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©Ferrata Storti Foundation Malignant Lymphomas original paper haematologica 2001; 86:71-77 Splenic marginal zone B-cell http://www.haematologica.it/2001_01/0071.htm lymphomas: two cytogenetic subtypes, one with gain of 3q and the other with loss of 7q FRANCESC SOLÉ,* MARTA SALIDO,* BLANCA ESPINET,* *Laboratori de Citologia Hematològica, Laboratori de Referència JUAN LUÍS GARCIA,° JOSÉ ANGEL MARTINEZ CLIMENT,# ISABEL de Catalunya, Departament de Patologia, Hospital del Mar, IMAS, GRANADA,@ JESÚS Mª HERNÁNDEZ,° ISABEL BENET,# MIGUEL IMIM, Barcelona; Escola de Citologia Hematològica Soledad ANGEL PIRIS,^ MANUELA MOLLEJO,§ PEDRO MARTINEZ,§ Woessner-IMAS; °Servicio de Hematología, Hospital Universitario TERESA VALLESPÍ,** ALICIA DOMINGO,°° SERGI SERRANO,* Centro de Investigación del Cáncer, Universidad de Salamanca- CSIC; #Servicio de Hematología y Oncología Médica, Hospital Clíni- SOLEDAD WOESSNER,* LOURDES FLORENSA* co Universitario de Valencia; @Servei d'Hematologia Hospital Ger- mans Trias i Pujol, Badalona; ^Programa de Patología Molecular, Centro Nacional de Investigaciones Oncológicas Carlos III, Madrid; §Servicio de Anatomia Patológica, Complejo Hospitalario de Tole- Correspondence: Francesc Solé, M.D., Laboratori de Citologia Hema- do; **Servicio de Hematología. Hospital Universitari Vall d'He- tològica, Laboratori de Referència de Catalunya, Departament de brón, Barcelona; °°Servicio de Hematología, Laboratorio de Patologia, Hospital del Mar, Passeig Maritim, 25-29, 08003 Barcelona, Spain. Phone: international +34-93-2211010 ext.1073 Fax: interna- Citología Hematológica, Ciudad Sanitaria y Universitaria de Bell- tional +34-93-2212920 - E-mail: [email protected] vitge, Hospital Princeps d’Espanya, Spain Background and Objectives. Splenic marginal zone B-cell plenic marginal zone B-cell lymphoma (SMZBCL) is lymphoma (SMZBCL) has clinical, immunophenotypic and a recognized entity for which the clinical, morpho- histologic features distinct from other B-cell malignancies, logic, immunophenotypic and histologic character- but few chromosome studies have been previously report- S 1-3 ed. In the present study we performed conventional cyto- istics are well established. It is believed that SMZBCL genetics and in situ hybridization studies in 47 patients with has some overlapping features with splenic lymphomas SMZBCL. with circulating villous lymphocytes (SLVL). SMZBCL may express circulating monocytoid B-cells, with or without Design and Methods. We studied 47 cases of splenic mar- ginal zone B-cell lymphoma combining conventional cyto- microvilli and a variable number of lymphocytes very genetics and in situ hybridization (ISH) techniques using closely resembling those of SLVL. Bone marrow involve- centromeric probes (chromosomes 3 and 12), locus specific ment in the absence of significant lymphadenopathy is probes (7q31 and 17p13) and cross-species color band- also commonly seen at presentation.4 ing fluorescent ISH probes (RxFISH). The diagnosis of Although SMZBCL and SLVL appear to have clinical, SMZBCL was ascertained in all cases after studying, mor- immunophenotypic and histologic features distinct phologically and immunologically, peripheral blood and from other B-cell malignancies, chromosome studies splenectomy specimens. have been previously reported only in a few series.5-8 Results. A clonal chromosome abnormality detected by con- Oscier et al.5 suggested a relationship with mantle cell ventional cytogenetics and/or FISH was found in 33/47 lymphomas due to the detection of t(11;14), and Dier- patients (70%) being identified in 18 (18/33, 55%) as a lamm et al.6 found a high incidence of trisomy 3, simi- complex abnormality. The most frequently recurrent abnor- lar to that reported in MALT lymphomas, in their series. malities were: gain of 3q (10 cases), del(7q) (12 cases), In our previous work on 19 patients, we found a high and involvement of chromosomes 1, 8 and 14. No patient showed translocation t(11;14) (q13;q32) or t(14;18) incidence of involvement of chromosomes 1, 3, 7 and (q21;q32). Trisomy 3 was detected in eight cases (8/47, 8;8 a lower frequency of trisomy 3 compared to the 17%). Two novel cytogenetic abnormalities involving 14q32, series of Dierlamm et al.6 and no patient with t(11;14) t(6;14)(p12;q32) and t(10;14) (q24;q32) were reported. (q13;q32). Deletion of 17p13 (P53) was observed by FISH in one case. The aim of the present study was to evaluate the Only one patient showed a gain of 3q or trisomy 3 and dele- cytogenetic data combining refined in situ hybridization tion 7q in the same karyotype. techniques in a series of 47 patients with the diagno- Interpretation and Conclusions. Our findings support the sis of SMZBCL based on histomorphologic and immuno- interpretation that two forms of SMZBCL could be consid- logic studies of spleen and peripheral blood. ered, one with gain of 3q and the other with deletions at 7q. ©2001, Ferrata Storti Foundation Design and Methods Key words: cytogenetics, in situ hybridization, splenic marginal Patients zone B-cell lymphoma, splenic lymphoma with villous lympho- Forty-seven patients with a diagnosis of SMZBCL cytes, cross-species color banding were studied (Table 1). The subjects were 47 consecu- haematologica vol. 86(1):January 2001 72 F. Solé et al. Table 1a. Cytogenetic findings in 47 patients with splenic Table 1b. Cytogenetic findings in 47 patients with splenic marginal zone B-cell lymphoma (SMZBCL). marginal zone B-cell lymphoma (SMZBCL). Num. Conventional karyotype FISH +3 +12 7q31 17p13 Num. Conventional karyotype FISH +3 +12 7q31 17p13 1. 46,XX [20]. N N N N 28 46,XY, del(1)(q42),+der(1), +3 N N N del(1)(p22),+3,+i(5)(q10),-9 [1]/ 48,idem, 2.* 48,XY,der(1), t(8;19)(?;q13),+mar(3), +3 N N N idic(9;15)(q10;q10)[1]/48,XY, del(1)(q11), +mar [12]/ 46,XX [8]. +12,+15 [1]/46,XY[19] 3.* 46,XX,del(6)(q21q24) [20]. +3 N N N 29 46,XX[10] N N N N 4.* 46,XY, ins(3;?)(p23;?) [20]. N N N N 30 46,XY [20] ND ND ND ND 5. 46,XX,del(1)(q32) [7]/ 46,XX [13]. N N ND ND 31 46,XY,del(7)(q32) [3]/45,XY,del(7)(q32), N N DEL N 6. 46,XX,del(7)(q32) [20]. ND ND ND ND -22 [1] 46,XY,add(1)(q44), del(7)(q32) [1]/46,XY[1] 7. 46,XX [20]. N N ND ND 32 46,XX, del(1)(p32), del(3)(p13), der(8), +3 N N DEL 8. 46,XX [20]. ND ND ND ND der(9), del(11)(q21), der(17) [11] 9. 46,XX [20]. N N DEL N 33 46,XX [20] N N N N 10. 46,XX [20]. N N N N 34 46,XX (19)/47,XX,+3 [1] N +12 N N 11. 46,XX [20]. N N N N 35 46,XX [20] N N N ND 12. 85-90, XXY, del(1)(q44), t(1;2)(q23;p21), ND ND ND ND del(3)(p11), der(4), del(5)(p13), del(6)(q23), 36* 46,XX,del(7)(q32q34) [15] N N N N del(9)(p21), dup(10)(q22q26), der(14), der(17), der(20) [20]. 37 45,X,-Y [8]/45,XY,t(9;21)(q34;q21?),-19, [8]/ N N N N 45,XY,-20 [16] 13. 44, XY, t(1;3)(q21;q22), t(7;17)(p11;p11), ND ND ND ND del(8)(q22),-20, -21 [20]. 38 46,XX, [20] N N N N 14. 46, XX, t(1;15)(p11;q11), del(8)(q12), ND ND ND ND 39 46,XX [20] N N N N del(18)(q21), del(14)(q24) [22]/46, XX [20] 40 47,XY,+5 (2)/46,XY,der(5) [1]/ N N N ND 15. 46, XX [20] N N N N 47,XY,+1,der(5) [2]/ 47,XY, +5, del(7)(q32) [1]/ 46,XY [12] 16*. 48, XX, +del(3)(p23), der(4)t(1;4)(q32;q35), +3 N N N +der(4)t(1;4)(q32;q35), add(14)(q32) [18]/ 41* 46,XY,t(6;14)(p12;q32) [10] /46,XY [10] N N N N 46,XX [14]. 42* 47,XY,der(6), del(7)(q32),der(19) t(11;19) N N N N 17. 46,XY, del(7)(q22), add(8)(q24), N N ND ND (q11;q13),+mar [5]/46,XY,der(6), del(13)(q14) [22]/46,XY [17]. add(18)(q23) [4]/ 46,XY,der(6), del(7)(q32) [4]/ 46,XY [3] 18* 46,XY,del(3)(q25),add(6)(q27),-7, +3 N N N del(13)(q14), del(14)(q11),-20,+mar(3), 43 46,XX [20] N N N N +mar [12]/ 46,XY[8]. 44* 46,XX, del(3)(p21), +del(3)(p21), +17, +3 N N N 19 48,XY,del(3)(p23),add(8)(q24),add(13)(p11), +3 N ND ND der(21)t(17;21)(q11;q22) [4]/46,XX [16] add(15)(p11),+18, add(21)(p11),add(22)(p11), +mar(3) [18]/ 46,XY [12]. 45* 46,XX,t(8;22)(q22;q13) [15]/46,XX [5] N N N N 20 46,XY,del(7)q21q31) [2]/46,XY [19] N N ND ND 46 47,XX,+X, der(4) t(4;17)(p16;q11), N N ND ND del(7)(q32), t(6;14)(p12;q32), t(8;15) 21 46,XX,del(7)(q21q31) [3]/46,XX [17] N N DEL N (q12;q26) [15]/46,XX [22 ] 22 46,XY [12] N +12 N N 47* 46,XY,del(7)(q22),add(12)(p13)[10]/ N N DEL N 46,XY[10] 23 45,X,-Y [5]/46,X,-Y,+3 [4]/46,XY [14] +3 N N N *Patients in whom RxFISH was applied to define the karyotype.
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