title: 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.
abstract: OBJECTIVE
  Richter syndrome (RS) is a transformation of chronic lymphocytic leukemia (CLL) or small lymphocytic lymphoma (SLL) into high-grade lymphoma. There are only limited data on flow cytometry (FCM) and cytogenetics in RS.
  
  
  METHODS
  In this study, FCM, classic cytogenetics (CC), and fluorescence in situ hybridization (FISH) were performed in eight RS cases.
  
  
  RESULTS
  Most cases of RS were characterized by a loss/decrease of CD52 and CD62L and increased CD71 expression. CC identified complex karyotypes, with losses of 9/9p and 17/17p as the most frequent in four of seven cases. Seven RS cases demonstrated MYC abnormalities. Disruptions of CDKN2A and IGH were identified in five of seven and four of seven RS cases, respectively.
  
  
  CONCLUSIONS
  Newly diagnosed RS is an oncologic emergency, and a quick diagnostic decision is crucial in clinical practice. Therefore, in patients with CLL/SLL and rapidly enlarging asymmetric lymphadenopathy and/or extranodal tumors, we strongly advise FCM of fine-needle aspiration biopsy (FNAB) material, including CD62L, CD52, and CD71 analysis as well as assessment of karyotype and at least MYC abnormalities by FISH of the same FNAB material. Loss of CD52 expression in RS most likely predicts resistance to alemtuzumab therapy, which is frequently used in CLL.
authors.affiliation: From the Cancer Genetics Laboratory and renatawr@coi.waw.pl.
authors.forename: Renata
authors.initials: R
authors.lastname: Woroniecka
authors.affiliation: Flow Cytometry Laboratory of the Pathology Department and Laboratory Diagnostics, the Maria Skłodowska-Curie Memorial Institute and Cancer Centre, Warszawa, Poland;
authors.forename: Grzegorz
authors.initials: G
authors.lastname: Rymkiewicz
authors.affiliation: From the Cancer Genetics Laboratory and.
authors.forename: Beata
authors.initials: B
authors.lastname: Grygalewicz
authors.affiliation: Flow Cytometry Laboratory of the Pathology Department and Laboratory Diagnostics, the Maria Skłodowska-Curie Memorial Institute and Cancer Centre, Warszawa, Poland;
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Błachnio
authors.affiliation: From the Cancer Genetics Laboratory and.
authors.forename: Jolanta
authors.initials: J
authors.lastname: Rygier
authors.affiliation: Department of Hematology and Bone Marrow Transplantation, University of Medical Sciences, Poznań, Poland; and Institute of Human Genetics, Polish Academy of Sciences, Poznań, Poland.
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Jarmuż-Szymczak
authors.affiliation: Department of Hematology and Bone Marrow Transplantation, University of Medical Sciences, Poznań, Poland; and.
authors.forename: Błażej
authors.initials: B
authors.lastname: Ratajczak
authors.affiliation: From the Cancer Genetics Laboratory and.
authors.forename: Barbara
authors.initials: B
authors.lastname: Pieńkowska-Grela
mesh_terms: D000328:Adult; D000368:Aged; D015703:Antigens, CD / Q000378:metabolism; D000951:Antigens, Neoplasm / Q000378:metabolism; D000074301:CD52 Antigen; D019941:Cyclin-Dependent Kinase Inhibitor p16 / Q000235:genetics / Q000378:metabolism; D020732:Cytogenetic Analysis; D005260:Female; D005434:Flow Cytometry; D005820:Genetic Testing / Q000379:methods; D006023:Glycoproteins / Q000172:deficiency / Q000378:metabolism; D006801:Humans; D019041:L-Selectin / Q000276:immunology; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D008297:Male; D008875:Middle Aged; D016271:Proto-Oncogene Proteins c-myc / Q000378:metabolism; D011990:Receptors, Transferrin / Q000378:metabolism
chemical_list: D015703:Antigens, CD; D000951:Antigens, Neoplasm; D000074301:CD52 Antigen; C000613862:CD52 protein, human; C068126:CD71 antigen; D019941:Cyclin-Dependent Kinase Inhibitor p16; D006023:Glycoproteins; C489427:MYC protein, human; D016271:Proto-Oncogene Proteins c-myc; D011990:Receptors, Transferrin; D019041:L-Selectin
keywords: Alemtuzumab in CLL; CD52, CD62L, CD71; Flow cytometry; MYC, CDKN2A, IGH; Richter syndrome