Klinische FragestellungLeukämie, akute myeloische; hereditär; Differentialdiagnose

NGS +

[Sanger]

Neoplasmen, die aus Vorläuferzellen der myeloischen Differenzierung entstehen; gekennzeichnet durch klonale Ausdehnung der myeloischen Blasten, mit Fieber, Blässe, Anämie, Blutungen + wiederkehrenden Infektionen

• Alias: AML
• Allelic: Adrenocortical carcinoma, pediatric (TP53)
• Allelic: Ataxia-pancytopenia syndrome (SAMD9L)
• Allelic: Basal cell carcinoma 7 (TP53)
• Allelic: Bone marrow failure syndrome 1 (SRP72)
• Allelic: Breast cancer, male, susceptibility to (BRCA2)
• Allelic: Breast cancer, somatic (TP53)
• Allelic: Breast cancer, susceptibility to (CHEK2)
• Allelic: Breast-ovarian cancer, familial, 1 (BRCA1)
• Allelic: Breast-ovarian cancer, familial, 2 (BRCA2)
• Allelic: Choroid plexus papilloma (TP53)
• Allelic: Colorectal cancer (TP53)
• Allelic: Colorectal cancer, hereditary nonpolyposis, type 1 (MSH2)
• Allelic: Colorectal cancer, hereditary nonpolyposis, type 2 (MLH1)
• Allelic: Colorectal cancer, hereditary nonpolyposis, type 4 (PMS2)
• Allelic: Colorectal cancer, hereditary nonpolyposis, type 5 (MSH6)
• Allelic: Colorectal cancer, susceptibility to (CHEK2)
• Allelic: Dyskeratosis congenita, AD 2 (TERT)
• Allelic: Dyskeratosis congenita, AD 4 (RTEL1)
• Allelic: Dyskeratosis congenita, AD 6 (ACD)
• Allelic: Dyskeratosis congenita, AR 4 (TERT)
• Allelic: Dyskeratosis congenita, AR 5 (RTEL1)
• Allelic: Dyskeratosis congenita, AR 7 (ACD)
• Allelic: Emberger syndrome (GATA2)
• Allelic: Endometrial cancer, familial (MSH6)
• Allelic: Glioblastoma 3 (BRCA2)
• Allelic: Glioma susceptibility 1 (TP53)
• Allelic: Hepatocellular carcinoma, somatic (TP53)
• Allelic: Immunodeficiency 21 (GATA2)
• Allelic: Li-Fraumeni syndrome (TP53)
• Allelic: Li-Fraumeni syndrome 2 (CHEK2)
• Allelic: MIRAGE syndrome (SAMD9)
• Allelic: Medulloblastoma (BRCA2)
• Allelic: Melanoma, cutaneous malignant, 9 (TERT)
• Allelic: Muir-Torre syndrome (MLH1, MSH2, )
• Allelic: Myelodysplastic syndrome, somatic (TET2)
• Allelic: Myelodysplastic syndrome, susceptibility to (GATA2)
• Allelic: Nasopharyngeal carcinoma, somatic (TP53)
• Allelic: Osteosarcoma (TP53)
• Allelic: Osteosarcoma, somatic (CHEK2)
• Allelic: Pancreatic cancer 2 (BRCA2)
• Allelic: Pancreatic cancer, somatic (TP53)
• Allelic: Pancreatic cancer, susceptibility to, 4 (BRCA1)
• Allelic: Platelet disorder, familial, with associated myeloid malignancy (RUNX1)
• Allelic: Prostate cancer (BRCA2)
• Allelic: Prostate cancer, familial, susceptibility to
• Allelic: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 (TERT)
• Allelic: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 (RTEL1)
• Allelic: Thrombocytopenia 5 (ETV6)
• Allelic: Tumoral calcinosis, familial, normophosphatemic (SAMD9)
• Allelic: Wilms tumor (BRCA2)
• Bone marrow failure syndrome 5 (TP53)
• Fanconi anemia, complementation group D1 (BRCA2)
• Fanconi anemia, complementation group S (BRCA1)
• Immunodeficiency 75 (TET2)
• Leukemia, acute myeloid (CEBPA)
• Leukemia, acute myeloid (RUNX2)
• Leukemia, acute myeloid (TERT)
• Leukemia, acute myeloid, somatic (CEBPA)
• Leukemia, acute myeloid, somatic (ETV6)
• Leukemia, acute myeloid, susceptibility to (GATA2)
• Mismatch repair cancer syndrome 1 (MLH1)
• Mismatch repair cancer syndrome 2 (MSH2)
• Mismatch repair cancer syndrome 3 (MSH6)
• Mismatch repair cancer syndrome 4 (PMS2)
• Monosomy 7 myelodysplasia + leukemia syndrome 2 (SAMD9)
• Monosomy 7 myelodysplasia and leukemia syndrome 1 (SAMD9L)
• Myeloproliferative/lymphoprolif. neoplasms, familial (multiple types), susceptibility to (DDX41)
• Neutropenia, severe congenital, 8, AD (SRP54)