Abstract | BACKGROUND: METHODS: For inclusion, humans and dog were diagnosed with CD. Whole exome sequencing (WES) was conducted on 6 human corticotroph PA. Transcriptome RNA-Seq was performed on 6 human and 7 dog corticotroph PA. Immunohistochemistry (IHC) was complete on 31 human corticotroph PA. Corticotroph PA were compared with normal tissue and between species analysis were also performed. RESULTS: Eight genes (MAMLD1, MNX1, RASEF, TBX19, BIRC5, TK1, GLDC, FAM131B) were significantly (P < 0.05) overexpressed across human and canine corticotroph PA. IHC revealed MAMLD1 to be positively (3+) expressed in the nucleus of ACTH-secreting tumor cells of human corticotroph PA (22/31, 70.9%), but absent in healthy human pituitary glands. CONCLUSIONS: In this small exploratory cohort, we provide the first preliminary insights into profiling the genomic characterizations of human and dog corticotroph PA with respect to MAMLD1 overexpression, a finding of potential direct impact to CD microadenoma diagnosis. Our study also offers a rationale for potential use of the canine model in development of precision therapeutics.
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Authors | Andrew Wang, Stewart G Neill, Scott Newman, Marianna A Tryfonidou, Adriana Ioachimescu, Michael R Rossi, Björn P Meij, Nelson M Oyesiku |
Journal | BMC endocrine disorders
(BMC Endocr Disord)
Vol. 21
Issue 1
Pg. 185
(Sep 13 2021)
ISSN: 1472-6823 [Electronic] England |
PMID | 34517852
(Publication Type: Journal Article)
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Copyright | © 2021. The Author(s). |
Chemical References |
- Biomarkers
- DNA-Binding Proteins
- MAMLD1 protein, human
- Nuclear Proteins
- Transcription Factors
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Topics |
- Adult
- Animals
- Biomarkers
(analysis)
- DNA-Binding Proteins
(genetics, metabolism)
- Dog Diseases
(genetics, metabolism, pathology)
- Dogs
- Female
- Follow-Up Studies
- Gene Expression Profiling
- Genome
- Humans
- Male
- Nuclear Proteins
(genetics, metabolism)
- Pituitary ACTH Hypersecretion
(genetics, metabolism, pathology)
- Prognosis
- Transcription Factors
(genetics, metabolism)
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