12 research outputs found
An extremely rare association of TSH-secreting pituitary adenoma, metastatic neuroendocrine tumor and Cushing’s syndrome in a patient with MEN-1 gene mutation
Multiple endocrine neoplasia (MEN)-1 syndrome is a rare disorder, due to the loss of function of the tumor suppressor menin. It consists of the association of two or more endocrine tumors, often presenting in a familial setting, being inherited in an autosomal dominant fashion. The most frequent manifestations of MEN-1 syndrome are primary hyperparathyroidism, followed by pituitary adenomas (mainly prolactinomas) and gastrointestinal neuroendocrine tumors, but several other associated conditions have been reported. Herein we describe the case of a male patient, affected by sporadic MEN-1, diagnosed with primary hyperparathyroidism, TSH-secreting pituitary adenoma and bilateral adrenal hyperplasia causing Cushing’s syndrome, due to a de novo MEN-1 gene mutation. The patient has been successfully treated with first generation somatostatin analog Octreotide LAR (30 mg every 28 days) -with stabilization of the known neuroendocrine lesions and shrinkage of the pituitary adenoma- and with bilateral adrenalectomy. The patient is still regularly followed-up at our Endocrine Unit, and his clinical conditions are stable
Aggressive Pituitary Adenomas: The Dark Side of the Moon
Although pituitary adenomas are considered benign lesions, a small group may show clinically aggressive behavior, sometimes independently from the classic markers of aggressiveness, including the Ki67 labeling index or p53 expression
Early identification of cardiovascular involvement in patients with β-thalassemia major
The aim of the present study was to evaluate left ventricular myocardial deformation and carotid arterial stiffness using 2-dimensional strain and echo-tracking in patients with asymptomatic β-thalassemia major (β-TM) without significant myocardial iron overload to determine whether early subclinical cardiovascular abnormalities would be detectable. We enrolled 32 patients with β-TM (23 women, mean age 35 ± 8 years) and 33 healthy volunteers (20 women, mean age 35 ± 6 years). All subjects underwent echocardiography with 2-dimensional strain analysis (XStrain) and ultrasonography of the carotid arteries with measurement of the stiffness parameters (ProSound Alpha 10). Cardiac magnetic resonance imaging using a T2* algorithm (37.7 ± 5.6 ms) for the assessment of myocardial iron overload was performed in each patient. The clinical and standard echocardiographic parameters were comparable between the patients and healthy subjects. The global left ventricular longitudinal strain was significantly impaired in the patients compared with the controls (-17.9 ± 3.5% vs -24.3 ± 3.4%, p = 0.002), although the radial and circumferential strain values were similar between the 2 groups (p = NS for both). The carotid intima-media thickness was comparable between the patients and healthy subjects (0.67 ± 0.20 mm vs 0.66 ± 0.15 mm, p = NS). In contrast, the arterial stiffness was significantly increased in the patients compared with the controls (stiffness index 6.16 ± 1.31 vs 4.65 ± 0.82,
Thyroid dysfunction in thalassaemic patients: ferritin as a prognostic marker and combined iron chelators as an ideal therapy
Aggressive pituitary adenomas: the dark side of the moon
Background: Although pituitary adenomas are considered benign lesions, a small group may exhibit a clinically aggressive behavior, sometimes independently from the classic markers of aggressiveness, including the Ki67 labeling index and/or p53 expression. Methods: We selected 7 subjects harboring a pituitary tumor with clinical features of aggressiveness. Patients underwent a full preoperative and postoperative endocrinological and neuroradiological work-up. Two were nonfunctioning, two PRL-secreting, two ACTH-secreting, and one a GH-secreting adenoma. Results: The 7 patients underwent a total of 17 surgical procedures. At the first surgical procedure in none of the patients a gross total removal was achieved, whereas a subtotal removal - > 90% of tumor removed - was achieved in 4/7 cases, and a partial removal - < 90% of tumor removed - was achieved in 3/7 cases. At first operation, 4/7 patients showed a Ki67 ≤ 3%, 2/7 > 3% ; it was not available in one patient. Postoperatively, all patients underwent radiation therapy. Three patients received chemotherapy with temozolomide. Three patients underwent peptide receptor radionuclide therapy (PRRT). To date, 1 patient died from tumor progression, two patients are in poor general conditions. The remaining 4 patients are in fair/good conditions, without any major complaints. The mean follow-up is 43.42 months. Conclusions: Aggressive pituitary adenomas represent a specific and still underestimated entity, often diagnosed late. Clinical and neuroradiological rapid progression is often the only marker of aggressiveness. Surgical debulking remains first therapeutic option. Multidisciplinary management is mandatory to offer to these patients targeted therapeutic options
Safety and efficacy of nivolumab for metastatic renal cell carcinoma: real-world results from an expanded access programme
ObjectiveTo report the safety and efficacy results of patients enrolled in the Italian Nivolumab Renal Cell Cancer Expanded Access Programme.
Patients and MethodsPatients with metastatic renal cell cancer (mRCC) previously treated with agents targeting the vascular endothelial growth factor pathway were eligible to receive nivolumab 3mg/kg once every 2weeks. Patients included in the analysis had received 1 dose of nivolumab and were monitored for adverse events (AEs) using Common Terminology Criteria for Adverse Events (CTCAE) v.4.0.
ResultsA total of 389 patients were enrolled between July 2015 and April 2016, of whom 18% were aged 75years, 6.7% had non-clear cell RCC, 49.6% had bone and 8.2% brain metastases, and 79% had received 2 previous lines of therapy. The most common any-grade treatment-related AEs were fatigue (13%) and rash (9%). Twenty-two patients (5.7%) discontinued treatment because of AEs. There were no treatment-related deaths. The objective response rate was 23.1%. At a median follow-up of 12months, the median progression-free survival was 4.5months (95% confidence interval 3.7-6.2) and the 12-month overall survival rate was 63%. Similar survival rates were reported among patients with non-clear-cell histology, elderly patients, those with bone and/or brain metastases, and those who had received prior first-line sunitinib or pazopanib, or prior everolimus.
ConclusionThe safety and efficacy observed were consistent with those reported in the pivotal Checkmate 025 trial. Results in patients with non-clear-cell mRCC who were elderly, pretreated with everolimus, and had bone and/or brain metastases encourage the use of nivolumab in these categories of patient