Clinical Neuropathology最新文献_第10页

Cerebral amyloidomas: Perspective on unusual morphological features. 脑淀粉样瘤:异常形态学特征的透视。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2022-03-01 DOI: 10.5414/NP301440

Bette K Kleinschmidt-DeMasters

{"title":"Cerebral amyloidomas: Perspective on unusual morphological features.","authors":"Bette K Kleinschmidt-DeMasters","doi":"10.5414/NP301440","DOIUrl":"https://doi.org/10.5414/NP301440","url":null,"abstract":"Aims: Cerebral amyloidomas (CAs) are mass-producing congophilic lesions most commonly due to λ light chain deposits, contrasting them with light chain deposition disease (LCDD) which has non-polarizable, often κ light chain deposition.Materials and methods: Although usual histological features are well known, we detail 3 recent CAs with unusual morphological findings and review the literature specifically for these features.Results: Two women, aged 56 and 58 years, had right cerebral white matter CAs. The biopsy of case 1 disclosed congophilic polarizable deposits with prominent dystrophic mineralization as well as scant plasma cells. Case 2 had a CA with significant multinucleated giant cell reaction to the amyloid and additionally contained an area suspicious for marginal zone B-cell lymphoma. Case 3 was a clinically unsuspected CA identified at autopsy in a 75-year-old woman that manifested as several contiguous left frontal lobe white matter erythematous, hyperemic lesions; microscopy showed nodular and concentric amyloid deposits and thick perivascular cuffs of plasma cells. Mass spectrometry proved λ light and α heavy chain amyloid deposits in all 3 cases.Conclusion: These 3 CA cases illustrate several unusual gross and microscopic features that are discussed in context with the literature.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":"41 2","pages":"46-52"},"PeriodicalIF":1.1,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39766178","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

CNS paraganglioma: 15-year experience in a tertiary care hospital with literature review. 中枢神经系统副神经节瘤:在三级护理医院15年的经验与文献综述。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2022-03-01 DOI: 10.5414/NP301414

Nandita Ghosal, Parul Jain, Sumit Thakar, Koustav Ghosal

引用次数: 0

Primary histiocytic sarcoma of the clivus with focal extension into central nervous system and neurologic manifestations: First description at an unusual site with an overwhelming and rapid progression. 坡地原发性组织细胞肉瘤伴局灶性延伸至中枢神经系统及神经系统表现:首次描述为不寻常部位，进展迅速且势如挡。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2022-03-01 DOI: 10.5414/NP301400

Ivette Perez, Murat Gokden, John D Day, Hadi Yaziji, Sergio Pina-Oviedo

{"title":"Primary histiocytic sarcoma of the clivus with focal extension into central nervous system and neurologic manifestations: First description at an unusual site with an overwhelming and rapid progression.","authors":"Ivette Perez, Murat Gokden, John D Day, Hadi Yaziji, Sergio Pina-Oviedo","doi":"10.5414/NP301400","DOIUrl":"https://doi.org/10.5414/NP301400","url":null,"abstract":"Histiocytic sarcoma (HS) is a rare malignant neoplasm of macrophage-dendritic cell lineage that can occur at any site. Primary base of skull involvement is exceedingly rare. We present the case of a previously healthy 56-year-old man who complained of headaches and showed localized neurologic symptoms. Magnetic resonance imaging demonstrated a hyperintense and enhancing mass involving the sphenoid bone and the clivus with an extradural component that compressed the distal pons. The differential diagnosis included chordoma or chondrosarcoma. An endoscopic trans-sphenoidal resection was performed. Microscopically, the tumor showed epithelioid and spindle morphology with atypia, mitoses, and necrosis. No osteoid, cartilaginous, or myxoid matrix was identified. By immunohistochemistry, the tumor was positive for CD68 (KP-1) and lysozyme, variably positive for CD4, CD11c, CD14, CD68 (PGM-1), CD45, and CD163, and negative for markers of epithelial, melanocytic, lymphoid, myeloid, muscle, and dendritic cell origin. Expression of PD-L1 by immunohistochemistry and BRAF V600E mutation analysis by PCR were negative. Tumor recurrence developed after radiation treatment with overwhelming progression into a largely infiltrating mass within 2 weeks with clinical deterioration, and the patient died 3 months later. To our knowledge, this represents the first case of primary HS of the clivus reported to date in the English literature, further expanding the spectrum of neoplasms seen at this site as well as the sites where HS can be seen. The overall prognosis of HS in the skull base is poor, with no standard treatment. Further research is warranted to develop effective treatment approaches, which in the future may rely on the expression of checkpoint inhibitors and/or specific molecular markers.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":"41 2","pages":"74-82"},"PeriodicalIF":1.1,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39765769","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: 1

Purulent meningitis as complication of acute sinusitis in a patient with attenuated lamina cribrosa. 化脓性脑膜炎作为急性鼻窦炎的并发症，减薄薄层患者。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2022-03-01 DOI: 10.5414/NP301416

Pavol Janega, Kristina Mikus Kuracinova, Barbora Kleinova, Jarmila Zelezkovova, Andrea Janegova

引用次数: 0

Clinical Neuropathology 2-2022. 临床神经病理学2-2022。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2022-03-01 DOI: 10.5414/NPP41043

Ingeborg Fischer, Johannes A Hainfellner

引用次数: 0

On the classification of cerebral tumors: A tribute to Leonid Smirnov. 关于脑肿瘤的分类:向列昂尼德·斯米尔诺夫致敬。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2022-03-01 DOI: 10.5414/NP301418

Boleslav Lichterman, Lyudmila Shishkina, Leonid Likhterman

引用次数: 0

The efficacy of immunohistochemistry in the diagnosis of molecular genetic alterations in central nervous system gliomas: Next-generation sequencing of 212 mutations in 112 patients. 免疫组织化学在中枢神经系统胶质瘤分子遗传改变诊断中的作用:112例患者212个突变的新一代测序

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2022-01-01 DOI: 10.5414/NP301381

Elena V Daoud, Rati Chkheidze, Paul C Yell, Kimmo J Hatanpaa, Jack M Raisanen, Chunyu Cai

{"title":"The efficacy of immunohistochemistry in the diagnosis of molecular genetic alterations in central nervous system gliomas: Next-generation sequencing of 212 mutations in 112 patients.","authors":"Elena V Daoud, Rati Chkheidze, Paul C Yell, Kimmo J Hatanpaa, Jack M Raisanen, Chunyu Cai","doi":"10.5414/NP301381","DOIUrl":"https://doi.org/10.5414/NP301381","url":null,"abstract":"Identification of molecular genetic alterations has become an important part of diagnosis and care of patients with brain tumors. Comparisons of immunohistochemistry (IHC) with DNA sequencing techniques have suggested that IHC is useful for identifying surrogates of mutations in gliomas; however, studies of the efficacy are relatively few. Our aim was to compare IHC in our neuropathology laboratory with a commercially available next-generation sequencing (NGS) platform, Tempus xT. We studied 212 immunohistochemically stained sections of gliomas to identify mutations of isocitrate dehydrogenase (IDH), p53, BRAF, the α-thalassemia/mental retardation syndrome X-linked protein (ATRX), and histone H3. Tempus xT NGS confirmed the IHC diagnosis of IDH1/R132H in 102 of 102 patients (100%), BRAF/V600E in 14 of 14 (100%) patients and H3/K27M in 10 of 10 (100%) patients. For p53, NGS confirmed the IHC diagnosis of mutation in 47 of 53 (87%) patients. For 6 patients, IHC was interpreted as wild-type while NGS indicated a mutation. NGS confirmed the IHC diagnosis of ATRX mutation in 29 of 31 (94%) patients. In 1 patient, IHC predicted a mutation that was not confirmed by NGS, and in another, IHC predicted wild-type, but NGS showed mutant. In 2 other patients, IHC diagnosis of ATRX mutation was equivocal; 1 was mutant and 1 was wild-type by NGS. Our single-center study suggests that IHC for IDH1/R132H, BRAF/V600E, and H3/K27M is highly reliable and may be used confidently in clinical practice. IHC for p53 and ATRX mutations is often reliable but possibly problematic, and genetic studies may be necessary to determine astrocytic or oligodendroglial differentiation.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":"41 1","pages":"35-40"},"PeriodicalIF":1.1,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39536107","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: 2

Cerebellar liponeurocytoma in an elderly patient: DNA methylation profiling as a helpful diagnostic tool. 老年患者小脑脂质神经细胞瘤:DNA甲基化分析作为一种有用的诊断工具。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2022-01-01 DOI: 10.5414/NP301415

Hiba Alzoubi, Francesca Gianno, Yussuf Abuelhaija, Angam Ayyoub Najadat, Ahmad Mustafa, Aws Younes Al-Arman, Lujain Younes Al-Arman, Dana Banihani, Aya Mustafa, Noor Abualdahab, Giuseppe Broggi, Gabriele Gaggero, Nataniele Piol, Pietro Fiaschi, Evelina Miele, Felice Giangaspero

引用次数: 1

Clinical-pathological study of 28 glial and mixed neuronal-glial tumors diagnosed within the first year of life. 28例一岁以内诊断的神经胶质及混合神经胶质肿瘤的临床病理研究。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2022-01-01 DOI: 10.5414/NP301405

Anna Maria Buccoliero, Chiara Caporalini, Selene Moscardi, Barbara Spacca, Mirko Scagnet, Francesca Castiglione, Iacopo Sardi, Laura Giunti, Lorenzo Genitori

{"title":"Clinical-pathological study of 28 glial and mixed neuronal-glial tumors diagnosed within the first year of life.","authors":"Anna Maria Buccoliero, Chiara Caporalini, Selene Moscardi, Barbara Spacca, Mirko Scagnet, Francesca Castiglione, Iacopo Sardi, Laura Giunti, Lorenzo Genitori","doi":"10.5414/NP301405","DOIUrl":"https://doi.org/10.5414/NP301405","url":null,"abstract":"Our purpose was to investigate the incidence of gliomas and neuronal-glial tumors, their outcome, and H3.3K27M, BRAFV600E, and IDH status in children within 1 year of age affected by CNS tumor. We collected 28 consecutive gliomas and mixed tumors. Immunohistochemistry and/or molecular analyses were performed on formalin-fixed/paraffin-embedded specimens. 24 (86%) tumors were supratentorial. 15 (54%) tumors were astrocytomas (5 glioblastomas, 1 anaplastic astrocytoma, 1 pilocytic astrocytoma, 3 pilomixoid astrocytomas, 2 subependymal giant cell astrocytomas, 3 astrocytomas not otherwise specified (NOS)), 4 (14%) were anaplastic ependymomas, and 9 (32%) were mixed tumors (5 gangliogliomas, 2 gangliocytomas, 2 desmoplastic infantile gangliogliomas (DIGs)). Alive patients were: 4 (67%) affected by high-grade astrocytoma (mean follow-up 64 months), 4 (67%) affected by low-grade astrocytoma (mean follow-up 83 months), 2 (67%) affected by astrocytoma NOS (mean follow-up 60 months), 1 (25%) affected by anaplastic ependymoma (follow-up 12 months), and 9 (100%) affected by mixed tumors (mean follow-up 74 months). H3.3K27M and IDH were not-mutated in any tumor (100%). BRAFV600E mutation was documented in 6 (21%) tumors (4 gangliogliomas, 1 gangliocytoma, and 1 astrocytoma NOS resulted as anaplastic pleomorphic xanthoastrocytoma 8 years later). Gliomas and mixed tumors diagnosed within 1 year of age are morphologically heterogeneous. Moreover, analogously to those affecting older children, they are IDH1-2 and H3.3K27M (when located outside midline) not-mutated while BRAFV600E mutation is typical of gangliogliomas/gangliocytomas and pleomorphic xanthoastrocytomas. High-grade astrocytomas have a more favorable prognosis compared with the same lesions occurring later in life while ependymomas have a poorer outcome.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":"41 1","pages":"25-34"},"PeriodicalIF":1.1,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39499548","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

Story of the solitary subependymal giant cell astrocytoma: A case report and literature review. 单发室管膜下巨细胞星形细胞瘤1例报告并文献复习。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2022-01-01 DOI: 10.5414/NP301406

Mahjabeen Khan, Miguel A Guzman, Aline Tanios

引用次数: 1