Dataset Information

Phaeochromocytoma/paraganglioma and adverse clinical outcomes in patients with neurofibromatosis-1.

ABSTRACT: INTRODUCTION:Phaeochromocytomas/paragangliomas (PHAEO/PG) are linked to hereditary syndromes including neurofibromatosis type 1 (NF-1). Current guidelines do not recommend biochemical screening for PHAEO/PG in asymptomatic or normotensive patients with NF-1. This strategy may miss preventable morbidities in those patients who ultimately present with symptomatic PHAEO/PG. Our aim was to review the literature and extract data on mode of presentation and the incidence of reported adverse outcomes. METHODS:PubMed and EMBASE literature search using the keywords "Phaeochromocytoma", "Paraganglioma" and "Neurofibromatosis" was performed looking for reported cases from 2000 to 2018. RESULTS:73 reports of NF-1 patients with PHAEO/PG were found. Patients were predominately women (n=40) with a median age of 46 years (range 16-82). PHAEO/PG was found incidentally in most patients, 36/73 did not present with typical symptoms while 27 patients were normotensive at diagnosis. 31 patients had adverse outcomes including metastases and death. CONCLUSION:Given the protean presentation of PHAEO/PG, relying on symptomology and blood pressure status as triggers for screening is associated with adverse outcomes. Further studies are required to ascertain whether biochemical screening in asymptomatic and normotensive patients with NF-1 can reduce the rate of adverse outcomes.

SUBMITTER: Al-Sharefi A

PROVIDER: S-EPMC6198184 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Phaeochromocytoma/paraganglioma and adverse clinical outcomes in patients with neurofibromatosis-1.

Al-Sharefi Ahmed A Perros Petros P James Robert Andrew RA

Endocrine connections 20180817

<h4>Introduction</h4>Phaeochromocytomas/paragangliomas (PHAEO/PG) are linked to hereditary syndromes including neurofibromatosis type 1 (NF-1). Current guidelines do not recommend biochemical screening for PHAEO/PG in asymptomatic or normotensive patients with NF-1. This strategy may miss preventable morbidities in those patients who ultimately present with symptomatic PHAEO/PG. Our aim was to review the literature and extract data on mode of presentation and the incidence of reported adverse ou ...[more]

PMID: 30120202

Similar Datasets

Project description:BackgroundPhaeochromocytomas and paragangliomas are neuro-endocrine tumours that occur sporadically and in several hereditary tumour syndromes, including the phaeochromocytoma-paraganglioma syndrome. This syndrome is caused by germline mutations in succinate dehydrogenase B (SDHB), C (SDHC), or D (SDHD) genes. Clinically, the phaeochromocytoma-paraganglioma syndrome is often unrecognised, although 10-30% of apparently sporadic phaeochromocytomas and paragangliomas harbour germline SDH-gene mutations. Despite these figures, the screening of phaeochromocytomas and paragangliomas for mutations in the SDH genes to detect phaeochromocytoma-paraganglioma syndrome is rarely done because of time and financial constraints. We investigated whether SDHB immunohistochemistry could effectively discriminate between SDH-related and non-SDH-related phaeochromocytomas and paragangliomas in large retrospective and prospective tumour series.MethodsImmunohistochemistry for SDHB was done on 220 tumours. Two retrospective series of 175 phaeochromocytomas and paragangliomas with known germline mutation status for phaeochromocytoma-susceptibility or paraganglioma-susceptibility genes were investigated. Additionally, a prospective series of 45 phaeochromocytomas and paragangliomas was investigated for SDHB immunostaining followed by SDHB, SDHC, and SDHD mutation testing.FindingsSDHB protein expression was absent in all 102 phaeochromocytomas and paragangliomas with an SDHB, SDHC, or SDHD mutation, but was present in all 65 paraganglionic tumours related to multiple endocrine neoplasia type 2, von Hippel-Lindau disease, and neurofibromatosis type 1. 47 (89%) of the 53 phaeochromocytomas and paragangliomas with no syndromic germline mutation showed SDHB expression. The sensitivity and specificity of the SDHB immunohistochemistry to detect the presence of an SDH mutation in the prospective series were 100% (95% CI 87-100) and 84% (60-97), respectively.InterpretationPhaeochromocytoma-paraganglioma syndrome can be diagnosed reliably by an immunohistochemical procedure. SDHB, SDHC, and SDHD germline mutation testing is indicated only in patients with SDHB-negative tumours. SDHB immunohistochemistry on phaeochromocytomas and paragangliomas could improve the diagnosis of phaeochromocytoma-paraganglioma syndrome.FundingThe Netherlands Organisation for Scientific Research, Dutch Cancer Society, Vanderes Foundation, Association pour la Recherche contre le Cancer, Institut National de la Santé et de la Recherche Médicale, and a PHRC grant COMETE 3 for the COMETE network.

Project description:Background: Post-ischemic inflammatory response might be affected by many factors. We chose leukocyte count as a marker of inflammatory response and investigated whether the effects of leukocyte count on the clinical outcomes in acute ischemic stroke patients are different according to different factors. Methods: We derived data from the China National Stroke Registry II. Patients with ischemic stroke were classified into four groups by leukocyte count quartiles within the first 24 h after admission. Adverse clinical outcomes were defined as recurrent stroke, all-cause death, and poor functional outcomes (3 ? mRS ? 5) at 3-months and 1-year follow-up. The subgroup factors were age, sex, history of hypertension, history of diabetes, history of previous stroke, or transient ischemic attack and smoking status. We assessed the association between leukocyte count and adverse clinical outcomes and evaluated this association in different subgroups. Results: A total of 14,678 patients were included. Patients in higher quartiles were likely to be younger, male, smokers, and drinkers, and to have a shorter time from symptom onset to arrival, a more proportion of history of diabetes, atrial fibrillation, and hypertension, and a higher severity of stroke. Higher quartiles were associated with elevated risk of adverse clinical outcomes at 3-months and 1-year follow-up. Leukocyte count had a moderate accuracy to predict clinical outcomes. There was no difference in the relationship between leukocyte count and adverse clinical outcomes across subgroups such as age, sex, history of hypertension, and smoking. The effect of leukocyte count on all-cause death was pronounced among patients with previous stroke or transient ischemic attack, and the effect of leukocyte count on short-term poor functional outcomes was also pronounced among patients without diabetes. Conclusions: Leukocyte count is associated with short-term and long-term clinical outcomes of acute ischemic stroke and may have predictive value, especially in patients with certain specific characteristics.

Project description:Cytotoxic edema (CE) is an important form of perihematomal edema (PHE), which is a surrogate marker of secondary injury after intracerebral hemorrhage (ICH). However, knowledge about CE after ICH is insufficient. Whether CE has adverse effects on clinical outcomes of patients with ICH remains unknown. Therefore, we aimed to investigate the temporal pattern of CE and its association with clinical outcomes in patients with ICH. Data were derived from a randomized controlled study (comparing the deproteinized calf blood extract with placebo in patients with ICH). Intervention in this original study did not show any impact on hematoma and PHE volume, presence of CE, or clinical outcomes. We conducted our analysis in 20 patients who underwent magnetic resonance imaging with diffusion-weighted imaging (DWI) and apparent diffusion coefficient (ADC) images at day 3 and within 7-12 days after symptom onset. CE was defined as an elevated DWI b1000 signal and an ADC value reduced by > 10% compared with the mirror area of interest in the perihematomal region. The modified Rankin Scale (mRS), National Institutes of Health Stroke Scale (NIHSS), and Barthel Index (BI) were performed face to face at 30-day and 90-day follow-ups after ICH onset to assess the clinical outcomes of the patients. CE was detected in nearly two thirds of patients with ICH in our study and seemed to be reversible. CE within 7-12 days, rather than at day 3 after symptom onset, was associated with poor clinical outcome (mRS 3-6) at the 30-day follow-up (P = 0.020). In addition, compared with those without CE, patients with CE within 7-12 days had more severe neurological impairment measured by NIHSS score (P = 0.024) and worse daily life quality measured by BI (P = 0.004) at both the 30- and 90-day follow-ups. CE appears in the acute phase of ICH and might be reversible. CE within 7-12 days post ICH was related to poor outcomes, which provides a novel therapeutic target for ICH intervention.

Dataset Information

Phaeochromocytoma/paraganglioma and adverse clinical outcomes in patients with neurofibromatosis-1.

Publications

Phaeochromocytoma/paraganglioma and adverse clinical outcomes in patients with neurofibromatosis-1.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets