A novel DICER1 gene mutation in a 10-month-old boy presenting with ACTH-secreting pituitary blastoma and lung cystic dysplasia

Clinical outcomes and complications of pituitary blastoma

“…This observational study comprised a multi-institutional cohort of 17 patients with pituitary blastoma: updating 14 previously described cases (1)(2)(3)(4)(20)(21)(22)(23)(24)(25)(26)(27)(28) and fully characterizing three additional cases (16)(17)(18). Cases were identified by ongoing literature review, inquiries to leading pituitary experts and case referrals.…”

“…DICER1 genotyping has been previously reported for 14 cases (3,4,17,18). Sequencing of DICER1 was performed on Case 17 by using the custom-design Access Array (Fluidigm), and an exon trapping assay was used to validate the functional consequence of a newly identified splice-site variant (4, 29,30).…”

“…Since the reports by Sahakitrungruang et al (1 case) and de Kock et al (13 cases), three additional cases of pituitary blastoma have been thoroughly investigated (1)(2)(3)(4)(16)(17)(18)(20)(21)(22)(23)(24)(25)(26)(27)(28). In 2010, Salunke et al reported a 2-month-old female with Cushingoid stigmata since birth, ophthalmoplegia, hemiparesis, and a pituitary tumor diagnosed as a "congenital immature teratoma" (Case 17; Table 1) (30,31); the pathology on review was consistent with pituitary blastoma (16).…”

“…A DICER1 hotspot mutation was found in the tumor tissue, with loss of heterozygosity (LOH) suggested; a germline pathogenic variant could not be identified in DNA extracted from peripheral blood lymphocytes (Case 16; Table 1) (30,31). In a 2017 abstract, Kalinin et al reported pituitary blastoma in a 10-month-old male with Cushing disease and a past medical history of cystic lung dysplasia; the primary investigators documented somatic hotspot and inherited germline DICER1 pathogenic variants (Case 15; Table 1) (18,30,31).…”

“…Here, we report the long-term outcomes of all known, well-investigated cases of pituitary blastoma including three cases not previously published in detail (16)(17)(18). A recent brief report of a possible 18th case in a 19-year-old female is not included (19).…”