Clinical characteristics and management of paroxysmal nocturnal haemoglobinuria in Latin America: a narrative review.

Paroxysmal nocturnal haemoglobinuria (PNH) is a rare, complement-associated, haematological disorder. The level of knowledge about the disease and its management varies around the world. This narrative review provides an overview of available clinical data on PNH in Latin America (LATAM). A search of the PubMed, EMBASE and LILACS/IBECS databases to February 2023, and addition of author-known articles, yielded 24 relevant published articles, the majority (n = 15) from Brazil. Fourteen articles were full papers; 10 were conference abstracts. The prevalence of PNH in Brazil is estimated at 1:237,000 inhabitants. Among blood samples sent for flow cytometry screening for suspected PNH in Brazil and Colombia, 14 - 30% were positive. There is suggestion that disease subtypes may differ among LATAM populations, with classical PNH more common in Brazilian patients and PNH with aplastic anaemia more common in Mexican patients. Median age at diagnosis of PNH ranged from 24 to 41 years. Common symptoms included fatigue, haemoglobinuria, and abdominal pain, although the symptom profile varied by subtype. Three available studies indicated that eculizumab was effective at reducing haemolysis, improving anaemia, and reducing the risk of thrombosis in patients with PNH with intravascular haemolysis. A consensus document from the Brazilian Association of Hematology, Hemotherapy and Cell Therapy RBC and Iron Committee provides guidance on identifying and managing PNH patients, including appropriate selection of patients for eculizumab. Additional data on the epidemiology, natural history and outcomes of patients with PNH in LATAM countries are needed to better understand the disease and its management throughout the region.

Epidemiological and clinical characteristics of adult acute lymphoblastic leukemia patients in Chile: A single-center analysis.

Background: Acute lymphoblastic leukemia represents 20% of acute leukemias in adults. Currently, there is limited data in Chile regarding the clinical, cytogenetic, and prognostic characteristics of this condition. Methods: This is a retrospective, observational, and descriptive study of 67 patients treated for acute lymphoblastic leukemia at the Arturo Lopez Perez Foundation between 2018 and 2021. The main objective is to evaluate epidemiological and clinical characteristics, as well as identifying factors associated with improved overall survival and/or progression-free survival. Results: 88% of the cases were B-lineage, mainly the common B phenotype. Cytogenetic analysis was performed in less than 50% of the patients, with lower yield than expected according to the literature. Molecular testing was performed in 86.5% of the patients, with the most frequent alteration being BCR-ABL. No study was performed to search for Ph-like abnormalities. The rate of complete response after induction was 83.3%, the majority of patients having negative minimal residual disease. Only 12% of the patients received consolidation with allogenic bone marrow transplant. At 2 years, the overall survival was 69% and the progression-free survival was 59%. Conclusion: The results in terms of overall survival and progression-free survival are similar to those reported in the literature. Important diagnostic gaps prevent adequate prognostic characterization. Allogeneic consolidation transplantation was performed in a lower percentage than expected, highlighting the national deficit in access to this treatment.

Actualización en el diagnóstico y estratificación de pacientes con Leucemia Mieloide Aguda: una necesidad país imperiosa / Update on the Diagnosis and Stratification of Patients with Acute Myeloid Leukemia: An Urgent National Need

La leucemia mieloide aguda es una neoplasia con una elevada letalidad, con resultados inferiores en nuestro país respecto a la experiencia internacional publicada, posicionándola como una prioridad desde el punto de vista de salud pública oncológica. Actualmente, para su diagnóstico y estratificación se dispone de citología, inmunofenotipo, cariograma y escasas traslocaciones/mutaciones por biología molecular. Esta aproximación diagnóstica es insuficiente, ya que nos permite clasificar menos del 50% de los pacientes en un grupo específico y, por lo tanto, la elección de la terapia de consolidación se realiza con escasa información biológica. El rol de la morfología y de la citogenética progresivamente pierden relevancia pronóstica con respecto a la biología molecular, y la secuenciación de siguiente generación se ha posicionado como un elemento clave para el diagnóstico y estratificación de riesgo de estos pacientes. Además, la pesquisa de mutaciones germinales ha ido adquiriendo mayor relevancia, aumentando su frecuencia de detección e influyendo en la toma de decisiones respecto al tratamiento y en la selección de donante emparentado para un trasplante alogénico. En esta revisión se realiza una actualización del diagnóstico integrado de pacientes con leucemia mieloide aguda, a la luz de las nuevas clasificaciones diagnósticas (OMS 2022 e ICC 2022) y pronósticas (ELN 2022) y se propone un algoritmo a considerar para su implementación. Es perentorio como país invertir en nuevas tecnologías diagnósticas para mejorar el pronóstico de nuestros pacientes.

Acute myeloid leukemia is a neoplasm with a high lethality, with alarming results in our country, positioning it as a priority from the point of view of oncological public health. Cytology, immunophenotype, karyogram, and a few translocations/mutations by molecular biology are currently available for diagnosis and stratification. This diagnostic approach is insufficient since it allows classifying less than 50% of patients in a specific group. Therefore, consolidation therapy is selected with little biological information. The role of morphology and cytogenetics is progressively losing prognostic weight with respect to molecular biology, and next-generation sequencing has positioned itself as a key element for diagnosing our patients. In addition, the investigation of germline mutations is acquiring greater relevance, increasing its detection frequency and influencing decision-making regarding treatment and selecting a related donor for an allogeneic transplant. In this review, an update of the integrated diagnosis of patients with acute myeloid leukemia is carried out in light of the new diagnostic (WHO 2022 and ICC 2022), and prognostic classifications (ELN 2022). We propose an algorithm for integrated diagnosis to be considered for its implementation. It is imperative as a country to invest in new diagnostic technologies to improve the prognosis of our patients.

[Update on the Diagnosis and Stratification of Patients with Acute Myeloid Leukemia: An Urgent National Need]. / Actualización en el diagnóstico y estratificación de pacientes con Leucemia Mieloide Aguda: una necesidad país imperiosa.

Acute myeloid leukemia is a neoplasm with a high lethality, with alarming results in our country, positioning it as a priority from the point of view of oncological public health. Cytology, immunophenotype, karyogram, and a few translocations/mutations by molecular biology are currently available for diagnosis and stratification. This diagnostic approach is insufficient since it allows classifying less than 50% of patients in a specific group. Therefore, consolidation therapy is selected with little biological information. The role of morphology and cytogenetics is progressively losing prognostic weight with respect to molecular biology, and next-generation sequencing has positioned itself as a key element for diagnosing our patients. In addition, the investigation of germline mutations is acquiring greater relevance, increasing its detection frequency and influencing decision-making regarding treatment and selecting a related donor for an allogeneic transplant. In this review, an update of the integrated diagnosis of patients with acute myeloid leukemia is carried out in light of the new diagnostic (WHO 2022 and ICC 2022), and prognostic classifications (ELN 2022). We propose an algorithm for integrated diagnosis to be considered for its implementation. It is imperative as a country to invest in new diagnostic technologies to improve the prognosis of our patients.

[Characterization of patients with Philadelphia negative myeloproliferative neoplasms and concomitant monoclonal gammopathies: Just coincidence?] / Caracterización de pacientes con Neoplasias mieloproliferativas Philadelphia negativas y Gammapatias monoclonales concomitantes ¿Sólo coincidencia?

Philadelphia negative myeloproliferative neoplasms [MPN Ph (-)] and monoclonal gammopathies (MG) stem from different hematopoietic progenitor lines. The association between both has a frequency between 3 to 14%, and it has been associated with a higher risk of thrombosis. This study aimed to describe the clinical characteristics of patients with both entities at our center. METHODS: Retrospective observational study of case series. The MPN Ph (-) database of our center between 2015 and 2020 was consulted. The clinical records were reviewed, obtaining demographic, clinical, and management determinants. Descriptive statistical analysis was performed. RESULTS: Among 144 patients, 6 patients diagnosed with MG and MPN were found, all of them female. The median age was 71 years at diagnosis of MPN Ph (-) and 70 years at diagnosis of MG. Two were diagnosed concomitantly with both pathologies, in 2 the MG preceded the MPN, and in 2 the MPN was previously diagnosed. No patient has progressed to acute leukemia or myelofibrosis. Regarding the treatments received, all received Hydroxicarbamide, some with aspirin and one with anticoagulation. Of the MGs, one patient with solitary bone plasmacytoma progressed to multiple myeloma, requiring treatment after 2 years. Two had a thrombotic event, both arterials. CONCLUSION: The observed MG frequency of 4% was similar to what was expected for the age of the patients. Although it is noteworthy that 2 had thrombotic events, further studies are needed to evaluate this association.

Survival and response deepening after autologous transplantation in patients with multiple myeloma in Chile.

BACKGROUND: Autologous hematopoietic stem cell transplantation (ASCT) is the standard of care in candidate patients with newly diagnosed multiple myeloma. In Chile, its indication has been expanding as have centers dedicated to this type of therapy. Here, we present the results of the first 50 patients from a Chilean reference center. METHODS: This was a retrospective analytical study of 50 patients referred to the Arturo López Pérez Foundation to receive ASCT. Patients newly diagnosed or on subsequent lines of treatment were allowed. As primary objectives, the deepening of response with ASCT and subsequent results on overall survival and progression-free survival were analyzed. RESULTS: Among 50 patients with a median follow-up of 24 months, ASCT managed to deepen responses going from at least very good partial response of 57.4%-82.5% (p = .01); complete response increased from 27.6% to 52.5% (p = .02). In turn, a median progression-free survival (PFS) of 39 months was estimated and the median overall survival was not reached. The most important factor predicting PFS is measurable residual disease. CONCLUSIONS: ASCT is an effective strategy for prolonged progression-free survival and deepening responses. Public-private collaboration is a crucial element in reducing the gaps in access to this type of complex but highly effective therapy.