Sole, F. (Francesc)
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- Spanish guidelines for the use of targeted deep sequencing in myelodysplastic syndromes and chronic myelomonocytic leukaemia(2019) Cedena, M.T. (María Teresa); Zamora, L. (Lurdes); Cervera, J. (Jose); Cigudosa, J.C. (Juan Cruz); Fernandez-Mercado, M. (Marta); Palomo, L. (Laura); Alvarez, S. (Sara); Sole, F. (Francesc); Hernandez, J.M. (J. M.); Ibáñez, M. (Mariam); Acha, P. (Pamela); Such, E. (Esperanza); Tazón-Vega, Bárbara; Valcarcel, D. (David); Benito, R. (Rocío); Rapado, I. (Inmaculada); Cabezón, Marta; Vazquez, I. (Iria); Hernandez-Rivas, J.M. (Jesús M.); Larrayoz, M.J. (María J.); Fuster-Tormo, F. (Francisco); Calasanz-Abinzano, M.J. (Maria Jose); Sanz, G. (Guillermo); Abaigar, M. (María)The landscape of medical sequencing has rapidly changed with the evolution of next generation sequencing (NGS). These technologies have contributed to the molecular characterization of the myelodysplastic syndromes (MDS) and chronic myelomonocytic leukaemia (CMML), through the identification of recurrent gene mutations, which are present in >80% of patients. These mutations contribute to a better classification and risk stratification of the patients. Currently, clinical laboratories include NGS genomic analyses in their routine clinical practice, in an effort to personalize the diagnosis, prognosis and treatment of MDS and CMML. NGS technologies have reduced the cost of large-scale sequencing, but there are additional challenges involving the clinical validation of these technologies, as continuous advances are constantly being made. In this context, it is of major importance to standardize the generation, analysis, clinical interpretation and reporting of NGS data. To that end, the Spanish MDS Group (GESMD) has expanded the present set of guidelines, aiming to establish common quality standards for the adequate implementation of NGS and clinical interpretation of the results, hoping that this effort will ultimately contribute to the benefit of patients with myeloid malignancies.
- De novo erythroleukemia chromosome features include multiple rearrangements, with special involvement of chromosomes 11 and 19(Wiley-Blackwell, 2003) Cigudosa, J.C. (Juan Cruz); Urioste, M. (Miguel); Benitez, J. (Javier); Alvarez, S. (Sara); Sole, F. (Francesc); Cervera, J.V. (Jose V.); Nimer, S.D. (Stephen D.); Martinez-Ramirez, A. (Angel); Sanz, M.A. (Miguel A.); Calasanz-Abinzano, M.J. (Maria Jose); Salido, M. (Marta); MacGrogan, D. (Donald); Arranz, E. (Eva); Odero, M.D. (Maria Dolores)Erythroid leukemia (ERL or AML-M6) is an uncommon subtype of acute myeloid leukemia, the clinical, morphological, and genetic behavior of which needs further characterization. We analyzed a homogeneous group of 23 de novo AML-M6 patients whose bone marrow cells showed complex karyotypes. We also analyzed eight leukemia cell lines with erythroid phenotype, performing detailed molecular cytogenetic analyses, including spectral karyotyping (SKY) in all samples. The main features are: (1) A majority of patients (56%) had hypodiploidy. Loss of genetic material was the most common genetic change, especially monosomies of chromosome 7 or 18, and deletions of chromosome arm 5q. Taken together, 87% of the cases displayed aberrations involving chromosome 5 or 8. (2) We describe a novel, cryptic, and recurrent translocation, t(11;19)(p11.2;q13.1). Another translocation, t(12;21)(p11.2;q11.2), was found to be recurrent in a patient with ERL and in the K562 cell line. (3) MLL gene rearrangements were detected in 20% of cases (three translocations and three amplifications) and, overall, we defined 52 rearrangements (excluding deletions) with a mean of 2.3 translocations per patient. (4) Of the structural aberrations, 21% involved chromosomes 11 and 19. Most of the rearrangements were unbalanced; only 13 reciprocal translocations were observed. The general picture of chromosomal aberrations in cell lines did not reflect what occurred in patient samples. However, both primary samples and cell lines shared three common breakpoints at 19q13.1, 20q11.2, and 21q11.2. This is the first molecular cytogenetic description of the karyotype abnormalities present in patients with ERL. It should assist in the identification of genes involved in erythroleukemogenesis.
- Cytogenetic analysis of 280 patients with multiple myeloma and related disorders: primary breakpoints and clinical correlations(Wiley-Blackwell, 1997) Cigudosa, J.C. (Juan Cruz); Carrasco, J. (J.L.); Sole, F. (Francesc); Ferreira, C. (C.); Cuesta, B. (Braulia); Ardanaz, M.T. (M.T.); Calasanz-Abinzano, M.J. (Maria Jose); Odero, M.D. (Maria Dolores); Gullon, A. (Arturo); Fraile, A. (A.)Cytogenetic analysis of unstimulated short-term bone marrow cell cultures was performed on 280 patients with multiple myeloma and related disorders. In 65% of the cases, an additional short term B-cell stimulated culture was also examined. Chromosomally abnormal clones were found in 31% of the patients, 15% in Waldenström macroglobulinemia. 25% in monoclonal gammopathies, 33% in multiple myeloma, and 50% in plasma cell leukemia. Three primary chromosomal breakpoints were recurrently involved: 14q32, 16q22, and 22q11. Structural rearrangements of chromosome 1 were the most frequent (26% of the abnormal cases), but always as a secondary change. Rearrangements of band 14q32 were found in 22% of the abnormal cases. Among the multiple myeloma patients who showed an abnormal karyotype, 33 (46%) were hyperdiploid, most frequently, with 52-56 chromosomes, 29 patients (40%) were pseudodiploid, and the remaining 12 cases (14%) were hypodiploid. A highly significant relation was observed between the presence of an abnormal karyotype and the following clinical parameters: stage III (P = 0.0001), bone marrow plasma cell infiltration greater than 30% (P = 0.0001), presence of bone lesions (P = 0.0009), and beta 2-microglobulin levels greater than 4 mg/L (P = 0.0001).
- The relationship of TP53 R72P polymorphism to disease outcome and TP53 mutation in myelodysplastic syndromes(2015) Kulasekararaj, A. (A.); Haferlach, T. (Torsten); Cervera, J. (Jose); Mufti, G. (G.); List, A.F. (A.F.); Wei, S. (S.); Epling-Burnette, P.K. (P.K.); Kurtin, S.E. (S.E.); Rawal, B. (B.); Sole, F. (Francesc); Maciejewski, J.P. (J.P.); Zhang, L.M. (L.M.); Basiorka, A.A. (A.A.); Fulp, W. (W.); Lin, H.Y. (H.Y.); Zhang, Y. (Yi); Such, E. (Esperanza); Rollison, D.E. (D.E.); Smith, A.E. (A.E.); Sokol, L. (L.); Jerez, A. (A.); Gonzalez, T. (T.); Guinta, K. (K.); Billingsley, D.L. (D.L.); Nevill, T.J. (T.J.); Karsan, A. (A.); Calasanz-Abinzano, M.J. (Maria Jose); Yoder, S. (S.); Mallo, M. (M.); McGraw, K.L. (K.L.)Nonsynonymous TP53 exon 4 single-nucleotide polymorphism (SNP), R72P, is linked to cancer and mutagen susceptibility. R72P associations with specific cancer risk, particularly hematological malignancies, have been conflicting. Myelodysplastic syndrome (MDS) with chromosome 5q deletion is characterized by erythroid hypoplasia arising from lineage-specific p53 accumulation resulting from ribosomal insufficiency. We hypothesized that apoptotically diminished R72P C-allele may influence predisposition to del(5q) MDS. Bone marrow and blood DNA was sequenced from 705 MDS cases (333 del(5q), 372 non-del(5q)) and 157 controls. Genotype distribution did not significantly differ between del(5q) cases (12.6% CC, 38.1% CG, 49.2% GG), non-del(5q) cases (9.7% CC, 44.6% CG, 45.7% GG) and controls (7.6% CC, 37.6% CG, 54.8% GG) (P = 0.13). Allele frequency did not differ between non-del(5q) and del(5q) cases (P = 0.91) but trended towards increased C-allele frequency comparing non-del(5q) (P = 0.08) and del(5q) (P = 0.10) cases with controls. Median lenalidomide response duration increased proportionate to C-allele dosage in del(5q) patients (2.2 (CC), 1.3 (CG) and 0.89 years (GG)). Furthermore, C-allele homozygosity in del(5q) was associated with prolonged overall and progressionfree survival and non-terminal interstitial deletions that excluded 5q34, whereas G-allele homozygozity was associated with inferior outcome and terminal deletions involving 5q34 (P = 0.05). These findings comprise the largest MDS R72P SNP analysis.