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《国际检验医学杂志》2020,(8):984-988
嗜铬细胞瘤/副神经节瘤(PPGL)为临床上少见的儿茶酚胺内分泌肿瘤,大多数为良性,有10%~25%为恶性并转移。三羧酸循环为能量供应的途径之一,当循环中任何酶突变会引起代谢改变,促进细胞增殖与存活,与肿瘤的发生发展、侵袭和转移相关。代谢酶相关突变参与PPGL发病机制,可成为PPGL靶向治疗的方向。 相似文献
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《Anaesthesia and Intensive Care Medicine》2020,21(11):572-577
Phaeochromocytomas and paragangliomas (PPGL) are catecholamine-secreting neuroendocrine tumours. These tumours may be identified incidentally, as part of a work-up for multiple endocrine neoplasia or following haemodynamic surges during unrelated procedures. Advances in preoperative management and improved management of intraoperative haemodynamic instability have significantly reduced surgical mortality from around 40% to less than 3%. Surgery is the definitive treatment in most cases and laparoscopic resection where possible is associated with improved outcomes. Anaesthetic management of PPGL cases represents a unique haemodynamic challenge both before, during and after tumour resection. In this article we describe the physiology of these tumours, their diagnosis, preoperative optimization methods, intraoperative anaesthetic management and management of postoperative complications. 相似文献
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Adel Abdallah Alberto Pappo Ulrike Reiss Barry L. Shulkin Zhengping Zhuang Karel Pacak Armita Bahrami 《Pediatric blood & cancer》2020,67(4)
We report an index case of a male patient who presented with all clinical manifestations of Pacak‐Zhuang syndrome, including early‐age polycythemia, multiple pheochromocytomas/paragangliomas, duodenal somatostatinoma, and ocular findings. Sequencing analysis detected an EPAS1 mutation in all tumors tested, but not in the germline. 相似文献
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Alejandra Gordillo Hernández Eduardo Dominguez-Adame Lanuza Auxiliadora Cano Matias Rosario Perez Huertas Katherine Maria Gallardo Rodriguez Purificacion Gallinato Perez Fernando Oliva Mompean 《World journal of gastrointestinal surgery》2015,7(8):170-173
Gangliocytic paragangliomas are rare tumors that almost exclusively occur within the second portion of the duodenum. Although these tumors generally have a benign clinical course, they have the potential to recur or metastasize to regional lymph nodes. The case report presented here describes a 57-year-old female patient with melena, progressive asthenia, anemia, and a mass in the second-third portion of the duodenum that was treated by local excision. The patient was diagnosed with a friable bleeding tumor. The histologic analysis showed that the tumor was a 4 cm gangliocytic paraganglioma without a malignant cell pattern. In the absence of local invasion or distant metastasis, endoscopic resection represents a feasible, curative therapy. Although endoscopic polypectomy is currently considered the treatment of choice, it is not recommended if the size of the tumor is > 3 cm and/or there is active or recent bleeding. Patients diagnosed with a gangliocytic paraganglioma should be closely followed-up for possible local recurrence. 相似文献
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Raffaella Santi Alessandro Franchi Valeria Saladino Massimo Trovati Giovanna Cenacchi Massimo Squadrelli-Saraceno Gabriella Nesi 《Head and neck pathology》2015,9(2):300-304
Paragangliomas (PGs) of the head and neck region are typically benign, slow-growing neuroendocrine tumours. At times, they may exhibit unusual histological features, such as prominent stromal sclerosis (sclerosing PG), which may raise concerns of malignancy. We describe a case of sclerosing PG of the carotid body, emphasizing the value of immunohistochemical stains for differential diagnosis. A 43-year-old woman presented with a painless lump on the neck. A magnetic resonance imaging scan demonstrated a hypervascular lesion of the carotid body, which was surgically excised. Grossly, the lesion measured 1.8 cm at maximum diameter. On microscopic examination, irregular nests and tiny bundles of neoplastic cells were found between thick bands of fibrous tissue. Focal nuclear cytomegaly and marked pleomorphism were noted. Neoplastic cells proved to be immunoreactive for chromogranin, synaptophysin and neuron specific enolase, but negative for cytokeratins, smooth muscle actin and CD34. Ultrastructurally, numerous mitochondria, rough endoplasmic reticulum structures and endocrine granules were seen in the cytoplasm of the tumour cells. On consideration of the above-mentioned clinico-pathological and ultrastructural findings a diagnosis of sclerosing PG was established. Sclerosing PG is a rare entity which may mimic a malignant neoplasm. The recognition of this unusual morphological variant of PG, together with appropriate immunostains, leads to the correct diagnosis. 相似文献
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目的归纳膀胱副神经节瘤的临床一般特征、诊断及治疗。方法收集兰州大学第二医院2013年3月—2020年8月所有膀胱肿瘤患者术后病理结果,对术后病理证实为副神经节瘤的7例患者的临床资料及随访结果进行回顾性分析。结果7例中术前明确诊断2例。7例均成功完成手术治疗。经尿道膀胱肿瘤电切术4例[2例术程平稳;2例术中出现血压剧烈波动,经过积极降压1例最终完成手术、另1例取活检后终止手术(院外积极酚苄明准备,3月后再次入院行腹腔镜下膀胱部分切除术)];1例行经尿道膀胱肿瘤激光剜除术,术程平稳;腹腔镜下膀胱部分切除3例(包括上述因术中血压无法有效控制中止手术者1例),平均手术时间130(30~180)min,平均术中出血30(20~50)mL。术后无相关并发症发生,术后住院3~5 d后恢复良好出院。1例发现肿瘤远处转移建议转外院继续治疗。7例均获随访,全身转移1例于外院治疗效果不佳,其余6例症状均有所改善,影像学检查未发现复发征象。远期结果仍有待进一步随访。结论膀胱副神经节瘤术前明确诊断困难,往往误诊为膀胱恶性肿瘤。手术为一线治疗方式,腹腔镜下膀胱部分切除术体现出微创优势,术后恢复快,部分选择性病例采用经尿道膀胱肿瘤电切术,同样可取得良好临床结果。 相似文献
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