Klinische FragestellungMyeloproliferative Neoplasie - genetische Prädisposition; hereditär

NGS +

Myelodysplastische Syndrome als Gruppe von malignen Blut- + Knochenmarkserkrankungen, Stammzellen reifen nicht aus, vermehrt unreife Zellen, Blasten + dysplastische Zellen; normale reife Zellen im Blut nehmen ab, weniger Erythrozyten, weiße Blutkörperchen, Thrombozyten; Anämie, Neutropenie, Thrombozytopenie; periphere Zellzahlen können unauffällig sein, aber Blut- + Knochenmarkzellen sind dennoch anormal.

• Allelic: Breast cancer, susceptibility to (RAD51)
• Allelic: Breast-ovarian cancer, familial, susceptibility to, 3 (RAD51C)
• Allelic: Colorectal cancer, hereditary nonpolyposis, types 1, 2, 4, 5 (MSH2, MLH1, PMS2, MSH6)
• Allelic: Immunodeficiency 21 (GATA2)
• Allelic: Melanoma, cutaneous malignant, 9 (TERT)
• Allelic: Metachondromatosis (PTPN11)
• Allelic: Mirror movements 2 (RAD51)
• Allelic: Multiple myeloma, resistance to (LIG4)
• Allelic: Neurofibromatosis, familial spinal (NF1)
• Allelic: Premature ovarian failure 15 (FANCM)
• Allelic: Spermatogenic failure 28 (FANCM)
• Allelic: Uveal melanoma, susceptibility to, 1 (MBD4)
• Allelic: Xeroderma pigmentosum, group F (ERCC4)
• Anauxetic dysplasia 1 (RMRP)
• Anemia, XL, with/-out neutropenia and/or platelet abnormalities (GATA1)
• Aplastic anemia (NBN)
• Aplastic anemia (PRF1)
• Aplastic anemia, susceptibility to (SBDS)
• Ataxia-pancytopenia syndrome (SAMD9L)
• Ataxia-telangiectasia (ATM)
• Autoimmune disease, multisystem, infantile-onset, 1 (STAT3)
• Autoimmune lymphoproliferative syndrome, type IA (FAS)
• BM failure syndrome type AR [panelapp] (FANCM, NAF1)
• BM failure syndrome, type AR [panelapp] (RPL23, RPL31, RPL36, RPS15, RPS27A)
• Baller-Gerold syndrome (RECQL4)
• Bloom syndrome (BLM)
• Bone marrow failure syndrome 2 (ERCC6L2)
• Bone marrow failure syndrome 5 (TP53)
• Cartilage-hair hypoplasia (RMRP)
• Cerebroretinal microangiopathy with calcifications + cysts (CTC1)
• Cerebroretinal microangiopathy with calcifications + cysts 2 (STN1)
• Diamond-Blackfan anemia 1 (RPS19)
• Diamond-Blackfan anemia 10 (RPS26)
• Diamond-Blackfan anemia 11 (RPL26)
• Diamond-Blackfan anemia 12 (RPL15)
• Diamond-Blackfan anemia 13 (RPS29)
• Diamond-Blackfan anemia 14 with mandibulofacial dysostosis (TSR2)
• Diamond-Blackfan anemia 15 with mandibulofacial dysostosis (RPS28)
• Diamond-Blackfan anemia 16 (RPL27)
• Diamond-Blackfan anemia 17 (RPS27)
• Diamond-Blackfan anemia 3 (RPS24)
• Diamond-Blackfan anemia 4 (RPS17)
• Diamond-Blackfan anemia 5 (RPL35A)
• Diamond-Blackfan anemia 6 (RPL5)
• Diamond-Blackfan anemia 7 (RPL11)
• Diamond-Blackfan anemia 8 (RPS7)
• Diamond-Blackfan anemia 9 (RPS10)
• Diamond-Blackfan anemia [panelapp] (RPL23, RPL31, RPL36, RPS15, RPS27A)
• Dyskeratosis congenita [panelapp] (NAF1)
• Dyskeratosis congenita, AD 2 (TERT)
• Dyskeratosis congenita, AD 3 (TINF2)
• Dyskeratosis congenita, AD 4 (RTEL1)
• Dyskeratosis congenita, AD 6 (ACD)
• Dyskeratosis congenita, AR 1 (NOP10)
• Dyskeratosis congenita, AR 2 (NHP2)
• Dyskeratosis congenita, AR 3 (WRAP53)
• Dyskeratosis congenita, AR 4 (TERT)
• Dyskeratosis congenita, AR 5 (RTEL1)
• Dyskeratosis congenita, AR 6 (PARN)
• Dyskeratosis congenita, AR 7 (ACD)
• Dyskeratosis congenita, XL (DKC1)
• Emberger syndrome; primary lymphedema with myelodysplasia (GATA2)
• Fanconi anemia, complementation group A-M (FANCA-FANCM)
• Fanconi anemia, complementation group D1 (BRCA2)
• Fanconi anemia, complementation group D2 (FANCD2)
• Fanconi anemia, complementation group J (BRIP1)
• Fanconi anemia, complementation group N (PALB2)
• Fanconi anemia, complementation group O (RAD51C)
• Fanconi anemia, complementation group P (SLX4)
• Fanconi anemia, complementation group Q (ERCC4)
• Fanconi anemia, complementation group R (RAD51)
• Fanconi anemia, complementation group S (BRCA1)
• Fanconi anemia, complementation group T (UBE2T)
• Fanconi anemia, complementation group U (XRCC2)
• Fanconi anemia, complementation group V (MAD2L2)
• Gaucher disease, type I, II, III, IIIC (GBA)
• Head/neck + anogenital squamous cell, liver, esophagus CA; squamous c. CA: oral, GI, vulva (FANCB-M)
• Hemophagocytic lymphohistiocytosis, familial, 2 (PRF1)
• Hemophagocytic lymphohistiocytosis, familial, 3 (UNC13D)
• Hemophagocytic lymphohistiocytosis, familial, 4 (STX11)
• Hemophagocytic lymphohistiocytosis, familial, 5, +/- microvillus inclusion disease (STXBP2)
• Hyper-IgE recurrent infection syndrome (STAT3)
• Hyper-IgE recurrent infection syndrome, AR (DOCK8)
• Juvenile myelomonocytic leukemia (CBL)
• LEOPARD syndrome 1 (PTPN11)
• LIG4 syndrome (LIG4)
• Leukemia, acute lymphoblastic (NBN)
• Leukemia, acute lymphoblastic, susceptibility to, 3 (PAX5)
• Leukemia, acute myeloid (CEBPA)
• Leukemia, acute myeloid (RUNX1)
• Leukemia, acute myeloid (TERT)
• Leukemia, acute myeloid, susceptibility to (GATA2)
• Leukemia, juvenile myelomonocytic (NF1)
• Li-Fraumeni syndrome (TP53)
• Lymphoma, non-Hodgkin (PRF1)
• Lymphoproliferative syndrome 1 (ITK)
• Lymphoproliferative syndrome, XL, 1 (SH2D1A)
• MDS, AML [panelapp] (RPL23, RPL31, RPL36, RPS15, RPS27A)
• Metaphyseal dysplasia without hypotrichosis (RMRP)
• Mismatch repair cancer syndrome 1, 2, 3, 4 (MLH1, MSH2, MSH6, PMS2)
• Monosomy 7 myelodysplasia and leukemia syndrome 1 (SMAD9L)
• Muir-Torre syndrome (MLH1, MSH2)
• Myelodysplastic syndrome, susceptibility to (GATA2)
• Myeloproliferative/lymphoproliferative neoplasms, familial, multiple types, suscept. to (DDX41)
• Neurofibromatosis, type 1 (NF1)
• Neurofibromatosis-Noonan syndrome (NF1)
• Neutropenia, cyclic (ELANE)
• Neutropenia, severe congenital 1, AD (ELANE)
• Neutropenia, severe congenital 3, AR (HAX1)
• Neutropenia, severe congenital, XL (WAS)
• Nijmegen breakage syndrome (NBN)
• Noonan syndrome 1 (PTPN11)
• Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (CBL)
• Platelet disorder, familial, with associated myeloid malignancy (RUNX1)
• Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 (TERT)
• Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 (RTEL1)
• Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 (PARN)
• RAPADILINO syndrome (RECQL4)
• Revesz syndrome (TINF2)
• Rothmund-Thomson syndrome, type 1 (ANAPC1)
• Rothmund-Thomson syndrome, type 2 (RECQL4)
• Shwachman-Diamond syndrome (SBDS)
• Thrombocytopenia 2 (ANKRD26)
• Thrombocytopenia 5 (ETV6)
• Thrombocytopenia with beta-thalassemia, XL (GATA1)
• Thrombocytopenia, XL (WAS)
• Thrombocytopenia, XL, intermittent (WAS)
• Thrombocytopenia, XL, with/-out dyserythropoietic anemia (GATA1)
• Tumor predisposition syndrome 2 (MBD4)
• Watson syndrome (NF1)
• Wiskott-Aldrich syndrome (WAS)