Brain Tumor Pathology最新文献

Reappraisal of novel molecular parameters for meningioma grading by cIMPACT-NOW update 8 proposals. 通过cIMPACT-NOW重新评估脑膜瘤分级的新分子参数更新8项建议。

IF 3 3区医学

Brain Tumor Pathology Pub Date : 2025-10-01 DOI: 10.1007/s10014-025-00520-4

Kenta Masui, Asuka Komori, Shuhei Morita, Seiichiro Eguchi, Takakazu Kawamata, Mayu Kashiwagi-Hakozaki, Atsushi Kurata, Takashi Komori

引用次数: 0

Ataxin-2 as a candidate blood biomarker for estimating disease status in cases of suspected glioblastoma recurrence. Ataxin-2作为估计胶质母细胞瘤复发病例疾病状态的候选血液生物标志物。

IF 3 3区医学

Brain Tumor Pathology Pub Date : 2025-09-22 DOI: 10.1007/s10014-025-00517-z

Farida Garaeva, Riho Nakajima, Sho Tamai, Kensuke Tateishi, Akitake Mukasa, Shinji Kawabata, Hiroaki Nagashima, Manabu Natsumeda, Nozomi Hirai, Shota Tanaka, Shigeo Ohba, Nayuta Higa, Yoshiki Arakawa, Akihide Kondo, Hidehiro Kohzuki, Shinichiro Koizumi, Yutaka Fujioka, Tatsuya Abe, Hemragul Sabit, Masashi Kinoshita, Yasuo Uchida, Sumio Ohtsuki, Mitsutoshi Nakada

{"title":"Ataxin-2 as a candidate blood biomarker for estimating disease status in cases of suspected glioblastoma recurrence.","authors":"Farida Garaeva, Riho Nakajima, Sho Tamai, Kensuke Tateishi, Akitake Mukasa, Shinji Kawabata, Hiroaki Nagashima, Manabu Natsumeda, Nozomi Hirai, Shota Tanaka, Shigeo Ohba, Nayuta Higa, Yoshiki Arakawa, Akihide Kondo, Hidehiro Kohzuki, Shinichiro Koizumi, Yutaka Fujioka, Tatsuya Abe, Hemragul Sabit, Masashi Kinoshita, Yasuo Uchida, Sumio Ohtsuki, Mitsutoshi Nakada","doi":"10.1007/s10014-025-00517-z","DOIUrl":"https://doi.org/10.1007/s10014-025-00517-z","url":null,"abstract":"Differentiating pseudoprogression (PsP) from recurrence in cases of glioblastoma (GBM) after chemoradiotherapy is challenging, with neuroimaging as the only non-invasive method. In this study, we aimed to identify a blood biomarker for precise disease monitoring and investigated the role of Ataxin-2 (ATXN2). Blood samples (n = 45) from patients with suspected recurrence, including eight with PSP, were analyzed. In addition, tumor tissue samples (n = 22), including those from seven patients who also provided blood samples, were examined. Protein levels were assessed using quantitative proteomics and ELISA. ATXN2 levels were measured via western blotting, and localization was determined through immunohistochemistry and immunocytochemistry. ATXN2 knockdown was performed in glioma cell lines to assess its effects on proliferation, migration, and invasion. Proteomics identified ATXN2 as a potential biomarker. ELISA showed significantly higher serum ATXN2 levels in recurrence than in PsP (p = 0.028). ATXN2 ≥ 11.0 ng/mL and ≥ 8 months post-chemoradiotherapy distinguished recurrence from PsP (AUC = 0.82, sensitivity = 67.6%, specificity = 87.5%). ATXN2 was highly expressed in GBM tissues, localized in neurons and glioma cells, and its knockdown enhanced proliferation, migration, and invasion via ERK phosphorylation. ATXN2, highly expressed in GBM, may serve as a potential blood biomarker for distinguishing PsP from recurrence.","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145112023","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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

Diffuse midline glioma, H3K27-altered: a rare presentation with gliomatosis cerebri growth pattern and progression toward midline. 弥漫性中线胶质瘤，h3k27改变：一种罕见的脑胶质瘤病的生长模式和向中线的进展。

IF 3 3区医学

Brain Tumor Pathology Pub Date : 2025-09-17 DOI: 10.1007/s10014-025-00515-1

Masahiro Uchimura, Asuka Araki, Hirotake Eda, Yoriyoshi Kimura, Kentaro Hayashi

{"title":"Diffuse midline glioma, H3K27-altered: a rare presentation with gliomatosis cerebri growth pattern and progression toward midline.","authors":"Masahiro Uchimura, Asuka Araki, Hirotake Eda, Yoriyoshi Kimura, Kentaro Hayashi","doi":"10.1007/s10014-025-00515-1","DOIUrl":"https://doi.org/10.1007/s10014-025-00515-1","url":null,"abstract":"A limited number of cases involving non-midline lesions have been documented in diffuse midline glioma (DMG), H3K27-altered, for which a definitive classification has yet to be developed. Additionally, no studies have investigated the temporal evolution of imaging features in diffuse non-midline gliomas. We herein report a case of DMG, H3K27-altered, initially presenting with a gliomatosis cerebri-like appearance, cystic lesions in the right frontal lobe, and progression toward the brainstem. Histopathological analysis and comprehensive genomic profiling indicated glioblastoma (GBM) or DMG, H3K27-altered. The patient was diagnosed with GBM because of imaging characteristics atypical for DMG; however, 9 months after the initial diagnosis, a pontine glioma emerged. This case indicates that DMG, H3K27-altered, may exhibit atypical characteristics, including non-midline cystic lesions, that can subsequently progress to pontine gliomas. Considering the limited therapeutic options available for this malignancy, the early recognition of such atypical presentations is crucial for achieving a timely and accurate diagnosis of DMG, H3K27-altered.","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145074492","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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

Meningioma with trabecular architecture: a harbinger of BAP1 deficiency. 伴有小梁结构的脑膜瘤：BAP1缺乏的先兆。

IF 3 3区医学

Brain Tumor Pathology Pub Date : 2025-09-13 DOI: 10.1007/s10014-025-00516-0

Noriko Okuno, Takahiro Tomita, Takuya Akai, Satoshi Kuroda, Hiromasa Takakura, Kenichi Hirabayashi, Masakiyo Sasahara, Akira Kurose, Katsuyoshi Takata

{"title":"Meningioma with trabecular architecture: a harbinger of BAP1 deficiency.","authors":"Noriko Okuno, Takahiro Tomita, Takuya Akai, Satoshi Kuroda, Hiromasa Takakura, Kenichi Hirabayashi, Masakiyo Sasahara, Akira Kurose, Katsuyoshi Takata","doi":"10.1007/s10014-025-00516-0","DOIUrl":"https://doi.org/10.1007/s10014-025-00516-0","url":null,"abstract":"BRCA (BReast CAncer gene)-associated protein 1 (BAP1) is a tumor suppressor protein encoded by the BAP1 gene. BAP1 mutations and the loss of BAP1 expression on immunohistochemistry are poor prognostic factors for meningiomas. These mutations have been previously reported in papillary and rhabdoid meningiomas. However, BAP1-deficient meningiomas with a trabecular architecture are rare, with only one previous report describing two cases. Here, we present the case of an 80-year-old male who experienced two recurrences of meningiomas over a 14-year period. The initial tumor exhibited a mixture of typical meningothelial meningioma and meningioma with trabecular architecture, whereas the second recurrence was almost entirely trabecular. Immunohistochemical analysis revealed a BAP1 deficiency. This case highlights the importance of the trabecular architecture as a histological pattern that may indicate BAP1 loss and poor prognosis. Given the potential for targeted therapies, further research is needed to establish this histological subtype as an independent entity with poor prognosis.","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145051812","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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

Emergence of NEC features in corticotroph PitNETs: primary tumor, radiation-induced transformation, or metastasis? 皮质性PitNETs中NEC特征的出现：原发肿瘤、辐射诱导转化还是转移？

IF 3 3区医学

Brain Tumor Pathology Pub Date : 2025-09-03 DOI: 10.1007/s10014-025-00514-2

Naoko Inoshita, Hiroshi Nishioka, Noriaki Fukuhara, Keita Tatsushima, Akira Takeshita, Yasuhiro Takeuchi, Yutaka Takazawa, Naotetsu Kanamoto, Shozo Yamada

{"title":"Emergence of NEC features in corticotroph PitNETs: primary tumor, radiation-induced transformation, or metastasis?","authors":"Naoko Inoshita, Hiroshi Nishioka, Noriaki Fukuhara, Keita Tatsushima, Akira Takeshita, Yasuhiro Takeuchi, Yutaka Takazawa, Naotetsu Kanamoto, Shozo Yamada","doi":"10.1007/s10014-025-00514-2","DOIUrl":"https://doi.org/10.1007/s10014-025-00514-2","url":null,"abstract":"Pituitary neuroendocrine tumors (PitNETs) are generally benign, but a small subset may demonstrate aggressive behavior or undergo malignant transformation. Neuroendocrine carcinoma (NEC), defined as a high-grade, poorly differentiated neuroendocrine neoplasm, is extremely rare in the pituitary, and its existence as a primary entity remains controversial. We report two cases of corticotroph PitNETs in female patients with Cushing disease, in which NEC components emerged several years after radiotherapy. Case 1 presented as an invasive macroadenoma with cavernous sinus invasion, and Case 2 as a 5 mm microadenoma. In both cases, recurrent tumors developed following subsequent radiotherapy. NEC components exhibited marked nuclear pleomorphism, necrosis, elevated Ki-67 indices, diffuse p53 expression, and loss or reduction of ACTH and TPIT expression. In Case 2, faint TPIT expression and discontinuous tumor growth within the sella raised the possibility of a metastatic NEC to the pituitary could not be excluded. These cases highlight the emergence of NEC features in corticotroph PitNETs, most likely as a result of post-radiotherapy transformation. However, due to faint TPIT expression and an unusual tumor distribution in Case 2, the possibility of a primary NEC or metastatic neuroendocrine neoplasm from another organ cannot be definitively excluded.","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144943541","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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

A case of primary papillary epithelial tumor of the sella with reverse polarity and paired box 8 expression. 鞍原发乳头状上皮肿瘤1例，极性相反，盒8成对表达。

IF 3 3区医学

Brain Tumor Pathology Pub Date : 2025-08-27 DOI: 10.1007/s10014-025-00513-3

MingXun Zhang, AnLi Zhang, Yuan Li, Wei Wang, HaiBo Wu

{"title":"A case of primary papillary epithelial tumor of the sella with reverse polarity and paired box 8 expression.","authors":"MingXun Zhang, AnLi Zhang, Yuan Li, Wei Wang, HaiBo Wu","doi":"10.1007/s10014-025-00513-3","DOIUrl":"https://doi.org/10.1007/s10014-025-00513-3","url":null,"abstract":"Primary papillary epithelial tumor of the sella (PPETS) is a rare sellar neoplasm characterized by distinctive papillary architecture and thyroid transcription factor 1 (TTF-1) expression. DNA methylation profiling suggests its classification within the posterior pituitary tumor category. Here, we report a case of PPETS in a 37 year-old female presenting with amenorrhea, featuring unique morphological and immunohistochemical characteristics. The tumor exhibited atypical reversed nuclear polarity and, notably, demonstrated positive expression of paired box 8 (PAX-8) and synaptophysin-findings not previously reported in PPETS. Following comprehensive evaluation, including DNA methylation analysis and exclusion of metastatic disease, the tumor was classified as a posterior pituitary tumor, confirming the diagnosis of PPETS. This case expands the known morphological and immunohistochemical spectrum of PPETS, highlighting the importance of careful differential diagnosis from pituitary adenomas and metastatic carcinomas. Further investigation is warranted to fully characterize the morphological variants and immunophenotypic diversity of this rare tumor type.","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144943543","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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

How is rosette formation in brain tumours linked with cerebrospinal fluid spread? 脑肿瘤玫瑰花结形成与脑脊液扩散有何关系？

IF 3 3区医学

Brain Tumor Pathology Pub Date : 2025-08-12 DOI: 10.1007/s10014-025-00512-4

Ashwin Kumaria, Keyoumars Ashkan, Donald C Macarthur

{"title":"How is rosette formation in brain tumours linked with cerebrospinal fluid spread?","authors":"Ashwin Kumaria, Keyoumars Ashkan, Donald C Macarthur","doi":"10.1007/s10014-025-00512-4","DOIUrl":"https://doi.org/10.1007/s10014-025-00512-4","url":null,"abstract":"Rosette formation, a characteristic histopathological feature of various paediatric brain tumours, appears to be linked with cerebrospinal fluid (CSF) dissemination. Tumours like medulloblastoma, ependymoma, retinoblastoma, pineal region, and embryonal tumours, known for their rosette formations, also exhibit a propensity for CSF spread, which can manifest as drop metastases and leptomeningeal involvement. CSF dissemination is detected early in the disease course and contributes to significant diagnostic and management challenges. The structure of rosettes, consisting of tumour cells arranged in a circular halo around a central lumen, may facilitate tumour spread along CSF pathways, potentially through interactions with interstitial fluid and CSF dynamics. Recent insights into the glymphatic system, which regulates fluid flow between brain parenchyma and CSF, suggest that tumours infiltrating perivascular spaces, particularly those expressing aquaporins such as aquaporin-4, may exploit these pathways for metastasis. Tumours with marked rosette formation also show a higher risk of associated hydrocephalus, which may persist post-tumour resection. Additionally, the mechanical and chemical affinities of rosette-forming tumour cells for interstitial and CSF spaces could drive this spread. Understanding the relationship between rosette formation and CSF dissemination offers potential therapeutic targets, including aquaporin modulation, to prevent metastasis and manage CSF-related complications in brain tumours.","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144820642","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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

Activated astrocytes drive the accumulation of apolipoprotein E at the brain tumor edge. 激活的星形胶质细胞驱动载脂蛋白E在脑肿瘤边缘的积累。

IF 3 3区医学

Brain Tumor Pathology Pub Date : 2025-07-31 DOI: 10.1007/s10014-025-00511-5

Ting-Yi Chien, Chi-Shiun Chiang

{"title":"Activated astrocytes drive the accumulation of apolipoprotein E at the brain tumor edge.","authors":"Ting-Yi Chien, Chi-Shiun Chiang","doi":"10.1007/s10014-025-00511-5","DOIUrl":"https://doi.org/10.1007/s10014-025-00511-5","url":null,"abstract":"While tumor-associated macrophages (TAMs) have been extensively studied, the role of tumor-associated astrocytes (TAAs) in glioma progression is less explored. Astrocytes are crucial in maintaining lipid homeostasis by synthesizing cholesterol and apolipoprotein E (APOE) in the brain. However, the contribution of astrocytes in supporting the metabolic needs of tumor cells within the tumor microenvironment (TME) is still poorly understood. This study aims to investigate how astrocytes contribute to the unique brain TME by examining the spatial distribution of APOE and its correlation with glial cells. This study examined the spatial distribution of APOE in gliomas with two murine brain tumor models: ALTS1C1 and GL261. To validate astrocyte APOE secretion, in situ hybridization (ISH) for APOE mRNA and immunofluorescence (IF) staining for GFAP were performed. Immunofluorescence (IF) staining showed that APOE was accumulated at the tumor edge. ISH analysis confirmed that activated astrocytes were the primary cells responsible for the increased APOE in this region. Flow cytometry and IF staining demonstrated that TAMs were also associated with increased APOE expression in the tumor core. This study provides the first evidence that astrocytes at the tumor edge are activated and upregulated for APOE secretion. These brain tumor edge-associated astrocytes are responsible for the accumulation of APOE in this region and create a unique metabolic environment, which may contribute to brain tumor invasion and resistance to therapy.","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144759224","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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

Integrated analysis of MYC expression, 8q24.21 copy number, and recurrence patterns in astrocytoma, IDH-mutant. 星形细胞瘤idh突变体MYC表达、8q24.21拷贝数与复发模式的综合分析

IF 3 3区医学

Brain Tumor Pathology Pub Date : 2025-07-27 DOI: 10.1007/s10014-025-00506-2

Masanobu Kumon, Shunsuke Nakae, Shigeo Ohba, Masato Abe, Seiji Yamada, Hikaru Sasaki, Takema Kato, Hiroki Kurahashi, Yuichi Hirose

{"title":"Integrated analysis of MYC expression, 8q24.21 copy number, and recurrence patterns in astrocytoma, IDH-mutant.","authors":"Masanobu Kumon, Shunsuke Nakae, Shigeo Ohba, Masato Abe, Seiji Yamada, Hikaru Sasaki, Takema Kato, Hiroki Kurahashi, Yuichi Hirose","doi":"10.1007/s10014-025-00506-2","DOIUrl":"https://doi.org/10.1007/s10014-025-00506-2","url":null,"abstract":"Compared to oligodendrogliomas, astrocytomas may have a relatively higher frequency of intracranial remote recurrence, despite generally favorable prognoses. Previous studies identified 8q gain, particularly in the terminal region, as a poor prognostic factor. This study evaluated MYC expression and its relationship with copy number gain at 8q24.21, in relation to recurrence patterns in astrocytomas, with a particular focus on intracranial remote recurrence. A retrospective analysis was conducted on 27 patients treated between 2006 and 2019. MYC expression was assessed by immunohistochemistry (IHC), and copy number status by metaphase comparative genomic hybridization and next-generation sequencing. Recurrence patterns were categorized as local or remote.Among 43 specimens analyzed by IHC, MYC expression was observed in 72%, with higher positivity in recurrent (80%) than initial (61%) specimens, though the difference was not statistically significant (p = 0.30). Copy number analysis showed a significant increase in 8q24.21 copy number in specimens from cases with remote recurrence compared to those with local recurrence (p = 0.033). However, no significant correlation was found between MYC copy number and protein expression (p = 0.055). These findings suggest that MYC is frequently expressed in astrocytomas, but its expression does not significantly reflect 8q gain or recurrence pattern.","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144728051","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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

Comprehensive molecular characterization of craniopharyngiomas using whole transcriptome and spatial transcriptomics approaches. 利用全转录组和空间转录组方法对颅咽管瘤进行综合分子表征。

IF 2.7 3区医学

Brain Tumor Pathology Pub Date : 2025-07-09 DOI: 10.1007/s10014-025-00509-z

Špela Kert, Alenka Matjašič, Jože Pižem, Jernej Mlakar, Matic Bošnjak, Miha Jerala, Primož Kotnik, Barbara Faganel Kotnik, Lidija Kitanovski, Andrej Zupan

{"title":"Comprehensive molecular characterization of craniopharyngiomas using whole transcriptome and spatial transcriptomics approaches.","authors":"Špela Kert, Alenka Matjašič, Jože Pižem, Jernej Mlakar, Matic Bošnjak, Miha Jerala, Primož Kotnik, Barbara Faganel Kotnik, Lidija Kitanovski, Andrej Zupan","doi":"10.1007/s10014-025-00509-z","DOIUrl":"https://doi.org/10.1007/s10014-025-00509-z","url":null,"abstract":"Craniopharyngiomas (CPs) are rare benign brain tumors that are classified as WHO grade I, with two subtypes: adamantinomatous craniopharyngioma (ACP) and papillary craniopharyngioma (PCP). ACP is caused by somatic mutations in exon 3 of the CTNNB1 gene activating the Wnt signaling pathway. PCP is associated with somatic BRAF p.V600E mutations activating the MAPK signaling pathway. Understanding their molecular differences is crucial for diagnosis and treatment. This study aimed to analyze common somatic alterations in ACP and PCP using bulk transcriptome sequencing and in situ spatial transcriptomics. RNA sequencing and high-resolution spatial profiling were used to detect mutations and examine gene expression differences among ACP, PCP, and healthy pituitary tissue. Whole transcriptome sequencing was performed on 24 tumor samples, with healthy pituitary data from the GTEx portal. Bioinformatics analysis utilized the CTAT mutation pipeline, with Sanger sequencing for validation. Results confirmed BRAF p.V600E mutations in all PCP samples and CTNNB1 mutations in all ACP samples. Differential gene expression analysis highlighted distinct molecular profiles and reinforced the involvement of Wnt and MAPK signaling. Spatial profiling identified 41 differentially expressed genes between ACP and PCP. This study provides critical insights into CP biology, supporting improved diagnostics and potential therapeutic strategies.","PeriodicalId":9226,"journal":{"name":"Brain Tumor Pathology","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144599488","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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