thrombocytopenia
Conditions
Interventions
Groups with germline mutations:Tested by WES, no intervention
Control group:Patients with a clear diagnosis of ITP, no intervention.
Sponsors
The First Affiliated Hospital of Zhejiang Chinese Medical University (Zhejiang Provincial Hospital of Chinese Medicine)
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: (1) The study group was patients with a previous diagnosis of ITP and definite thrombocytopenia. (2) The presence of identified germline mutant genes [16,17] by whole-exome sequencing (WES) was mandatory (including FANCA, FANCB/FAAP95, FANCC, FANCD1/BRCA2, FANCD2, FANCE, FANCF, FANCG/XRCC9, FANCI, FANCJ/BRIP1, FANCL, FANCM, FANCN/PALB2, FANCO/RAD51C, FANCP/SLX4, FANCQ/ERCC4, FANCR/RAD51, FANCS/BRCA1, FANCT/UBE2T, FANCU/XRCC2, FANCV/REV7, FANCW/RFWD3 , MAD2L2, SPTAN1, NBN, FAAP20, FAAP100, RNF8, TINF2, PRDM8, SNORA56, MAGEA11, DNAJC21, SGK2, 1.5 SAMD9, MUS81, HELLS, ACD, EIF6, ZBTB32, H2AX, NDUFA1, fads2, poln, ctc1, gar1, pard6a, magea3, l3mbtl1, rps14, chek1, lmna, tubg1, rad50, tp53, terc, trub1, pfas, magea4, srp72, blm, casp3, vim, bhlhe40, RTEL1, WRAP53, CSF3, LINC00324, MAGEA5, ELANE, MRE11, IL3, DDX11, FAN1, ERCC1, NOP10, POT1, AP4B1, PRF1, GATA2, SNX5, HPRT1, FAAP24, SLX1B, UIMC1, DKC1 dclre1b, tnfsf6b, magea1, sbds, nip7, fen1, nek2, mlh1, wdr48, thpo, tert, csf2, nutm1, magea10, srp54, lgals9c, mpl, stat1, atm, lig4, usp1, dclre1a , DHFR, SNORA36A, RMND5B, MAGEA2, EFL1, RPS27L, ZNF276, IMMTP1, PARP1, HELQ, PARN, TRUB2, ARFRP1, MAGEA2B, AGO2, ARFIP2, PSAP, ERCC2, RAD18, FLT3, ATAD5, NHP2, CSF3R, KITLG, IRF1, SLX1A, EME1, USB1, GRHL2, RPL5, REV1, TOP1, DNA2, NPM1, SCD, CENPS, TP53BP1, WRN, TOPBP1, ZBTB16, and ATRIP) patients. (3) Efficacy did not reach complete remission (CR) after multiple lines of treatment; and (4) The control group was patients with a clear diagnosis of ITP and effective first-line treatment for ITP. (5) Attended Zhejiang Provincial Hospital of Traditional Chinese Medicine from August 2018 to September 2023.
Exclusion criteria
Exclusion criteria: (1) Those with other known causes of thrombocytopenia (e.g., secondary thrombocytopenia due to drugs, infections, etc.); (2) Those with comorbid severe systemic diseases that may affect study results (e.g., autoimmune diseases, malignant tumors, etc.). (3) Presence of other genetic lesions: exclude other known genetic mutations or genetic diseases. (4) Incomplete clinical information: exclude patients who lack the necessary clinical information or who are unable to provide sufficient information for accurate analysis. (5) Patients who refuse follow-up;
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| routine blood test;response sustained time ;blood score; | — |
Secondary
| Measure | Time frame |
|---|---|
| lymphocyte subset;Immunity-related indicators;CD34 in Bone marrow ; | — |
Countries
China
Contacts
Public ContactDijiong Wu
The First Affiliated Hospital of Zhejiang Chinese Medical University (Zhejiang Provincial Hospital of Chinese Medicine
Outcome results
None listed