Klinische FragestellungLeukämie, chronisch lymphatische B-Zell, hereditär; Differentialdiagnose
Zusammenfassung
Ein kuratiertes panel mit 18 Genen zur umfassenden Untersuchung der Erblichkeit von chronisch lymphatischer B-Zell-Leukämie
46,3 kb (Erweitertes Panel: inkl. additional genes)
- EDTA-Blut (3-5 ml)
NGS +
[Sanger]
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
---|---|---|---|---|
ATM | 9171 | NM_000051.4 | AR | |
BLM | 4254 | NM_000057.4 | AR | |
DOCK8 | 6300 | NM_203447.4 | AR | |
FAS | 1008 | NM_000043.6 | AD | |
GBA1 | 1611 | NM_001005741.3 | AR | |
LIG4 | 2736 | NM_002312.3 | AR | |
MLH1 | 2271 | NM_000249.4 | AR | |
MSH2 | 2805 | NM_000251.3 | AR | |
MSH6 | 4083 | NM_000179.3 | AR | |
NBN | 2265 | NM_002485.5 | AR | |
PMS2 | 2589 | NM_000535.7 | AR | |
PRF1 | 1668 | NM_001083116.3 | AR | |
RMRP | 300 | NR_003051.3 | AR | |
SH2D1A | 378 | NM_001114937.3 | XLR | |
UNC13D | 3273 | NM_199242.3 | AR, AD, Sus | |
WAS | 1509 | NM_000377.3 | XLR |
Infos zur Erkrankung
Chronische lymphatische Leukämie (CLL) ist die häufigste Leukämie bei Erwachsenen. Eine familiäre Vorgeschichte der Krankheit ist der am besten definierte Risikofaktor, und etwa 15–20 % der CLL-Patienten haben ein Familienmitglied mit CLL oder einer verwandten lymphoproliferativen Erkrankung. Familien mit einer scheinbar autosomal-dominanten Vererbung der CLL sind keine Seltenheit. Mit Hilfe von Assoziationsstudien konnten mehrere Suszeptibilitätsloci identifiziert werden.
Literatur:
https://pmc.ncbi.nlm.nih.gov/articles/PMC3734903/
- Alias: B-cell chronic lymphoid leukemia, B-CLL
- Alias: Haematological malignancies cancer susceptibility
- Alias: Small lymphocytic lymphoma
- Allelic: Autoimmune disease, multisystem, infantile-onset, 1 (STAT3)
- Allelic: BM failure syndrome, type AR [panelapp] (WAS)
- Allelic: Brain tumors, rhabdomyosarcoma; rare reports [panelapp] (NBN)
- Allelic: Breast cancer, susceptibility to (ATM)
- Allelic: CNS + gastrointest. cancers; ovarian; uterine; other [panelapp] (MLH1, MSH2, MSH6, PMS2)
- Allelic: Cartilage-hair hypoplasia (RMRP)
- 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: Gaucher disease, perinatal lethal (GBA)
- Allelic: Hodgkins lymphoma [panelapp] (ITK)
- Allelic: Lewy body dementia, susceptibility to (GBA)
- Allelic: Metaphyseal dysplasia without hypotrichosis (RMRP)
- Allelic: Muir-Torre syndrome (MLH1, MSH2)
- Allelic: Multiple myeloma, resistance to (LIG4)
- Allelic: Neutropenia, severe congenital, XL (WAS)
- Allelic: Parkinson disease, late-onset, susceptibility to (GBA)
- Allelic: Predisposition to acute lymphoblastic leukemia, ALL [panelapp] (STXBP2)
- Allelic: Squamous carcinoma, bcc [panelapp] (RMRP)
- Allelic: Thrombocytopenia, XL (WAS)
- Allelic: Thrombocytopenia, XL, intermittent (WAS)
- Allelic: XL neutropenia [panelapp] (WAS)
- ALL [panelapp] (LIG4)
- ALL, primarily T cell; Lymphoma [panelapp] (NBN)
- Allelic: Skin squamous cell tumors [panelapp] (BLM)
- Allelic: Squamous cell carcinoma (DOCK8)
- Anauxetic dysplasia 1 (RMRP)
- Aplastic anemia (NBN, PRF1)
- Ataxia-telangiectasia (ATM)
- Autoimmune lymphoproliferative syndrome (FAS)
- Autoimmune lymphoproliferative syndrome, type IA (FAS) 3
- BM failure syndrome, type AR [panelapp] (NBN)
- Bloom syndrome (BLM)
- Constitutional mismatch repair deficiency s., Lynch syndrome [panelapp] (MLH1, MSH2, MSH6, PMS2)
- Familial predisp to leukaemia, type AD [panelapp] (PRF1)
- Familial predisp to leukaemia, type AD [panelapp] (STAT3)
- Gaucher disease, type I, II, III, IIIC (GBA)
- Hemophagocytic lymphohistiocytosis, familial, 2 (PRF1)
- Hemophagocytic lymphohistiocytosis, familial, 3 (UNC13D)
- Hyper-IgE recurrent infection syndrome (STAT3)
- Hyper-IgE recurrent infection syndrome, AR (DOCK8)
- Increased risk of lymphoma [panelapp] (UNCD13)
- Increased susceptibility to malignancy [panelapp] (UNCD13)
- LIG4 syndrome (LIG4)
- Leukemia [panelapp] (BLM, RMRP)
- Leukemia, acute lymphoblastic (NBN)
- Lymphoma [panelapp] (BLM, DOCK8, FAS, LIG4, PRF1, SH2D3, WAS)
- Lymphoma, ALL, MDS, AML [panelapp] (BLM, MLH1, MSH2, MSH6, PMS2)
- Lymphoma, non-Hodgkin (PRF1)
- Lymphoproliferative disease [panelapp] (SH2D3)
- Lymphoproliferative syndrome 1 (ITK)
- Lymphoproliferative syndrome, XL, 1 (SH2D1A)
- MDS, AML, Lymphoma [panelapp] (WAS)
- Mismatch repair cancer syndrome 1 (MLH1)
- Mismatch repair cancer syndrome 2 (MSH2)
- Mismatch repair cancer syndrome 3 (MSH6)
- Mismatch repair cancer syndrome 4 (PMS2)
- Myeloma, lymphoma, hepatocellular carcinoma [panelapp] (GBA)
- Nijmegen breakage syndrome (NBN)
- Non-Hodgkin lymphoma [panelapp] (NBN)
- Non-hodgkin lymphoma [panelapp] (RMRP)
- Paediatric large granular lymphocytic leukaemia [panelapp] (STAT3)
- Predisposition to childhood anaplastic large cell lymphoma [panelapp] (UNCD13)
- Predisposition to leukemia [panelapp] (UNCD13)
- Risk of lymphoma [panelapp] (STXBP2)
- Various leukaemia [panelapp] (PRF1)
- Wiskott-Aldrich syndrome (WAS)
- AD
- AR
- Sus
- XLR
- Multiple OMIM-Ps
Bioinformatik und klinische Interpretation
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