Inherited Predisposition to Acute Myeloid Leukaemia

A(z) condition ismertetése

Inherited changes in certain genes raise the lifetime chance of developing acute myeloid leukaemia (AML), a cancer of the blood-forming cells. This report covers RUNX1, CEBPA, GATA2, ANKRD26, ETV6, TERT and TERC.

Acute myeloid leukaemia (AML) is a cancer of the blood-forming cells. Most AML arises from changes acquired in blood cells during life. Some people, however, carry an inherited change in a predisposition gene that raises their lifetime chance of developing it, and a single changed copy is enough to raise the risk.

The genes in this report include RUNX1, which causes familial platelet disorder, and the telomere biology genes TERT and TERC. Depending on the gene, people may have a lifelong low platelet count or bleeding tendency, as with RUNX1, ANKRD26 and ETV6, or, with TERT and TERC, bone marrow failure, lung scarring and liver disease. Leukaemia or myelodysplastic syndrome can develop at any age, and some carriers never develop leukaemia.

Care is usually led by a haematologist, with regular blood count monitoring and a baseline bone marrow assessment where advised. Many of these conditions are inherited in a dominant way, so each child of an affected person has a 1 in 2 chance of inheriting the change. Genetic counselling and testing of relatives are recommended.

A vizsgált betegség

Miért a teljes genom szekvenálás

Knowing the inherited cause matters for planning treatment and for relatives. This report looks only for inherited changes, so a negative result does not rule out an inherited risk.

Korlátok

• This report looks for inherited (germline) changes. Changes acquired in leukaemia cells are not analysed, and other predisposition genes, such as DDX41, are not included in this report's gene list, so a negative result does not rule out an inherited risk.

Hivatkozások

1. Perez Botero J, Dugan SN, 2018. ANKRD26-Related Thrombocytopenia. GeneReviews
2. Drazer M, Tawana K, 2010. CEBPA-Associated Familial Acute Myeloid Leukemia. GeneReviews
3. Deuitch N, Broadbridge E, Cunningham L, Liu P, 2021. RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies. GeneReviews
4. Savage SA, Niewisch MR, 2009. Dyskeratosis Congenita and Related Telomere Biology Disorders. GeneReviews

További cancer conditions

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• Birt-Hogg-Dubé SyndromeFLCN
• Bloom SyndromeBLM
• Breast and Ovarian Cancer Genes Beyond BRCA1/2ATM, BARD1, BRIP1, CDH1
• CYLD Cutaneous SyndromeCYLD
• Colorectal Cancer & PolyposisAPC, AXIN2, MSH3, MUTYH
• Cowden Syndrome (PTEN hamartoma tumour syndrome)AKT1, PTEN
• DICER1 Tumour PredispositionDICER1
• DNA Repair DiseaseAPTX, BRCA1, BRCA2, BRIP1
• FANCM-Related Genomic Instability DisorderFANCM
• Hereditary Breast and Ovarian Cancer (BRCA1/2)BRCA1, BRCA2
• Hereditary Diffuse Gastric CancerCDH1, CTNNA1
• Hereditary Gastrointestinal Stromal TumourKIT, PDGFRA, SDHB, SDHC
• Hereditary Leiomyomatosis and Renal Cell CancerFH
• Hereditary Mixed Polyposis SyndromeBMPR1A, GREM1
• Hereditary Pheochromocytoma and ParagangliomaEGLN1, MAX, RET, SDHA
• Hereditary Prostate CancerHOXB13
• Hereditary RetinoblastomaRB1
• Hereditary Wilms TumourREST, WT1
• Inherited Predisposition to Myeloid Blood CancersDDX41, GATA2, SAMD9, SAMD9L
• Juvenile Polyposis SyndromeBMPR1A, SMAD4
• Li-Fraumeni SyndromeTP53
• Lung CancerDICER1, EGFR
• Lynch SyndromeEPCAM, MLH1, MSH2, MSH6
• Malignant Endocrine NeoplasmCDC73, CDKN1B, MEN1, RET
• MedulloblastomaELP1, GPR161, SUFU
• MelanomaCDK4, CDKN2A, MITF, POT1
• Mosaic Variegated Aneuploidy SyndromeBUB1B, CEP57, SLF2, SMC5
• Myelodysplastic Syndrome (MDS)ERG, GATA2, SAMD9
• NTHL1 Tumour Predisposition SyndromeNTHL1
• Neuroblastoma Predisposition (ALK and PHOX2B)ALK, PHOX2B
• Nevoid Basal Cell Carcinoma (Gorlin) SyndromePTCH1, SUFU
• PALB2 related diseasesPALB2
• PAX5-Related Leukaemia PredispositionPAX5
• Perlman SyndromeDIS3L2
• Peutz-Jeghers SyndromeSTK11
• Rhabdoid Tumour and SWI/SNF Tumour PredispositionSMARCA4, SMARCB1, SMARCE1
• Rothmund-Thomson SyndromeANAPC1, CRIPT, RECQL4
• Serrated Polyposis Syndrome (RNF43)RNF43
• Thyroid CancerAIRE, ALB, CASR, CDC73
• Uterine Fibroids
• Von Hippel-Lindau DiseaseVHL