"Vitamin D is an essential molecule for cellular homeostasis, playing a critical role in cell fate decisions including cell proliferation, differentiation, and viability. Accumulating evidence has revealed that expression of the vitamin D-metabolizing enzyme CYP24A1 is dysregulated in different types of human malignancy. CYP24A1 has been shown to be involved in the oncogenic property of a variety of carcinoma cells. However, the pathological relevance of CYP24A1 expression level in human oral malignancy remains to be clarified. In the present study, suppression of CYP24A1 expression in oral squamous cell carcinoma (OSCC) cells increased cell proliferation, invasive activity, colony formation efficacy, and tumor growth in vivo. In addition, knockout of CYP24A1 expression inhibited cell death induced by two different types of anticancer drugs, i.e., fluorouracil and cisplatin. Gene clustering by RNA-sequence analysis revealed that several signaling molecules associated with MYC are involved in CYP24A1-mediated oncogenic behaviors. Furthermore, decreased expression level of CYP24A1 was observed in 124/204 cases (61%) of OSCC and was shown to be associated with short relapse-free and overall survival periods. The results showed that a low expression level of CYP24A1 promotes the oncogenic activity of OSCC and is significantly associated with poor prognosis in patients with this malignancy.","PeriodicalId":18338,"journal":{"name":"Medical Molecular Morphology","volume":" ","pages":"185-199"},"PeriodicalIF":1.2,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141075741","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

Monomorphic T-cell post-transplant lymphoproliferative disorder with features of HHV8-negative primary effusion lymphoma: an autopsy case and review of the literature. 具有HHV8阴性原发性渗出淋巴瘤特征的单形T细胞移植后淋巴组织增生性疾病：一例尸检病例及文献综述。

IF 1.2 4区医学

Medical Molecular Morphology Pub Date : 2024-09-01 Epub Date: 2024-05-23 DOI: 10.1007/s00795-024-00388-x

Naoki Hosaka, Mitsuharu Hashimura, Atsuko Mugitani, Masanari Hamaguchi, Yuki Kubo, Shin-Ichi Nakatsuka

{"title":"Monomorphic T-cell post-transplant lymphoproliferative disorder with features of HHV8-negative primary effusion lymphoma: an autopsy case and review of the literature.","authors":"Naoki Hosaka, Mitsuharu Hashimura, Atsuko Mugitani, Masanari Hamaguchi, Yuki Kubo, Shin-Ichi Nakatsuka","doi":"10.1007/s00795-024-00388-x","DOIUrl":"10.1007/s00795-024-00388-x","url":null,"abstract":"A 67-year-old man underwent renal transplantation in his twenties. He developed refractory pleural effusion, with many large lymphocytes with severe atypia and mitosis in the effusion, indicating malignant lymphoma. He finally died of respiratory failure. An autopsy revealed atypical lymphocytes positive for CD3, CD4, and CD30 and negative for CD8, CD20, PAX5, human herpesvirus (HHV) 8, and Epstein-Barr virus-encoded small RNAs by immunohistochemistry and in situ hybridization. Atypical lymphocytes also had T-cell receptor gene rearrangements Jβ2, Jγ2, and Jδ1 and chromosomal aberrations der(8)t(1;8)(q21;p21), add(13)(q12), add(14)(q32), and add(16)(q12-13). A few atypical lymphocytes were present at other sites. We finally diagnosed this case as monomorphic T-cell post-transplant lymphoproliferative disorder with features of HHV8-negative primary effusion lymphoma. A literature review only identified six cases (four HHV8-negative, two HHV8-positive) of effusion lymphoma of T-cell type, including the present case. Interestingly, about half of HHV8-negative and HHV8-positive cases had a history of renal transplantation in their twenties. All cases showed tumor CD30 expression, whereas CD4 and CD8 expressions were inconsistent. These findings indicated that this lymphoma may be associated with post-transplant lymphoproliferative disorder by renal transplantation at a young age, although further cases need to be analyzed.","PeriodicalId":18338,"journal":{"name":"Medical Molecular Morphology","volume":" ","pages":"226-232"},"PeriodicalIF":1.2,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11343895/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141079744","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

Thymus transplantation as immunotherapy for the enhancement and/or correction of T cell function. 胸腺移植作为增强和/或纠正 T 细胞功能的免疫疗法。

IF 1.2 4区医学

Medical Molecular Morphology Pub Date : 2024-09-01 Epub Date: 2024-06-27 DOI: 10.1007/s00795-024-00394-z

Naoki Hosaka

引用次数: 0

Usage of nivolumab and ipilimumab for recurrent or advanced malignant vaginal melanoma: a two-case series. 使用nivolumab和ipilimumab治疗复发性或晚期恶性阴道黑色素瘤：两个病例系列。

IF 1.2 4区医学

Medical Molecular Morphology Pub Date : 2024-06-01 Epub Date: 2024-01-30 DOI: 10.1007/s00795-023-00377-6

Kota Konishi, Mamiko Okamoto, Ryuichi Tokumitsu, Mitsutake Yano, Kaei Nasu, Eiji Kobayashi

{"title":"Usage of nivolumab and ipilimumab for recurrent or advanced malignant vaginal melanoma: a two-case series.","authors":"Kota Konishi, Mamiko Okamoto, Ryuichi Tokumitsu, Mitsutake Yano, Kaei Nasu, Eiji Kobayashi","doi":"10.1007/s00795-023-00377-6","DOIUrl":"10.1007/s00795-023-00377-6","url":null,"abstract":"Immune checkpoint inhibitors help treat malignant melanoma, but show limited use in treating malignant vaginal melanoma, an aggressive, rare gynecological malignancy. We identified two patients treated with ipilimumab and nivolumab for vaginal melanoma; both were immunonegative for programmed cell death-ligand 1 and wild-type BRAF. Case 1, a 56-year-old female who underwent radical surgery for stage 1 malignant vaginal melanoma, experienced recurrence 15 months postoperatively. She briefly responded to ipilimumab and nivolumab combination therapy before showing disease progression. Tumor shrinkage occurred with nivolumab and local radiotherapy and, 45 months postoperatively, she survives with the melanoma. Case 2, a 50-year-old female, presented with a 4-cm blackish polypoid vaginal tumor with metastatic pelvic lymph nodes. She received ipilimumab and nivolumab combination therapy for stage III unresectable malignant vaginal melanoma. The vaginal tumor shrank after the third course of treatment, and the lymphadenopathy disappeared. The patient underwent radical surgery and is currently disease-free, using nivolumab for maintenance therapy. Both patients had immune-related adverse events coinciding with periods of high therapeutic efficacy of immune checkpoint inhibitors. Neoadjuvant therapy with immune checkpoint inhibitors and radiotherapy for immune checkpoint inhibitor resensitization may effectively treat advanced or recurrent vaginal melanoma.","PeriodicalId":18338,"journal":{"name":"Medical Molecular Morphology","volume":" ","pages":"83-90"},"PeriodicalIF":1.2,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11128387/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139576033","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

Characteristics of peripheral blood mononuclear cells and potential related molecular mechanisms in patients with autoimmune hepatitis: a single-cell RNA sequencing analysis. 自身免疫性肝炎患者外周血单核细胞的特征和潜在的相关分子机制：单细胞 RNA 测序分析。

IF 1.8 4区医学

Medical Molecular Morphology Pub Date : 2024-06-01 Epub Date: 2024-02-10 DOI: 10.1007/s00795-024-00380-5

Kazumichi Abe, Naoto Abe, Tatsuro Sugaya, Yosuke Takahata, Masashi Fujita, Manabu Hayashi, Atsushi Takahashi, Hiromasa Ohira

{"title":"Characteristics of peripheral blood mononuclear cells and potential related molecular mechanisms in patients with autoimmune hepatitis: a single-cell RNA sequencing analysis.","authors":"Kazumichi Abe, Naoto Abe, Tatsuro Sugaya, Yosuke Takahata, Masashi Fujita, Manabu Hayashi, Atsushi Takahashi, Hiromasa Ohira","doi":"10.1007/s00795-024-00380-5","DOIUrl":"10.1007/s00795-024-00380-5","url":null,"abstract":"Autoimmune hepatitis (AIH) is an immune disorder characterized by hypergammaglobulinemia, autoantibodies, and chronic active hepatitis on liver histology. However, immune cell population characteristics in AIH patients remain poorly understood. This study was designed to analyze peripheral blood mononuclear cell (PBMC) characteristics in AIH through single-cell RNA sequencing (scRNA-seq) and explore potential AIH-related molecular mechanisms. We generated 3690 and 3511 single-cell transcriptomes of PBMCs pooled from 4 healthy controls (HCs) and 4 AIH patients, respectively, by scRNA-seq. These pooled PBMC transcriptomes were used for cell cluster identification and differentially expressed gene (DEG) identification. GO functional enrichment analysis was performed on the DEGs to determine the most active AIH immune cell biological functions. Although the PCA-based uniform manifold approximation and projection (UMAP) algorithm was used to cluster cells with similar expression patterns in the two samples, 87 up- and 12 downregulated DEGs were retained in monocytes and 101 up- and 15 downregulated DEGs were retained in NK cells from AIH PBMCs. Moreover, enriched GO terms in the PBMC-derived monocyte and NK cell clusters were related mainly to antigen processing and presentation, IFN-γ-mediated signaling, and neutrophil degranulation and activation. These potential molecular mechanisms may be important targets for AIH treatment.","PeriodicalId":18338,"journal":{"name":"Medical Molecular Morphology","volume":" ","pages":"110-123"},"PeriodicalIF":1.8,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139716210","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