Klinische FragestellungLeukämie, akute lymphoblastische, hereditär; Suszeptibilität

NGS +

[Sanger]

Bösartige lymphatische Zellen im frühen Stadium der Differenzierung blockiert; 75% aller Fälle von Leukämie im Kindesalter

• Alias: Acute lymphoblastic T cell leukemia; ALL
• Alias: ETV6-RUNX1 ALL
• Allelic: Adrenocortical carcinoma, pediatric (TP53)
• Allelic: Aplastic anemia (NBN)
• Allelic: Ataxia-telangiectasia (ATM)
• Allelic: Basal cell carcinoma 7 (TP53)
• Allelic: Bloom syndrome (BLM)
• Allelic: Bone marrow failure syndrome 5 (TP53)
• Allelic: Breast cancer, somatic (TP53)
• Allelic: Breast cancer, susceptibility to (ATM)
• 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: Endometrial cancer, familial ((MSH6)
• Allelic: Erythrocytosis, somatic (SH2B3)
• Allelic: Glioma susceptibility 1 (TP53)
• Allelic: Hemophagocytic lymphohistiocytosis, fam., 5, with/-out microvillus inclusion dis. (STXBP2)
• Allelic: Hepatocellular carcinoma, somatic (TP53)
• Allelic: Immunodeficiency, common variable, 13 (IKZF1)
• Allelic: LEOPARD syndrome 1 (PTPN11)
• Allelic: LIG4 syndrome (LIG4)
• Allelic: Leukemia, acute myeloid, somatic (ETV6)
• Allelic: Leukemia, juvenile myelomonocytic, somatic (PTPN11)
• Allelic: Li-Fraumeni syndrome (TP53)
• Allelic: Lymphoma, B-cell non-Hodgkin, somatic (ATM)
• Allelic: Lymphoma, mantle cell, somatic (ATM)
• Allelic: Metachondromatosis (PTPN11)
• Allelic: Mismatch repair cancer syndrome (MLH1, MSH2, MSH6, PMS2)
• Allelic: Muir-Torre syndrome (MLH1, MSH2)
• Allelic: Multiple myeloma, resistance to (LIG4)
• Allelic: Myelofibrosis, somatic (SH2B3)
• Allelic: Nasopharyngeal carcinoma, somatic (TP53)
• Allelic: Nijmegen breakage syndrome (NBN)
• Allelic: Noonan syndrome 1 (PTPN11)
• Allelic: Osteosarcoma (TP53)
• Allelic: Pancreatic cancer, somatic (TP53)
• Allelic: T-cell prolymphocytic leukemia, somatic (ATM)
• Allelic: Thrombocythemia, somatic (SH2B3)
• Allelic: Thrombocytopenia 5 (ETV6)
• ALL, AML, MDS [panelapp] (TP53)
• ALL, B-ALL [panelapp] (PAX5)
• ALL, MDS, AML, CMML [panelapp] (ETV6)
• ALL, leukaemia, lymphoma [panelapp] (BLM)
• ALL, lymphoma [panelapp] (LIG4)
• Acute lymphoblastic leukaemia, ALL [panelapp] (IKZF1)
• Familial predisp to leukaemia, AD [panelapp] (SH2B3)
• JMML, ALL [panelapp] (PTPN11)
• Leukemia, acute lymphoblastic (NBN)
• Leukemia, acute lymphoblastic, susceptibility to, 3 (PAX5)
• Lymphoma, ALL, MDS, AML [panelapp] (MLH1, MSH2, MSH6, PMS2)
• Non-Hodgkin lymphoma, ALL [primarily T cell], lymphoma [panelapp] (NBN)
• PAX5-related familial ALL, Susceptibility to ALL [panelapp] (PAX5)
• Predisposition to acute lymphoblastic leukemia, ALL [panelapp] (STXBP2)
• Risk of lymphoma [panelapp] (STXBP2)
• SH2B3-related familial ALL [panelapp] (SH2B3)
• T-cell prolymphocytic leukemia, somatic [panelapp] (ATM)