It has been expanded to include other lymphoid malignancies that develop in CLL patients, including Hodgkin disease, prolymphocytic leukaemia (PLL), the Hodgkin variant of Richter transformation, small non-cleaved cell lymphoma, lymphoblastic lymphoma, and hairy cell leukaemia 8. Lymph node biopsy is required for the diagnosis of Richter transformation.
Richter transformation is observed in about 5-10% of patients with chronic lymphocytic leukaemia 5.
Patients present with an aggressive disease course, with rapidly enlarging lymph nodes, hepatosplenomegaly, and elevated serum lactate dehydrogenase (LDH) levels. Systemic symptoms include weight loss, fever, and drenching night sweats. Abdominal pain may be a consequence of further hepatic and/or splenic enlargement.
The nodal disease can potentially occur anywhere in the body. The disease can also present as distinct mass-like lesions 1.
Extranodal involvement is rare and can involve the gastrointestinal tract, central nervous system, skin, eye, lung, kidney, or testis.
The molecular mechanisms involved are poorly understood. Richter transformation may be triggered by viral infections, common in immunosuppressed patients, such as Epstein-Barr infection. Multiple genetic defects have been described that may cause CLL cell proliferation and eventual transformation 8.
Development of lymphadenopathy and splenomegaly in a context of known CLL.
PET-CT may play a role and nodes show high FDG uptake 3,9.
Treatment and prognosis
Treatment strategies include chemotherapy regimens given for aggressive lymphoma or acute lymphoblastic leukaemia (ALL), with or without monoclonal antibodies, allogeneic stem cell transplantation, and, rarely, radiotherapy.
The disease responds poorly to therapy. Prognosis is poor, with a mean survival duration of 5-8 months for patients on therapy 8.
History and etymology
It was first described by M N Richter in 1928 4.
- 1. Ghofrani M, Tantiwongkosi B, Smith AS et-al. Richter transformation of chronic lymphocytic leukemia presenting as a dural-based non-hodgkin lymphoma mass. AJNR Am J Neuroradiol. 2007;28 (2): 318-20. Pubmed citation
- 2. Fiz F, Marini C, Piva R et-al. Adult advanced chronic lymphocytic leukemia: computational analysis of whole-body CT documents a bone structure alteration. Radiology. 2014;271 (3): 805-13. doi:10.1148/radiol.14131944 - Pubmed citation
- 3. Bruzzi JF, Macapinlac H, Tsimberidou AM, Truong MT, Keating MJ, Marom EM, Munden RF. Detection of Richter's transformation of chronic lymphocytic leukemia by PET/CT. Journal of nuclear medicine : official publication, Society of Nuclear Medicine. 47 (8): 1267-73. Pubmed
- 4. Richter MN. Generalized Reticular Cell Sarcoma of Lymph Nodes Associated with Lymphatic Leukemia. Am. J. Pathol. 1928;4 (4): 285-292.7. Free text at pubmed - Pubmed citation
- 5. Jain P, O'Brien S. Richter's transformation in chronic lymphocytic leukemia. Oncology (Williston Park, N.Y.). 2013;26 (12): 1146-52. Pubmed citation
- 6. Yee KW, O'Brien SM, Giles FJ. Richter's syndrome: biology and therapy. Cancer J. 2005;11 (3): 161-74. Pubmed citation
- 7. Rubin D, Hudnall SD, Aisenberg A et-al. Richter's transformation of chronic lymphocytic leukemia with Hodgkin's-like cells is associated with Epstein-Barr virus infection. Mod. Pathol. 1994;7 (1): 91-8. Pubmed citation
- 8. Tsimberidou AM, Keating MJ. Richter syndrome: biology, incidence, and therapeutic strategies. Cancer. 103 (2): 216-28. doi:10.1002/cncr.20773 - Pubmed
- 9. García Vicente AM, Jiménez Londoño GA, Hernández Ruiz B, Soriano Castrejón Á. Richter's syndrome: Utility of ¹⁸F-FDG PET/CT. Revista espanola de medicina nuclear e imagen molecular. 32 (2): 102-4. doi:10.1016/j.remn.2012.08.001 - Pubmed
- 10. Mauro FR, Chauvie S, Paoloni F, Biggi A, Cimino G, Rago A, Gentile M, Morabito F, Coscia M, Bellò M, Sacchetti GM, Rossi D, Laurenti L, Autore F, Campanelli M, Trastulli F, Nicolai E, Riminucci M, Gaidano G, Guarini A, Gallamini A, Foà R. Diagnostic and prognostic role of PET/CT in patients with chronic lymphocytic leukemia and progressive disease. Leukemia. 29 (6): 1360-5. doi:10.1038/leu.2015.21 - Pubmed