Clinical Neuropathology最新文献_第10页

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

Exploring immunoreactivity of TTF-1 and AVP in hypothalamic hamartoma. 探讨下丘脑错构瘤中TTF-1和AVP的免疫反应性。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2022-01-01 DOI: 10.5414/NP301383

Shilpa Rao, Kotakonda Sunitha, Vivek Lanka, Karthik Kulanthaivelu, Arimappamagan Arivazhagan, Ravindranadh Chowdary, Kenchaiah Raghavendra, Ravimohan Rao, Bevinahalli N Nandeesh, Rose Dawn Bharath, Jitender Saini, Sanjib Sinha, Vani Santosh, Thagadur C Yasha, Jamuna Rajeswaran, Bhaskara Rao Malla, Anita Mahadevan

{"title":"Exploring immunoreactivity of TTF-1 and AVP in hypothalamic hamartoma.","authors":"Shilpa Rao, Kotakonda Sunitha, Vivek Lanka, Karthik Kulanthaivelu, Arimappamagan Arivazhagan, Ravindranadh Chowdary, Kenchaiah Raghavendra, Ravimohan Rao, Bevinahalli N Nandeesh, Rose Dawn Bharath, Jitender Saini, Sanjib Sinha, Vani Santosh, Thagadur C Yasha, Jamuna Rajeswaran, Bhaskara Rao Malla, Anita Mahadevan","doi":"10.5414/NP301383","DOIUrl":"https://doi.org/10.5414/NP301383","url":null,"abstract":"Introduction: Hypothalamic hamartoma (HH) is a rare developmental disorder presenting with gelastic seizures or precocious puberty attributed to gonadotrophin-releasing hormone expression by the hamartoma. The histogenesis of HH is uncertain, and diagnosis of HH is difficult in small biopsies due to its close resemblance to normal hypothalamic nuclei. TTF-1 and arginine vasopressin (AVP) are associated with gonadotropin-releasing hormone release.Materials and methods: In this study, we explored the expression pattern of TTF-1 and AVP in HH and its utility, if any, in diagnosis. We reviewed the clinical, radiologic, and histopathological features of 23 HH diagnosed over the past decade at our Institute.Results: The age at presentation ranged from 11 months to 34 years with gelastic seizures (82.6%), precocious puberty (17.4%), and developmental delay (8.7%) as presenting symptoms. On imaging, all the lesions (n = 9) involved the posterior and tuberal group of hypothalamic nuclei, while 5 cases involved the anterior hypothalamus. Anatomically, the lesions involved mammillary body, arcuate and periventricular nuclei. On histopathology, 52% cases revealed nodular arrangement of small neurocytic cells separated by glial stroma. TTF-1 and AVP immunoreactivity was absent in all the cases, whereas in normal hypothalamus, AVP was expressed in periventricular nuclei.Conclusion: Our results suggest that immunoexpression of TTF-1 is absent in HH, particularly in those arising from the posterior hypothalamus, and this can be used in small biopsies to distinguish from a normal hypothalamus as well as from posterior pituitary tumors.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":"41 1","pages":"18-24"},"PeriodicalIF":1.1,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39244358","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

Amelanotic melanocytoma of the cervicomedullary junction. 颈髓交界处无色素黑素细胞瘤。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2022-01-01 DOI: 10.5414/NP301411

Bradley Chaharyn, Stephen Yip, John A Maguire

引用次数: 0

Clinical Neuropathology 1-2022. 临床神经病理学1-2022。

IF 1.1 4区医学

Clinical Neuropathology Pub Date : 2021-12-07 DOI: 10.5414/NPP41001

I. Fischer, J. Hainfellner

引用次数: 0

Fatal toxic leukoencephalopathy and bilateral basal ganglia necrosis associated with inhaled heroin and cocaine use: A case report. 致死性中毒性脑白质病和双侧基底神经节坏死与吸入海洛因和可卡因有关:1例报告。