{"id":"498e9309-537d-5e6f-90f4-fb5e3b2475bb","stable_key":"a2968a2f-5b00-5212-8b8c-8a4262bcb149:tet2-mutated-across-myeloid-neoplasms","predicate":"is_mutated_in","statement":"Sequencing the TET2 coding region in 320 patients found somatic deletions or mutations in 19% of myelodysplastic syndromes (15 of 81), 12% of myeloproliferative disorders (24 of 198), 24% of secondary acute myeloid leukaemia (5 of 21) and 22% of chronic myelomonocytic leukaemia (2 of 9).","claim_class":"observational","status":"source_derived_draft","evidence_grade":"ungraded","direction":"context_dependent","is_public":true,"mechanism_event_id":"e4c5311e-5fb5-54bc-89fb-f5ec6bc80da0","mechanism_event_label":"Sequencing the TET2 coding region in 320 patients found somatic deletions or mutations in 19% of myelodysplastic syndromes (15 of 81), 12% of myeloproliferative disorders (24 of 198), 24% of secondary acute myeloid leukaemia (5 of 21) and 22% of chronic myelomonocytic leukaemia (2 of 9).","subject":{"id":"5433ea92-f679-5b25-a872-cb8a636ae4e1","slug":"tet2-human","display_name":"Human TET2","entity_type_key":"protein"},"object":{"id":"4fa5ecea-d3fa-52db-818a-f2b7b0d330b6","slug":"human-myeloid-neoplasm-tet2-mutation-frequency","display_name":"TET2 mutation frequency across human myeloid neoplasms","entity_type_key":"cellular_process"},"evidence_count":1,"mechanism_event":{"id":"e4c5311e-5fb5-54bc-89fb-f5ec6bc80da0","stable_key":"a2968a2f-5b00-5212-8b8c-8a4262bcb149:tet2-mutated-across-myeloid-neoplasms-event","event_type":"observed_relationship","label":"Sequencing the TET2 coding region in 320 patients found somatic deletions or mutations in 19% of myelodysplastic syndromes (15 of 81), 12% of myeloproliferative disorders (24 of 198), 24% of secondary acute myeloid leukaemia (5 of 21) and 22% of chronic myelomonocytic leukaemia (2 of 9).","description":"About one in seven patients with these blood cancers carried a damaged copy of TET2.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"5433ea92-f679-5b25-a872-cb8a636ae4e1","slug":"tet2-human","display_name":"Human TET2","entity_type_key":"protein"},"role":"subject","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"4fa5ecea-d3fa-52db-818a-f2b7b0d330b6","slug":"human-myeloid-neoplasm-tet2-mutation-frequency","display_name":"TET2 mutation frequency across human myeloid neoplasms","entity_type_key":"cellular_process"},"role":"target","stoichiometry":null,"state_label":"","sequence_order":1,"notes":""}]},"contexts":[{"dimension":"duration","value_text":"Cross-sectional","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"experimental_model","value_text":"320 patients with myeloid cancers; molecular, cytogenetic, comparative-genomic-hybridization and SNP analyses","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"exposure","value_text":"No intervention; observational sequencing of patient material","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"A mutation frequency is an association, not a demonstration that TET2 loss caused any of these cancers. Ascertainment was partly enriched: six patients were selected for 4q24 rearrangements and five for a JAK2 V617F-positive dominant clone.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"organism","value_text":"Homo sapiens","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"plain_language","value_text":"About one in seven patients with these blood cancers carried a damaged copy of TET2.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"[delhommeau-2009] Mutation in TET2 in myeloid cancers (2009). https://pubmed.ncbi.nlm.nih.gov/19474426/ DOI: 10.1056/nejmoa0810069","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"tissue","value_text":"Haematopoietic cells and bone marrow","comparator":null,"unit":null,"notes":"","entity":null}],"evidence":[{"id":"bf532402-192b-5d5f-8011-3b85dfc09210","evidence_kind":"source_excerpt","locator":"Lines 13-21","start_line":13,"end_line":21,"excerpt":"## tet2-mutated-across-myeloid-neoplasms\nSequencing the TET2 coding region in 320 patients found somatic deletions or mutations in 19% of myelodysplastic syndromes (15 of 81), 12% of myeloproliferative disorders (24 of 198), 24% of secondary acute myeloid leukaemia (5 of 21) and 22% of chronic myelomonocytic leukaemia (2 of 9).\nModel/species: 320 patients with myeloid cancers; molecular, cytogenetic, comparative-genomic-hybridization and SNP analyses\nOrganism: Homo sapiens\nTissue/system: Haematopoietic cells and bone marrow\nExposure: No intervention; observational sequencing of patient material\nDuration: Cross-sectional\nLimits: A mutation frequency is an association, not a demonstration that TET2 loss caused any of these cancers. Ascertainment was partly enriched: six patients were selected for 4q24 rearrangements and five for a JAK2 V617F-positive dominant clone.\nPrimary reference: [delhommeau-2009] Mutation in TET2 in myeloid cancers (2009). https://pubmed.ncbi.nlm.nih.gov/19474426/ DOI: 10.1056/nejmoa0810069","model_system":"320 patients with myeloid cancers; molecular, cytogenetic, comparative-genomic-hybridization and SNP analyses","directness":"reported_statement","verification_status":"source_derived_draft","notes":"","relationship":"supports","weight":1.0,"link_notes":"","source":{"id":"c0b9b176-985b-55c7-b8f5-f3ca16a7ddfe","stable_key":"import-a2968a2f-5b00-5212-8b8c-8a4262bcb149","title":"TET2 loss and malignancy: the step between a nutrient-responsive enzyme and the disease (2026-09-23)","document_type":"imported_text","citation_label":"Original AI-assisted curation of twelve primary studies located by Europe PMC title search, with every statement drafted from the retrieved abstract. Two pairs share a laboratory and are recorded as one line of evidence each. Genetic loss of function, pharmacological exposure and dietary depletion are kept as separate record types. Not publisher full text.","file_path":"","sha256":"22e2c8388d4f0c1813546ba6a9ccee3fa14c0c8f578bd9bd80103c1390b2536b","revision_id":"fbc29d8d-0420-562c-bfdb-1b5af42f2d08","review_status":"unverified_draft","notes":""}}],"relations":[],"conflicts":[],"corrections":[],"research":null}