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An update on, and genetics of refractory adenomas of childhood

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Abstract

Pituitary adenomas in childhood tend to be more frequently due to germline genetic changes and are often diagnosed at late stages due to delayed recognition by pediatricians and other caretakers who are not familiar with this rare disease in childhood. As a result, often, pediatric pituitary adenomas are aggressive or remain refractory to treatment. In this review, we discuss germline genetic defects that account for the most common pediatric pituitary adenomas that are refractory to treatment. We also discuss some somatic genetic events, such as chromosomal copy number changes that characterize some of the most aggressive pituitary adenomas in childhood that end up being refractory to treatment.

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Funding

The work is in part supported by the Intramural Research Program, Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD), National Institutes of Health and in part by internal funds, IMBB, FORTH, Heraklion, Crete, Greece.

Author information

Authors and Affiliations

  1. Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, 20892, Bethesda, MD, USA

    Constantine A. Stratakis

  2. Human Genetics & Precision Medicine, IMMB, FORTH, Heraklion, Greece

    Constantine A. Stratakis

  3. ELPEN Research Institute, Athens, Greece

    Constantine A. Stratakis

  4. Medical Genetics, H. Dunant Hospital, Athens, Greece

    Constantine A. Stratakis

  5. Faculty of Medicine, European University of Cyprus, Nicosia, Cyprus

    Constantine A. Stratakis

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  1. Constantine A. Stratakis
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Contributions

Dr. Stratakis wrote the manuscript. We also thank Dr. Christina Tatsi, NICHD, NI, for her contributions.

Corresponding author

Correspondence to Constantine A. Stratakis.

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Dr. Stratakis holds patents on technologies involving PRKAR1A, PDE11A, GPR101 and related genes, and his laboratory has received research funding support by Pfizer Inc., unrelated to this project. Dr. Stratakis currently receives support by ELPEN pharmaceuticals SA, Human Longevity Inc., and has consulted for companies in the last six months on items unrelated to the subject of this report, such as Lundbeck Pharmaceuticals and Sterotherapeutics.

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Stratakis, C.A. An update on, and genetics of refractory adenomas of childhood. Pituitary 26, 281–287 (2023). https://doi.org/10.1007/s11102-023-01327-2

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