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del(13q) in chronic lymphoproliferative diseases

Written1999-11Antonio Cuneo
Hematology Section, Dept. Of Biomedical Sciences, University of Ferrara, 44100 Ferrara Italy

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Atlas_Id 2065
Note a spectrum of B-cell chronic lymphoproliferative disorders (CLD) may carry a chromosome 13q deletion; among these, three forms other than chronic lymphocytic leukemia (CLL)were identified by the FAB group which may frequently carry a 13q- chromosome: atypical CLL, splenic lymphoma with villous lymphocytes, corresponding to splenic marginal zone B-cell lymphoma, and mantle cell lymphoma (MCL) in leukemic phase
  del(13q)  Top row: Partial karyotypes with various 13q deletions – Courtesy Adriana Zamecnikova. Middle row: clones dJ1154H7 (top) and dJ1013C9 (bottom) for 13q14 deletions, in normal cells - Courtesy Mariano Rocchi. Bottom row: Hybridization with the LSI 13q14 (red signal) and the subtelomeric probe (green signal) on normal metaphase (A) and showing the presence of 1 green/2 red signal (13q34 deletion) (B) and the two green/one red signal (interstitial deletion involving the 13q14 region) (C). Hybridization with LSI D13S319/LSI 13q34/ CEP 12 multi-color probe showing deletion involving 13q34 (missing 1 blue signal) (D) – Courtesy Adriana Zamecnikova.

Clinics and Pathology

Disease atypical CLL, including the CLL/PL (prolymphocytic leukemia) or CLL mixed-cell-type variant by FAB criteria
Phenotype / cell stem origin virgin CD5+ recirculating B-cell
Epidemiology del(13q) is found in approximately 10-15% of all CLLs
Clinics the clinical course may be more aggressive than in typical CLL, depending on stage at presentation and % of prolymphocytes

Disease splenic lymphoma with villous lymphcytes
Phenotype / cell stem origin chronic proliferation originating from the marginal zone B-lymphocytes
Epidemiology the disorder appears to be relatively rare, but it is probably underdiagnosed
Clinics the clinical course is indolent

Disease leukemic mantle cell lymphoma
Note the majority of mantle cell lymphomas show peripheral blood (PB) involvement at diagnosis or at disease evolution; there is a disease variant presenting as a de novo leukemic condition, presenting heterogeneous cytological features with PB and BM lymphocytosis, without adenopathy, with or withour splenomegaly; some of these cases may fulfill the FAB criteria for the diagnosis of atypical CLL; because these cases usually carry the t(11;14)(q13;q32) and a mantle-cell phenotype, they have also been referred to as "mantle cell leukemia": it is reasonable to assume that the transformation of a mantle cell may give rise to a spectrum of diseases ranging from the classical lymphomatous form of MCL to an overt leukemic condition, as is the case with small lymphocytic lymphoma and chronic lymphocytic leukemia
Phenotype / cell stem origin proliferation of cells of follicle mantle lineage (CD5/CD19/CD22 positive, CD23 negative, bright sIg expression)


Cytogenetics Morphological
  • the frequency of 13q- as an isolated chromosome change in atypical CLL is much lower than in typical CLL; however FISH studies detected an appoximately 40% incidence for this anomaly using a 13q14 probe; additional chromosome anomaly included +12, 6q- and complex karyotypes
  • the incidence of 13q- in splenic marginal zone B-cell lymphoma is low by conventional cytogenetic analysis. FISH studies detected a 12-47% incidence for cryptic 13q deletion, the highest frequency having been reported using a 13q14 Rb probe; the 13q- is usually associated with other chromosme changes, including +12, 14q+
  • as is the case with classical MCL, a 40-60% incidence for 13q14 deletion was reported in leukemic MCL/mantle cell leukemia by interphase FISH
  • Bibliography

    Chromosome aberrations in atypical chronic lymphocytic leukemia: a cytogenetic and interphase cytogenetic study.
    Bigoni R, Cuneo A, Roberti MG, Bardi A, Rigolin GM, Piva N, Scapoli G, Spanedda R, Negrini M, Bullrich F, Veronese ML, Croce CM, Castoldi G
    Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1997 ; 11 (11) : 1933-1940.
    PMID 9369429
    13q14 deletion in non-Hodgkin's lymphoma: correlation with clinicopathologic features.
    Cuneo A, Bigoni R, Rigolin GM, Roberti MG, Bardi A, Campioni D, Minotto C, Agostini P, Milani R, Bullrich F, Negrini M, Croce C, Castoldi G
    Haematologica. 1999 ; 84 (7) : 589-593.
    PMID 10406898
    Molecular cytogenetic analysis in splenic lymphoma with villous lymphocytes: frequent allelic imbalance of the RB1 gene but not the D13S25 locus on chromosome 13q14.
    García-Marco JA, Nouel A, Navarro B, Matutes E, Oscier D, Price CM, Catovsky D
    Cancer research. 1998 ; 58 (8) : 1736-1740.
    PMID 9563492
    Cyclin D1 overexpression allows identification of an aggressive subset of leukemic lymphoproliferative disorder.
    Levy V, Ugo V, Delmer A, Tang R, Ramond S, Perrot JY, Vrhovac R, Marie JP, Zittoun R, Ajchenbaum-Cymbalista F
    Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1999 ; 13 (9) : 1343-1351.
    PMID 10482984
    Mantle cell leukaemia?
    Neilson JR, Fegan CD, Milligan DW
    British journal of haematology. 1996 ; 93 (2) : 494-495.
    PMID 8639456
    Expressed sequences as candidates for a novel tumor suppressor gene at band 13q14 in B-cell chronic lymphocytic leukemia and mantle cell lymphoma.
    Stilgenbauer S, Nickolenko J, Wilhelm J, Wolf S, Weitz S, Döhner K, Boehm T, Döhner H, Lichter P
    Oncogene. 1998 ; 16 (14) : 1891-1897.
    PMID 9583687


    This paper should be referenced as such :
    Cuneo, A
    del(13q) in chronic lymphoproliferative diseases
    Atlas Genet Cytogenet Oncol Haematol. 1999;3(4):189-190.
    Free journal version : [ pdf ]   [ DOI ]
    On line version :

    Other genes implicated (Data extracted from papers in the Atlas) [ 1 ]

    Genes CD38

    Translocations implicated (Data extracted from papers in the Atlas)

     del(13q) in chronic lymphoproliferative diseases

    External links

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