title: Immunophenotypic features distinguishing familial chronic lymphocytic leukemia from sporadic chronic lymphocytic leukemia.
abstract: BACKGROUND
  Familial chronic lymphocytic leukemia (CLL) has the most frequent familial aggregation among hematological malignancies. Familial CLL families have been studied to identify susceptibility genes and other factors that contribute in the etiology of CLL. To date no study has been conducted to evaluate and compare patterns of cell surface antigen expression in familial CLL and sporadic CLL.
  
  
  METHODS
  The pattern of cell surface antigen expression was studied in familial and sporadic CLL to determine if unique identifiers of familial CLL could be detected. Survival in familial CLL verses sporadic CLL was compared and the association between prognosis and CD38 expression studied.
  
  
  RESULTS
  Familial and sporadic CLL demonstrated the same characteristic immunophenotype (positive for surface immunoglobulin, CD5, CD19, and CD23 with dim CD20, and CD22). CD2 and CD13 expression, however, were more frequent (30% of cases) in familial CLL (P = 0.0003 for CD2, P = 0.006 for CD13) than in sporadic CLL (2-6%). There was no significant difference in survival in the two groups studied. Although the incidence of CD38 expression was similar in familial and sporadic CLL (47% and 44% respectively) the association with prognosis differed. There was a trend to decreased survival in CD38 positive sporadic (P = 0.06) but not familial CLL patients.
  
  
  CONCLUSIONS
  We conclude that detection of CD2 or CD13 expression in CLL suggests familial CLL and examination of family history for additional affected members is warranted. Furthermore, CD38 expression does not carry the negative prognosis observed in sporadic CLL.
authors.affiliation: Good Samaritan Hospital, Dayton, Ohio, USA.
authors.forename: Ejaz
authors.initials: E
authors.lastname: Ahmad
authors.forename: Seth M
authors.initials: SM
authors.lastname: Steinberg
authors.forename: Lynn
authors.initials: L
authors.lastname: Goldin
authors.forename: Christopher J
authors.initials: CJ
authors.lastname: Hess
authors.forename: Neil
authors.initials: N
authors.lastname: Caporaso
authors.forename: Robert J
authors.initials: RJ
authors.lastname: Kreitman
authors.forename: Adrian
authors.initials: A
authors.lastname: Wiestner
authors.forename: Wyndham
authors.initials: W
authors.lastname: Wilson
authors.forename: Therese
authors.initials: T
authors.lastname: White
authors.forename: Gerald
authors.initials: G
authors.lastname: Marti
authors.forename: Maryalice
authors.initials: M
authors.lastname: Stetler-Stevenson
mesh_terms: D051997:ADP-ribosyl Cyclase 1 / Q000276:immunology*; D000368:Aged; D018826:CD13 Antigens / Q000276:immunology*; D018801:CD2 Antigens / Q000276:immunology*; D005260:Female; D006801:Humans; D016130:Immunophenotyping; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology*; D008297:Male; D008562:Membrane Glycoproteins / Q000276:immunology*; D008875:Middle Aged; D011379:Prognosis; D015996:Survival Rate
chemical_list: D018801:CD2 Antigens; D008562:Membrane Glycoproteins; C498154:CD38 protein, human; D051997:ADP-ribosyl Cyclase 1; D018826:CD13 Antigens