MCID: RCH001
MIFTS: 49

Richter's Syndrome

Categories: Rare diseases, Cancer diseases, Immune diseases, Blood diseases

Aliases & Classifications for Richter's Syndrome

MalaCards integrated aliases for Richter's Syndrome:

Name: Richter's Syndrome 12 14 69
Richter Syndrome 12 72 49
Richter Transformation 49

Classifications:



External Ids:

Disease Ontology 12 DOID:1703
ICD10 32 C91.1
NCIt 46 C35424
SNOMED-CT 64 277550009
UMLS 69 C0349631

Summaries for Richter's Syndrome

NIH Rare Diseases : 49 Richter syndrome is a rare condition in which chronic lymphocytic leukemia (CLL) changes into a fast-growing type of lymphoma. Symptoms of Richter syndrome can include fever, loss of weight and muscle mass, abdominal pain, and enlargement of the lymph nodes, liver, and spleen. Laboratory results may show anemia and low platelet counts (which can lead to easy bleeding and bruising). Last updated: 1/3/2014

MalaCards based summary : Richter's Syndrome, also known as richter syndrome, is related to plasmablastic lymphoma and b-cell lymphomas. An important gene associated with Richter's Syndrome is CD5 (CD5 Molecule), and among its related pathways/superpathways are Apoptosis Modulation and Signaling and Gastric cancer. The drugs Cyclophosphamide and Doxorubicin have been mentioned in the context of this disorder. Affiliated tissues include b cells, lymph node and liver, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and Synthetic lethal with MLN4924 (a NAE inhibitor)

Wikipedia : 72 Richter\'s syndrome (RS), also known as Richter\'s transformation, is a transformation of B cell chronic... more...

Related Diseases for Richter's Syndrome

Diseases related to Richter's Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 59)
# Related Disease Score Top Affiliating Genes
1 plasmablastic lymphoma 30.0 CD38 NOTCH1
2 b-cell lymphomas 30.0 CD5 IRF4 MYC TP53
3 diffuse large b-cell lymphoma 29.9 CD5 IRF4 MYC TP53
4 follicular lymphoma 29.7 CD5 IRF4 MYC
5 prolymphocytic leukemia 29.3 ATM CD38 CD5 MYC
6 mantle cell lymphoma 29.2 ATM CD5 MYC TP53
7 leukemia, chronic lymphocytic 29.0 ATM BCR CD38 CD5 NOTCH1 TP53
8 kotzot-richter syndrome 12.0
9 colon lymphoma 10.4 CD5 IRF4
10 splenic diffuse red pulp small b-cell lymphoma 10.3 NOTCH1 TP53
11 tetraploidy 10.3 NOTCH1 TP53
12 plasma protein metabolism disease 10.3 CD38 CD5
13 invasive bladder transitional cell carcinoma 10.3 NOTCH1 TP53
14 leukemia, chronic lymphocytic 2 10.3
15 leukemia 10.3
16 leukemia, b-cell, chronic 10.3
17 bone squamous cell carcinoma 10.3 NOTCH1 TP53
18 adult lymphoma 10.3 CD5 MYC
19 epidural neoplasm 10.3 CD5 TP53
20 megaesophagus 10.3 MYC TP53
21 primary effusion lymphoma 10.3 IRF4 MYC
22 synchronous bilateral breast carcinoma 10.3 ATM TP53
23 necrotizing sialometaplasia 10.3 CD5 TP53
24 suppressor of tumorigenicity 3 10.2 MYC TP53
25 uterine corpus cancer 10.2 MYC TP53
26 spinal cord astrocytoma 10.2 NOTCH1 TP53
27 lymphatic system cancer 10.2 CD5 MYC
28 anal squamous cell carcinoma 10.2 MLH1 TP53
29 lymphoma 10.2
30 plasma cell neoplasm 10.1 CD38 MYC
31 mature b-cell neoplasm 10.1 CD38 MYC TP53
32 myxosarcoma 10.1 ATM TP53
33 acquired immunodeficiency syndrome 10.1 CD38 MYC TP53
34 cerebral primitive neuroectodermal tumor 10.1 MYC TP53
35 cryoglobulinemia, familial mixed 10.0 BCR CD5
36 lymphoid leukemia 10.0 BCR CD5
37 medullomyoblastoma 10.0 MYC TP53
38 wilms tumor 1 10.0 MYC NOTCH1 TP53
39 female reproductive organ cancer 10.0 MLH1 MYC TP53
40 reproductive organ cancer 9.9 MLH1 MYC TP53
41 gastrointestinal system cancer 9.9 MLH1 MYC TP53
42 familial adenomatous polyposis 9.9 MLH1 MYC TP53
43 li-fraumeni syndrome 9.9 ATM MLH1 TP53
44 cervical cancer 9.9 MYC NOTCH1 TP53
45 b cell prolymphocytic leukemia 9.9 CD38 CD5 MYC TP53
46 myeloma, multiple 9.9 CD38 IRF4 MYC TP53
47 cll/sll 9.9 ATM CD38 CD5 TP53
48 familial colorectal cancer 9.9 MLH1 TP53
49 b-cell expansion with nfkb and t-cell anergy 9.8 BCR CD38 CD5
50 acute lymphocytic leukemia 9.7 BCR NOTCH1 TP53

Graphical network of the top 20 diseases related to Richter's Syndrome:



Diseases related to Richter's Syndrome

Symptoms & Phenotypes for Richter's Syndrome

GenomeRNAi Phenotypes related to Richter's Syndrome according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.32 ATM ESPL1 MLH1 TP53
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.32 ATM CD38 ESPL1 MLH1 MYC TP53

MGI Mouse Phenotypes related to Richter's Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.03 NOTCH1 ESPL1 TP53 ATM MLH1 BCR
2 hematopoietic system MP:0005397 9.97 CD5 NOTCH1 ESPL1 TP53 IRF4 ATM
3 immune system MP:0005387 9.96 CPT2 ESPL1 TP53 IRF4 ATM MYC
4 endocrine/exocrine gland MP:0005379 9.91 NOTCH1 ESPL1 TP53 ATM MLH1 MYC
5 embryo MP:0005380 9.88 TP53 NOTCH1 CPT2 ESPL1 ATM MYC
6 integument MP:0010771 9.63 TP53 CD5 NOTCH1 MLH1 ATM MYC
7 neoplasm MP:0002006 9.5 NOTCH1 ESPL1 TP53 IRF4 ATM MLH1
8 normal MP:0002873 9.1 TP53 CD5 CPT2 NOTCH1 BCR MYC

Drugs & Therapeutics for Richter's Syndrome

Drugs for Richter's Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 65)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
2
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
3
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
4
Vincristine Approved, Investigational Phase 2 2068-78-2, 57-22-7 5978
5
Cytarabine Approved, Investigational Phase 1, Phase 2 147-94-4 6253
6
Fludarabine Approved Phase 1, Phase 2 21679-14-1, 75607-67-9 30751
7
Oxaliplatin Approved, Investigational Phase 1, Phase 2 61825-94-3 43805 6857599 5310940 9887054
8
rituximab Approved Phase 1, Phase 2 174722-31-7 10201696
9
Vidarabine Approved, Investigational Phase 1, Phase 2 24356-66-9 21704 32326
10
Lenalidomide Approved Phase 2,Phase 1 191732-72-6 216326
11
Etoposide Approved Phase 2 33419-42-0 36462
12
Obinutuzumab Approved, Investigational Phase 2,Phase 1 949142-50-1
13
Blinatumomab Approved, Investigational Phase 2 853426-35-4
14
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
15
Pembrolizumab Approved Phase 1, Phase 2 1374853-91-4
16
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177
17
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 46835353 6436030 5284616
18
Idelalisib Approved Phase 2 870281-82-6
19
nivolumab Approved Phase 1, Phase 2 946414-94-4
20
Asparaginase Approved, Investigational Phase 2 9015-68-3
21
Azacitidine Approved, Investigational Phase 2 320-67-2 9444
22
Doxil Approved June 1999 Phase 2 31703
23 Antibodies Phase 2,Phase 1
24 Antibodies, Monoclonal Phase 2,Phase 1
25 Immunoglobulins Phase 2,Phase 1
26 Anti-Infective Agents Phase 1, Phase 2
27 Antimetabolites Phase 1, Phase 2
28 Antimetabolites, Antineoplastic Phase 1, Phase 2
29 Antirheumatic Agents Phase 1, Phase 2
30 Antiviral Agents Phase 1, Phase 2
31 Immunosuppressive Agents Phase 1, Phase 2
32 Alkylating Agents Phase 2
33 Anti-Bacterial Agents Phase 2,Phase 1
34 Antibiotics, Antitubercular Phase 2
35 Anti-Inflammatory Agents Phase 2,Phase 1
36 Antimitotic Agents Phase 2
37 Antineoplastic Agents, Hormonal Phase 2,Phase 1
38 Antineoplastic Agents, Phytogenic Phase 2
39 glucocorticoids Phase 2,Phase 1
40 Hormone Antagonists Phase 2,Phase 1
41 Hormones Phase 2,Phase 1
42 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2,Phase 1
43 Topoisomerase Inhibitors Phase 2
44 Angiogenesis Inhibitors Phase 2,Phase 1
45 Angiogenesis Modulating Agents Phase 2,Phase 1
46 Etoposide phosphate Phase 2
47 Antibodies, Bispecific Phase 2
48 Antiemetics Phase 2,Phase 1
49 Autonomic Agents Phase 2,Phase 1
50 BB 1101 Phase 2

Interventional clinical trials:

(show all 35)

# Name Status NCT ID Phase Drugs
1 Elevate CLL R/R: Study of Acalabrutinib (ACP-196) Versus Ibrutinib in Previously Treated Subjects With High Risk Chronic Lymphocytic Leukemia Active, not recruiting NCT02477696 Phase 3 ACP-196;ibrutinib
2 Study of Cyclophosphamide, Hydroxydaunorubicin, Oncovin, Prednisone (CHOP) With Ofatumumab in Patients With Richter's Syndrome Unknown status NCT01171378 Phase 2 Ofatumumab
3 VNP40101M in Treating Patients With Richter Syndrome or Refractory or Relapsed Chronic Lymphocytic Leukemia or Other Lymphoproliferative Disorders Completed NCT00304005 Phase 1, Phase 2 laromustine
4 Oxaliplatin, Fludarabine, Cytarabine, and Rituximab in Patients With Richter's Transformation and Leukemias Completed NCT00472849 Phase 1, Phase 2 Oxaliplatin;Fludarabine;Cytarabine;Rituximab;Pegfilgrastim
5 Oxaliplatin, Fludarabine, Cytarabine and Rituximab in Richter's Syndrome, Refractory CLL and PLL Completed NCT00452374 Phase 1, Phase 2 Cytarabine;Fludarabine;Oxaliplatin;Rituximab
6 Combination Chemotherapy and Rituximab in Treating Patients With Chronic Lymphocytic Leukemia (CLL) That Did Not Respond to Fludarabine, CLL With Autoimmune Haemolytic Anemia (AIHA) or Richter's Transformation (RT) Completed NCT00309881 Phase 2 cyclophosphamide;doxorubicin hydrochloride;prednisone;vincristine sulfate
7 Efficacy and Safety Study of PCI-32765 Combine With Ofatumumab in CLL Completed NCT01217749 Phase 1, Phase 2 PCI-32765;ofatumumab
8 A Phase II Study of Venetoclax in Combination With Dose-adjusted EPOCH-R for Patients With Richter's Syndrome Recruiting NCT03054896 Phase 2 Venetoclax
9 Study of Ibrutinib & Obinutuzumab With/Without CHOP for Richter's Transformation or Richter's Syndrome Patients Recruiting NCT03145480 Phase 2 Obinutuzumab;Ibrutinib
10 Study of Blinatumomab in Richter Transformation Recruiting NCT03121534 Phase 2 Blinatumomab;Dexamethasone
11 Obinutuzumab Containing Conditioning Regimen for Patients With Poor Risk CLL or Richter`s Transformation Requiring Allogeneic Stem Cell Transplantation Recruiting NCT03153514 Phase 2
12 Study of Pembrolizumab in Combination With Ublituximab and TGR-1202 in Patients With Relapsed-refractory CLL or Richter's Transformation Recruiting NCT02535286 Phase 1, Phase 2 Pembrolizumab;TGR-1202
13 A Study of Acalabrutinib and Vistusertib in Subjects With Relapsed/Refractory B-cell Malignancies Recruiting NCT03205046 Phase 1, Phase 2 acalabrutinib;vistusertib
14 Pembrolizumab Alone or With Idelalisib or Ibrutinib in Treating Patients With Relapsed or Refractory Chronic Lymphocytic Leukemia or Other Low-Grade B-Cell Non-Hodgkin Lymphomas Recruiting NCT02332980 Phase 2 Ibrutinib;Idelalisib
15 Entospletinib and Obinutuzumab in Treating Patients With Relapsed Chronic Lymphocytic Leukemia, Small Lymphocytic Lymphoma, or Non-Hodgkin Lymphoma Recruiting NCT03010358 Phase 1, Phase 2 Entospletinib
16 Trial of Ibrutinib Plus Venetoclax Plus Obinutuzumab in Patients With CLL Recruiting NCT02758665 Phase 2 ibrutinib;obinutuzumab;venetoclax
17 Study of Pembrolizumab (MK-3475) in Participants With Relapsed or Refractory Primary Mediastinal Large B-cell Lymphoma or Relapsed or Refractory Richter Syndrome (MK-3475-170/KEYNOTE-170) Active, not recruiting NCT02576990 Phase 2
18 ACP-196 (Acalabrutinib), a Novel Bruton Tyrosine Kinase (Btk) Inhibitor, for Treatment of Chronic Lymphocytic Leukemia Active, not recruiting NCT02029443 Phase 1, Phase 2 acalabrutinib
19 A Study to Evaluate Safety, Pharmacokinetics, Pharmacodynamics and Preliminary Efficacy of the Combination of Ibrutinib With Nivolumab in Participants With Hematologic Malignancies Active, not recruiting NCT02329847 Phase 1, Phase 2 Ibrutinib;Nivolumab
20 ACP-196 (Acalabrutinib) in Combination With Pembrolizumab, for Treatment of Hematologic Malignancies Active, not recruiting NCT02362035 Phase 1, Phase 2 Acalabrutinib;Pembrolizumab
21 Phase II Study of Fludarabine, Cytarabine (ARA-C) and Erwinase IV in Patients With Relapsed or Refractory Hematologic Malignancies Not yet recruiting NCT02718755 Phase 2 Fludarabine;Cytarabine;Erwinase
22 Phase II MOR00208 in Combination With Lenalidomide for Patients With Relapsed or Refractory CLL, SLL or PLL or Older Patients With Untreated CLL, SLL or PLL Suspended NCT02005289 Phase 2 lenalidomide
23 Selinexor in Initial or Relapsed/Refractory Richter's Transformation Terminated NCT02138786 Phase 2 selinexor
24 PNT2258 for Treatment of Patients With Richter's Transformation (Brighton) Terminated NCT02378038 Phase 2 PNT2258
25 5-Azacytidine (Azacytidine; Vidaza) in Chronic Lymphocytic Leukemia Terminated NCT00413478 Phase 2 5-Azacytidine
26 Sotrastaurin Acetate in Treating Patients With Relapsed or Refractory Chronic Lymphocytic Leukemia, Small Lymphocytic Leukemia, Prolymphocytic Leukemia, or Richter's Transformation Withdrawn NCT02285244 Phase 2 sotrastaurin acetate
27 Lenalidomide After Donor Bone Marrow Transplant in Treating Patients With High-Risk Hematologic Cancers Completed NCT01254578 Phase 1 Lenalidomide
28 Obinutuzumab, High Dose Methylprednisolone (HDMP), and Lenalidomide for the Treatment of Patients With Richter's Syndrome Recruiting NCT03113695 Phase 1 Obinutuzumab;lenalidomide;HDMP
29 Study to Assess Safety, Tolerability, Pharmacokinetics and Antitumor Activity of AZD4573 in Relapsed/Refractory Haematological Malignancies Recruiting NCT03263637 Phase 1 AZD4573
30 Study of AZD5991 in Relapsed or Refractory Haematologic Malignancies. Recruiting NCT03218683 Phase 1 AZD5991;AZD5991;AZD5991;AZD5991;AZD5991
31 Study to Evaluate Safety and Tolerability of XmAb13676 in Patients With CD20-expressing Hematologic Malignancies Recruiting NCT02924402 Phase 1
32 Phase 1 Study Evaluating ZEN003365 in Relapsed/Refractory Lymphoproliferative Malignancies or Relapsed/Refractory AML Withdrawn NCT02238522 Phase 1 ZEN003365
33 Registry of the German CLL Study Group Recruiting NCT02863692
34 Identification of Biomarkers That Are Predictive of Early Ibrutinib Treatment Failure in High Risk TP53 Mutated Chronic Lymphocytic Leukemia Recruiting NCT02827617 Ibrutinib
35 Clinical-biological Characteristics and Outcome of Chronic Lymphocytic Leukemia Under Ibrutinib-named Patient Program Recruiting NCT02582320 Ibrutinib

Search NIH Clinical Center for Richter's Syndrome

Genetic Tests for Richter's Syndrome

Anatomical Context for Richter's Syndrome

MalaCards organs/tissues related to Richter's Syndrome:

38
B Cells, Lymph Node, Liver, Myeloid, Spleen, Bone, Bone Marrow

Publications for Richter's Syndrome

Articles related to Richter's Syndrome:

(show top 50) (show all 140)
# Title Authors Year
1
Intravascular large B-cell lymphoma presenting as Richter's syndrome with cerebral involvement in a patient with chronic lymphocytic leukemia. ( 28878900 )
2017
2
Treatment of Richter's Syndrome. ( 29159711 )
2017
3
Peripheral T-Cell Lymphoma of the Submandibular Salivary Gland as an Unusual Manifestation of Richter's Syndrome: A Case Report and Literature Review. ( 29410924 )
2017
4
Ibrutinib-induced rapid response in chemotherapy-refractory Richter's syndrome. ( 28681549 )
2017
5
Richter's Syndrome with Hypercalcemia Induced by Tumor-Associated Production of Parathyroid Hormone-Related Peptide. ( 28203174 )
2017
6
Diagnostic dilemmas of high-grade transformation (Richter's syndrome) of chronic lymphocytic leukaemia: results of the phase II National Cancer Research Institute CHOP-OR clinical trial specialist haemato-pathology central review. ( 27345622 )
2016
7
Richter's syndrome: Novel and promising therapeutic alternatives. ( 27742070 )
2016
8
EBV-positive Richter's syndrome with laboratory features of Burkitt's lymphoma, in Ibrutinib-treated chronic lymphocytic leukemia. ( 27852142 )
2016
9
Ibrutinib has some activity in Richter's syndrome. ( 25635530 )
2015
10
Single arm NCRI phase II study of CHOP in combination with Ofatumumab in induction and maintenance for patients with newly diagnosed Richter's syndrome. ( 25775024 )
2015
11
An 18F-FDG-PET maximum standardized uptake value >10 represents a novel valid marker for discerning Richter's Syndrome. ( 26402256 )
2015
12
Chronic lymphocytic leukemia transformation into high-grade lymphoma: a description of Richter's syndrome in eight dogs. ( 26463596 )
2015
13
Hemophagocytic Lymphohistiocytosis With Cerebral Involvement in Richter's Syndrome. ( 25534389 )
2014
14
Testicular swelling: a rare manifestation of chronic lymphocytic leukemia presenting with Richter's syndrome. ( 24739853 )
2014
15
Cutaneous Richter's syndrome: A better place to transform? ( 24935194 )
2014
16
Platinum and high-dose cytarabine-based regimens are efficient in ultra high/high-risk chronic lymphocytic leukemia and Richter's syndrome: results of a French retrospective multicenter study. ( 25359318 )
2014
17
Richter's syndrome: Utility of A^a8,F-FDG PET/CT. ( 23044071 )
2013
18
Richter's syndrome in colon: case report. ( 21057893 )
2012
19
Richter's syndrome: CLL taking a turn for the worse. ( 23413593 )
2012
20
Autologous and allogeneic stem-cell transplantation for transformed chronic lymphocytic leukemia (Richter's syndrome): A retrospective analysis from the chronic lymphocytic leukemia subcommittee of the chronic leukemia working party and lymphoma working party of the European Group for Blood and Marrow Transplantation. ( 22547610 )
2012
21
Richter's syndrome with aberrant CD2 and CD4 expression. ( 22649134 )
2012
22
Richter's syndrome of the brain and the spinal cord. ( 20587487 )
2011
23
MDR-1 gene polymorphisms G2677T and C3435T in a case of Hodgkin's variant of Richter's syndrome. ( 22866091 )
2011
24
Cutaneous Richter's syndrome, prognosis, and clinical, histological and immunohistological patterns: report of four cases and review of the literature. ( 20145381 )
2010
25
Haemophagocytic syndrome and Hodgkin's disease variant of Richter's syndrome after fludarabine for CLL. ( 20331737 )
2010
26
Hodgkin's lymphoma variant of Richter's syndrome. ( 20437646 )
2010
27
Genomic profiling of Richter's syndrome: recurrent lesions and differences with de novo diffuse large B-cell lymphomas. ( 20014148 )
2010
28
Intrathecal liposomal cytarabine for treatment of leptomeningeal involvement in transformed (Richter's syndrome) and non-transformed B-cell chronic lymphocytic leukaemia in Spain: a report of seven cases. ( 20487439 )
2010
29
Telomere length is an independent predictor of survival, treatment requirement and Richter's syndrome transformation in chronic lymphocytic leukemia. ( 19340005 )
2009
30
Richter's syndrome developing in a patient with adult onset Still's disease. ( 18607590 )
2009
31
Richter's syndrome: a case report. ( 19204436 )
2009
32
Phase I-II study of oxaliplatin, fludarabine, cytarabine, and rituximab combination therapy in patients with Richter's syndrome or fludarabine-refractory chronic lymphocytic leukemia. ( 18182662 )
2008
33
[Clonality analysis and mutation status of IgVH genes in classic Richter's syndrome]. ( 19031714 )
2008
34
Recent advances in the diagnosis and therapy of Richter's syndrome. ( 17673808 )
2007
35
Primary effusion lymphoma presenting as Richter's syndrome. ( 17573910 )
2007
36
Clinical outcomes and prognostic factors in patients with Richter's syndrome treated with chemotherapy or chemoimmunotherapy with or without stem-cell transplantation. ( 16710033 )
2006
37
Chronic lymphocytic leukemia with osteolytic Richter's syndrome mimicking myeloma bone disease shows no over-expression of DKK1. ( 17065022 )
2006
38
Hodgkin's disease variant of Richter's syndrome clonally related to chronic lymphocytic leukemia arises in ZAP-70 negative mutated CLL. ( 16223567 )
2006
39
EBV negative Richter's syndrome from a coexistent clone after salvage treatment with alemtuzumab in a CLL patient. ( 16838338 )
2006
40
Cat scratch disease mimicking Richter's Syndrome in a patient with chronic lymphocytic leukemia. ( 15621836 )
2005
41
Unusual sites of malignancies: CASE 2. Central neurogenic hyperventilation as a complication of Richter's syndrome. ( 15774798 )
2005
42
Hodgkin's disease variant of Richter's syndrome in chronic lymphocytic leukaemia patients previously treated with fludarabine. ( 15813847 )
2005
43
Richter's syndrome: biology and therapy. ( 16053658 )
2005
44
[Isolated Richter's syndrome in central nervous system: case report]. ( 16059612 )
2005
45
Richter's syndrome--the downside of fludarabine? ( 16111529 )
2005
46
Second malignancies and Richter's syndrome in patients with chronic lymphocytic leukemia. ( 15763979 )
2004
47
Second malignancies and Richter's syndrome in patients with chronic lymphocytic leukaemia treated with cladribine. ( 14746857 )
2004
48
Secondary follicular lymphoma of the bone, transformed into large cell lymphoma, in a patient with chronic lymphocytic leukaemia: an uncommon manifestation of Richter's syndrome. ( 14962241 )
2004
49
Richter's syndrome in the brain first manifested as an ischaemic stroke. ( 15360010 )
2004
50
Relationship between the mutational status of VH genes and pathogenesis of diffuse large B-cell lymphoma in Richter's syndrome. ( 14671632 )
2004

Variations for Richter's Syndrome

Cosmic variations for Richter's Syndrome:

9 (show top 50) (show all 136)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM10654 TP53 haematopoietic and lymphoid tissue,lymph node,lymphoid neoplasm,diffuse large B cell lymphoma c.637C>T p.R213* 2
2 COSM43956 TP53 haematopoietic and lymphoid tissue,lymph node,lymphoid neoplasm,diffuse large B cell lymphoma c.700T>A p.Y234N 2
3 COSM10656 TP53 haematopoietic and lymphoid tissue,lymph node,lymphoid neoplasm,diffuse large B cell lymphoma c.742C>T p.R248W 2
4 COSM43848 TP53 haematopoietic and lymphoid tissue,lymph node,lymphoid neoplasm,diffuse large B cell lymphoma c.472C>T p.R158C 2
5 COSM10834 TP53 haematopoietic and lymphoid tissue,lymph node,lymphoid neoplasm,diffuse large B cell lymphoma c.711G>A p.M237I 2
6 COSM10662 TP53 haematopoietic and lymphoid tissue,lymph node,lymphoid neoplasm,diffuse large B cell lymphoma c.743G>A p.R248Q 2
7 COSM43833 TP53 haematopoietic and lymphoid tissue,lymph node,lymphoid neoplasm,diffuse large B cell lymphoma c.578A>C p.H193P 2
8 COSM44692 TP53 haematopoietic and lymphoid tissue,lymph node,lymphoid neoplasm,diffuse large B cell lymphoma c.526T>G p.C176G 2
9 COSM45626 TP53 haematopoietic and lymphoid tissue,lymph node,lymphoid neoplasm,diffuse large B cell lymphoma c.501G>T p.Q167H 2
10 COSM45773 TP53 haematopoietic and lymphoid tissue,lymph node,lymphoid neoplasm,diffuse large B cell lymphoma c.583A>C p.I195L 2
11 COSM43901 TP53 haematopoietic and lymphoid tissue,lymph node,lymphoid neoplasm,diffuse large B cell lymphoma c.421T>C p.C141R 2
12 COSM11564 TP53 haematopoietic and lymphoid tissue,lymph node,lymphoid neoplasm,diffuse large B cell lymphoma c.742C>G p.R248G 2
13 COSM11059 TP53 haematopoietic and lymphoid tissue,lymph node,lymphoid neoplasm,diffuse large B cell lymphoma c.713G>A p.C238Y 2
14 COSM45780 TP53 haematopoietic and lymphoid tissue,lymph node,lymphoid neoplasm,diffuse large B cell lymphoma c.429G>T p.V143V 2
15 COSM44463 TP53 haematopoietic and lymphoid tissue,lymph node,lymphoid neoplasm,diffuse large B cell lymphoma c.848G>T p.R283L 2
16 COSM10991 TP53 haematopoietic and lymphoid tissue,lymph node,lymphoid neoplasm,diffuse large B cell lymphoma c.396G>T p.K132N 2
17 COSM10659 TP53 haematopoietic and lymphoid tissue,lymph node,lymphoid neoplasm,diffuse large B cell lymphoma c.817C>T p.R273C 2
18 COSM43967 TP53 haematopoietic and lymphoid tissue,lymph node,lymphoid neoplasm,diffuse large B cell lymphoma c.751A>T p.I251F 2
19 COSM43684 TP53 haematopoietic and lymphoid tissue,lymph node,lymphoid neoplasm,diffuse large B cell lymphoma c.720T>G p.S240R 2
20 COSM10777 TP53 haematopoietic and lymphoid tissue,lymph node,lymphoid neoplasm,diffuse large B cell lymphoma c.715A>G p.N239D 2
21 COSM43733 TP53 haematopoietic and lymphoid tissue,lymph node,lymphoid neoplasm,diffuse large B cell lymphoma c.777C>T p.D259D 2
22 COSM10648 TP53 haematopoietic and lymphoid tissue,lymph node,lymphoid neoplasm,diffuse large B cell lymphoma c.524G>A p.R175H 2
23 COSM43842 TP53 haematopoietic and lymphoid tissue,lymph node,lymphoid neoplasm,diffuse large B cell lymphoma c.770T>C p.L257P 2
24 COSM10742 TP53 haematopoietic and lymphoid tissue,lymph node,lymphoid neoplasm,diffuse large B cell lymphoma c.578A>G p.H193R 2
25 COSM44327 TP53 haematopoietic and lymphoid tissue,lymph node,lymphoid neoplasm,diffuse large B cell lymphoma c.518T>C p.V173A 2
26 COSM43947 TP53 haematopoietic and lymphoid tissue,lymph node,lymphoid neoplasm,diffuse large B cell lymphoma c.614A>G p.Y205C 2
27 COSM10758 TP53 haematopoietic and lymphoid tissue,lymph node,lymphoid neoplasm,diffuse large B cell lymphoma c.659A>G p.Y220C 2
28 COSM43936 TP53 haematopoietic and lymphoid tissue,lymph node,lymphoid neoplasm,diffuse large B cell lymphoma c.857A>T p.E286V 2
29 COSM6932 TP53 haematopoietic and lymphoid tissue,lymph node,lymphoid neoplasm,diffuse large B cell lymphoma c.733G>A p.G245S 2
30 COSM43970 TP53 haematopoietic and lymphoid tissue,lymph node,lymphoid neoplasm,diffuse large B cell lymphoma c.380C>A p.S127Y 2
31 COSM45416 TP53 haematopoietic and lymphoid tissue,lymph node,lymphoid neoplasm,diffuse large B cell lymphoma c.524G>C p.R175P 2
32 COSM10687 TP53 haematopoietic and lymphoid tissue,lymph node,lymphoid neoplasm,diffuse large B cell lymphoma c.527G>A p.C176Y 2
33 COSM10690 TP53 haematopoietic and lymphoid tissue,lymph node,lymphoid neoplasm,diffuse large B cell lymphoma c.473G>A p.R158H 2
34 COSM44948 TP53 haematopoietic and lymphoid tissue,lymph node,lymphoid neoplasm,diffuse large B cell lymphoma c.526T>C p.C176R 2
35 COSM45627 TP53 haematopoietic and lymphoid tissue,lymph node,lymphoid neoplasm,diffuse large B cell lymphoma c.486C>T p.I162I 2
36 COSM10996 TP53 haematopoietic and lymphoid tissue,lymph node,lymphoid neoplasm,diffuse large B cell lymphoma c.511G>T p.E171* 2
37 COSM10813 TP53 haematopoietic and lymphoid tissue,lymph node,lymphoid neoplasm,diffuse large B cell lymphoma c.394A>G p.K132E 2
38 COSM44338 TP53 haematopoietic and lymphoid tissue,lymph node,lymphoid neoplasm,diffuse large B cell lymphoma c.845G>A p.R282Q 2
39 COSM11196 TP53 haematopoietic and lymphoid tissue,lymph node,lymphoid neoplasm,diffuse large B cell lymphoma c.734G>T p.G245V 2
40 COSM44821 TP53 haematopoietic and lymphoid tissue,lymph node,lymphoid neoplasm,diffuse large B cell lymphoma c.412G>A p.A138T 2
41 COSM43899 TP53 haematopoietic and lymphoid tissue,lymph node,lymphoid neoplasm,diffuse large B cell lymphoma c.434T>C p.L145P 2
42 COSM11287 TP53 haematopoietic and lymphoid tissue,lymph node,lymphoid neoplasm,diffuse large B cell lymphoma c.839G>T p.R280I 2
43 COSM44171 TP53 haematopoietic and lymphoid tissue,lymph node,lymphoid neoplasm,diffuse large B cell lymphoma c.840A>T p.R280S 2
44 COSM43850 TP53 haematopoietic and lymphoid tissue,lymph node,lymphoid neoplasm,diffuse large B cell lymphoma c.659A>C p.Y220S 2
45 COSM43559 TP53 haematopoietic and lymphoid tissue,lymph node,lymphoid neoplasm,diffuse large B cell lymphoma c.517G>T p.V173L 2
46 COSM10704 TP53 haematopoietic and lymphoid tissue,lymph node,lymphoid neoplasm,diffuse large B cell lymphoma c.844C>T p.R282W 2
47 COSM43896 TP53 haematopoietic and lymphoid tissue,lymph node,lymphoid neoplasm,diffuse large B cell lymphoma c.818G>C p.R273P 2
48 COSM10647 TP53 haematopoietic and lymphoid tissue,lymph node,lymphoid neoplasm,diffuse large B cell lymphoma c.404G>T p.C135F 2
49 COSM43903 TP53 haematopoietic and lymphoid tissue,lymph node,lymphoid neoplasm,diffuse large B cell lymphoma c.470T>G p.V157G 2
50 COSM44535 TP53 haematopoietic and lymphoid tissue,lymph node,lymphoid neoplasm,diffuse large B cell lymphoma c.761T>A p.I254N 2

Expression for Richter's Syndrome

Search GEO for disease gene expression data for Richter's Syndrome.

Pathways for Richter's Syndrome

Pathways related to Richter's Syndrome according to GeneCards Suite gene sharing:

(show all 30)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.61 ATM IRF4 MYC TP53
2
Show member pathways
12.53 MLH1 MYC NOTCH1 TP53
3 12.49 BCR MLH1 MYC NOTCH1 TP53
4 12.23 ATM MYC NOTCH1 TP53
5 12.12 CD38 MYC TP53
6 12.06 ATM MYC TP53
7 12.06 ATM ESPL1 MYC TP53
8 11.99 MLH1 MYC TP53
9 11.97 ATM MYC TP53
10 11.94 ATM MYC TP53
11
Show member pathways
11.92 BCR MYC TP53
12 11.83 ATM MLH1 TP53
13 11.76 CD38 CD5 NOTCH1
14 11.75 MYC NOTCH1 TP53
15 11.73 ATM MYC TP53
16 11.71 IRF4 MYC TP53
17 11.47 ATM MLH1 TP53
18 11.2 ATM MYC TP53
19 11.17 MYC TP53
20 11.15 ATM TP53
21 11.14 ATM MLH1
22 11.1 ATM MYC TP53
23 11.09 ATM TP53
24 11.07 MYC TP53
25 11.03 CPT2 MYC
26 10.98 ATM MYC TP53
27 10.93 MYC TP53
28 10.83 ATM TP53
29 10.74 ATM MYC NOTCH1 TP53
30
Show member pathways
10.47 ATM MYC TP53

GO Terms for Richter's Syndrome

Biological processes related to Richter's Syndrome according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.73 ATM MLH1 MYC TP53
2 response to gamma radiation GO:0010332 9.54 MYC TP53
3 negative regulation of fibroblast proliferation GO:0048147 9.52 MYC TP53
4 reciprocal meiotic recombination GO:0007131 9.51 ATM MLH1
5 male meiotic nuclear division GO:0007140 9.49 ATM MLH1
6 positive regulation of DNA binding GO:0043388 9.48 IRF4 MYC
7 cellular response to gamma radiation GO:0071480 9.46 ATM TP53
8 determination of adult lifespan GO:0008340 9.4 ATM TP53
9 replicative senescence GO:0090399 9.37 ATM TP53
10 positive regulation of transcription, DNA-templated GO:0045893 9.35 CD38 IRF4 MYC NOTCH1 TP53
11 positive regulation of response to DNA damage stimulus GO:2001022 9.32 ATM MYC
12 meiotic telomere clustering GO:0045141 9.26 ATM MLH1
13 homologous chromosome segregation GO:0045143 9.16 ESPL1 MLH1
14 cell cycle arrest GO:0007050 8.92 ATM MYC NOTCH1 TP53

Molecular functions related to Richter's Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 8.92 IRF4 MYC NOTCH1 TP53

Sources for Richter's Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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