Parathyroid Carcinoma

甲状旁腺癌
  • 文章类型: Case Reports
    甲状旁腺癌(PC)在儿童和青少年中极为罕见。PC通常是零星的,但它也可能与种系突变有关。原发性甲状旁腺功能亢进症(PHPT)的临床特征在儿童和青少年中是非特异性的,这将诊断推迟了几年。这个儿科病人的PC病例,由CDC73基因外显子1的种系杂合致病变异引起(c.70G>T,p。Glu24Ter)是俄罗斯最早报道的。由于小儿甲状旁腺恶性肿瘤的罕见,这种内分泌肿瘤的诊断仍然是一个挑战.我们在患者的管理中面临的主要困难是诊断的形态学确认,多种手术干预措施,和播散的PC转移。我们描述了一个13岁的女孩,在几次手术后,延迟诊断为PC并随后局部复发,他们接受了允许控制高钙血症的特定放射治疗。
    Parathyroid carcinoma (PC) is extremely rare in children and adolescent. PC is more often sporadic, but also it could be associated with germline mutations. The clinical features of primary hyperparathyroidism (PHPT) are nonspecific in children and adolescent, which delays the diagnosis for years. This case of PC in a pediatric patient, caused by germline heterozygous pathogenic variant in exon 1 of the CDC73 gene (c.70 G > T, p. Glu24Ter) is the first to be reported in Russia. Due to the rarity of pediatric parathyroid malignancy, the diagnosis of this endocrine neoplasm remains a challenge. The main difficulties that we faced in the management of the patient were the morphological confirmation of diagnosis, multiple surgical interventions, and disseminated PC metastases. We describe a 13-year-old girl with delayed diagnosis of PC and subsequent local recurrence after several surgeries, who underwent specific radiation therapy that allowed controlling hypercalcemia.
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  • 文章类型: Case Reports
    双膦酸盐广泛用于许多代谢性骨病症。眼眶炎症是双膦酸盐治疗的非常罕见的副作用,可能有永久性视力丧失的风险。我们描述了一名79岁男子的复杂病例和成功治疗,该男子在静脉注射帕米膦酸二钠治疗严重的高钙血症后发展为眼眶蜂窝织炎。还讨论了甲状旁腺癌诊断的挑战。
    Bisphosphonates are widely used for a number of metabolic bone conditions. Orbital inflammation is a very rare side effect of bisphosphonate therapy that can risk permanent visual loss. We describe the complex case and successful treatment of a 79-year-old man who developed orbital cellulitis following the use of intravenous pamidronate disodium for severe hypercalcaemia. The challenges regarding the diagnosis of parathyroid carcinoma are also discussed.
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  • 文章类型: Journal Article
    这里,我们描述了1例患有转移性甲状旁腺癌的43岁男性患者,该患者接受了[18F]氟胆碱和氟脱氧葡萄糖([18F]FDG)双示踪剂全身正电子发射断层扫描/计算机断层扫描(PET/CT)分期.[18F]FDGPET/CT检测到颈部和纵隔淋巴结多发病变,示踪剂摄取增加,而[18F]氟胆碱PET/CT检测到宫颈和纵隔淋巴结病变以及骨和肺病变的示踪剂摄取增加,对转移扩散的评估更好。由于这些影像学发现,患者接受了全身化疗.此病例证明了双示踪剂PET/CT在这种罕见的转移性肿瘤中的附加价值。
    Here, we describe the case of a 43-year-old male patient with a metastatic parathyroid carcinoma who underwent dual-tracer whole-body positron emission tomography/computed tomography (PET/CT) with [18F]fluorocholine and fluorodeoxyglucose ([18F]FDG) for staging. [18F]FDG PET/CT detected multiple cervical and mediastinal lymph nodal lesions with increased tracer uptake, whereas [18F]fluorocholine PET/CT detected increased tracer uptake on cervical and mediastinal lymph nodal lesions and bone and lung lesions with a better evaluation of metastatic spread. Due to these imaging findings, the patient underwent systemic treatment with chemotherapy. This case demonstrates the added value of dual-tracer PET/CT in this rare metastatic tumor.
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  • 文章类型: Journal Article
    根据生化改变和临床表现怀疑甲状旁腺病理,成像在原发性甲状旁腺功能亢进中的主要作用是肿瘤在甲状旁腺内的定位,手术计划,并在复发性疾病的背景下寻找任何异位甲状旁腺组织。本文对甲状旁腺的胚胎学和解剖学变异及其临床相关性进行了全面的综述,甲状旁腺的外科解剖,多腺甲状旁腺疾病之间的区别,孤立性腺瘤,非典型甲状旁腺肿瘤,和甲状旁腺癌.角色,超声波的优点和局限性,四维计算机断层扫描(4DCT),放射性标记的tech-99(99mTc)sestamibi或双示踪剂99mTc高tech酸盐和99mTc-sestamibi,有或没有单光子发射计算机断层扫描(SPECT)或SPECT/CT,动态增强磁共振成像(4DMRI),本文广泛讨论了氟胆碱正电子发射断层扫描(18F-FCHPET)或[11C]蛋氨酸(11C-MET)PET在甲状旁腺病变的管理。本文还阐明了氟脱氧葡萄糖PET(FDG-PET)的作用。还描述了美国临床肿瘤学会(ASCO)提出的甲状旁腺癌的管理指南。最后提供了一种用于管理甲状旁腺病变的算法,可作为放射科医生的快速参考指南。临床医生和外科医生。
    Parathyroid pathologies are suspected based on the biochemical alterations and clinical manifestations, and the predominant roles of imaging in primary hyperparathyroidism are localisation of tumour within parathyroid glands, surgical planning, and to look for any ectopic parathyroid tissue in the setting of recurrent disease. This article provides a comprehensive review of embryology and anatomical variations of parathyroid glands and their clinical relevance, surgical anatomy of parathyroid glands, differentiation between multiglandular parathyroid disease, solitary adenoma, atypical parathyroid tumour, and parathyroid carcinoma. The roles, advantages and limitations of ultrasound, four-dimensional computed tomography (4DCT), radiolabelled technetium-99 (99mTc) sestamibi or dual tracer 99mTc pertechnetate and 99mTc-sestamibi with or without single photon emission computed tomography (SPECT) or SPECT/CT, dynamic enhanced magnetic resonance imaging (4DMRI), and fluoro-choline positron emission tomography (18F-FCH PET) or [11C] Methionine (11C -MET) PET in the management of parathyroid lesions have been extensively discussed in this article. The role of fluorodeoxyglucose PET (FDG-PET) has also been elucidated in this article. Management guidelines for parathyroid carcinoma proposed by the American Society of Clinical Oncology (ASCO) have also been described. An algorithm for management of parathyroid lesions has been provided at the end to serve as a quick reference guide for radiologists, clinicians and surgeons.
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  • 文章类型: Case Reports
    甲状旁腺癌(PC)极为罕见,主要通过手术治疗。化疗是晚期的一种选择,但没有标准治疗方案.新兴研究表明,多靶点酪氨酸激酶抑制剂(MTKIs)对PC的疗效,靶向血管内皮生长因子受体(VEGFR)和血小板衍生生长因子受体(PDGFR)。一名61岁的日本妇女颈部肿块,诊断为PC伴胸膜和腰椎转移。在甲状旁腺切除术和放射治疗腰椎转移后,免疫组织化学显示VEGFR过表达,导致MTKIs靶向治疗。尽管癌症基因组小组测试没有可行的突变,鉴定了一个新的MEN1体细胞突变(NM_130801:exon2:c.332delG:p.G111fs*8),这可能会影响VEGFR2的表达和肿瘤的表观遗传学。尽管严重的手足综合征需要减少剂量和中断治疗,索拉非尼治疗用evocalcet和denosumab治疗高钙血症。Lenvatinib,作为二线治疗,对胸膜转移有效,但引起血小板减少和血尿,导致停药和不受控制的复发和转移进展。我们的案例强调了进一步研究基因组图谱的必要性,分子靶标,和PC中的治疗反应。
    Parathyroid carcinoma (PC) is extremely rare and is primarily treated surgically. Chemotherapy is an option for advanced stages, but no standard regimen exists. Emerging research suggests the efficacy of multitarget tyrosine kinase inhibitors (MTKIs) for PC, targeting vascular endothelial growth factor receptor (VEGFR) and platelet-derived growth factor receptor (PDGFR). A 61-year-old Japanese woman presented with a neck mass, diagnosed as PC with pleural and lumbar metastases. After parathyroidectomy and radiation for lumbar metastasis, immunohistochemistry showed VEGFR overexpression, leading to targeted therapy with MTKIs. Despite no actionable mutations on cancer genomic panel test, a novel MEN1 somatic mutation (NM_130801: exon2: c.332delG: p.G111fs*8) was identified, which may affect VEGFR2 expression and tumor epigenetics. Although severe hand-foot syndrome necessitated dose reductions and treatment interruptions, sorafenib treatment managed hypercalcemia with evocalcet and denosumab. Lenvatinib, as second-line therapy, was effective against pleural metastases but caused thrombocytopenia and hematuria, leading to discontinuation and uncontrolled recurrence and metastasis progression. Our case highlights the need for further research on genomic profiling, molecular targets, and therapy response in PC.
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  • 文章类型: Case Reports
    背景:甲状旁腺癌(PC)是一种罕见的恶性肿瘤,常通过术后病理检查偶然诊断。结节性甲状腺肿的发生,甲状腺内甲状旁腺癌,对侧甲状旁腺腺瘤(PA),甲状腺乳头状微小癌(PTMC)极为罕见,这促使我们报告我们的案例经验。
    方法:我们描述了一位67岁的男性,他表现为颈部肿块导致气管压迫,这促使他寻求医疗建议。根据彩色多普勒超声的术前辅助检查结果,SPECT甲状旁腺显像,还有血液测试,他最初被诊断为疑似甲状旁腺腺瘤和结节性甲状腺肿。甲状腺右叶和峡部切除术,左上甲状旁腺进行了检查,术中冰冻病理检查。术中观察,发现甲状腺右叶周围粘连。因此,由于怀疑侵袭性恶性肿瘤,进行了右中央区淋巴结清扫术。组织学和免疫组织化学分析显示偶见甲状腺内甲状旁腺癌,对侧甲状旁腺腺瘤,经典甲状腺乳头状微小癌,结节性甲状腺肿.
    结论:当出现极高水平的PTH和严重的高钙血症时,应高度怀疑甲状旁腺癌。这不能简单地用术前局部甲状旁腺腺瘤来解释,尤其是术中探查发现可疑恶性粘连时。在多灶性甲状腺结节与99Tc-sestamibi摄取增加相关的情况下,应该考虑共存癌的可能性,不仅适用于甲状腺恶性肿瘤,还可能存在甲状腺内甲状旁腺癌。
    BACKGROUND: Parathyroid carcinoma (PC) is a rare malignancy, often diagnosed incidentally through postoperative pathological examination. The occurrence of nodular goiter, intrathyroidal parathyroid carcinoma, contralateral parathyroid adenoma (PA), and papillary thyroid microcarcinoma (PTMC) is extremely uncommon, which prompted us to report our case experience.
    METHODS: We describe a 67-year-old male who presented with a cervical mass causing tracheal compression, which prompted him to seek medical advice. Based on preoperative auxiliary examination results from color Doppler ultrasound, SPECT parathyroid imaging, and blood tests, he was initially diagnosed with a suspected parathyroid adenoma and nodular goiter. Excision of the right lobe and isthmus of the thyroid, and left superior parathyroid gland was conducted, which were sent to intraoperative frozen pathological examination. During intraoperative observation, adhesion around the right thyroid lobe was discovered. Consequently, right central area lymph node dissection was performed due to suspicion of an aggressive malignant tumor. Histology and immunohistochemistry analysis revealed incidental intrathyroidal parathyroid carcinoma, contralateral parathyroid adenoma, classical papillary thyroid microcarcinoma, and nodular goiter.
    CONCLUSIONS: Parathyroid carcinoma should be highly suspected when extremely high levels of PTH and severe hypercalcemia are present, which cannot be simply explained by a preoperatively localized parathyroid adenoma, especially when suspicious malignant adhesion is found during intraoperative exploration. In cases where multifocal thyroid nodules are associated with increased uptake of 99Tc-sestamibi, the possibility of coexisting carcinomas should be considered, not only for thyroid malignancy but also for the potential presence of intrathyroidal parathyroid carcinoma.
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  • 文章类型: Case Reports
    甲状旁腺癌(PC)是一种罕见且侵袭性的内分泌恶性肿瘤,治疗选择有限。目前的治疗如化学疗法和放射疗法已经证明了有限的功效。这里,我们报告了一例男性患者,其症状包括多饮,多尿,关节疼痛。进一步检查发现颈部有肿块,高钙血症,和甲状旁腺功能亢进,导致整体手术后诊断为PC。七个月后,患者出现局部复发和肺转移,通过左外侧颈淋巴结清扫术和胸腔镜楔形切除术切除。422基因小组测试显示存在表皮生长因子受体(EGFR)p.L858R(c。T2573G)突变,这可能会使EGFR-酪氨酸激酶抑制剂反应敏感,和磷脂酰肌醇-4,5-二磷酸3-激酶,催化亚基α(PIK3CA)p.E545KV(c.G1633A)突变。经过多学科治疗讨论,患者接受了多靶点酪氨酸激酶抑制剂治疗,安洛替尼,导致19个月的生存获益。该病例强调了靶向治疗在远处转移性PC患者长期生存方面的潜力。以及以基因组测序为指导的精准治疗对确定潜在治疗靶点的重要性。
    Parathyroid carcinoma (PC) is a rare and aggressive endocrine malignancy with limited treatment options. Current treatments such as chemotherapy and radiotherapy have demonstrated limited efficacy. Here, we report the case of a male patient who presented with symptoms including polydipsia, polyuria, and joint pain. Further examination revealed a neck lump, hypercalcemia, and hyperparathyroidism, leading to a diagnosis of PC after en bloc surgery. Seven months later, the patient developed local recurrence and lung metastases, which were resected via left lateral neck dissection and thoracoscopic wedge resection. A 422-gene panel test revealed the presence of epidermal growth factor receptor (EGFR) p.L858R (c. T2573G) mutation, which may sensitize the EGFR-tyrosine kinase inhibitor response, and phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha (PIK3CA) p.E545KV (c. G1633A) mutation. After multidisciplinary treatment discussions, the patient was treated with the multi-target tyrosine kinase inhibitor, anlotinib, resulting in survival benefits for 19 months. This case highlights the potential of targeted therapy in terms of long-term survival in patients with distant metastatic PC, as well as the importance of precision therapy guided by genome sequencing to identify potential therapeutic targets.
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  • 文章类型: Case Reports
    背景:高钙血症可能是妊娠期急性胰腺炎(AP)的一种罕见因素。这主要是由于原发性甲状旁腺功能亢进(PHPT),甲状旁腺癌引起的.我们展示了一例病例报告,以分析高钙血症引起的AP发作期间的诊断和治疗。
    方法:一名32岁的primigravida在足月妊娠期间出现急性胰腺炎。剖腹产后,血清淀粉酶和胰周渗出物减少,但是她的血清钙浓度持续升高超过4.0mmol/L。降低高钙血症的干预措施只是暂时有效,直到检测到1404pg/mL的高血清甲状旁腺激素(PTH)浓度。超声显示甲状腺左下叶有一个31mm×24mm的低回声椭圆形结节。她做了甲状旁腺切除术,导致血清PTH水平急剧下降,从2051pg/mL到299pg/mL的术前水平仅在切除后20分钟。同样,术后24小时血清钙从3.82mmol/L降至1.73mmol/L。最终的组织病理学提示甲状旁腺癌。
    结论:当出现难治性高钙血症时,应测量血清PTH水平以确定PHPT。甲状旁腺切除术是缓解高钙血症和明确潜在病理的最佳策略。
    BACKGROUND: Hypercalcemia can be a rare contributor to acute pancreatitis (AP) in pregnancy. This is primarily due to primary hyperparathyroidism (PHPT), resulting from parathyroid carcinoma. We exhibited a case report to analyze the diagnosis and treatment during the onset of hypercalcemia-induced AP.
    METHODS: A 32-year-old primigravida presented with acute pancreatitis near full-term gestation. Following a cesarean delivery, there was a reduction in serum amylase and peripancreatic exudate, but her serum calcium concentrations persistently elevated over 4.0 mmol/L. Interventions to lower the hypercalcemia were only temporarily effective, until a high serum parathyroid hormone (PTH) concentration of 1404 pg/mL was detected. Ultrasound revealed a 31 mm × 24 mm hypoechoic oval nodule in the left lower lobe of the thyroid gland. She underwent a parathyroidectomy, resulting in a dramatic decrease in serum PTH level, from preoperative levels of 2051 pg/mL to 299 pg/mL just 20 minutes after removal. Similarly, her serum calcium declined from 3.82 mmol/L to 1.73 mmol/L within 24 hours postoperatively. The final histopathology suggested parathyroid carcinoma.
    CONCLUSIONS: When refractory hypercalcemia is present, serum PTH levels should be measured to determine PHPT. Parathyroidectomy is the optimal strategy for alleviating hypercalcemia and clarifying the underlying pathology.
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  • 文章类型: Case Reports
    背景:甲状旁腺癌(PC)是一种难以诊断的罕见疾病,发病率低。相对准确的术前诊断对选择手术方法和患者预后非常重要。
    方法:本研究报告1例位于甲状腺的罕见PC患者的临床诊治情况,为PC的诊治提供病例参考。概述了一例64岁的男性患者,该患者因全身性肌肉和关节痛以及心悸来到我们医院。随后,该患者因“多发性骨髓瘤肾病待调查”入院治疗。患者使用甲状腺彩色超声诊断为“原发性甲状旁腺功能亢进和高钙血症危象”。
    结论:术中冰冻切片报告考虑甲状旁腺肿瘤。及时进行手术切除肿瘤,诊断为PC。
    BACKGROUND: Parathyroid carcinoma (PC) is a difficult-to-diagnose rare disease with low incidence. Relatively accurate preoperative diagnosis is very important in choosing surgical methods and patient prognosis.
    METHODS: This study reported the clinical diagnosis and treatment of a rare patient with PC located in the thyroid gland and provided a case reference for the diagnosis and treatment of PC. A case of a 64-year-old male patient who presented to our hospital with systemic muscle and joint pain and palpitations is outlined. Subsequently, the patient was admitted to the Department of Nephrology for the treatment of \"multiple myeloma nephropathy pending investigation\". The patient was diagnosed with \"primary hyperparathyroidism and hypercalcemic crisis\" using thyroid color ultrasound.
    CONCLUSIONS: The intraoperative frozen section report considered the parathyroid tumor. Surgical tumor resection was promptly performed, and the diagnosis of PC was confirmed.
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  • 文章类型: Case Reports
    近年来,与原发性甲状旁腺功能亢进(PHPT)相关的甲状旁腺癌(PC)得到了广泛的研究。关于慢性肾病(CKD)引起的继发性甲状旁腺功能亢进(SHPT)的PC演变的数据是,然而,稀缺。在PHPT中引起PC怀疑的大多数功能是CKD中通常的SHPT演变的一部分,反映甲状旁腺经历的自然变化。因此,手术前确定病变的恶性或良性特征很麻烦。我们介绍了2例终末期肾病患者的PC,其中之一是双边的,在高容量甲状旁腺手术中心进行全甲状旁腺切除术后诊断。还对数据进行了文献综述。直到2024年1月,对PubMed/MEDLINE数据库的系统搜索确定了42例与SHPT相关的PC。了解CKD中的PC特征可能会改善相关的骨骼和矿物质疾病管理,并降低转移的风险,甲状旁腺瘤,或复发。辐照,长期免疫抑制,长期透析年份,和基因型可能易患慢性刺激的甲状旁腺的恶性转化。尽管手术后诊断,当没有远处转移时,会出现良好的结局,即使没有“整体”切除。需要进一步的研究来描述针对该特定患者亚群量身定制的特定诊断和治疗方法。
    Parathyroid carcinoma (PC) associated with primary hyperparathyroidism (PHPT) has been well investigated in recent years. Data regarding PC evolution in secondary hyperparathyroidism (SHPT) due to chronic kidney disease (CKD) are, however, scarce. Most features that raise the suspicion of PC in PHPT are part of the usual SHPT evolution in CKD, mirroring the natural changes undergone by the parathyroid glands. Therefore, pre-surgically establishing the malignant or benign character of the lesions is cumbersome. We present two cases of PC in end-stage renal disease, one of which was bilateral, diagnosed after total parathyroidectomy in a high-volume parathyroid surgery center. A literature review of the data was also performed. A systematic search of the PubMed/MEDLINE database until January 2024 identified 42 cases of PC associated with SHPT. Understanding the PC features in CKD might improve associated bone and mineral disease management, and reduce the risk of metastasis, parathyromatosis, or recurrence. Irradiation, prolonged immunosuppression, long dialysis vintage, and genotype may predispose to the malignant transformation of chronically stimulated parathyroids. Despite postsurgical diagnosis, favorable outcomes occurred when distant metastases were absent, even without \"en bloc\" resection. Further research is warranted to delineate specific diagnostic and therapeutic approaches tailored to this particular patient subpopulation.
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