Rhabdomyosarcoma

横纹肌肉瘤
  • 文章类型: Case Reports
    背景:脑膜旁横纹肌肉瘤(PM-RMS)是一种罕见且侵袭性的软组织恶性肿瘤,主要发生在头颈部。RMS的标准治疗方法包括多模式治疗方案,其中包括手术,化疗,和放射治疗。然而,在头颈部区域RMS的年轻患者中常规使用放疗和化疗可导致对牙齿发育的不利影响,在规划牙科干预方面构成了挑战。
    方法:本病例报告概述了一名13岁儿童的牙齿和面部发育后果,他们在7岁时接受了化学放射治疗介入治疗,以治疗PM-RMS。治疗后,这个孩子表现出明显的牙齿并发症,包括根部生长停滞和张口受限。
    结论:这个案例突出了肿瘤学家之间跨学科合作的必要性,牙医,和其他医疗保健专业人员,以减轻对接受横纹肌肉瘤化疗放疗的患者的牙齿健康和整体生活质量的不利影响。
    BACKGROUND: Parameningeal rhabdomyosarcoma (PM-RMS) is a rare and aggressive soft tissue malignancy that primarily occurs in the head and neck region. The standard treatment approach for RMS involves a multimodal therapy regimen, which includes surgery, chemotherapy, and radiotherapy. However, the routine use of radiotherapy and chemotherapy in young patients with RMS in the head and neck region can lead to adverse effects on dental development and thereby, pose a challenge in planning dental intervention.
    METHODS: This case report outlines the dental and facial developmental consequences in a 13-year-old child, who received chemo-radiotherapeutic intervention at the age of 7 years for the management of PM-RMS. Following treatment, the child exhibited significant dental complications, including arrested root growth and restricted mouth opening.
    CONCLUSIONS: This case highlights the necessity for interdisciplinary collaboration between oncologists, dentists, and other healthcare professionals to mitigate the adverse effects on dental health and overall quality of life in patients undergoing chemo-radiotherapy for rhabdomyosarcoma.
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  • 文章类型: Case Reports
    成人前列腺的胚胎性横纹肌肉瘤很少见,通常在晚期被诊断出来。转移。我们报告了一个23岁的年轻成年人,表现为下腰痛和排尿困难,其成像显示大量转移性前列腺肿块。活检证实胚胎性横纹肌肉瘤。从化疗开始治疗,导致3个疗程后肿瘤质量和转移的显着消退。儿科进展表明,多模式方法可改善生存率,但其在成人中的疗效需要进一步研究。
    Embryonal rhabdomyosarcoma of the prostate in adults is rare and often diagnosed at an advanced stage, with metastases. We report the case of a 23-year-old young adult presenting with low back pain and dysuria, whose imaging revealed a voluminous metastatic prostate mass. Biopsy confirmed embryonal rhabdomyosarcoma. Treatment was initiated with chemotherapy, resulting in significant regression of the tumour mass and metastases after 3 courses. Pediatric advances suggest improved survival with a multimodal approach, but its efficacy in adults requires further investigation.
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  • 文章类型: Case Reports
    膀胱横纹肌肉瘤是一种罕见的肿瘤性疾病,其特征是由于缺乏标准化指南和大规模临床研究,在治疗方面存在挑战。在这种情况下,患者被测试TP53突变,其可以提供新的诊断和治疗选择。
    这里,我们报道了一名34岁的男性,他接受了膀胱肿瘤切除术,病理检查后诊断为膀胱横纹肌肉瘤,TP53突变。该患者接受了6轮化疗。然而,第一次手术后11个月盆腔肿瘤复发。所以,患者接受盆腔肿瘤切除术。手术干预后仅3个月,该患者经历了腹部大量转移,并最终在第二次手术后六个月死于疾病。病程为22个月。
    膀胱横纹肌肉瘤是一种预后极差的疾病。基因检测在诊断和治疗中具有重要价值。也许针对TP53的靶向治疗对于此类罕见疾病具有潜在的价值。
    UNASSIGNED: Rhabdomyosarcoma of the bladder is an infrequent neoplastic condition characterized by a pronounced malignant situation with challenges in treatment due to the lack of standardized guidelines and large-scale of clinical studies. The patient in this case is tested TP53 mutation that may provide new diagnostic and therapeutic options.
    UNASSIGNED: Here, we reported a 34-year-old male who received bladder tumor resection, and diagnosed as bladder rhabdomyosarcoma with TP53 mutation after the pathology test. This patient underwent 6 rounds of chemotherapy. However, the pelvic tumor recurred 11 months after the first surgery. So, the patient accepted the pelvic tumor resection. Only 3 months after the surgical intervention, the patient underwent abdominal massive metastasis and ultimately succumbed to the illness six months following the second surgery. The course of the illness was 22 months.
    UNASSIGNED: Bladder rhabdomyosarcoma is a disease with an extremely poor prognosis. Genetic testing holds significant value in the diagnosis and treatment. Perhaps targeted therapy against TP53 is potential valuable for such rare diseases.
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  • 文章类型: Journal Article
    儿科年龄组的恶性肿瘤是第二大死因,仅次于事故。儿科年龄组涉及头颈部的各种恶性肿瘤令人困惑。甲状腺横纹肌肉瘤是一种非常罕见的实体。我们介绍了一个青少年的病例,该青少年出现颈部肿块并迅速恶化。只有通过熟练的病理检查发现甲状腺横纹肌肉瘤,才有可能建立最终诊断。甲状腺中出现的肺泡横纹肌肉瘤极为罕见。据我们所知,到目前为止,只有两起上述案件被记录在案。通过这份报告,我们的目标是强调这种情况发生的可能性,并对治疗外科医生保持警惕,以便及时进行干预。
    Malignancies in paediatric age group are the second leading cause of death, next only to accidents. The variety of malignancies involving the head and neck region in paediatric age group is bewildering. Rhabdomyosarcoma of thyroid gland is one such entity very rarely seen. We present the case of an adolescent who presented with a neck mass and suffered rapid deterioration. Establishment of final diagnosis was possible only because of a skilfully performed pathological examination which revealed a thyroid gland rhabdomyosarcoma. An alveolar variety of rhabdomyosarcoma presenting in the thyroid gland is extremely rare. To the best of our knowledge, only two cases of the aforementioned are documented as yet. Through this report, we aim at highlighting the possibility of such an occurrence and vigilance on part of the treating surgeon so that timely intervention can be instituted.
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  • 文章类型: Case Reports
    放线菌病是一种罕见的传染病,其特征是缓慢进展,慢性化脓性病变,经常被误认为是恶性肿瘤,因为它有能力模仿它们。它是由放线菌引起的,它们是人类口咽正常菌群的一部分,胃肠,和泌尿生殖道.该病例报告描述了一名51岁的男性,有下颌横纹肌肉瘤病史,表现为严重的肩和髋部疼痛,吞咽困难,头痛,最初怀疑是癌症复发。然而,经过进一步调查,包括PET-CT和扁桃体切除术,通过组织病理学检查证实了放线菌病的诊断。该病例突出了放线菌病的诊断挑战,尤其是有复杂临床病史的患者,强调在类似的介绍中将其视为鉴别诊断的重要性。患者接受长期抗生素治疗,主要是β-内酰胺,证明了全面诊断方法的必要性以及延迟诊断的含义。该病例强调了医疗保健专业人员对放线菌病模仿更常见疾病的可能性的高度临床怀疑和认识的迫切需要。确保及时准确的治疗。
    Actinomycosis is a rare infectious disease characterized by slowly progressive, chronic suppurative lesions, often mistaken for malignancies due to its ability to mimic them. It is caused by Actinomyces bacteria, which are part of the normal flora of the human oropharynx, gastrointestinal, and urogenital tracts. This case report describes a 51-year-old male with a history of mandibular rhabdomyosarcoma presenting with severe shoulder and hip pain, dysphagia, and headaches, initially suspected to be a cancer recurrence. However, after further investigation, including a PET-CT and tonsillectomy, the diagnosis of actinomycosis was confirmed through histopathological examination. The case highlights the diagnostic challenges of actinomycosis, especially in patients with complex clinical histories, emphasizing the importance of considering it as a differential diagnosis in similar presentations. The patient was treated with long-term antibiotic therapy, predominantly beta-lactams, demonstrating the necessity of a comprehensive diagnostic approach and the implications of a delayed diagnosis. This case underscores the critical need for high clinical suspicion and awareness among healthcare professionals regarding the potential for actinomycosis to mimic more common diseases, ensuring timely and accurate treatment.
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  • 文章类型: Journal Article
    胃超声评估围手术期患者的胃内容物。一个10岁的腹部横纹肌肉瘤男孩,接受腹部辐射的人,发生胃轻瘫,并计划进行内镜下胃肠幽门扩张。即时胃超声显示胃窦横截面积为6.5cm2(估计胃含量约30mL)。然而,动态右向左超声显示胃底有更多的低回声物质。在诱导时,抽吸~125mL的胃内容物。在僵硬/固定的胃窦的设置中,胃窦测量可能无法准确预测胃内容物。从胃窦到眼底扫描更准确地测定内容,尤其是有腹部辐射史的.
    Gastric ultrasound estimates stomach contents in perioperative patients. A 10-year-old boy with abdominal rhabdomyosarcoma, who received abdominal radiation, developed gastroparesis and was scheduled for endoscopic gastrointestinal pyloric dilation. Point-of-care gastric ultrasound revealed gastric antral cross-sectional area of 6.5 cm2 (estimated gastric content ~30 mL). However, dynamic right-to-left ultrasound revealed more hypoechoic material in the fundus of the stomach. On induction ~125 mL of stomach contents was suctioned. Antral measurements may not accurately predict the stomach contents in the setting of a stiff/fixed antrum. Scanning from antrum to fundus determined contents more accurately, especially with a prior history of abdominal radiation.
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  • 文章类型: Case Reports
    背景:横纹肌肉瘤是侵袭性肿瘤,包括一组形态相似但生物学上不同的病变。由于它的稀有性,混合模式RMS(ARMS和ERMS)构成了诊断和治疗的困境。
    方法:本文介绍了一名68岁女性子宫内非常罕见的混合肺泡和胚胎性横纹肌肉瘤病例。子宫体和子宫颈的壁被多个发白的黄色取代,坚固的结节,测量到12厘米。微观上,肿瘤主要由圆形至多边形细胞组成,这些细胞排列成巢状,肺泡状混合有较原始细胞的低细胞和高细胞区域,也可见分散的多核巨细胞。大量采样未能显示上皮元素。免疫组织化学染色显示波形蛋白阳性染色,desmin,Myogenin,CD56和WT-1。然而,未检测到CK染色,LCA,CD10,ER,SMA,CD99、S100、Cyclin-D1和Olig-2。在腹膜中发现了转移性沉积物。患者接受术后化疗和放疗,但术后3个月死于全身转移。
    结论:这种组织学肿瘤实体的稀有性及其侵袭行为和不良预后引起了人们的注意,以改善成人的识别和治疗方式。
    BACKGROUND: Rhabdomyosarcomas are aggressive tumors that comprise a group of morphologically similar but biologically diverse lesions. Owing to its rarity, Mixed pattern RMS (ARMS and ERMS) constitutes a diagnostic and therapeutic dilemma.
    METHODS: Herein is presented a very rare case of mixed alveolar & embryonal rhabdomyosarcoma in the uterus of a 68-year-old woman. The wall of the uterine corpus & cervix was replaced by multiple whitish-yellow, firm nodules, measuring up to 12 cm. Microscopically, the tumor was predominantly composed of round to polygonal cells arranged in nests with alveolar pattern intermingled with hypo- & hypercellular areas of more primitive cells with scattered multinucleated giant cells seen as well. Extensive sampling failed to show epithelial elements. Immunohistochemical staining showed positive staining for vimentin, desmin, myogenin, CD56 & WT-1. However, no staining was detected for CK, LCA, CD10, ER, SMA, CD99, S100, Cyclin-D1 & Olig-2. Metastatic deposits were found in the peritoneum. The patient received postoperative chemotherapy and radiotherapy but died of systemic metastases 3 months after surgery.
    CONCLUSIONS: The rarity of this histological tumor entity and its aggressive behavior and poor prognosis grab attention to improving recognition and treatment modalities in adults.
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  • 文章类型: Case Reports
    横纹肌肉瘤是儿童常见的软组织肿瘤,但在成人中很少见。肺泡横纹肌肉瘤代表横纹肌肉瘤的亚型,在成年人中极为罕见,尤其是在鼻腔内.成人的治疗方案通常基于儿科病例中使用的方案。我们介绍了一个有乳腺癌病史的56岁女性患者的病例,该患者发展为鼻腔的肺泡横纹肌肉瘤,第三阶段,最初用化疗管理,导致部分反应。随后,患者接受同步放化疗.临床过程以18个月后局部缓解和转移性进展为标志。肺泡横纹肌肉瘤在成人中并不常见,其治疗管理仍不规范。然而,它通常是基于最初的化疗,然后是局部治疗。尽管治疗取得了进展,预后仍然很差。
    Rhabdomyosarcoma is a common soft tissue tumor in children but rare in adults. Alveolar rhabdomyosarcoma represents a subtype of rhabdomyosarcoma, extremely rare in adults, especially within the nasal cavities. Therapeutic protocols for adults are often based on those used in pediatric cases. We present the case of a 56-year-old female patient with a history of breast cancer who developed alveolar rhabdomyosarcoma of the nasal cavity, stage III, managed initially with chemotherapy resulting in partial response. Subsequently, the patient underwent concomitant chemoradiotherapy. The clinical course was marked by local remission with metastatic progression after 18 months. Alveolar rhabdomyosarcoma is uncommon in adults, and its therapeutic management remains non-standardized. However, it is typically based on initial chemotherapy followed by local treatment. Despite therapeutic advances, the prognosis remains poor.
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  • 文章类型: Journal Article
    背景:成人头颈部横纹肌肉瘤(HNRMS)非常罕见,对病理学家来说仍然具有挑战性。
    方法:从摩洛哥拉巴特专科医院病理科(HSR)的档案中检索了5例成人HNRMS(≥19岁),超过5年。对苏木精和伊红载玻片的临床和病理发现以及Desmin和Myogenin的免疫组织化学进行了综述。
    中位年龄为33岁,以男性为主(3米/2华氏度)。组织学分析显示3例肺泡横纹肌肉瘤(RMS),一个多态RMS,和一个梭形细胞/硬化RMS。除了在每个RMS中观察到的典型组织学之外,我们发现了棘手的生长模式,这可能是误诊的原因。所有5例病例均显示Desmin和Myogenin的可变阳性。
    结论:HNRMS病例与小儿RMS病例具有不同的病理特征。我们确定了罕见的亚型,如多形性和梭形细胞/硬化RMS,表现出不寻常的形态模式。
    BACKGROUND: Adult Head and neck Rhabdomyosarcomas (HNRMS) are exceedingly rare and remain challenging for pathologists.
    METHODS: Five cases of adult HNRMS (≥19 years) were retrieved from the archives of the Department of Pathology of Hospital of Specialities in Rabat (HSR) in Morocco, over 5 years. Clinical and pathologic findings from hematoxylin and eosin slides and immunohistochemistry for Desmin and Myogenin were reviewed.
    UNASSIGNED: The median age was 33, with a men\'s predominance (3 M/2F). Histological analysis revealed three cases of Alveolar Rhabdomyosarcoma (RMS), one Pleomorphic RMS, and one spindle cell/sclerosing RMS. In addition to the typical histology observed in each RMS, we found tricky growth patterns that could be a source of misdiagnosis. All five cases demonstrated variable positivity for Desmin and Myogenin.
    CONCLUSIONS: HNRMS cases have different pathological features than pediatric RMS cases. We identified rare subtypes such as pleomorphic and spindle cell/sclerotic RMS, which exhibit unusual morphological patterns.
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  • 文章类型: Letter
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