Richter transformation with c-MYC overexpression: report of three cases.
Pathogenesis of Richter transformation (RT) or Richter syndrome (RS) of chronic lymphocytic leukemia (CLL) is still largely unknown. Increasing evidences show that c-MYC may play a role in the development of RS. Here we report three cases of RS with overexpression of c-MYC. The first case was a 78-year-old male who initially presented with CLL and then developed diffuse lymphadenopathy and ascites shortly after. Ascites cytology showed a population of large lymphoid cells positive for MYC (8q24) rearrangement by fluorescence in situ hybridization (FISH) and overexpression of c-MYC by immunohistochemistry (IHC). The second case was a 66-year-old male presented with rapidly enlarging lymph nodes and pleural effusion after a long history of CLL. Biopsy showed large B-cells positive for c-MYC overexpression and high Ki-67 proliferation index (80-90%). The third case was a 62-year-old female with CLL who presented for lobectomy for lung adenocarcinoma. Interestingly, along with the carcinoma, large B-cell lymphoma was incidentally found which had the same immunophenotype as the CLL. FISH analysis revealed gain of c-MYC at 8q and IHC showed increased c-MYC expression. This study supports that c-MYC plays a critical role in RS.
Department of Pathology, University of California San Diego La Jolla, CA 92093, USA.
Ling
L
Wang
Department of Pathology, University of California San Diego La Jolla, CA 92093, USA.
Azadeh
A
Aghel
Naval Medical Center San Diego, CA 92134 USA.
Brandon
B
Peterson
Department of Pathology, University of California San Diego La Jolla, CA 92093, USA ; VA Medical Center San Diego, CA 92161, USA.
Jessica
J
Wang-Rodriguez
Department of Pathology, University of California San Diego La Jolla, CA 92093, USA.
Huan-You
HY
Wang
Department of Pathology, University of California San Diego La Jolla, CA 92093, USA ; VA Medical Center San Diego, CA 92161, USA.
Xianfeng Frank
XF
Zhao
D000368:Aged; D000369:Aged, 80 and over; D014408:Biomarkers, Tumor / Q000032:analysis* / Q000235:genetics; D002471:Cell Transformation, Neoplastic / Q000737:chemistry / Q000235:genetics / Q000473:pathology*; D017809:Fatal Outcome; D005260:Female; D015321:Gene Rearrangement; D006801:Humans; D007150:Immunohistochemistry; D017404:In Situ Hybridization, Fluorescence; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000235:genetics / Q000378:metabolism* / Q000473:pathology / Q000628:therapy; D016403:Lymphoma, Large B-Cell, Diffuse / Q000737:chemistry* / Q000235:genetics / Q000473:pathology / Q000628:therapy; D008297:Male; D008875:Middle Aged; D016271:Proto-Oncogene Proteins c-myc / Q000032:analysis* / Q000235:genetics; D013997:Time Factors; D016896:Treatment Outcome; D015854:Up-Regulation
D014408:Biomarkers, Tumor; C489427:MYC protein, human; D016271:Proto-Oncogene Proteins c-myc
Chronic lymphocytic leukemia/small lymphocytic lymphoma; MYC; Richter syndrome; diffuse large B-cell lymphoma