Adrenal involvement in MEN1. Analysis of 715 cases from the Groupe d'étude des Tumeurs Endocrines database

ObjectiveLimited data regarding adrenal involvement in multiple endocrine neoplasia type 1 (MEN1) is available. We describe the characteristics of MEN1-associated adrenal lesions in a large cohort to provide a rationale for their management.MethodsAnalysis of records from 715 MEN1 patients from a multicentre database between 1956 and 2008. Adrenal lesions were compared with those from a multicentre cohort of 144 patients with adrenal sporadic incidentalomas.ResultsAdrenal enlargement was reported in 20.4% (146/715) of patients. Adrenal tumours (>10 mm in size) accounted for 58.1% of these cases (10.1% of the whole patient cohort). Tumours were bilateral and >40 mm in size in 12.5 and 19.4% of cases respectively. Hormonal hypersecretion was restricted to patients with tumours and occurred in 15.3% of them. Compared with incidentalomas, MEN1-related tumours exhibited more cases of primary hyperaldosteronism, fewer pheochromocytomas and more adrenocortical carcinomas (ACCs; 13.8 vs 1.3%). Ten ACCs occurred in eight patients. Interestingly, ACCs occurred after several years of follow-up of small adrenal tumours in two of the eight affected patients. Nine of the ten ACCs were classified as stage I or II according to the European Network for the Study of Adrenal Tumors. No evident genotype/phenotype correlation was found for the occurrence of adrenal lesions, endocrine hypersecretion or ACC.ConclusionsAdrenal pathology in MEN1 differs from that observed in sporadic incidentalomas. In the absence of relevant symptoms, endocrine biology can be restricted to patients with adrenal tumours and should focus on steroid secretion including the aldosterone–renin system. MEN1 is a high-risk condition for the occurrence of ACCs. It should be considered regardless of the size of the tumour.

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Laparoscopic Adrenalectomy for Potentially Malignant Adrenal Tumors Greater than 5 Centimeters

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jc.2005-2420 ◽

2006 ◽

Vol 91 (8) ◽

pp. 3080-3083 ◽

Cited By ~ 61

Author(s):

Chun-Hou Liao ◽

Shih-Chieh Chueh ◽

Ming-Kuen Lai ◽

Po-Jen Hsiao ◽

Jun Chen

Keyword(s):

Tumor Size ◽

Laparoscopic Adrenalectomy ◽

Malignant Tumors ◽

Adrenal Tumors ◽

Benign Tumors ◽

Conversion To Open Surgery ◽

Open Conversion ◽

Potentially Malignant ◽

Adrenocortical Carcinomas

Abstract Purpose: Laparoscopic adrenalectomy (LA) is controversial for large, potentially malignant tumors. We report a series of LA or hand-assisted LA for large (>5 cm) adrenal tumors. Patients and Methods: Among 210 LAs performed in 6 yr, 39 patients had potentially malignant tumors greater than 5 cm in diameter. Their perioperative and follow-up data were retrospectively analyzed. Results: All 39 patients had successful LAs without perioperative mortality, conversion to open surgery, or capsular disruption during dissection. The mean tumor size was 6.2 cm (range, 5–12 cm), operative time 207 min (115–315 min), and blood loss 75 ml (minimal–1400 ml). Complications included one intraoperative diaphragmatic perforation, three mild wound infections, and one pneumonia. Preoperatively there were 27 nonfunctioning tumors, seven pheochromocytomas, three cortisol-secreting tumors, and two virilizing tumors. Final pathology revealed eight malignant (four adrenocortical carcinomas and four metastatic carcinomas) and 31 benign tumors (14 cortical adenomas, eight pheochromocytomas, six myelolipomas, and three ganglioneuromas). Median follow-up was 39 months. Four patients (two adrenocortical carcinomas, one metastatic hepatoma, and one lymphoma) died 24, 10, 9, and 3 months after surgery, respectively. A hand-assisted device was used in 10 patients. Only the tumor size was larger and length of postoperative hospital stay longer for those in the hand-assisted group. Conclusions: LA is a reasonable option for selected large adrenal tumors when complete resection is technically feasible and there is no evidence of local invasion. Hand-assisted LA is a good alternative to open conversion if a difficult dissection is encountered intraoperatively.

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Elevated plasma levels of cardiac troponin-I predict left ventricular systolic dysfunction in patients with myotonic dystrophy type 1: A multicentre cohort follow-up study

PLoS ONE ◽

10.1371/journal.pone.0174166 ◽

2017 ◽

Vol 12 (3) ◽

pp. e0174166 ◽

Cited By ~ 4

Author(s):

Mark J. Hamilton ◽

Yvonne Robb ◽

Sarah Cumming ◽

Helen Gregory ◽

Alexis Duncan ◽

...

Keyword(s):

Troponin I ◽

Left Ventricular Systolic Dysfunction ◽

Systolic Dysfunction ◽

Left Ventricular ◽

Elevated Plasma ◽

Ventricular Systolic Dysfunction ◽

Follow Up Study ◽

Multicentre Cohort

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Serum inhibin pro-αC is a tumor marker for adrenocortical carcinomas

Acta Endocrinologica ◽

10.1530/eje-11-0693 ◽

2012 ◽

Vol 166 (2) ◽

pp. 281-289 ◽

Cited By ~ 6

Author(s):

Johannes Hofland ◽

Richard A Feelders ◽

Ronald van der Wal ◽

Michiel N Kerstens ◽

Harm R Haak ◽

...

Keyword(s):

Tumor Marker ◽

Adrenocortical Function ◽

Adrenal Tumors ◽

Adrenocortical Adenoma ◽

Characteristic Analysis ◽

Α Subunit ◽

Adrenocortical Hyperplasia ◽

Tumor Load ◽

Adrenocortical Carcinomas

ObjectiveThe insufficient diagnostic accuracy for differentiation between benign and malignant adrenocortical disease and lack of sensitive markers reflecting tumor load emphasize the need for novel biomarkers for diagnosis and follow-up of adrenocortical carcinoma (ACC).DesignSince the inhibin α-subunit is expressed within the adrenal cortex, the role of serum inhibin pro-αC as a tumor marker for ACC was studied in patients.MethodsRegulation of adrenal pro-αC secretion was investigated by adrenocortical function tests. Serum inhibin pro-αC levels were measured in controls (n=181) and patients with adrenocortical hyperplasia (n=45), adrenocortical adenoma (ADA,n=32), ACC (n=32), or non-cortical tumors (n=12). Steroid hormone, ACTH, and inhibin A and B levels were also estimated in patient subsets.ResultsSerum inhibin pro-αC levels increased by 16% after stimulation with ACTH (P=0.043). ACC patients had higher serum inhibin pro-αC levels than controls (medians 733 vs 307 ng/l,P<0.0001) and patients with adrenocortical hyperplasia, ADA, or non-adrenocortical adrenal tumors (148, 208, and 131 ng/l, respectively,P=0.0003). Inhibin pro-αC measurement in ACC patients had a sensitivity of 59% and specificity of 84% for differentiation from ADA patients. Receiver operating characteristic analysis displayed areas under the curve of 0.87 for ACC vs controls and 0.81 for ACC vs ADA (P<0.0001). Surgery or mitotane therapy was followed by a decrease of inhibin pro-αC levels in 10/10 ACC patients tested during follow-up (P=0.0065).ConclusionsInhibin pro-αC is produced by the adrenal gland. Differentiation between ADA and ACC by serum inhibin pro-αC is limited, but its levels may constitute a novel tumor marker for ACC.

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Clinical Spectrum Associated with Wolfram Syndrome Type 1 and Type 2: A Review on Genotype–Phenotype Correlations

International Journal of Environmental Research and Public Health ◽

10.3390/ijerph18094796 ◽

2021 ◽

Vol 18 (9) ◽

pp. 4796

Author(s):

Maurizio Delvecchio ◽

Matteo Iacoviello ◽

Antonino Pantaleo ◽

Nicoletta Resta

Keyword(s):

Clinical Presentation ◽

Neurodegenerative Disorder ◽

Transmembrane Protein ◽

Wolfram Syndrome ◽

Disease Genes ◽

Syndrome Type ◽

Phenotype Correlation

Wolfram syndrome is a rare neurodegenerative disorder that is typically characterized by diabetes mellitus and optic atrophy. Other common features are diabetes insipidus and hearing loss, but additional less-frequent findings may also be present. The phenotype spectrum is quite wide, and penetrance may be incomplete. The syndrome is progressive, and thus, the clinical picture may change during follow-up. Currently, two different subtypes of this syndrome have been described, and they are associated with two different disease-genes, wolframin (WFS1) and CISD2. These genes encode a transmembrane protein and an endoplasmic reticulum intermembrane protein, respectively. These genes are detected in different organs and account for the pleiotropic features of this syndrome. In this review, we describe the phenotypes of both syndromes and discuss the most pertinent literature about the genotype–phenotype correlation. The clinical presentation of Wolfram syndrome type 1 suggests that the pathogenic variant does not predict the phenotype. There are few papers on Wolfram syndrome type 2 and, thus, predicting the phenotype on the basis of genotype is not yet supported. We also discuss the most pertinent approach to gene analysis.

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Correction: Elevated plasma levels of cardiac troponin-I predict left ventricular systolic dysfunction in patients with myotonic dystrophy type 1: A multicentre cohort follow-up study

PLoS ONE ◽

10.1371/journal.pone.0175615 ◽

2017 ◽

Vol 12 (4) ◽

pp. e0175615

Author(s):

Mark J. Hamilton ◽

Yvonne Robb ◽

Sarah Cumming ◽

Helen Gregory ◽

Alexis Duncan ◽

...

Keyword(s):

Troponin I ◽

Left Ventricular Systolic Dysfunction ◽

Systolic Dysfunction ◽

Left Ventricular ◽

Elevated Plasma ◽

Ventricular Systolic Dysfunction ◽

Follow Up Study ◽

Multicentre Cohort

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Pancreatoduodenectomy for Neuroendocrine Tumors in Patients with Multiple Endocrine Neoplasia Type 1: An AFCE (Association Francophone de Chirurgie Endocrinienne) and GTE (Groupe d’étude des Tumeurs Endocrines) Study

World Journal of Surgery ◽

10.1007/s00268-021-06005-7 ◽

2021 ◽

Author(s):

Nicolas Santucci ◽

Sébastien Gaujoux ◽

Christine Binquet ◽

Cynthia Reichling ◽

Jean-Christophe Lifante ◽

...

Keyword(s):

Overall Survival ◽

Postoperative Complications ◽

Neuroendocrine Tumors ◽

Multiple Endocrine Neoplasia ◽

Multiple Endocrine Neoplasia Type ◽

Endocrine Neoplasia ◽

Tumeurs Endocrines ◽

Hormone Secretions

Abstract Aim To assess postoperative complications and control of hormone secretions following pancreatoduodenectomy (PD) performed on multiple endocrine neoplasia type 1 (MEN1) patients with duodenopancreatic neuroendocrine tumors (DP-NETs). Background The use of PD to treat MEN1 remains controversial, and evaluating the right place of PD in MEN1 disease makes sense. Methods Thirty-one MEN1 patients from the Groupe d’étude des Tumeurs Endocrines MEN1 cohort who underwent PD for DP-NETs between 1971 and 2013 were included. Early and late postoperative complications, secretory control and overall survival were analyzed. Results Indication for surgery was: Zollinger–Ellison syndrome (n = 18; 58%), nonfunctioning tumor (n = 9; 29%), insulinoma (n = 2; 7%), VIPoma (n = 1; 3%) and glucagonoma (n = 1; 3%). Mean follow-up was 141 months (range 0–433). Pancreatic fistulas occurred in 5 patients (16.1%), distant metastases in 6 (mean onset of 43 months; range 13–110 months), postoperative diabetes mellitus in 7 (22%), and pancreatic exocrine insufficiency in 6 (19%). Five-year overall survival was 93.3% [CI 75.8–98.3] and ten-year overall survival was 89.1% [CI 69.6–96.4]. After a mean follow-up of 151 months (range 0–433), the biochemical cure rate for MEN-1 related gastrinomas was 61%. Conclusion In MEN1 patients, pancreatoduodenectomy can be used to control hormone secretions (gastrin, glucagon, VIP) and to remove large NETs. PD was found to control gastrin secretions in about 60% of cases.

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