Case study of monozygotic triplets with identical pineal cysts. Is pineal cyst hereditary condition?
Abstract
Background: Pineal cysts are common incidental findings of uncertain etiology, and the potential contribution of genetic factors to their development remains poorly understood. This study aimed to investigate the possibility of a hereditary predisposition to pineal cysts by examining a unique case of identical pineal cysts in a set of monozygotic triplets and by surveying familial occurrence of pineal cysts within an institutional patient database.
Methods: A retrospective case study was conducted on 21-year-old monozygotic male triplets, each identified with a pineal gland cyst. All three underwent brain MRI with dedicated evaluation of the pineal region, independently reviewed by two board-certified neuroradiologists. One symptomatic triplet (T1) underwent surgical resection; peripheral blood and resected cyst tissue were subjected to whole-exome sequencing using an Agilent/Illumina NextSeq platform with variant analysis against the GRCh38 reference genome. Additionally, an institutional database of 243 patients with pineal cysts was reviewed for familial clustering.
Results: All three triplets presented with morphologically identical 14 mm pineal cysts, despite variable clinical presentations. WES identified a germline HERC2 nonsense variant (c.7114G > T, p.Glu2372Ter) in peripheral blood and a somatic INO80E frameshift mutation (c.42del) in cyst tissue, suggesting a possible two-hit model. Database review revealed eight additional individuals across four unrelated…
How strong is the evidence?
Evidence Hub reads this as a case series, done in people. Its evidence level is 5 of 5 (Very low · case / narrative / animal / in vitro / in silico). Case reports, narrative reviews, and animal, cell or computer-model studies give the weakest evidence for human health. Reported size: 243 participants or records.
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