Details of Disease

General Information of Disease (ID: DISBX2TK)

Disease Name	Richter syndrome
Synonyms	Richter's transformation; Richter's syndrome; Richter transformation; Richter syndrome
Disease Class	2A81: Diffuse large B-cell lymphoma
Definition	Transformation of chronic lymphocytic leukemia into aggressive non-Hodgkin's lymphoma, usually diffuse large B-cell lymphoma (immunoblastic or centroblastic variant). Occasional cases of transformation to Hodgkin's lymphoma have also been described, particularly in patients treated with purine nucleotide analogs. Molecular genetic studies suggest that in approximately half of the cases, the lymphoma is clonally related to the underlying chronic lymphocytic leukemia, whereas in the remaining cases the lymphoma probably represents a secondary, unrelated neoplasm.
Disease Hierarchy	DIS9RZ96: Neoplastic syndrome DISNN3PL: Secondary neoplasm DISBX2TK: Richter syndrome
ICD Code	ICD-11 ICD-11: 2A81.Y
Disease Identifiers	MONDO ID MONDO_0002083 UMLS CUI C0349631 MedGen ID 91159 SNOMED CT ID 277550009

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Lisocabtagene maraleucel	DMP45ME	Approved	CAR T Cell Therapy	[1]
------------------------------------------------------------------------------------

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 6 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CD52	TTQT5S9	Limited	Altered Expression	[2]
TK1	TTP3QRF	moderate	Genetic Variation	[3]
BTK	TTGM6VW	Strong	Genetic Variation	[4]
TCL1A	TTUKRDV	Strong	Biomarker	[5]
ZAP70	TTUMHT8	Strong	Altered Expression	[6]
CD38	TTPURFN	Definitive	Genetic Variation	[7]
------------------------------------------------------------------------------------


⏷ Show the Full List of 6 DTT(s)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC35B2	DT81RKJ	Strong	Biomarker	[8]
------------------------------------------------------------------------------------

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PLCG2	OTGVC9MY	Limited	Genetic Variation	[9]
SLC7A4	OTAVC6QS	Limited	Genetic Variation	[10]
LRP4	OTO4M459	moderate	Genetic Variation	[11]
TCL1B	OT4CSO39	Strong	Biomarker	[5]
------------------------------------------------------------------------------------

References

1	ClinicalTrials.gov (NCT03484702) Trial to Determine the Efficacy and Safety of JCAR017 in Adult Subjects With Aggressive B-Cell Non-Hodgkin Lymphoma
2	Cytogenetic and flow cytometry evaluation of Richter syndrome reveals MYC, CDKN2A, IGH alterations with loss of CD52, CD62L and increase of CD71 antigen expression as the most frequent recurrent abnormalities.Am J Clin Pathol. 2015 Jan;143(1):25-35. doi: 10.1309/AJCPATRQWANW2O3N.
3	Prognostic impact of Epstein-Barr virus (EBV)-DNA copy number at diagnosis in chronic lymphocytic leukemia.Oncotarget. 2016 Jan 12;7(2):2135-42. doi: 10.18632/oncotarget.6281.
4	Targeted multigene deep sequencing of Bruton tyrosine kinase inhibitor-resistant chronic lymphocytic leukemia with disease progression and Richter transformation.Cancer. 2019 Feb 15;125(4):559-574. doi: 10.1002/cncr.31831. Epub 2018 Dec 3.
5	Loss of NFAT2 expression results in the acceleration of clonal evolution in chronic lymphocytic leukemia.J Leukoc Biol. 2019 Mar;105(3):531-538. doi: 10.1002/JLB.2AB0218-076RR. Epub 2018 Dec 17.
6	High serum thymidine kinase 1 level predicts poorer survival in patients with chronic lymphocytic leukemia.Am J Clin Pathol. 2010 Sep;134(3):472-7. doi: 10.1309/AJCPHMYT93HUIZKW.
7	Risk factors for Richter syndrome in chronic lymphocytic leukemia.Curr Hematol Malig Rep. 2014 Sep;9(3):294-9. doi: 10.1007/s11899-014-0223-4.
8	PD-1 Expression in Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma (CLL/SLL) and Large B-cell Richter Transformation (DLBCL-RT): A Characteristic Feature of DLBCL-RT and Potential Surrogate Marker for Clonal Relatedness.Am J Surg Pathol. 2018 Jul;42(7):843-854. doi: 10.1097/PAS.0000000000001077.
9	Etiology of Ibrutinib Therapy Discontinuation and Outcomes in Patients With Chronic Lymphocytic Leukemia.JAMA Oncol. 2015 Apr;1(1):80-7. doi: 10.1001/jamaoncol.2014.218.
10	Relationship between the mutational status of VH genes and pathogenesis of diffuse large B-cell lymphoma in Richter's syndrome.Leukemia. 2004 Feb;18(2):326-30. doi: 10.1038/sj.leu.2403249.
11	A variant of the LRP4 gene affects the risk of chronic lymphocytic leukaemia transformation to Richter syndrome.Br J Haematol. 2011 Feb;152(3):284-94. doi: 10.1111/j.1365-2141.2010.08482.x. Epub 2010 Dec 1.