• 文章类型: English Abstract
    Prurigo pigmentosa is an inflammatory dermatosis that rarely occurs in Europe and mostly affects young women. Here, we describe the typical clinical and dermoscopic criteria so that therapy can be initiated as early as possible. The 17-year-old patient presented here shows that this disease can also be observed in Western Europe and in men, and that doxycycline is a very effective treatment option.
    UNASSIGNED: Die Prurigo pigmentosa ist eine in Europa wenig verbreitete entzündliche Dermatose, an der meist junge Frauen leiden. Wir beschreiben hier die typischen klinischen und dermatoskopischen Kriterien, damit frühestmöglich eine Therapie eingeleitet werden kann. Der hier vorgestellte 17-jährige Patient zeigt, dass diese Erkrankung auch in Westeuropa und bei Männern beobachtet werden kann und Doxycyclin eine sehr wirksame Therapieoption darstellt.
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  • 文章类型: Case Reports
    黑色素瘤是第九最普遍和第二最致命的肿瘤。病因和发病机制仍不确定。它发生在老年人身上,在第五个十年里,在男性中占主导地位。临床上,它们表现为无症状的黄斑或结节状生长。预后受肿瘤大小和远处转移的影响。远处转移患者的5年生存率低于30%,构成转移是黑色素瘤相关死亡的主要原因。目前,由于无法手术的状态,转移性黑色素瘤的主要治疗方法是免疫疗法,肿瘤的放射抗性性质和化疗中细胞毒性的高机会。一个老年男性病人,他被诊断出患有口腔恶性黑色素瘤的上颌颊部牙龈,并向肝脏和前列腺远处转移,在这里报告。尽管向肝脏转移在恶性黑色素瘤中很常见,在这种情况下,转移到前列腺突出的稀有性。
    UNASSIGNED: Melanoma is the ninth most prevalent and the second most lethal tumour. The aetiology and pathogenesis remain uncertain. It occurs in elderly people, over the fifth decade, and is predominant in males. Clinically, they present as an asymptomatic macular or nodular growth. The prognosis is impacted by the size of the tumour and distant metastases. Patients with distant metastases have a 5-year survival rate of less than 30%, constituting metastasis as the major cause of melanoma-related fatality. Currently, the mainstay of treatment for metastatic melanoma is immunotherapy due to the inoperable state, radioresistant nature of the tumour and high chances of cytotoxicity in chemotherapy. A senile male patient, who was diagnosed with oral malignant melanoma of the maxillary buccopalatal gingiva with distant metastasis to the liver and the prostate, is reported here. Although metastasis to the liver is common among malignant melanomas, in this case metastasis to the prostate gland highlights the rarity.
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  • 文章类型: Case Reports
    浆液性囊性肿瘤是一种罕见的实体,具有良性病程。其成像特点,例如存在多个囊肿,有或没有结节状增强,可以模拟胰腺的其他囊性或实性病变。在计算机断层扫描(CT)或磁共振成像(MRI)上识别具有点状钙化的增强疤痕可能是提示这种诊断的独特发现。胰腺的神经内分泌肿瘤是不同的并且也是罕见的实体。在图像中,他们有早期动脉增强。在核磁共振中,它们在T2上是高强度的,在T1上是低强度的,具有强烈的对比度增强。介绍了一例胰腺有两个局灶性病变的患者,以及整合临床表现的重要性,诊断图像中的符号学,如果适用,说明了胰腺肿瘤最佳管理的组织病理学结果,强调放射科医师在这一过程中的关键作用。
    A serous cystic tumor is a rare entity that has a benign course. Its imaging characteristics, such as the presence of multiple cysts with or without nodular enhancement, can simulate other cystic or solid lesions of the pancreas. Identification of the enhancing scar with punctate calcifications on computed tomography (CT) or magnetic resonance imaging (MRI) may be a distinctive finding suggesting this diagnosis. Neuroendocrine tumors of the pancreas are a different and also rare entity. In images, they have early arterial enhancement. In MRI, they are hyperintense on T2 and hypointense on T1, with avid contrast enhancement. A case of a patient with two focal lesions in the pancreas is presented and the importance of integrating clinical findings, semiology in diagnostic images and, if applicable, the histopathological result for the optimal management of pancreatic tumors is illustrated, highlighting the crucial role of a radiologist in this process.
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  • 文章类型: Case Reports
    放射性核素探针靶向前列腺特异性膜抗原(PSMA)用于前列腺癌(PCa)的诊断和治疗。最近的研究表明,PSMA在肿瘤新生血管内皮细胞中表达,例如在肝脏恶性肿瘤中。我们报告了一例使用18F-PSMA-1007和18F-氟脱氧葡萄糖(FDG)正电子发射形貌(PET)/MRI.18F-PSMA-1007PET/MRI检测的偶发性肝内胆管癌(ICC)的PCa病例,我们的PCa患者有一个肝脏病变有较高的PSMA摄取。18F-FDGPET/MRI显示肝脏病变中FDG摄取最少。组织病理学检查显示肝脏病变为中度至低分化胆管癌。我们的研究,和其他人一起,证明了肝脏恶性肿瘤,比如ICC,肝细胞癌(HCC),合并肝细胞胆管癌(CHC),良性病变,如良性肝血管瘤,局灶性结节增生,局灶性炎症和脂肪变性,血管畸形,和脂肪的节省,显示PSMA摄取升高。此外,PSMA-PET在检测ICC和HCC方面优于FDG-PET,这表明PSMA-PET可用作替代分期,并可用于确定PSMA靶向治疗的患者。
    Radionuclide probes-targeted prostate-specific membrane antigen (PSMA) is used in diagnosis and treatment of prostate cancer (PCa). Recent studies have shown that PSMA is expressed in the tumor neovascular endothelium, such as in malignant liver tumors. We report a case of PCa with incidental intrahepatic cholangiocarcinoma (ICC) detection using 18F-PSMA-1007 and 18F-fluorodeoxyglucose (FDG) positron emission topography (PET)/MRI.18F-PSMA-1007 PET/MRI of our patient with PCa showed that one liver lesion had high PSMA uptake. 18F-FDG PET/MRI revealed minimal FDG uptake in the liver lesion. Histopathological examination revealed that the liver lesion was moderately to poorly differentiated cholangiocarcinoma. Our studies, along with others, demonstrated that malignant liver tumors, such as ICC, hepatocellular carcinoma (HCC), and combined hepatocellular-cholangiocarcinoma (CHC), and benign lesions, such as benign liver hemangioma, focal nodular hyperplasia, focal inflammation and steatosis, vascular malformation, and fatty sparing, exhibited elevated PSMA uptake. Moreover, PSMA-PET was superior to FDG-PET in detecting ICC and HCC, indicating that PSMA-PET may be used as alternative staging and to identify patients for PSMA-targeted therapy.
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  • 文章类型: Case Reports
    甲状腺样滤泡性肾细胞癌(TLFRCC),也称为甲状腺样滤泡状癌或甲状腺滤泡状癌,是一种非常罕见的肾细胞癌变体,最近才被承认。这种肿瘤表现出与甲状腺相似的独特滤泡形态。免疫组织化学分析显示PAX8,波形蛋白,和EMA,而甲状腺特异性标志物TG和TTF1始终不存在。此外,在临床评估中,明显没有并发甲状腺病理.以前的报道表明,TLFRCC是一种惰性物质,生长缓慢的恶性肿瘤,具有罕见的转移潜力。在这份报告中,我们介绍了一个以显著骨化和广泛转移为特征的TLFRCC病例,包括多灶性肺部病变,腹壁受累,渗入腰大肌.据我们所知,这只是甲状腺滤泡性肾癌远处转移的第三例。目前的病例证明了一种将放疗与托里帕利马结合的治疗方法,程序性细胞死亡1(PD-1)受体抑制剂,还有帕唑帕尼.这种治疗方案是根据全面的基因组图谱定制的,鉴定了POLE(DNA聚合酶epsilon的催化亚基)和ATM(共济失调-毛细血管扩张症突变)基因的突变,两者都与各种恶性肿瘤的发病机理有关。这些发现代表了一个新的发现,这样的突变从未报道过与TLFRCC相关。到目前为止,这种治疗方法已被证明是治疗转移性TLFRCC最有效的选择,这也标志着首次提到放射治疗在治疗这种特殊亚型肾细胞癌方面的潜在益处。
    Thyroid-like follicular renal cell carcinoma (TLFRCC), also known as thyroid-like follicular carcinoma of the kidney or thyroid follicular carcinoma like renal tumor, is an exceedingly rare variant of renal cell carcinoma that has only recently been acknowledged. This neoplasm exhibits a distinct follicular morphology resembling that of the thyroid gland. Immunohistochemical analysis reveals positive expression of PAX8, Vimentin, and EMA, while thyroid-specific markers TG and TTF1 are consistently absent. Furthermore, there is a notable absence of any concurrent thyroid pathology on clinical evaluation. Previous reports have suggested that TLFRCC is an indolent, slow-growing malignancy with infrequent metastatic potential. In this report, we present a case of TLFRCC characterized by remarkable ossification and widespread metastasis, including multifocal pulmonary lesions, involvement of the abdominal wall, and infiltration into the psoas muscle. To our knowledge, this represents only the third documented instance of distant metastasis in thyroid follicular renal carcinoma. The current case demonstrates a therapeutic approach that combines radiotherapy with the utilization of toripalimab, a programmed cell death 1 (PD-1) receptor inhibitor, and pazopanib. This treatment regimen was tailored based on comprehensive genomic profiling, which identified mutations in the POLE (catalytic subunit of DNA polymerase epsilon) and ATM (ataxia-telangiectasia mutated) genes, both of which have been implicated in the pathogenesis of various malignant tumors. These findings represent a novel discovery, as such mutations have never been reported in association with TLFRCC. Thus far, this therapeutic approach has proven to be the most efficacious option for treating metastatic TLFRCC among previously reported, and it also marks the first mention of the potential benefits of radiotherapy in managing this particular subtype of renal cell carcinoma.
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  • 文章类型: Case Reports
    低钠血症是一种常见的电解质异常。
    我们报告了一例低钠血症患者,诊断为转移到下丘脑和垂体的小细胞肺癌。
    一名68岁男性患者因发热、咳嗽和肺炎入院。血清钠水平为113mmol/L考虑ADH不当综合征(SIADH)。甲状腺功能检查和皮质醇水平指出了两个轴的中枢缺陷。进行垂体MRI检查,观察下丘脑和垂体肿块。开始泼尼松龙治疗,然后进行L甲状腺素替代。2周后进行胸部计算机断层扫描(CT),发现肿块病变。进行支气管镜活检,组织病理学诊断为小细胞肺癌。
    许多机制被认为是我们患者低钠血症的原因。SIADH,继发性肾上腺功能不全和垂体转移引起的继发性甲状腺功能减退是可能的原因。
    低钠血症的原因有时很复杂。当低钠血症的根本原因没有详细评估时,许多诊断可能会错过。
    UNASSIGNED: Hyponatremia is a common electrolyte abnormality.
    UNASSIGNED: We report a patient who presented with hyponatremia and diagnosed as small cell lung cancer metastatic to hypothalamus and pituitary.
    UNASSIGNED: A 68 year old male patient was admitted with fever and cough and pneumonia was considered. Serum sodium level was 113 mmol/L. Syndrome of inappropriate ADH (SIADH) is considered. Thyroid function tests and cortisol levels pointed out a central deficiency in both axes. Pituitary MRI was performed and a hypothalamic and pituitary mass were observed. Prednisolone therapy was started followed by L thyroxine replacement. A chest computer tomography (CT) was taken 2 weeks later revealed a mass lesion. Bronchoscopic biopsy was performed and histopathological diagnosis of the tumor was reported as small cell lung cancer.
    UNASSIGNED: Many mechanisms were considered as the cause of hyponatremia in our patient. SIADH, secondary adrenal insufficiency and secondary hypothyroidism due to pituitary metastasis are possible causes.
    UNASSIGNED: The reason of hyponatremia is sometimes complex. When the underlying causes of hyponatremia are not evaluated in detail, many diagnoses can be missed.
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  • 文章类型: Case Reports
    碰撞病变是罕见的肿瘤,其中两个组织学上不同的肿瘤共存于同一器官或解剖部位。椎体血管瘤(VHs)是最常见的病变,涉及椎体和典型和非典型血管瘤的影像学表现,血管瘤的变体形式如侵袭性血管瘤是众所周知的,但是涉及VHs的碰撞病变极为罕见。本文介绍了一例73岁的男性患者的病例报告,该患者被诊断为透明细胞肾癌,罕见地出现骨转移,其解剖位置与VH(碰撞病变)相同。这需要涉及各种诊断技术的多学科方法来确定最佳治疗管理。
    Collisions lesions are rare neoplasms where two histologically distinct tumors coexist in the same organ or anatomical site. Vertebral hemangiomas (VHs) are the most common lesions involving the vertebral bodies and imaging findings of typical and atypical hemangiomas, variant forms of hemangioma such as aggressive hemangiomas are well known, but collision lesions involving VHs are extremely rare. This article presents a case report of a 73-year-old male patient diagnosed with clear cell renal cancer in a rare presentation of a bone metastasis coinciding with the same anatomical position as a VH (collision lesion). This required a multidisciplinary approach involving various diagnostic techniques to determine the best therapeutic management.
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  • 文章类型: Journal Article
    常见可变免疫缺陷(CVID)是成人中最常见的症状性免疫缺陷。它包括一组病因涉及遗传的综合征,表观遗传,微生物群,和环境因素。我们介绍了一名46岁的高加索男性患者的CVID和免疫失调表型。案件的特殊因素包括非典型的临床过程,这无疑证明了这些类型的患者可能遭受的临床表现的巨大变异性,包括细菌和病毒感染,自身免疫现象,和瘤形成。值得注意的是,患者反复出现胃肠道感染,伴有大环内酯耐药的空肠弯曲杆菌,以及胃十二指肠疾病和巨细胞病毒(CMV)引起的病毒血症.此外,CMV被认为是促进早发性肠型胃腺癌发展的主要致癌因素,患者接受了胃切除术。病人的进化是困难的,但最后,作为多学科方法的结果,实现了临床稳定和生活质量改善.根据我们简短的文献综述,这是该临床复杂性的首例报道.我们的经验可以帮助管理未来的CVID患者,也可能更新当前的CVID流行病学数据。
    Common variable immunodeficiency (CVID) is the most common symptomatic immunodeficiency in adults. It comprises a group of syndromes whose etiology involves genetic, epigenetic, microbiota, and environmental factors. We present the case of a 46-year-old Caucasian male patient with CVID and an immune dysregulation phenotype. The particular elements of the case consisted of an atypical clinical course, which undoubtedly demonstrates the great variability of clinical manifestations that these types of patients can suffer from, including bacterial and viral infections, autoimmune phenomena, and neoplasia. Notably, the patient suffered from recurrent gastrointestinal infection with macrolide-resistant Campylobacter jejuni and gastroduodenal disease and viraemia by cytomegalovirus (CMV). In addition, CMV was postulated as the main pro-oncogenic factor contributing to the development of early-onset intestinal-type gastric adenocarcinoma, for which the patient underwent gastrectomy. The patient\'s evolution was difficult, but finally, as a result of the multidisciplinary approach, clinical stabilization and improvement in his quality of life were achieved. Based on our brief literature review, this is the first reported case of this clinical complexity. Our experience could help with the management of future patients with CVID and may also update current epidemiological data on CVID.
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  • 文章类型: Journal Article
    背景:停止放疗在科学文献中很少讨论。这项研究的目的是,因此,评估接受放射疗法治疗的实体肿瘤脑转移患者停药的频率和原因,并确定预测停药的因素。方法:回顾性分析2010年至2020年在我院接受治疗的所有实体肿瘤脑转移患者。除了收集相关患者特征外,对每位患者的递归分区分析(RPA)和疾病特异性分级预后评估(GPA)组进行了计算,以评估这些评分在预测治疗中断方面的表现.结果:在468例接受头颅放疗的患者中,35次治疗(7.5%)停止。最常见的原因是临床恶化,在26例(74.3%)中断治疗中记录了这一点。停止放疗的患者,平均而言,更多的软脑膜疾病(20.0%vs.12.6%),更差的ECOG绩效状态(平均ECOG绩效状态1.86与1.39),和更多不受控制的颅外转移(85.3%vs.70.8%)。治疗中断的频率随着预后的恶化而增加,并且在RPA组之间存在显着差异(p=0.037),而在GPA组之间则没有差异(p=0.612)。结论:治疗中断发生在7.5%的病例中,主要是由于临床恶化。性能状态差,以及更晚期的疾病,反过来,预后不良,与更高的停药率相关。
    Background: Discontinuation of radiotherapy is rarely discussed in the scientific literature. The goal of this study was, therefore, to estimate the frequency of and reasons for treatment discontinuations in patients receiving radiotherapy for brain metastases from solid tumors and to identify factors predicting said discontinuations. Methods: All patients treated for brain metastases from solid tumors between 2010 and 2020 at our institution were retrospectively reviewed. In addition to collecting relevant patient characteristics, the Recursive Partitioning Analysis (RPA) and disease-specific Graded Prognostic Assessment (GPA) groups for each patient were calculated to assess the performance of these scores in predicting treatment discontinuations. Results: Out of 468 patients who underwent cranial radiotherapy, 35 treatments (7.5%) were discontinued. The most frequent reason was clinical deterioration, which was documented in 26 (74.3%) of discontinued treatments. Patients whose radiotherapy was discontinued had, on average, more leptomeningeal disease (20.0% vs. 12.6%), worse ECOG performance status (mean ECOG performance status 1.86 vs. 1.39), and more uncontrolled extracranial metastases (85.3% vs. 70.8%). The frequencies of treatment discontinuation increased with worse prognosis and differed significantly across RPA groups (p = 0.037) but not across GPA groups (p = 0.612). Conclusions: Treatment discontinuation occurred in 7.5% of cases, mostly due to clinical deterioration. Poor performance status, as well as more advanced disease and, in turn, poor prognosis, were associated with higher discontinuation rates.
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  • 文章类型: Case Reports
    早发性结直肠癌(EOCRC),定义为50岁以下个体的结直肠癌,已经显示出全球发病率的惊人增长。我们报告了一例24岁的女性,具有强烈的结直肠癌(CRC)家族史,但没有确定的潜在遗传易感性综合征。初次手术和辅助化疗后两年,病人出现了新的肝脏病变。进行了广泛的诊断成像以调查可疑的肝转移,最终导致局灶性结节增生的诊断。患者的年轻年龄促进了全面的基因组和转录组学分析,以识别潜在的致癌驱动因素并为患者的进一步临床管理提供信息。除了在患者的肿瘤样本中发现的许多致癌突变,包括KRASG12D,TP53R248W和TTNL28470V,我们还发现8号染色体上有一个24.5MB的纯合缺失.与TCGACOADREAD数据库相比,该患者突变谱的多变量Cox回归分析预后良好。值得注意的是,8号染色体上确定的缺失包括WRN基因,这可能有助于患者对化疗的总体阳性反应。复杂的临床表现,包括需要紧急手术,诊断时年龄较早,强烈的家族史,以及监视成像的意外发现,需要一种涉及医学的多学科方法,辐射,和外科肿瘤学家,以及心理支持和生殖医学专家。肿瘤的分子谱分析强烈表明,具有复杂突变谱和罕见基因组重排的患者需要长期监测和个性化知情干预。
    Early-onset colorectal cancer (EOCRC), defined as colorectal cancer in individuals under 50 years of age, has shown an alarming increase in incidence worldwide. We report a case of a twenty-four-year-old female with a strong family history of colorectal cancer (CRC) but without an identified underlying genetic predisposition syndrome. Two years after primary surgery and adjuvant chemotherapy, the patient developed new liver lesions. Extensive diagnostic imaging was conducted to investigate suspected liver metastases, ultimately leading to a diagnosis of focal nodular hyperplasia. The young age of the patient has prompted comprehensive genomic and transcriptomic profiling in order to identify potential oncogenic drivers and inform further clinical management of the patient. Besides a number of oncogenic mutations identified in the patient\'s tumour sample, including KRAS G12D, TP53 R248W and TTN L28470V, we have also identified a homozygous deletion of 24.5 MB on chromosome 8. A multivariate Cox regression analysis of this patient\'s mutation profile conferred a favourable prognosis when compared with the TCGA COADREAD database. Notably, the identified deletion on chromosome 8 includes the WRN gene, which could contribute to the patient\'s overall positive response to chemotherapy. The complex clinical presentation, including the need for emergency surgery, early age at diagnosis, strong family history, and unexpected findings on surveillance imaging, necessitated a multidisciplinary approach involving medical, radiation, and surgical oncologists, along with psychological support and reproductive medicine specialists. Molecular profiling of the tumour strongly indicates that patients with complex mutational profile and rare genomic rearrangements require a prolonged surveillance and personalised informed interventions.
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