Clinical Neuropathology最新文献_第3页

Clinical and molecular assessment of cystic sellar salivary gland-like lesions. 囊状鞍唾液腺样病变的临床与分子评价。

IF 0.8 4区医学

Clinical Neuropathology Pub Date : 2025-03-01 DOI: 10.5414/NP301668

Joanne Lin, Timothy H Ung, Kurtis D Davies, Christie G Turin, Bette K Kleinschmidt-DeMasters

{"title":"Clinical and molecular assessment of cystic sellar salivary gland-like lesions.","authors":"Joanne Lin, Timothy H Ung, Kurtis D Davies, Christie G Turin, Bette K Kleinschmidt-DeMasters","doi":"10.5414/NP301668","DOIUrl":"10.5414/NP301668","url":null,"abstract":"Background: Symptomatic sellar salivary gland-like lesions (SSGLs) are uncommon, with fewer than two dozen case reports. Prior case reports have also not detailed pre- or postoperative endocrinopathies to determine if these lesions can be clinically distinguished prior to biopsy from Rathke cleft cysts (RCCs). In addition, prior molecular testing was attempted to provide further insights as to whether these might be developmental lesions or true neoplasms, but testing was unsuccessful.Materials and methods: Report of 2 new cases of SSGLs with molecular testing to assess for potential gene mutations, copy number alterations, and fusions with literature review detailing demographic, clinical, endocrinological, neuroimaging, histological, and outcome features.Results: A 53-year-old female and 33-year-old male developed large sellar lesions. The woman presented with fatigue and sudden-onset visual changes and the man with apoplectic-like severe headache. Biopsy specimens for both patients demonstrated clusters of histologically benign salivary gland-like acini accompanied by varying amounts of mucin and lymphocytic inflammation. None showed pituitary tumor. Postoperatively, one case developed persistent diabetes insipidus. Molecular testing revealed a lack of pathogenic mutations, copy number alterations, or gene fusions in both cases.Conclusion: SGGLs differ histologically and sometimes in size from RCCs, although both can be cystic, contain abundant mucin, and may result in postoperative transient or permanent diabetes insipidus; they cannot be completely distinguished preoperatively from RCCs. Molecular testing did not demonstrate any mutations, copy number changes, or fusions for either case. Lack of pathogenic genetic alterations suggest these lesions may not be true neoplasms.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":"44-54"},"PeriodicalIF":0.8,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143383703","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

Synchronous pituitary neuroendocrine tumors (PitNETs)/adenomas of triple SF1/PIT1/TPIT cell lineages with multiple hormone expression. 同步垂体神经内分泌肿瘤(PitNETs)/腺瘤的三重SF1/PIT1/TPIT细胞系多激素表达。

IF 0.8 4区医学

Clinical Neuropathology Pub Date : 2025-03-01 DOI: 10.5414/NP301630

Valérie Quinot, Johannes Herta, Alexander Stiglbauer-Tscholakoff, Florian W Kiefer, Johannes A Hainfellner

{"title":"Synchronous pituitary neuroendocrine tumors (PitNETs)/adenomas of triple SF1/PIT1/TPIT cell lineages with multiple hormone expression.","authors":"Valérie Quinot, Johannes Herta, Alexander Stiglbauer-Tscholakoff, Florian W Kiefer, Johannes A Hainfellner","doi":"10.5414/NP301630","DOIUrl":"10.5414/NP301630","url":null,"abstract":"Synchronous multiple pituitary neuroendocrine tumors (PitNETs)/adenomas are rare tumors of the anterior pituitary that are characterized by the expression of more than one pituitary transcription factor. Here, we describe and discuss an unusual case of synchronous multiple PitNETs/adenomas of triple SF1/PIT1/TPIT cell lineages. Clinical case presentation was that of a pituitary macroadenoma in a 69-year-old male patient suffering from visual impairment and high prolactin levels. Radiology featured a large, 3 × 2.5 × 3.5 cm suprasellar mass with a biphasic growth pattern. Transsphenoidal resection showed varying macroscopic appearances between anterior and posterior aspects of the tumor, which was confirmed on histology. Immunohistochemistry demonstrated varying expression of steroidogenic factor 1 (SF1) and T-box transcription factor (TPIT) in the anterior part of the tumor, while the posterior aspect of the tumor showed predominant expression of pituitary transcription factor 1 (PIT1). Immunofluorescence showed no colocalization of the different transcription factors in individual tumor cells. Hormone expression comprised FSH and α-subunit (in the SF1-positive components), prolactin (in the PIT1-positive components), and ACTH (in the TPIT-positive components). 6-months post-operative follow-up under treatment with cabergoline led further tumor mass reduction and significant decrease in prolactin levels. In sum, our case study expands existing data on synchronous PitNETs/adenomas of triple SF1/PIT1/TPIT cell lineages, and underscores the importance of comprehensive clinicopathological data assessment and synoptic interpretation. Further, we address so-far published literature on multilineage PitNETs, and suggest that existing pathophysiological knowledge would argue to interpret the findings in our case as synchronous PitNETs / adenomas of different cell lineages with multiple hormone expression.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":"55-62"},"PeriodicalIF":0.8,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143756080","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

Rhabdomyomatous mesenchymal hamartoma in association with spinal dysraphism in an infant. 横纹肌瘤间充质错构瘤与婴儿脊柱发育异常有关。

IF 0.8 4区医学

Clinical Neuropathology Pub Date : 2025-03-01 DOI: 10.5414/NP301652

Rachel Lockhart, Tafadzwa Mandiwanza, Alan Beausang

引用次数: 0

Cerebellar liponeurocytoma: An updated comprehensive review of clinicopathologic, immunohistochemical, and molecular features of an unusual but distinct tumor. 小脑脂质神经细胞瘤：一种不寻常但独特的肿瘤的临床病理、免疫组织化学和分子特征的最新综合综述。

IF 0.8 4区医学

Clinical Neuropathology Pub Date : 2025-01-01 DOI: 10.5414/NP301660

Giuseppe Broggi, Serena Salzano, Manuel Mazzucchelli, Giovanni Nunzio Rosano, Gaetano Magro, Rosario Caltabiano, Valeria Barresi

{"title":"Cerebellar liponeurocytoma: An updated comprehensive review of clinicopathologic, immunohistochemical, and molecular features of an unusual but distinct tumor.","authors":"Giuseppe Broggi, Serena Salzano, Manuel Mazzucchelli, Giovanni Nunzio Rosano, Gaetano Magro, Rosario Caltabiano, Valeria Barresi","doi":"10.5414/NP301660","DOIUrl":"10.5414/NP301660","url":null,"abstract":"Cerebellar liponeurocytoma (CL) is a rare WHO grade 2 tumor characterized by advanced neuronal differentiation and variable lipomatous features. Initially classified as a subtype of medulloblastoma, CL was later considered as a distinct entity owing to its peculiar morphological and molecular features and significant better outcome. Typically affecting adults, CL often presents with symptoms related to cerebellar dysfunction, including headaches, ataxia, and gait disturbances. On magnetic resonance imaging, this tumor presents as a well-defined, heterogeneous mass with lipomatous components, which may be less or more apparent depending on their extent. Histologically, CL is composed of neurocytic cells and lipidized tumor cells; the immunohistochemical positivity for synaptophysin and NeuN confirms the neuronal differentiation of neoplastic cells. In spite of its morphological similarity to medulloblastoma, CL lacks the genetic alterations commonly found in this tumor, but some cases display TP53 mutations. Complete surgical resection is the gold standard treatment, whereas the benefit of adjuvant radiotherapy is controversial. CL generally harbors a favorable prognosis, with low recurrence rates in cases with incomplete resection or high proliferative index. The present paper comprehensively reviews the literature about CL, emphasizing the clinicopathologic and molecular features of this unusual but distinct neuropathological entity.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":"26-37"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143383517","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

Cerebellar chromoblastomycosis in an immunocompetent individual: A rare case report with brief literature review. 免疫正常个体的小脑成色菌病：一例罕见病例报告并简要文献复习。

IF 0.8 4区医学

Clinical Neuropathology Pub Date : 2025-01-01 DOI: 10.5414/NP301643

Mousumi Biswas, Arun Gowda Keelara, Shruti Gupta, Niraj Kumari

引用次数: 0

Clinical Neuropathology 1-2025. 临床神经病理学1-2025。

IF 0.8 4区医学

Clinical Neuropathology Pub Date : 2025-01-01 DOI: 10.5414/NPP44001

Christian Mawrin

引用次数: 0

A rare case of glomus tumor of uncertain malignant potential of orbit with BRAF oncogenic mutation in a young female. 一例罕见的眼眶恶性潜能不确定的血管球瘤伴BRAF致癌突变的年轻女性。

IF 0.8 4区医学

Clinical Neuropathology Pub Date : 2025-01-01 DOI: 10.5414/NP301653

Sathyakumar Rima, Rangasamy Thiruvengadam Rajeswarie, Saritha Aryan, Prashant Alle

引用次数: 0

Sural nerve injury in Behçet's disease patients treated with thalidomide. 沙利度胺治疗beh<s:1>病患者腓肠神经损伤。

IF 0.8 4区医学

Clinical Neuropathology Pub Date : 2025-01-01 DOI: 10.5414/NP301657

Hui Wang, Jinjun Luo, Yun Yuan, Lingchao Meng

{"title":"Sural nerve injury in Behçet's disease patients treated with thalidomide.","authors":"Hui Wang, Jinjun Luo, Yun Yuan, Lingchao Meng","doi":"10.5414/NP301657","DOIUrl":"10.5414/NP301657","url":null,"abstract":"Introduction: Thalidomide has shown exceptional results in the management of Behçet's disease. Despite its efficacy, thalidomide is associated with a number of adverse effects, including peripheral neuropathy. This study aims to characterize the pathologic features of neuropathy in Behçet's disease patients who received thalidomide therapy.Materials and methods: Consecutive adult Behçet's disease patients who received thalidomide and developed neuropathy were collected. Clinical manifestations, electrophysiologic evaluations, and pathologic findings were studied.Results: Three patients who met the inclusion criteria were collected. Sensory deficits, particularly in the lower extremities, emerged in a length-dependent manner 6 - 12 months after initiation of thalidomide therapy. Symptoms remained unchanged after discontinuation of thalidomide for 2 years. Electrophysiologic evaluations showed sensory axonal polyneuropathy in all 3 patients who also received sural nerve biopsy. Histological findings confirmed axonal degenerations. A noteworthy finding was neurofilament accumulation in both myelinated and unmyelinated axons.Discussion: Sensory fibers, particularly in the lower extremities, were susceptible to thalidomide therapy. The features of thalidomide-induced neuropathy are characterized as axonal degeneration.Conclusion: Earlier recognition of thalidomide-induced sensory axonal neuropathy should be carried out in patients with Behçet's disease during the thalidomide therapy.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":"2-8"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143383774","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

Molecular evolution of metastatic meningioma: A case report. 转移性脑膜瘤的分子进化1例。

IF 0.8 4区医学

Clinical Neuropathology Pub Date : 2025-01-01 DOI: 10.5414/NP301669

Julian Kahr, Klaus-Peter Stein, Peter John, Torsten Walles, Martin Roepke, Belal Neyazi, I Erol Sandalcioglu, David R Raleigh, Christian Mawrin

引用次数: 0

Retracing RAS signaling by correlating protein expression in different subtypes of neurofibromatosis 1-associated nerve sheath tumors. 通过关联神经纤维瘤病 1 相关神经鞘瘤不同亚型中的蛋白质表达，重新追踪 RAS 信号转导。

IF 0.8 4区医学

Clinical Neuropathology Pub Date : 2024-07-01 DOI: 10.5414/NP301624

Christian Hagel, Louisa K N Nörnberg, Reinhard E Friedrich

{"title":"Retracing RAS signaling by correlating protein expression in different subtypes of neurofibromatosis 1-associated nerve sheath tumors.","authors":"Christian Hagel, Louisa K N Nörnberg, Reinhard E Friedrich","doi":"10.5414/NP301624","DOIUrl":"10.5414/NP301624","url":null,"abstract":"Aims: Expression patterns of key proteins involved in RAS signaling and connected pathways were determined and correlated to possibly provide information for therapeutic application of RAS inhibitors in neurofibromatosis type 1 (NF1)-associated peripheral nerve sheath tumors (PNST).Materials and methods: Clinical variables (age, sex), histological parameters (cell density, mitoses), and expression of immunohistochemically evaluated ligand and receptor proteins (neuregulin 1 (NRG1), ErbB2, ErbB3), RAS pathway proteins (mTor, Rho, phosphorylated MEK), transcription factors (Pax7, Sox9), and proliferation marker Ki-67, were correlated in cutaneous (CNF, n = 136), diffuse (DNF, n = 123)/diffuse plexiform (DPNF, n = 113), and plexiform neurofibroma (PNF, n = 126), and in malignant PNST (MPNST, n = 22).Results: In CNF, NRG1 correlated with Ki-67 and Pax7. Further, mTOR correlated with ErbB3, Sox9, Pax7, and Ki-67. In DNF/DPNF, expression of NRG1 correlated with pMEK and Pax7. mTOR correlated with pMEK, Sox9, and Pax7. Noteworthy, pMEK was weakly expressed in some DNF but not in DPNF. ErbB3 correlated with mTor and Ki-67. Furthermore, Rho correlated with Pax7 and Ki-67. In PNF, ErbB3 expression was associated with Sox9, mTOR, pMEK, and Pax7 as well as mTOR with Sox9 and Pax7, Rho with pMEK and Pax7, and pMEK with Pax7 and Sox9. In MPNST, only few correlations were observed, ErbB2 correlated with Ki-67, and Rho with pMEK.Conclusion: Signaling networks of the RAS pathway could be retraced by correlation analysis of protein expression in subgroups of NF1 associated benign PNST. In regard to treatment of PNST, MEK inhibitors, which are presently evaluated for PNF, may possibly also be effective to some extent in DNF.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":"104-112"},"PeriodicalIF":0.8,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141181125","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