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1.
《European journal of medical genetics》2022,65(11):104609
BackgroundGastrointestinal stromal tumors have been detected in 25% of the necropsies performed on NF1 patients, but have been reported only in 7% of NF1 patients in the largest series. Such data imply an important gap between the true presence of tumors and those diagnosed. Few genotype-phenotype relationships have been described but to date none referring to abdominal tumors.ObjectivesEvaluate retrospectively the efficacy of a regular and proactive follow-up of NF1 patients to early diagnose abdominal tumors and report their mutations.MethodsCohort study performed between 2010 and 2020, with 43 NF1 adult patients followed at our Dermatology department.ResultsEight abdominal tumors were diagnosed in six patients, meaning that 14% of the followed patients developed an abdominal tumor. Five patients (83%) were asymptomatic. Five (83.3%) had a family history of NF1 with abdominal tumors (patients 1,2 and 3,4,5 were relatives).ConclusionsAlthough currently gastrointestinal routine screening investigations for asymptomatic patients are not recommended in the guidelines, the family aggregation in our series suggests it should be considered a close follow-up of the relatives of a patient with an NF1-related abdominal tumor. Also, for the first time, two mutations [c.2041C > T (p.Arg681Ter) and c.4537C > T (p.Arg1513*)] have been associated with family aggregation of abdominal tumors in NF1 patients. 相似文献
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D. Brancíková Z. Mechl Z. Adam E. Jandáková Z. Pavlovsky V. Válek Z. Andra?ina 《Current oncology (Toronto, Ont.)》2015,22(3):e216-e219
Malignant pheochromocytoma is a tumour with a very low incidence that occurs sporadically or in the presence of multiple endocrine neoplasia. We present the case of a woman with a sporadic occurrence of pheochromocytoma diagnosed in the phase of multiple dissemination in the abdominal cavity and overexpressing adrenaline, noradrenaline, and dopamine. Local transarterial chemoembolization and systemic treatment with lanreotide resulted in a very good response, a decrease in the production of catecholamines for 12 months and a partial decrease for another 8 months, with stabilization of disease determined by imaging.Systemic treatment with tegafur resulted in disease stabilization lasting 50 months, after which the drug was discontinued because of adverse effects. Maintenance therapy with lanreotide continues, and no disease progression has been observed for 4 months.The treatment algorithm for such patients is multidisciplinary and must always take into account the current scope of the disease, intercurrence, and the general condition of the patient. 相似文献
4.
目的:探讨无症状、生化检查正常的肾上腺嗜铬细胞瘤的诊治原则。方法:回顾分析12例无症状、生化检查正常的肾上腺嗜铬细胞瘤患者的临床资料,术前口服酚苄明1~2周,充分扩容,行腹腔镜肾上腺肿瘤切除术,其中经腰2例,经腹10例。结果:12例患者术中挤压肿瘤时血压均波动明显,手术一期完成,未发生大出血、心脑血管意外等严重并发症,无一例中转开放手术。术后病理均诊断为肾上腺嗜铬细胞瘤。随访6~36个月,血压正常,无复发。结论:无症状、生化检查正常的肾上腺肿瘤临床多见,术前按嗜铬细胞瘤进行准备,充分扩容后行腹腔镜手术是安全、有效的。 相似文献
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Jong-Ryool Oh Harshad Kulkarni Cecilia Carreras Georg Schalch Jung-Joon Min Richard P. Baum 《Nuclear Medicine and Molecular Imaging》2012,46(2):129-133
Von Hippel-Lindau (VHL) disease is a dominantly inherited familial cancer syndrome with a variety of benign and malignant tumors such as retinal and central nervous system hemangioblastomas, endolymphatic sac tumors, renal cysts and tumors, pancreatic cysts and tumors, pheochromocytomas, and epididymal cystadenomas. Cross-sectional modalities (computed tomography and magnetic resonance imaging) as well as ultrasound play a major role in the initial evaluation and follow-up of the various manifestations of VHL disease. Ga-68-labeled somatostatin receptor analogs already have a significant role in the diagnosis, staging, and therapy management of neuroendocrine neoplasms and neural crest tumors. Herein, we report a case presenting a variety of malignancies in VHL and showing the usefulness of Ga-68 somatostatin receptor PET/CT as a one-stop-shop imaging modality in the management of VHL disease. 相似文献
7.
Ligeng Zong Lizhen Meng Ruhui Shi 《International journal of clinical and experimental pathology》2015,8(2):1545-1554
This study aimed to screen the potential diagnostic biomarkers for distinguishing the malignant pheochromocytoma (PCC) from benign PCC. A total of 59 patients with PCC (benign and malignant) were enrolled in this study. The expression level of miRNAs in patients with different kind PCCs (healthy control, benign, malignant, malignant with or without SDHD mutation, adrenal and extra-adrenal) was analyzed using the qRT-PCR analysis. Besides, the diagnosis accuracy of miRNA in PCC samples was analyzed using the ROC analysis. Moreover, level of miR-101 in serum was detected by qRT-PCR analysis and serum VEGF level in patients with PCC was detected using the ELISA kit. Compared with benign PCC, miR-101 level was higher in patients with malignant PCC (P < 0.05), while the level of miR-513-5p and miR-26b showed no difference between malignant PCC and benign PCC (P > 0.05). miR-101 expression was significantly increased in malignant tumor tissue with SDHD mutation (P < 0.05) and in extra-adrenal tissues (P < 0.05), respectively. Besides, AUCs for miR-101 in PCC samples was 0.79 and for which in PCC samples with non-SDHD mutation was 0.77. Besides, serum miR-101 in malignant PCC was high but showed no difference among groups (P > 0.05). Moreover, serum VEGF level in malignant tumors was significantly high compared with benign tumor, as well as that in malignant PCC with SDHD mutation (P < 0.05). Our study suggested that SDHD mutation may enhance the overexpression of miR-101 in malignant tumors and miR-101 may be a potential diagnostic biomarker for malignant PCC and benign PCC. 相似文献
8.
Teik Hin Tan Zanariah Hussein Fathinul Fikri Ahmad Saad Ibrahim Lutfi Shuaib 《Nuclear Medicine and Molecular Imaging》2015,49(2):143-151
Purpose
To evaluate the diagnostic performance of 68Ga-DOTATATE 18F-fluorodeoxyglucose (18F-FDG) positron emission tomography (PET)/computed tomography (CT), 18F-FDG PET/CT and 131I-MIBG scintigraphy in the mapping of metastatic pheochromocytoma and paraganglioma.Materials and Methods
Seventeen patients (male = 8, female = 9; age range, 13–68 years) with clinically proven or suspicious metastatic pheochromocytoma or paraganglioma were included in this prospective study. Twelve patients underwent all three modalities, whereas five patients underwent 68Ga-DOTATATE and 131I-MIBG without 18F-FDG. A composite reference standard derived from anatomical and functional imaging findings, along with histopathological information, was used to validate the findings. Results were analysed on a per-patient and on per-lesion basis. Sensitivity and accuracy were assessed using McNemar’s test.Results
On a per-patient basis, 14/17 patients were detected in 68Ga-DOTATATE, 7/17 patients in 131I-MIBG, and 10/12 patients in 18F-FDG. The sensitivity and accuracy of 68Ga-DOTATATE, 131I-MIBG and 18F-FDG were (93.3 %, 94.1 %), (46.7 %, 52.9 %) and (90.9 %, 91.7 %) respectively. On a per-lesion basis, an overall of 472 positive lesions were detected; of which 432/472 were identified by 68Ga-DOTATATE, 74/472 by 131I-MIBG, and 154/300 (patient, n = 12) by 18F-FDG. The sensitivity and accuracy of 68Ga-DOTATATE, 131I-MIBG and 18F-FDG were (91.5 %, 92.6 % p < 0.0001), (15.7 %, 26.0 % p < 0.0001) and (51.3 %, 57.8 % p < 0.0001) respectively. Discordant lesions were demonstrated on 68Ga-DOTATATE, 131I-MIBG and 18F-FDG.Conclusions
Ga-DOTATATE PET/CT shows high diagnostic accuracy than 131I-MIBG scintigraphy and 18F-FDG PET/ CT in mapping metastatic pheochromocytoma and paraganglioma. 相似文献9.
de Herder WW Kwekkeboom DJ Feelders RA van Aken MO Lamberts SW van der Lely AJ Krenning EP 《Pituitary》2006,9(3):243-248
Tumors and metastases that express the somatostatin receptor subtypes sst2 sst3 or sst5 can be visualized in vivo after injection of radiolabeled octapeptide somatostatin analogs, like 111In-pentetreotide. 111In-pentetreotide scintigraphy also allows for more accurate staging of the disease by demonstrating tumor sites, which were
not shown by conventional imaging. 111In-pentetreotide scintigraphy may also detect resectable tumors that would have remained unrecognized using conventional radiological
imaging techniques; it may prevent surgery with curative intent in those patients whose tumors have metastasized to a greater
extend than could be detected with conventional radiological imaging and it may be used to select patients for treatment with
the currently available octapeptide somatostatin analogs or with tumor targeted radioactive treatment with radiolabelled somatostatin
analogs.
111In-pentetreotide scintigraphy has also been used to select patients with pituitary tumors for medical treatment with octapeptide
analogs, but its clinical usefulness for this purpose seems to be limited. It further allows scar tissue to be differentiated
from tumor recurrence after the pituitary surgery or radiotherapy. However, a large variety of lesions in and around the pituitary
region also express somatostatin receptors and, therefore, can be visualized by 111In-pentetreotide scintigraphy. 相似文献
10.
目的 探讨1例肾上腺嗜铬细胞瘤(PCC)伴双侧颈动脉体瘤(CBT)的临床特征和影像学特点,以提高对此类病例的认识。 方法 回顾性分析1例经手术病理证实为肾上腺PCC伴双侧CBT的CT、MRI表现及临床病理特征,并复习相关文献。 结果 病人临床表现无特异性。右侧肾上腺PCC于平扫CT上密度较均一,增强后明显强化,内见低强化区。CBT于头颈部血管CT(CTA)上呈明显不均匀强化团块影,高分辨MRI(HR-MRI)呈混杂信号团块影,其内有多发血管流空信号。病理结果显示线粒体琥珀酸脱氢酶B(SDHB)(+)。 结论 肾上腺PCC合并双侧CBT临床罕见,其影像表现具有一定特征,SDHB(+)可能与病灶的多发性有关。 相似文献