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Endocrine Pathology
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Endocrine Pathology - DOI: 10.1007/s12022-019-09595-0

Loss of BAP1 in Pheochromocytomas and Paragangliomas Seems Unrelated to Genetic Mutations

Valeria Maffeis · Rocco Cappellesso · Lorenzo Nicolè · Vincenza Guzzardo · Chiara Menin · Lisa Elefanti · Francesca Schiavi · Maria Guido · Ambrogio Fassina ·

Biology Medicine
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Endocrine Pathology - DOI: 10.1007/s12022-019-09594-1

Malignant Intrarenal/Renal Pelvis Paraganglioma with Co-Occurring SDHB and ATRX Mutations

Trent Irwin · Eric Q Konnick · Maria S Tretiakova ·

Medicine
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Conclusion In our report of adult and pediatric patients, early presentation in childhood with hypertrophic cardiomyopathy and skeletal muscle involvement was common, demonstrating the challenges of the clinical management of PRKAG2 mutations.

DAXX mutations were associated with TSC2 mutations (46% vs 10%, P < 0.

We propose that the active epigenetic landscape support decreased genomic stability and higher susceptibility for expansion mutations.

MTHFR and POLG mutations were consistent with the severe muscle weakness and the metabolic changes, including hyperhomocysteinemia and decreased activity of both N(5,10)methylenetetrahydrofolate reductase (MTHFR) and complexes I and II of the mitochondrial respiratory chain.

ABCA3 mutations-related lung disease inheritance is autosomal recessive, as it requires two disease-causing (bi-allelic) mutations, one from each parent.

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Endocrine Pathology

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Thyroid Pituitary Expression Carcinoma Neuroendocrine Diagnostic Neoplasms Tumor Follicular Review Neoplasm Mutation Lymph Metastasis Tumors Nodules Meta-analysis Impact Cell Parathyroid

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