Browsing by Autor "Wendy Cabrera"

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Genetics of Multiple Myeloma in Latin America
(Elsevier BV, 2022) Paola Leone; Virginia Abello; Cristian Gerardo Alvarado; J. D. Ruiz Alvarez; Gabriel Borelli; Maria Elena Del Rocio Buenaño; Wendy Cabrera; Fernando Camacho; Milton Rafael Carranza Orellana; Denisse Castro
Multiple Myeloma (MM) is a plasma cell tumor, occurs more commonly in men than in women, differences in incidence by ethnic group have been reported, and exposure to different genotoxic agents has been described as risk factors. Epidemiological and genetic studies of MM in Latin America are scarce, so we created the Ibero-American Network for Multiple Myeloma Research (REDIMM), for the exchange and dissemination of information, standardization of protocols and genetic technologies. Eighteen countries were invited and after 5 years of work, REDIMM has 11 participating countries. Each country, with the exception of the United States whose representative explains the palliative care model, presents demographic, clinical laboratory, genetic, and type of treatment information. Each country manages the MM according to the conditions of the environment and the health system; however, the communication between the countries of the network allows the transfer of knowledge that is beneficial in the diagnosis and follow-up. The countries that make up the REDIMM would like to have more technology to make an early and accurate diagnosis of MM. However, the scenario of many Latin American countries is the lack of clinical laboratory tests and in some the total absence of genetics laboratories. In addition, the difficulties for diagnosis are added that it is usually late since patients move to large cities in advanced stages. The research shows that MM has a lower incidence than reported in North America and Europe, a low incidence of monoclonal gammopathy of uncertain significance in the region is described, younger patients than described in other populations are observed, and a relationship between exposure to genotoxics and the development of this cancer is evident. Non-hyperdiploid cases with a worse prognosis predominate, access to treatment is limited and survival time is shorter than reported in the United States and Europe. In Ecuadorian mestizo populations, differences in age and gender ratio are observed according to the predominant ancestry component studied by AIMs-INDELs. We conclude that characterizing the situation of the MM in Latin America will have an immediate and medium-term benefit for all participating institutions, and we hope in Latin America, which will have a favorable impact on myeloma patients.
PB1960 CHRONIC MYELOID LEUKEMIA DEVELOPING AFTER SYSTEMIC MASTOCYTOSIS: FAST AND COMPLETE MOLECULAR RESPONSE INDUCED BY IMATINIB.
(Wolters Kluwer, 2019) А. Н. Савчук; Wendy Cabrera; Eva Solá; Javier Cornago; Juan Francisco Del Campo; López Pereira P; Alberto Órfão; Iván Álvarez‐Twöse; Juan Luis Steegmann
Background: We present here the case of a 52 year old male patient who was diagnosed of D816 V + indolent systemic mastocytosis in 2006. The patient received only symptomatic treatment with fexofenadine, sodium cromoglycate, and ranitidine. In November 7th 2016, mild leukocytosis was detected in one of the screenings. The patient had not symptoms or signs of CML or mastocytosis. WBC was 14.04 x 109/L, Hb: 15,5 g/dl; Platelet 832 x 109/L. Serum tryptase was normal (5.4 ng/ml). led to the diagnosis of Ph1+, BCR-ABL, e14a2 positive CML. Cytologic exam of the bone marrow (BM) disclosed a typical picture of chronic phase of CML and 0.2% mastocytes. Karyotyping disclosed typical t(9;22) in 95% of the BM metaphases. Mutational analysis. Mastocytes and CD34+ cells were sorted by FACSAria. The mutation D816 V (pAsp816/Val) was assessed by PNA-PCR and NGS, and was not detected either in CD34+ cells, or in mastocytes (this last result being not conclusive, because of the low number of mastocytes present in the BM (675 cells). Jak2V617F was not present.BCR-ABL detection. RT-PCR in BM disclosed e14a2 transcript. FISH analysis was performed in the sorted populations, and was detected in CD34+ (84%), Monocytes (61%), neutrophils (88%), eosinophils (73%), and mesenchymal cells (16%). It was negative in lymphocytes, and although 8 out of 18 mastocytes were positive, this percentage was inconclusive. Aims: To describe an extremely rare case of Chronic myeloid leukemia developing after systemic mastocytosis. Methods: NA Results: Hydrea was used from January 10 th to April 21 st 2017, and Imatinib 400 QD was started four days later.Table 1 depicts the evolution of molecular response. The treatment obtained major molecular response, MR4, and MR5 in 3, 6 and 9 months respectively.MR5 was sustained at 18 months of imatinib treatment. Serum tryptase diminished, probably because of the effect of imatinib on wild-type c-Kit.AEs were all of grade 1, and included eye-lid edema, weight gain, and vomiting.Summary/Conclusion: The case here described is the second case reported of CML arising in a patient with D816 V mastocytosis. In 2005, Agis et al reported one case of typical CML with concurrent systemic, D816 V mastocytosis. In that case Imatinib treatment resulted in complete cytogenetic response 1. In our case, in spite of the presence of mastocytes in BM, we did not detect either the D816 V mutation, or the BCR-ABL signal in the mastocytes. The absence of D816 V in CD34 cells support the notion that BCR-ABL translocation is independent to the previous existence of SM. This independence is also sustained by the extreme rarity of this association. From the clinical point of view, our case shows that Imatinib treatment could induce in a very fast deep molecular response, with mild adverse effects, in this extremely rare association.