11 research outputs found

    Image-Guided Precision Medicine in the Diagnosis and Treatment of Pheochromocytomas and Paragangliomas

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    In this comprehensive review, we aimed to discuss the current state-of-the-art medical imaging for pheochromocytomas and paragangliomas (PPGLs) diagnosis and treatment. Despite major medical improvements, PPGLs, as with other neuroendocrine tumors (NETs), leave clinicians facing several challenges; their inherent particularities and their diagnosis and treatment pose several challenges for clinicians due to their inherent complexity, and they require management by multidisciplinary teams. The conventional concepts of medical imaging are currently undergoing a paradigm shift, thanks to developments in radiomic and metabolic imaging. However, despite active research, clinical relevance of these new parameters remains unclear, and further multicentric studies are needed in order to validate and increase widespread use and integration in clinical routine. Use of AI in PPGLs may detect changes in tumor phenotype that precede classical medical imaging biomarkers, such as shape, texture, and size. Since PPGLs are rare, slow-growing, and heterogeneous, multicentric collaboration will be necessary to have enough data in order to develop new PPGL biomarkers. In this nonsystematic review, our aim is to present an exhaustive pedagogical tool based on real-world cases, dedicated to physicians dealing with PPGLs, augmented by perspectives of artificial intelligence and big data

    Pituitary Stalk Interruption Syndrome from Infancy to Adulthood: Clinical, Hormonal, and Radiological Assessment According to the Initial Presentation.

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    Patients with pituitary stalk interruption syndrome (PSIS) are initially referred for hypoglycemia during the neonatal period or growth retardation during childhood. PSIS is either isolated (nonsyndromic) or associated with extra-pituitary malformations (syndromic).To compare baseline characteristics and long-term evolution in patients with PSIS according to the initial presentation.Sixty-seven patients with PSIS were included. Data from subgroups were compared: neonates (n = 10) versus growth retardation patients (n = 47), and syndromic (n = 32) versus nonsyndromic patients (n = 35).Neonates displayed a more severe hormonal and radiological phenotype than children referred for growth retardation, with a higher incidence of multiple hormonal deficiencies (100% versus 34%; P = 0.0005) and a nonvisible anterior pituitary lobe (33% versus 2%; P = 0.0017). Regular follow-up of growth might have allowed earlier diagnosis in the children with growth retardation, as decreased growth velocity and growth retardation were present respectively 3 and 2 years before referral. We documented a progressive worsening of endocrine impairment throughout childhood in these patients. Presence of extra-pituitary malformations (found in 48%) was not associated with more severe hormonal and radiological characteristics. Growth under GH treatment was similar in the patient groups and did not vary according to the pituitary MRI findings.PSIS diagnosed in the neonatal period has a particularly severe hormonal and radiological phenotype. The progressive worsening of endocrine impairment throughout childhood justifies periodic follow-up to check for additional hormonal deficiencies

    Imaging-guided precision medicine in non-resectable gastro-entero-pancreatic neuroendocrine tumors: A step-by-step approach

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    International audienceThe majority of gastroenteropancreatic (GEP) neuroendocrine tumors (NETs) are diagnosed at a non-resectable stage due to non-specific clinical syndromes, late manifestations from mass effects, or incidental detection of a clinically silent disease. Management strategies include curative or cytoreduction surgery, imaging-guided intervention, chemotherapy, immunotherapy, and radionuclide therapies. In this step-by-step review, we provide a structured approach for standardized reading and reporting of medical imaging studies covering content and terminology. This review explains which imaging studies should be used for different NETs and what should be reported when interpreting these studies. This standardized data collection guide should enable precision medicine for the management of patients with GEP-NETs of neuroectodermal origin: gastrointestinal-NETs (giNETs) and pancreatic NETs (pNETs). To improve outcomes from GEP-NETs, it contains a comprehensive evaluation of imaging aids for determining surgical non-resectability, and serves as a surrogate measure for tumor differentiation and proliferation, assessing the spatial and temporal heterogeneity of the tumor sites with prognostic and therapeutic implications

    Height SDS during the first 2 years of GH treatment and at final height.

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    <p>Error bars are medians with interquartile ranges. Significant statistical differences between height SDS at baseline and others time points: *** P < 0.0001 (2-way repeated-measures ANOVA plus Bonferroni post-test).</p

    Evolution of the hormonal impairment according to the initial presentation.

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    <p>(A) Frequency of GH, ACTH and/or TSH deficiencies in neonates (n = 10) and patients with growth retardation, at baseline (n = 47) and at final height (n = 21). Significant statistical difference in the number of cases of combined pituitary hormone deficiency between groups of neonates and patients with growth retardation: ** P < 0.001 (chi square test). The gonadotropic axis was evaluated in neonates (during “mini-puberty”) and in patients of postpubertal age. LH/FSH deficiency was found in 9 of 10 neonates (90%) and 12 of 21 patients with growth retardation at final height (57%); this was not statistically different (P = 0.1522). (B) Evolution of ACTH, and TSH deficiencies throughout childhood in patients with growth retardation who reached their final height (n = 21). All patients had GHD at diagnosis.</p

    Clinical and radiological characteristics at baseline of the 67 patients with PSIS and the subgroups.

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    <p>Values are medians (range) or percentages as indicated. P values were calculated using the Mann-Whitney test</p><p>Clinical and radiological characteristics at baseline of the 67 patients with PSIS and the subgroups.</p
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