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Two groups of patients with PitNETs were sequenced: a prospective group of patients (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u200966) who consented to sequencing prior to surgery and a retrospective group (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u200926) comprised of aggressive\/higher risk PitNETs. A higher mutational burden and fraction of loss of heterozygosity (LOH) was found in the aggressive, treatment-refractory PitNETs compared to the benign tumors (\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20091.3\u2009\u00d7\u200910\n                    <jats:sup>\u221210<\/jats:sup>\n                    and\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20098.5\u2009\u00d7\u200910\n                    <jats:sup>\u22129<\/jats:sup>\n                    , respectively). Within the corticotroph lineage, a characteristic pattern of recurrent chromosomal LOH in 12 specific chromosomes was associated with treatment-refractoriness (occurring in 11 of 14 treatment-refractory versus 1 of 14 benign corticotroph PitNETs,\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20091.7\u2009\u00d7\u200910\n                    <jats:sup>\u22124<\/jats:sup>\n                    ). Across the cohort, a higher fraction of LOH was identified in tumors with\n                    <jats:italic>TP53<\/jats:italic>\n                    mutations (\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20093.3\u2009\u00d7\u200910\n                    <jats:sup>\u22128<\/jats:sup>\n                    ). A machine learning approach identified loss of heterozygosity as the most predictive variable for aggressive, treatment-refractory behavior, outperforming the most common gene-level alteration,\n                    <jats:italic>TP53<\/jats:italic>\n                    , with an accuracy of 0.88 (95% CI: 0.70\u20130.96). Aggressive, treatment-refractory PitNETs are characterized by significant aneuploidy due to widespread chromosomal LOH, most prominently in the corticotroph tumors. This LOH predicts treatment-refractoriness with high accuracy and represents a novel biomarker for this poorly defined PitNET category.\n                  <\/jats:p>","DOI":"10.1007\/s00401-024-02736-8","type":"journal-article","created":{"date-parts":[[2024,5,17]],"date-time":"2024-05-17T05:11:06Z","timestamp":1715922666000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":33,"title":["Genome-wide loss of heterozygosity predicts aggressive, treatment-refractory behavior in pituitary neuroendocrine tumors"],"prefix":"10.1007","volume":"147","author":[{"given":"Andrew L.","family":"Lin","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vasilisa A.","family":"Rudneva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allison L.","family":"Richards","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanming","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hyung Jun","family":"Woo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"Cohen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jamie","family":"Tisnado","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nazanin","family":"Majd","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharon L.","family":"Wardlaw","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabrielle","family":"Page-Wilson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soma","family":"Sengupta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frances","family":"Chow","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernard","family":"Goichot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Byram H.","family":"Ozer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jorg","family":"Dietrich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa","family":"Nachtigall","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arati","family":"Desai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tina","family":"Alano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shahiba","family":"Ogilive","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David B.","family":"Solit","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tejus A.","family":"Bale","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"Rosenblum","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark T. 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Lin reports research funding from Bristol Myers Squibb. Lisa Nachtigall and Eliza B. Geer report research funding from Recordati. David B. Solit has consulted\/received honoraria from Rain Pharmaceuticals, Pfizer, Fog Pharma, PaigeAI, BridgeBio, Scorpion Therapeutics, FORE Therapeutics, Function Oncology, Pyramid, and Elsie Biotechnologies, Inc. The remaining authors have no disclosures to report.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"Patients with PitNETs were enrolled on a sequencing protocol (NCT01775072) that was approved by the MSKCC Institutional Review Board and conducted in accordance with International Ethical Guidelines for Biomedical Research Involving Human Subjects, Good Clinical Practice guidelines, the Declaration of Helsinki, and local laws, after providing written informed consent.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}}],"article-number":"85"}}