Real-life data of Pasireotide LAR in acromegaly: a long-term follow-up.

OBJECTIVE: Pasireotide LAR (PAS-LAR) was released in Italy in 2017 to treat acromegaly patients resistant to SRLs (Somatostatin Receptors Ligands). The long-term follow-up data of PAS-LAR therapy in Italy are limited. This study aimed to evaluate the efficacy and safety of PAS-LAR in acromegaly. DESIGN: Patients with acromegaly in PAS-LAR treatment were enrolled in three tertiary Italian endocrinological centers and evaluated by a retrospective observational real-life multicentre study. METHODS: Patients have been studied before (baseline) and 1, 6, 12, 24 and > 36 months after PAS-LAR start. Clinical, biochemical, and pituitary magnetic resonance data were collected, along with information on adverse events. Acromegaly disease activity was classified according to the IGF-1 index (normal value < 1.0). RESULTS: Fifty patients (female 23) were enrolled. PAS-LAR treatment (mean follow-up 24 ± 16 months) significantly decreased IGF-1 levels (IGF-1 index baseline vs last visit: 1.9 ± 0.6 vs 1.2 ± 0.6, p < 0.0001). At the last visit, 67% of patients had controlled disease, and 44% showed a decrease in tumor volume. Clinical and biochemical efficacy was observed as early as after 1-month of PAS-LAR treatment (IGF-1 index baseline vs 1-month: 1.9 ± 0.6 vs 1.4 ± 0.7, p < 0.0001). Also, 50% of patients referred headache improvement or disappearance. Fifteen patients discontinued PAS-LAR due to failure of treatment and poor glycaemic control. The prevalence of diabetes increased from 33% at the baseline to 54% at the last visit (p = 0.0072). CONCLUSION: In real-life settings, PAS-LAR significantly decreases symptoms, IGF-1 levels, and the size of adenoma in patients with acromegaly resistant to SRLs. Beneficial effects may occur early after the first injection.

Clinical relevance of phenotype/genotype correlations in the diagnosis and therapy of pheochromocytomas/paragangliomas.

Pheochromocytomas and paragangliomas are tumors arising from neural crest-derived cells. They can be sympathetic in origin, catecholamine secreting and located in the abdomen or chest, or parasympathetic, generally non-secreting and located in the head and neck region. It is well established that about 35% of them are genetically determined. Germ-line mutations in one of the 10 so far known susceptibility genes is especially suspected when the tumors are diagnosed in young patients, multiple or recurrent or associated with additional lesions typical of syndromic clinical pictures such as von Hippel-Lindau, Multiple Endocrine Neoplasia type 2 or Neurofibromatosis type 1. Tumor genetic profile determines the type and pattern of catecholamine release, the clinical presentation, the risk of malignancy and may influence the choice of the radiotracers used in functional imaging, the type of surgical procedures as well as the type of medical therapy in the treatment of metastatic disease.