Familial B-cell chronic lymphocytic leukemia: Analysis of cytogenetic abnormalities, immunophenotypic profiles, and immunoglobulin heavy chain gene usage

American Journal of Clinical Pathology

Volumn 127, Issue 1, 2007, Pages 31-38

  Aoun, Patricia ^a   Zhou, Guimei ^a   Chan, Wing C ^a   Page, Cynthia ^a   Neth, Kellie ^a   Pickering, Diane ^a   Sanger, Warren ^a   Quinn Laquer, Brigid ^b   Watson, Patrice ^b   Lynch, Jane F ^b   Lynch, Henry T ^b   Weisenburger, Dennis D ^a  

^a UNIVERSITY OF NEBRASKA MEDICAL CENTER   (United States)

^b CREIGHTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Chronic lymphocytic leukemia; CLL; Cytogenetics; FISH; Fluorescence in situ hybridization; Immunophenotyping; Variable region genes

Indexed keywords

CD38 ANTIGEN; IMMUNOGLOBULIN HEAVY CHAIN; PROTEIN KINASE ZAP 70;

ADULT; ARTICLE; B CELL CHRONIC LYMPHOCYTIC LEUKEMIA; CHROMOSOME 13Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME REARRANGEMENT; CHRONIC LYMPHATIC LEUKEMIA; CLINICAL ARTICLE; CONTROLLED STUDY; FAMILIAL DISEASE; FEMALE; FLOW CYTOMETRY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE MUTATION; HUMAN; IMMUNOPHENOTYPING; LEUKEMIA CELL; MALE; PATHOGENESIS; PRIORITY JOURNAL; TRISOMY 12; AGED; B CELL LEUKEMIA; CHROMOSOME 13; FAMILY HEALTH; GENETICS; IMMUNOLOGY; MIDDLE AGED;

ADULT; AGED, 80 AND OVER; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 13; FAMILY HEALTH; FEMALE; HUMANS; IMMUNOGLOBULIN HEAVY CHAINS; IMMUNOPHENOTYPING; IN SITU HYBRIDIZATION, FLUORESCENCE; LEUKEMIA, B-CELL, CHRONIC; MALE; MIDDLE AGED;

EID: 34249078262     PISSN: 00029173     EISSN: None     Source Type: Journal    
DOI: 10.1309/PFTPLL4HCK2D1ERK     Document Type: Article

References (55)

1. Muller-Hermelink HK, Catovsky D, Montserrat E, et al. Chronic lymphocytic leukaemia/small lymphocytic lymphoma. In: Jaffe ES, Harris NL, Stein H, et al, eds. Pathology and Genetics of Tumours of Haematopoietic and Lymphoid Tissues. Lyon, France: IARC Press; 2001:127-130. World Health Organization Classification of Tumours.
2. Damle RN, Wasil T, Fais F, et al. Ig V gene mutation status and CD38 expression as novel prognostic indicators in chronic lymphocytic leukemia. Blood. 1999;94:1840-1847.
3. H genes are associated with a more aggressive form of chronic lymphocytic leukemia. Blood. 1999;94:1848-1854.
4. Dohner H, Stilgenbauer S, Benner A, et al. Genomic aberrations and survival in chronic lymphocytic leukemia. N Engl J Med. 2000;343:1910-1916.
5. Hamblin TJ, Orchard JA, Ibbotson RE, et al. CD38 expression and immunoglobulin variable region mutations are independent prognostic variables in chronic lymphocytic leukemia, but CD38 expression may vary during the course of the disease. Blood. 2002;99:1023-1029.
6. H mutation status, CD38 expression level, genomic aberrations, and survival in chronic lymphocytic leukemia. Blood. 2002;100:1410-1416.
7. Oscier DG, Matutes E, Gopplestone A, et al. Atypical lymphocyte morphology: an adverse prognostic factor for disease progression in stage A CLL independent of trisomy 12. Br J Haematol. 1997;98:934-939.
8. Crespo M, Bosch F, Villamor N, et al. ZAP-70 expression as a surrogate for immunoglobulin-variable-region mutations in chronic lymphocytic leukemia. N Engl J Med. 2003;348:1764-1775.
9. Orchard JA, Ibbotson RE, Davis Z, et al. ZAP-70 expression and prognosis in chronic lymphocytic leukaemia. Lancet. 2004;363:105-111.
10. Rassenti LZ, Huynh L, Toy TL, et al. ZAP-70 compared with immunoglobulin heavy-chain gene mutation status as a predictor of disease progression in chronic lymphocytic leukemia. N Engl J Med. 2004;351:893-901.
11. Dewald GW, Brockman SR, Paternoster SF, et al. Chromosome anomalies detected by interphase fluorescence in situ hybridization: correlation with significant biological features of B-cell chronic lymphocytic leukaemia. Br J Haematol. 2003;121:287-295.
12. H1 genes expressed in B cell chronic lymphocytic leukemia exhibit distinctive molecular features. J Immunol. 1997;158:235-246.
13. Fais F, Ghiotto F, Hashimoto S, et al. Chronic lymphocytic leukemia B cells express restricted sets of mutated and unmutated antigen receptors. J Clin Invest. 1998;102:1515-1525.
14. H3-21 genes characterize a new subset of chronic lymphocytic leukemia. Blood. 2002;99:2262-2264.
15. Tobin G, Thunberg U, Karlsson K, et al. Subsets with restricted immunoglobulin gene rearrangement features indicate a role for antigen selection in the development of chronic lymphocytic leukemia. Blood. 2004;104:2879-2885.
16. Mauerer K, Zahrieh D, Gorgun G, et al. Immunoglobulin gene segment usage, location and immunogenicity in mutated and unmutated chronic lymphocytic leukaemia. Br J Haematol. 2005;129:499-510.
17. H genes. Blood. 2006;107:2090-2093.
18. H3-21-using chronic lymphocytic leukemia patients independent of geographic origin and mutational status. Blood. 2006;107:2889-2894.
19. H genes among subsets of chronic lymphocytic leukemia defined by chromosomal abnormalities. Blood. 1997;89:4153-4160.
20. H status. Leuk Lymphoma. 2004;45:2037-2045.
21. H mutation status in chronic lymphocytic leukemia. J Clin Oncol. 2006;24:969-975.
22. Linet MS, Van Natta ML, Brookmeyer R, et al. Familial cancer history and chronic lymphocytic leukemia: a case-control study. Am J Epidemiol. 1989;130:655-664.
23. Cuttner J. Increased incidence of hematologic malignancies in first-degree relatives of patients with chronic lymphocytic leukemia. Cancer Invest. 1992;10:103-109.
24. Shah AR, Maeda K, Deegan MJ, et al. A clinicopathologic study of familial chronic lymphocytic leukemia. Am J Clin Pathol. 1992;97:184-188.
25. Fernhout F, Dinkelaar RB, Hagemeijer A, et al. Four aged siblings with B cell chronic lymphocytic leukemia. Leukemia. 1997;11:2060-2065.
26. Goldin LR, Sgambati M, Marti GE, et al. Anticipation in familial chronic lymphocytic leukemia. Am J Hum Genet. 1999;65:265-269.
27. Capalbo S, Trerotoli P, Ciancio A, et al. Increased risk of lymphoproliferative disorders in relatives of patients with B-cell chronic lymphocytic leukemia: relevance of the degree of familial linkage. Eur J Haematol. 2000;65:114-117.
28. Sakai A, Marti GE, Caporaso N, et al. Analysis of expressed immunoglobulin heavy chain genes in familial B-CLL. Blood. 2000;95:1413-1419.
29. Yuille MR, Matutes E, Marossy A, et al. Familial chronic lymphocytic leukaemia: a survey and review of published studies. Br J Haematol. 2000;109:794-799.
30. Ishibe N, Sgambati MT, Fontaine L, et al. Clinical characteristics of familial B-CLL in the National Cancer Institute Familial Registry. Leuk Lymphoma. 2001;42:99-108.
31. Wiernik PH, Ashwin M, Hu XP, et al. Anticipation in familial chronic lymphocytic leukaemia. Br J Haematol. 2001;113:407-414.
32. Lynch HT, Weisenburger DD, Quinn-Laquer B, et al. Hereditary chronic lymphocytic leukemia: an extended family study and literature review. Am J Med Genet. 2002;115:113-117.
33. Rawstron AC, Yuille MR, Fuller J, et al. Inherited predisposition to CLL is detectable as subclinical monoclonal B-lymphocyte expansion. Blood. 2002;100:2289-2290.
34. Goldin LR, Pfeiffer RM, Li X, et al. Familial risk of lymphoproliferative tumors in families of patients with chronic lymphocytic leukemia: results from the Swedish Family-Cancer Database. Blood. 2004;104:1850-1854.
35. Aurran-Schleinitz T, Telford W, Perfetto S, et al. Identification of a new monoclonal B-cell subset in unaffected first-degree relatives in familial chronic lymphocytic leukemia. Leukemia. 2005;19:2339-2341.
36. Summersgill B, Thornton P, Atkinson S, et al. Chromosomal imbalances in familial chronic lymphocytic leukaemia: a comparative genomic hybridisation analysis. Leukemia. 2002;16:1229-1232.
37. Espinet B, Salido M, Hernandez JA, et al. Cytogenetic findings in familial B-cell chronic lymphocytic leukemia: a report of two cases in a family. Cancer Genet Cytogenet. 2003;143:172-173.
38. Goldin LR, Ishibe N, Sgambati M, et al. A genome scan of 18 families with chronic lymphocytic leukaemia. Br J Haematol. 2003;121:866-873.
39. Mehes L, Balazs M, Rejto L, et al. Chromosomal aberrations and CD38 expression in two siblings with B-cell chronic lymphocytic leukemia: a report of two siblings. Leuk Lymphoma. 2005;46:421-423.
40. Marti GE, Carter P, Abbasi F, et al. B-cell monoclonal lymphocytosis and B-cell abnormalities in the setting of familial B-cell chronic lymphocytic leukemia. Cytometry. 2003;52B:1-12.
41. Rassenti L, Toy TL, Huynh L, et al. High similarity between familial and sporadic cases of chronic lymphocytic leukemia [abstract]. Blood. 2003;102:670a.
42. Shen A, Humphries C, Tucker P, et al. Human heavy-chain variable region gene family nonrandomly rearranged in familial chronic lymphocytic leukemia. Proc Natl Acad Sci U S A. 1987;84:8563-8567.
43. Hakim I, Amariglio N, Brok-Simoni F, et al. Preferred usage of specific immunoglobulin gene segments in chronic lymphocytic leukaemia cells of three HLA-identical sisters. Br J Haematol. 1995;91:915-917.
44. H gene usage by family members affected with chronic lymphocytic leukaemia. Br J Haematol. 1999;107:616-624.
45. Wu G, Greiner TC, Chan WC. Obtaining clone-specific primer and probe for the immunoglobulin heavy-chain gene from paraffin-embedded tissue of B-cell lymphoma: technical considerations. Diagn Mol Pathol. 1997;6:147-153.
46. Aoun P, Blair HE, Smith LM, et al. Fluorescence in situ hybridization detection of cytogenetic abnormalities in B-cell chronic lymphocytic leukemia/small lymphocytic lymphoma. Leuk Lymphoma. 2004;45:1595-1603.
47. Caporaso N, Marti GE, Goldin L. Perspectives on familial chronic lymphocytic leukemia: genes and the environment. Semin Hematol. 2004;41:201-206.
48. Calin GA, Dumitru CD, Shimizu M, et al. Frequent deletions and down-regulation of micro-RNA genes miR15 and miR16 at 13q14 in chronic lymphocytic leukemia. Proc Natl Acad Sci U S A. 2002;99:15524-15529.
49. Calin GA, Trapasso F, Shimizu M, et al. Familial cancer associated with a polymorphism in ARLTS1. N Engl J Med. 2005;352:1667-1676.
50. Rawstron AC, Green MJ, Kuzmicki A, et al. Monoclonal B lymphocytes with the characteristics of "indolent" chronic lymphocytic leukemia are present in 3.5% of adults wirh normal blood counts. Blood. 2002;100:635-639.
51. Ghia P, Prato G, Scielzo C, et al. Monoclonal CD5+ and CD5- B-lymphocyte expansions are frequent in the peripheral blood of the elderly. Blood. 2004;103:2337-2342.
52. Rosenwald A, Alizadeh AA, Widhopf G, et al. Relation of gene expression phenotype to immunoglobulin mutation genotype in B cell chronic lymphocytic leukemia. J Exp Med. 2001;194:1639-1647.
53. Durig J, Nuckel H, Cremer M, et al. ZAP-70 expression is a prognostic factor in chronic lymphocytic leukemia. Leukemia. 2003;17:2426-2434.
54. Wiestner A, Rosenwald A, Barry TS, et al. ZAP-70 expression identifies a chronic lymphocytic leukemia subtype with unmutated immunoglobulin genes, inferior clinical outcome, and distinct gene expression profile. Blood. 2003;101:4944-4951.
55. Schroers R, Griesinger F, Trumper L, et al. Combined analysis of ZAP-70 and CD38 expression as a predictor of disease progression in B-cell chronic lymphocytic leukemia. Leukemia. 2005;19:750-758.