Journal: The Journal of Clinical Endocrinology and Metabolism
Article Title: Overlapping Presentations and Diverse Genetic Defects Characterize Neuroendocrine Neoplasms in a Mexican Cohort
doi: 10.1210/clinem/dgaf075
Figure Lengend Snippet: Clinical characteristics of the study population and general description of genetic findings. (A) Sex distribution of the probands (n = 92). (B) Categories of clinical presentation of the study probands (n = 92). The categories were determined according to the clinical features observed at diagnosis and during follow-up. (C) Family history in probands (n = 92). Patients with no relevant family history were classified as sporadic and the rest were grouped into 10 categories, according to the phenotypes described in the family members. (D) All variants (n = 303) identified in the study, according to their predicted effect. (E) ACMG/AMP categories for all variants identified in the study (n = 303). (F) Comparison of the age at disease onset and diagnosis between individuals with a detected pathogenic or likely pathogenic variant (P/LP) and the rest of probands (Rest). The horizontal bar represents median, and the error bars depict interquartile range. CS, Cushing's syndrome; del, deletion; dup, duplication; FIPA, familial isolated pituitary adenoma; FMTC, familial medullary thyroid carcinoma; FPPGLs, familial pheochromocytomas/paragangliomas; gig/EO acro, gigantism and early onset acromegaly; ins, insertion; ins/del, insertion/deletion; LB, likely benign; LFL, Li–Fraumeni-like; LP, likely pathogenic; MEN-like, syndrome similar to multiple endocrine neoplasia; MEN1, multiple endocrine neoplasia type 1; MEN2A, multiple endocrine neoplasia type 2A; MTC, medullary thyroid carcinoma; M GI-NENs, multiple gastrointestinal neuroendocrine neoplasms; M panNENs, multiple pancreatic neuroendocrine neoplasms; NF1, neurofibromatosis type 1; non-GH EO PitNETs, early onset PitNETs not causing GH excess; panNEN, pancreatic neuroendocrine neoplasm; PitNET, pituitary neuroendocrine tumor; PPGL, pheochromocytoma/paraganglioma; VHL, Von Hippel Lindau syndrome; VUS, variants of uncertain significance.
Article Snippet: A commercial predesigned assay (Applied Biosystems TaqMan 6-carboxyfluorescein-labeled Hs02125257_cn) was used for ddPCR for VHL exon 3.
Techniques: Biomarker Discovery, Comparison, Variant Assay, Isolation
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