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Se reporta caso de una paciente femenina de 59 años quien ingresó al Servicio de Cirugía Plástica del Hospital San Juan de Dios, por historia de quemadura de tercer grado que afectó el 25% del área corporal total, quien a las 48 horas post transfusión de glóbulos rojos empacados presentó cuadro de disnea asociado a hipotensión que requirió uso de ventilación mecánica y vasopresores. Posterior a un realizar un diagnóstico diferencial exhaustivo, se cataloga como lesión pulmonar aguda post transfusional (TRALI)

Introduction: BP of PV presents with dyserythropoiesis, including ring sideroblasts, and bilineage dysplasia in most cases. Clonal evolution or acquisition of new cytogenetic clone(s) plays a critical role in progression to BP of PV. SF3B1 mutation is associated with 75% of MDS with ring sideroblasts (RS). We hypothesized that an increase in ring sideroblast counts is an early event in the BP evolution. We postulate that genomic lesions other than in splicing factors genes are implicated in RS development in PV during BP evolution. Methods: We identified all cases in the last 14 years (2004 - 2018) with a diagnosis of PV in the MDACC files. We collected demographic, clinical, morphological, cytogenetic, and NGS information from 61 patients who developed BP progression from PV. We did an assessment and scoring of all bone marrow (BM) samples available at BP evolution. Results: A total of 61/477 (13%) patients with diagnosis of BP of PV were identified. Median age at BP diagnosis was 67 yrs. (32-82). This included 34 (56%) men and 27 (44%) women. At BP presentation, median BM blast percentage was 28%; 51 (84%) patients had BM dysplasia; 35 patients (69%) with dyserythropoiesis, 22 (43%) cases showed bilineage dysplasia. At BP, 43 pts had complex CG, 9 were were normal karyotype, 3 had double and 5 had single abnormalities. Prussian blue stain for Iron evaluation was available in 54 patients (89%); 24 patients (44%) had 0% RS; 19 patients (35%) had 1-14% RS; and 11 pts (20%) had >15% RS. Mutation analysis for splicing factor was performed on 13 patients. Of these, 2 patients with >15% RS had SRSF2 mutation and 1 patient with 6% RS had SF3B1 mutation. The other patients were wild type for SF3B1, SRSF2, U2AF1 (5 patients: >15% RS, 2 patients: 1-14% RS and 3 patients: 0% RS). Twenty-four (39%) patients had BM available before the BP diagnosis; median time between first BM at MDACC and BP BM diagnosis was 35 months (range, 1-135). At Baseline BM assessment, median BM blast was 3%; 13 (54%) patients had BM dysplasia. Prussian blue stain for Iron evaluation was available in 13 pts (55%): 10 pts (77%) had 0% RS and 3 pts (23%) had 1, 3, and 60% RS, respectively. To evaluate the level of RS during disease evolution we identified 10/26 pts who had at least 1 BM sample available between the first BM and the BP. 5/10 pts were in spent phase with increased blast, multilineage dysplasia and complex CG (RS: 6%, 25%, 0%, 1% and 50%) median time between samples 5 months. 4/10 pts had 1-4% blast, isolated dyserythropoiesis and normal diploid CG (RS: 12%, 5%, 2% and 0%). The median time between samples was 56 months. The last pt. had 0% blast, no dysplasia, del(20q) on CG and no RS. Pt. developed BP of PV 41 months after this follow up sample. Ten pts with PV chronic phase and were used as control group, median follow up of 14,5 yr. None of the patients had RS at baseline or at last follow up BM. Median time between samples 6 yrs. RS increase during PV evolution were statistically significant more frequent in pts who develop BP than in pts who remain in chronic phase of PV (7/10 vs. 0/10. P=0.003) Conclusion: Splicing factor gene mutation is infrequent in BP of PV despite the presence of dyserythropoiesis and frequent RS in 55% of patients. When present , RS may identify disease evolution and correlate with the disease phase of PV before BP. Dyserythropoiesis and the acquisition of RS is an early event BP of PV that precede other markers of disease progression like CG. Disclosures No relevant conflicts of interest to declare.

Introduction: Blast phase (BP) of polycythemia Vera (PV) develops in 10-15% of cases at 10 years. Myeloid BP frequently presents with myelodysplasia (88%) and is associated with poor prognosis, median OS of 4 months. De novo JAK2 mutated (mut) AML usually presents with multilineage dysplasia and median OS of 14 months. We hypothesize that cytogenetics (CG) and molecular profile can aid in the distinction of these different entities with similar clinical phenotype. We compared the molecular profile by targeted next-generation sequencing (NGS) of de novo JAK2mut AML and JAK2mut BP of PV. Methods: We identified all cases with diagnosis of (1) de novo JAK2mut AML (2) JAK2mut BP of PV in the MDACC files in the last 14 years (2004 - 2018) using WHO 2016 criteria. We collected demographic, clinical, morphological, cytogenetic (CG), and NGS data. Results: A total of 23 patients were included. 11 pts were de novo AML with JAK2mut and 12 pts were JAK2mut BP-PV. Median age at diagnosis was 73 and 67 yrs, respectively. At AML presentation, median bone marrow (BM) blast percentage was 40% and 28%, respectively. BM dysplasia was present in all patients in at least one lineage. ELN risk stratification for CG risk in de novo AML JAK2mut showed: 5 pts (45%) as adverse, 4 pts (36%) intermediate and 2 (18%) favorable as risk category; in JAK2mut BP-PV, 9 pts (75%) were adverse and 3 pts (25%) intermediate risk. Median allelic frequency for JAK2mut AML was 32% vs. 64% in BP-PV. In de novo AML with JAK2mut, none of pts 0/11 (0%) harbored mutations in the activating signaling genes other than JAK2; in JAK2mut BP-PV 3/12 patients (25%) had mutations other than JAK2 [NRAS (2 pts) and PTPN11]. In de novo AML with JAK2mut, epigenetic modifier genes were more frequently mutated 4/11 (36%) [ASXL1 (3 pts) and EZH2] than in JAK2mut BP-PV 1/12 (8%) (ASXL1 and EZH2). DNA methylation genes showed no difference in the frequency of mutations in de novo AML JAK2mut, 6/11 (54%) [DNMT3A, TET2 (2 pts), IDH1 (2 pts), IDH2 (2 pts)] vs. JAK2mut BP-PV, 8/12 (66%) [DNMT3A (3 pts), TET2 (4 pts), IDH1 (2 pts), IDH2 (3 pts)]. Mutations in myeloid transcription genes were similar between JAK2mut AML 2/8 (25%) [RUNX1 (2pts)] and JAK2mut BP-PV 4/12 (33%) [RUNX1 (4 pts)]. The presence of mutated TP53 in de novo AML with JAK2mut was 1/11 (9%) vs. 7/12 (58%) in JAK2mut BP-PV, (p = 0.02), respectively. Spliceosome mutations were more frequent in de novo AML with JAK2mut 4/8 (50%) [SRSF2 (4 pts)], than JAK2mut BP-PV 2/8 (25%) (SRSF2, SF3B1), respectively. Conclusion: Myeloid BP of PV presents with distinct molecular profile that includes increased frequency of TP53 mutations and adverse genetics by ELN risk stratification while de novo AML with JAK2 mutations shows increased frequency spliceosome mutations. These molecular features aid in the differentiation of BP of PV from JAK2mut AML that have similar phenotype but different prognosis and require aggressive intervention. Disclosures No relevant conflicts of interest to declare.

Introduccion: Se planteo la necesidad de realizar un trabajo que describiese el tipo de tratamiento utilizado en la purpura trombocitopenica inmunologica (PTI) asi como las respuestas a dichos tratamientos. Materiales y Metodos: Se diseno uno retrospectivo, observacional, longitudinal y descriptivo donde se estudio los pacientes con diagnostico de PTI desde 2008 hasta 2012, en el Servicio de Hematologia. Se realizo un seguimiento por un ano y se valoro la respuesta al tratamiento de primera linea, asi como a los demas esquemas en quienes fueron refractarios o presentaron recaida. Se describio los principales hallazgos del AMO y la presencia de coinfeccion por virus comunes. Resultados: 51 pacientes cumplieron los criterios de inclusion. No hubo diferencias significativas en la respuesta al tratamiento de primera linea respecto a edad, genero, presencia de comorbilidades, conteo plaquetario al diagnostico o esquema de tratamiento utilizado. 12% fue refractario, pero todos respondieron al tratamiento de segunda linea sin diferencias entre los tipos utilizados. Doce pacientes (23%) presentaron un episodio de recaida en promedio a los 74.3 dias. La mayoria de AMO fueron normales y solamente 2 pacientes resultaron positivos para CMV y 1 para VIH. Conclusiones: El tratamiento utilizado como primera linea no difiere de forma importante del recomendado por las guias. En cuanto a la segunda y tercera lineas no hay una uniformidad en la eleccion del mismo, con diferencia respecto a las guias, a pesar de un adecuado resultado terapeutico.