Francesc Solé

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Dr. Solé is one of the world’s leading authorities on Cytogenetics in Myelodysplasia. He was involved in the recent IPSS-R. Dr. Solé is a reviewer of the following journals: Blood, Leukemia, Genes Chromosomes and Cancer, Haematologica, Leukemia Research, Leukemia and Lymphoma . He is associated professor in Universitat Pompeu Fabra (Barcelona) and Universitat Autònoma de Barcelona (Bellaterra). From 1996 until 2008 was the coordinator of the Spanish Cytogenetic in Hematoloogy Working Group. From 2004 until 2012 was member of the Steering Committee of the Hematologic Quality Control in Eurogenest. Actually is the Scientific Director of Institut de la Recerca contra la Leucèmia Josep Carreras-Campus ICO-GTiP, Director of the Cytogenetic Platform and Director of the MDS Group.

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Alokmay Datta

Saha Institute of Nuclear Physics

PROF. OM PRAKASH SINHA

Amity University

Virginie Boucher

CSIC (Consejo Superior de Investigaciones Científicas-Spanish National Research Council)

Nor Hayati Othman

Universiti Sains Malaysia

Abril Saldaña Tejeda

Universidad de Guanajuato

Graham Colditz

Washington University in St. Louis

Alberto Salazar-Granara

Universidad San Martín De Porres

Nia Kurniati

University of Indonesia

Muhammad Khusairy Bakri

Washington State University

Prof Henry Ademola Adeola

University of Cape Town

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Papers by Francesc Solé

Cytogenetic and fluorescence in situ hybridization studies in 60 patients with multiple myeloma and plasma cell leukemia

Cancer genetics and cytogenetics, 2004

... Author Contact Information , E-mail The Corresponding Author , a , b , Isabel Granada c , Lur... more ... Author Contact Information , E-mail The Corresponding Author , a , b , Isabel Granada c , LurdesZamora a , Blanca ... f Servei d&amp;amp;amp;#x27;Hematologia Clíínica, Hospital del MarIMAS, Barcelona, Spain. ... 3. JL Laï, M. Zandecki, JY Mary, F. Bernardi, V. Izydorczyk, M. Flactif, P. Morel, JP Jouet ...

Characterization of New Aberrations in 25 Splenic Marginal Zone B-Cell Lymphomas (SMZBCL) Using Spectral Karyotyping Technique (SKY)

Blood, Nov 16, 2005

BACKGROUND/INTRODUCTION Splenic Marginal Zone B-Cell Lymphoma (SMZBCL) is a specific low grade sm... more BACKGROUND/INTRODUCTION Splenic Marginal Zone B-Cell Lymphoma (SMZBCL) is a specific low grade small B-cell lymphoma described by the World Health Organization (WHO). SMZBCL has distinct features from other B-cell malignancies, but few studies include a large series of patients. Previous reports suggest that SMZBCL constitute a genetically heterogeneous disease being 7q22-q32 deletions and gains of 3q the most frequent cytogenetic aberrations. Karyotypes are often complex and difficult to interpret. Other recurrent chromosomes involved are 1 and 8. Nevertheless, at this cytogenetic level few studies have been reported and the possible chromosome markers are not still well defined. OBJECTIVES The aim of this study is to define karyotypes from patients with SMZBCL by SKY technique. PATIENTS AND METHODS Among a series of 138 patients we have selected 25 with undefined karyotype. The diagnosis of SMZBCL was confirmed by morphology, histology, phenotype and clinical data. All samples were obtained from peripheral blood, bone marrow or spleen. The current SKY protocol has been used with minor modifications to improve the spectral image. We analyzed a minimum of ten metaphases per karyotype and they were described according to the International System for Human Cytogenetic Nomenclature (ISCN). RESULTS All the studied karyotypes were complex with chromosome aberrations which, in most cases, were not fully characterized by G-banding. SKY has allowed to refine chromosomal aberrations and revealed new translocations which were not defined by conventional cytogenetics. In nine cases, the karyotype remained unchanged after SKY analysis and in the remaining cases, new aberrations were described. We observed that the most common involved chromosomes in translocations were 14, 6, 13 and 17. CONCLUSIONS SKY provides a useful complementary technique to routine conventional cytogenetics in the analysis of lymphomas with complex karyotypes. SKY will permit to reveal new translocations associated with SMZBCL. The following new translocations involving 14q32 were found: t(1;14)(p22;q32), t(1;14)(q21;q32), t(9;14)(?;q32), t(9;14)(9pter-9p21::14q32-14q11::9p24-9qter), t(9;14)(p21;q32), t(10;14)(p12;q32), t(14;19)(q32;q13).

Contribution of cytogenetics and in situ hybridization to the study of monoclonal gammopathies of undetermined significance

Cancer genetics and cytogenetics, 2002

Monoclonal gammopathies of undetermined significance (MGUS) are characterized by the presence of ... more Monoclonal gammopathies of undetermined significance (MGUS) are characterized by the presence of a monoclonal protein in serum in quite asymptomatic patients. Ten to 33% of MGUS patients eventually will develop overt multiple myeloma, but no single laboratory test exists that can predict changes toward a malignant evolution. The aim of the present study was to apply conventional cytogenetics, the MAC (morphology, antibody, chromosome) method and fluorescence in situ hybridization (FISH) techniques in a series of 50 MGUS patients and 4 &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;quot;smoldering&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;quot; multiple myeloma patients to test the usefulness of their approaches as predictive methodologies. All patients studied by conventional cytogenetics presented a normal karyotype independent of the culture conditions used. The MAC method revealed that all mitotic cells showing a normal karyotype were positive for anti-MOP7 or anti-CD3 in 12 patients studied. In addition, two of them presented a numerical abnormality detected by FISH. Using a FISH technique with direct labeled centromeric probes for chromosomes 3, 7, 11, and 18 we showed a numerical abnormality in eight of 35 patients (23%) with a normal karyotype. The common occurrence of MGUS and the fact that they may evolve toward lymphoproliferative disorders displays the importance of being able to identify laboratory results that are capable of predicting the evolution of these patients. In the literature, patients who presented an IgA peak of immunoglobulin type have been associated with a higher risk of evolving to a malignant condition. Our study shows the correlation of MGUS patients who presented monosomy 18 with the presence of an immunoglobulin peak of the IgA type. Prospective follow-up is needed to evaluate the clinical value of monosomy 18 as a predictive factor for defining a high risk of malignant transformation in MGUS patients.

Impact of somatic mutations in myelodysplastic patients with isolated partial or total loss of chromosome 7

Leukemia, Feb 17, 2020

Monosomy 7 [−7] and/or partial loss of chromosome 7 [del(7q)] are associated with poor and interm... more Monosomy 7 [−7] and/or partial loss of chromosome 7 [del(7q)] are associated with poor and intermediate prognosis, respectively, in myelodysplastic syndromes (MDS), but somatic mutations may also play a key complementary role. We analyzed the impact on the outcomes of deep targeted mutational screening in 280 MDS patients with −7/del(7q) as isolated cytogenetic abnormality (86 with del(7q) and 194 with −7). Patients with del(7q) or −7 had similar demographic and diseaserelated characteristics. Somatic mutations were detected in 79% (93/117) of patients (82% in −7 and 73% in del(7q) group). Median number of mutations per patient was 2 (range 0-8). There was no difference in mutation frequency between the two groups. Patients harbouring ≥2 mutations had a worse outcome than patients with <2 or no mutations (leukaemic transformation at 24 months, 38% and 20%, respectively, p = 0.044). Untreated patients with del(7q) had better overall survival (OS) compared with −7 (median OS, 34 vs 17 months, p = 0.034). In multivariable analysis, blast count, TP53 mutations and number of mutations were independent predictors of OS, whereas the cytogenetic subgroups did not retain prognostic relevance. This study highlights the importance of mutational analysis in terms of prognosis in MDS patients with isolated −7 or del(7q).

Francesc Solé

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