合并甲状腺癌的多原发性癌的临床及病理特征分析

目的:分析合并甲状腺癌的多原发性癌患者的临床及病理特征。方法:回顾性分析2007年10月至2017年3月云南省肿瘤医院确诊的4 861例甲状腺癌患者,从中筛选出290例(5.97%)合并其他恶性肿瘤的多原发癌患者,分析其临床及病理特征。结果:筛选出290例甲状腺癌患者,其中7例(2.4%)为三原发性恶性肿瘤,283例(97.6%)为双原发性恶性肿瘤。以肿瘤发生时间分类:83例(28.6%)为同时性多原发性癌,207例(71.4%)为异时性多原发性癌。248例(85.5%)患者以其他恶性肿瘤为首发,甲状腺癌为后发现。本研究以女性256例(88.3%)、年龄≥45岁191例(65.9%)、甲状腺乳头状癌281例(96.9%)多见。甲状腺癌最常合并的原发癌是乳腺癌44.5%(129/290),其次是宫颈癌、肺癌、结直肠癌等。结论:年龄≥45岁女性恶性肿瘤患者,尤其是乳腺癌患者,在随访复查过程中建议进行甲状腺癌筛查。

肿瘤相关巨噬细胞在甲状腺乳头状癌中的分布及临床意义的初探

目的:初步探讨肿瘤相关巨噬细胞(tumor-associated macrophages,TAMs)及M2型TAMs与甲状腺乳头状癌(papillary thyroid carcinoma,PTC)临床病理特征的关系。方法:选取2010年1月至2017年12月云南省肿瘤医院昆明医科大学第三附属医院就诊的68例患者的临床资料,其中甲状腺癌51例(PTC 42例,甲状腺鳞状细胞癌9例),甲状腺良性病变17例。免疫组织化学法检测术后病理组织中TAMs和M2型TAMs的分布情况,并分析其与患者临床病理特征的关系。结果:甲状腺癌组织中CD68^(+)TAMs、CD206^(+)TAMs和CD68^(+)/CD206^(+)TAMs的分布强度均高于甲状腺良性病变(P<0.05)。在PTC组织内存在CD68−/CD206^(+)TAMs形式的分布。42例PTC中,有淋巴结转移组及肿瘤大小≥2 cm组中CD68^(+)TAMs和CD68^(+)/CD206^(+)TAMs的分布强度高于无淋巴结转移组和肿瘤大小<2 cm组(P<0.05)。在PTC大小<2 cm及Ⅰ期或Ⅱ期的情况下,CD206^(+)TAMs分布强度高于CD68^(+)TAMs(均P<0.001)。PTC组织中CD206^(+)TAMs分布强度与CD68^(+)TAMs分布强度呈正相关(P<0.05)。在PTC患者的T3、TgAb、FT3及FT4正常组与异常组之间CD68^(+)TAMs的分布差异具有统计学意义(P<0.05);CD68^(+)/CD206^(+)TAMs的分布分别在PTC患者的T3、FT3及FT4正常组与异常组之间差异具有统计学意义(P<0.05)。结论:TAMs、M2型TAMs对PTC的发生具有一定促进作用,TAMs促进PTC颈部淋巴结转移、肿瘤的生长及影响甲状腺激素水平的调节;在PTC微环境中未发现M2型TAMs从属于TAMs的关系,而在PTC早期微环境中主要是以M2型TAMs为主。

Clinical phenotype features and genetic etiologies of 38 children with progressive myoclonic epilepsy

Background:Progressive myoclonic epilepsy(PME)is a group of neurodegenerative diseases with genetic heterogeneity and phenotypic similarities,and many cases remain unknown of the genetic causes.This study is aim to summarize the clinical features and study the genetic causes of PME patients.Methods:Sanger sequencing of the target gene,Next Generation Sequencing(NGS)panels of epilepsy,trio-based Whole Exome Sequencing(WES)and detection of cytosine-adenine-guanine(CAG)repeat number were used to investigate the genetic causes of PME patients.Results:Thirty-eight children with PME whose seizure onset age ranged from 3 months to 12 years were collected from February 2012 to November 2019 in three hospitals in Beijing,China.The seizure types included myoclonic seizures(n=38),focal seizures(n=19),generalized tonic-clonie seizure(GTCS)(n=13),absence seizures(n=4),atonic seizures(n=3),epileptic spasms(n=2)and tonic seizures(n=1).Twenty-seven cases were sporadic and 11 had family members affected.Established PME-related genes were identified in 30 out of 38(78.9%)patients who had either recessively inherited or de novo heterozygous mutations.Among these 30 cases,there were 12 cases(31.6%)of neuronal ceroid lipofuscinoses(the causing gene contains TPP1,PPT1,CLN5,CLN6 and MFSD8),two cases of sialidosis(the causing gene is NEU1),two cases of neuronopathic Gaucher disease(the causing gene is GBA),one case of spinal muscular atrophy-progressive myoclonic epilepsy(the causing gene is ASAH1),four cases of KCNC1 mutation-related PME,four cases of KCTD7 mutation-related PME,two cases of TBC1D24 mutation-related PME,one case of GOSR2 related PME,and two of dentatorubral-pallidoluysian atrophy(the causing gene is ATN1).In total,13 PME genes were identified in our cohort.The etiology was not clear in eight patients.Conclusion:PME is a group of clinically and genetically heterogeneous diseases.Genetic diagnosis was clear in 78.9%of PME patients.Various of genetic testing methods could increase the rate of genetic diagnosis.Neuronal ceroid lipofuscinoses(NCL)is the most common etiology of PME in children.Nearly one third PME children were diagnosed with NCL.GOSR2 related PME was in our cohort in Asia for the first time.

Expert consensus on clinical applications of high-frequency oscillations in epilepsy

Studies in animal models of epilepsy and pre-surgical patients have unanimously found a strong correlation between high-frequency oscillations(HFOs,>80 Hz)and the epileptogenic zone,suggesting that HFOs can be a potential biomarker of epileptogenicity and epileptogenesis.This consensus includes the definition and standard detection techniques of HFOs,the localizing value of pathological HFOs for epileptic foci,and different ways to distinguish physiological from epileptic HFOs.The latest clinical applications of HFOs in epilepsy and the related findings are also discussed.HFOs will advance our understanding of the pathophysiology of epilepsy.

A case of Landau-Kleffner syndrome with SLC26A4-related hearing impairment

Background:Landau-Kleffner syndrome(LKS)is an acquired aphasia and electroencephalogram(EEG)abnormalities mainly in temporoparietal areas.SLC26A4 mutations can cause hearing loss associated with enlarged vestibular aqueduct(EVA).Case presentations:We report a case of LKS in a 5-year-old boy with non-syndromic EVA due to homozygous mutations of c.919-2A>G(IVS7-2A>G)in SLC26A4.He had normal language development before 2 years old.At the age of 2.5 years,he was admitted to the hospital due to remarkable language delay,and diagnosed with hearing loss with EVA.The seizures started at 4.4 years of age and EEG recording showed electrical status epilepticus during sleep(ESES)with a posterior-temporal predominance.He received cochlear implantation in the right ear at 4.7 years of age,which improved his hearing and language skills.The nocturnal focal motor seizures recurred at 4.9 years of age.Then a remarkable inability to respond to calls and reduction in spontaneous speech were noticed.He was treated with methylprednisolone at 5 years old,which controlled the seizures,suppressed ESES,and remarkably improved the language ability.The absence of seizures maintained until the last follow-up at 5.3 years of age,with further improvements in EEG recording and language ability.Conclusions:The co-existence of LKS and hearing loss caused by SLC26A4 mutations increases the difficulty of LKS diagnosis,especially in the presence of hearing loss and impaired language skills.EEG discharges predominantly in temporoparietal areas,the occurrence of ESES,and language improvement after antiepileptic medications are potential indicators for LKS diagnosis.