Presentación clínica de patologías no malignas que simulan leucemia cutis: a propósito de dos casos / Clinical presentation of non-malignant diseases mimicking leukemia cutis: A report of two cases

La infiltración cutánea por células leucémicas conocida como leucemia cutis es una presentación infrecuente de esta patología y constituye un desafío diagnóstico. Los diagnósticos como infecciones, otras patologías neoplásicas con afectación cutánea y los trastornos histiocíticos, entre otros, constituyen los principales diagnósticos diferenciales, ya que configuran un escenario pronóstico y terapéutico diferente. Se presentan dos pacientes que fueron diagnosticados inicialmente como leucemia cutis, cuyo diagnóstico final fue de patologías no malignas.

The infiltration of leukemia cells into the skin, known as leukemia cutis, is a rare presentation of this disease and accounts for a diagnostic challenge. The main differential diagnoses include infections, other neoplastic diseases with skin involvement and histiocytic disorders, among others, as they entail different prognostic and therapeutic approaches. Here we describe two patients who were initially diagnosed with leukemia cutis, whose final diagnosis was of non-malignant diseases.

Oral manifestations of leukemia as part of early diagnosis

ABSTRACT Introduction: The oral cavity can present the first clinical manifestations of leukemia, therefore; it is important to recognize their principal characteristics. Objective: To identify oral manifestations as the first clinical signs of leukemia. Methods: This is an integrative review, that gathered data from articles with oral manifestations of leukemia as part of its first clinical features. The were included case reports, case series, clinical research, or reviews with case reports. The variables that were considered relevant: age, sex, sites of the oral lesions, characteristics of the oral lesions, medical history and physical examination, time of evolution, radiographic examination, blood test results, initial diagnosis, differential diagnosis and final diagnosis. Results: A total of 31 studies were included, with a total of 33 individuals identified. There were 19 (57.57%) males and 14 (42.42%) females. The age range was from 1.6 to 74 years. Acute myeloid leukemia (72.72%) and acute lymphoid leukemia (18.18%) presented more oral manifestations as the first clinical signs of the disease. All individuals with leukemia presented lesions, such as ulcer, erosion, bleeding, ecchymosis, color change of the bluish or pale mucous membranes and areas of tissue necrosis. Hard tissue lesions were less frequent, being 6 (18.18%). Conclusion: The first clinical manifestations of leukemia can be present in the oral cavity, mainly in acute myeloid leukemia. The principal oral tissues affected were gingival tissue, buccal mucosa and hard and/or soft palate. When hard tissues, such as the maxilla bone or mandible bone were affected, dental mobility was the principal clinical sign.

Updating recommendations of the Brazilian Group of Flow Cytometry (GBCFLUX) for diagnosis of acute leukemias using four-color flow cytometry panels

ABSTRACT Introduction: Flow cytometry has become an increasingly important tool in the clinical laboratory for the diagnosis and monitoring of many hematopoietic neoplasms. This method is ideal for immunophenotypic identification of cellular subpopulations in complex samples, such as bone marrow and peripheral blood. In general, 4-color panels appear to be adequate, depending on the assay. In acute leukemias (ALs), it is necessary identify and characterize the population of abnormal cells in order to recognize the compromised lineage and classify leukemia according to the WHO criteria. Although the use of eightto ten-color immunophenotyping panels is wellestablished, many laboratories do not have access to this technology. Objective and Method: In 2015, the Brazilian Group of Flow Cytometry (Grupo Brasileiro de Citometria de Fluxo, GBCFLUX) proposed antibody panels designed to allow the precise diagnosis and characterization of AL within available resources. As many Brazilian flow cytometry laboratories use four-color immunophenotyping, the GBCFLUX has updated that document, according to current leukemia knowledge and after a forum of discussion and validation of antibody panels. Results: Recommendations for morphological analysis of bone marrow smears and performing screening panel for lineage (s) identification of AL were maintained from the previous publication. The lineage-oriented proposed panels for B and T cell acute lymphoblastic leukemia (ALL) and for acute myeloid leukemia (AML) were constructed for an appropriate leukemia classification. Conclusion: Three levels of recommendations (i.e., mandatory, recommended, and optional) were established to enable an accurate diagnosis with some flexibility, considering local laboratory resources and patient-specific needs.

Estudo Pioneiro sobre a Presença de Clone de Hemoglobinúria Paroxística Noturna durante Acompanhamento Terapêutico de Leucemia Aguda / Pioneering Study about the Presence of Paroxysmal Nocturnal Hemoglobinuria Clone during Therapeutic Monitoring of Acute Leukemia / Estudio Pionero sobre la Presencia de un Clon de Hemoglobinuria Paroxística Nocturna durante el Seguimiento Terapéutico de la Leucemia Aguda

Introdução: O potencial de transformação maligna de células-tronco hematopoiéticas portadoras de mutações no gene glicosilfostatidilinositolclasse A (PIG-A) para leucemias agudas, embora raro, já é bem descrito na literatura. Objetivo: Neste estudo, porém, buscou-se evidenciar pela primeira vez na literatura o surgimento ou a manutenção de clones de hemoglobinúria paroxística noturna (HPN) em pacientes diagnosticados com leucemia aguda ou ainda após o início do tratamento quimioterápico. Método: A pesquisa de clones de HPN foi realizada por citometria de fluxo em blastos, hemácias, granulócitos ou monócitos de 47 amostras de sangue periférico e medula óssea de pacientes submetidos à investigação diagnóstica ou acompanhamento terapêutico, provenientes de dois hospitais oncológicos e públicos de Belém, no período de dezembro de 2017 a dezembro de 2018. Resultados: A presença de clones de HPN foi observada em 19/47 (40,4%) amostras de pacientes, em investigação diagnóstica ou acompanhamento terapêutico, que realizaram pelo menos um estudo de acompanhamento terapêutico e ainda tiveram o surgimento ou a manutenção do clone de HPN mesmo após iniciado o tratamento quimioterápico. Conclusão: Foi possível evidenciar, de forma primária, a presença de clones de HPN em pacientes diagnosticados com leucemia aguda tanto no período de investigação diagnóstica como durante o acompanhamento terapêutico, independentemente da ontogenia celular. Sem, porém, que se possa ainda avaliar a importância da presença desses clones de HPN para a evolução da doença primária, prognóstico ou necessidade de tratamento específico.

Introduction: The potential for malignant transformation of hematopoietic stem cells carrying mutations in theglycosylphosphatidylinositol class A (PIG-A) gene for acute leukemias, although rare, is already well described in the literature. Objective: In this study, however, it was attempted to show for the first time in the literature the emergence or maintenance of paroxysmal nocturnal hemoglobinuria (PNH) clones in patients diagnosed with acute leukemia or even after the beginning of the chemotherapy treatment. Method: The search of PNH clones was performed by flow cytometry in blasts, erythrocytes, granulocytes or monocytes of 47 samples of peripheral blood and bone marrow from patients undergoing diagnostic investigation or therapeutic follow-up in two oncological and public hospitals in Belém, from December 2017 to December 2018. Results: The presence of PNH clones was observed in 19/47 (40.4%) patient samples, in diagnostic investigation or therapeutic follow-up, who participated of at least one therapeutic follow-up study and still experience the appearance or maintenance of the PNH clone even after the beginning of the chemotherapy treatment. Conclusion: Primarily, it was possible to demonstrate the presence of PNH clones in patients diagnosed with acute leukemia both during the diagnostic investigation period and therapeutic follow-up, regardless of cell ontogeny. However, the importance of the presence of these PNH clones for the evolution of the primary disease, prognosis or need for specific treatment was not evaluated yet.

Introducción: El potencial de transformación maligna de las células madre hematopoyéticas que portan mutaciones en el gen glicosofosfatidilinositol (GPI) clase A (PIGA) para las leucemias agudas, aunque raro, ya está bien descrito en la literatura. Objetivo: En este estudio, sin embargo, buscamos mostrar por primera vez en la literatura la aparición o mantenimiento de clones de HPN en pacientes diagnosticados de leucemia aguda o incluso después del inicio de la quimioterapia. Método: La investigación de clones de hemoglobinuria paroxística nocturna (HPN) se realizó mediante citometría de flujo en blastos, eritrocitos, granulocitos o monocitos de 47 muestras de sangre periférica y médula ósea de pacientes sometidos a investigación diagnóstica o seguimiento terapéutico de dos hospitales oncológicos y públicos de Belém, durante el período. de diciembre de 2017 a diciembre de 2018. Resultados: La presencia de clones HPN se observó en 19/47 (40,4%) muestras de pacientes, en investigación diagnóstica o seguimiento terapéutico, que realizaron al menos un estudio de seguimiento terapéutico y aún tenían la aparición o mantenimiento del clon HPN incluso después de iniciado el tratamiento de quimioterapia. Conclusión: Se pudo evidenciar, de forma primaria, la presencia de clones de HPN en pacientes diagnosticados de leucemia aguda tanto durante el período de investigación diagnóstica como durante el seguimiento terapéutico, independientemente de la ontogenia celular. Sin embargo, no podemos todavía evaluar la importancia de la presencia de estos clones de HPN para la evolución de la enfermedad primaria, el pronóstico o la necesidad de un tratamiento específico.

Diagnóstico, clasificación y tratamiento de la leucemia aguda de linaje ambiguo / Diagnosis, classification and treatment of acute leukemia of ambiguous lineage

Introducción: Las leucemias agudas de linaje ambiguo constituyen un grupo heterogéneo de leucemias agudas que no muestran una evidencia clara de diferenciación a lo largo del linaje celular. El diagnóstico definitivo se realiza exclusivamente por las características inmunofenotípicas, con el uso de la citometría de flujo multiparamétrica. Objetivo: Actualizar los criterios diagnósticos, la clasificación, el manejo clínico y terapéutico de las leucemias agudas de linaje ambiguo. Métodos: Se realizó una búsqueda de información científica relacionada con el tema en libros de textos de Hematología Clínica y en artículos publicados a través de PUBMED en los últimos 10 años. Se hizo un análisis y resumen de la bibliografía revisada. Análisis y síntesis de la información: Las características morfológicas de las células leucémicas procedentes de los pacientes con leucemias agudas de linaje ambiguo no muestran uniformidad. Pueden encontrarse de forma simultánea blastos de diferentes tamaños y estados de maduración. Estos pueden presentar apariencia linfoide, mieloide, indiferenciada o mixta. Conclusión: Las leucemias agudas de linaje ambiguo constituyen un subgrupo de alto riesgo, con un pronóstico desfavorable y una pobre supervivencia global de los enfermos. Su reporte oportuno es indispensable para aunar los criterios de la toma de decisiones terapéuticas en este grupo de pacientes(AU)

Introduction: Acute leukemias of ambiguous lineage constitute a heterogeneous group of acute leukemias that do not show clear evidence of differentiation along cell lineage. The definitive diagnosis is made exclusively based on immunophenotypic characteristics, with the use of multiparametric flow cytometry. Objective: To update the diagnostic criteria, classification, as well as the clinical and therapeutic management of acute leukemias of ambiguous lineage. Methods: A search for scientific information related to the subject was carried out in clinical hematology textbooks and in articles published through PUBMED in the last ten years. An analysis and summary of the revised bibliography was carried out. Information analysis and synthesis: The morphological characteristics of the leukemic cells from patients with acute leukemia of ambiguous lineage do not show uniformity. Blasts of different sizes and stages of maturation can be found simultaneously. These may appear as lymphoid, myeloid, undifferentiated, or mixed. Conclusion: Acute leukemias of ambiguous lineage constitute a high-risk subgroup, with unfavorable prognosis and poor overall patient survival. Its timely report is essential to gather criteria for making therapeutic decisions in this group of patients(AU)

Leucemia agresiva de células natural killer en un paciente pediátrico / Agressive NK-cell leukemia in a pediatric patient

Resumen Introducción: Las neoplasias de células natural killer (NK) son poco frecuentes y representan <5% de todas las neoplasias linfoides. Comprometen diferentes entidades clínicas, como la leucemia de células NK, que es una neoplasia hematológica altamente agresiva con un pronóstico precario, que se presenta en hombres jóvenes y se observa con mayor frecuencia en ascendencia asiática. El virus de Epstein-Barr (VEB) parece estar relacionado con la patogenia de esta leucemia. Caso clínico: Se presenta el caso de un paciente de sexo masculino de 1 año y 7 meses de edad, quien inició su padecimiento con síndrome anémico, febril, infiltrativo e hiperleucocitosis. En el aspirado de médula ósea se detectaron blastos de morfología L2 (96%), inmunofenotipo CD56 (80.87%) y desoxinucleotidil transferasa terminal (84.11%). En la biopsia de médula ósea se identificó CD2+ membranoso, CD3+ citoplásmico y CD56+ membranoso; la serología para VEB fue positiva. El paciente recibió dos esquemas diferentes de quimioterapia basados en metotrexato, ifosfamida, etopósido, dexametasona y L-asparaginasa, y se documentó remisión parcial. Actualmente, se encuentra vivo con la enfermedad. Conclusiones: La leucemia de células NK es rara en adultos jóvenes, pero aún más en pacientes en edad pediátrica. Además, es de muy difícil tratamiento, ya que solo se cuenta con algunos reportes de casos, la sobrevida es de semanas a meses y las oportunidades de tratamiento se limitan. Recientemente, se ha evidenciado la utilidad del trasplante de médula ósea alogénico o células de cordón umbilical, y se ha logrado una sobrevida a 2 años. Las posibilidades terapéuticas en estos pacientes se encuentran en estudio. Se espera lograr en un futuro cercano la remisión completa y sobrevida a 5 años.

Abstract Background: Natural killer (NK) cell neoplasms are rare and represent <5% of all lymphoid neoplasms. They involve different clinical entities, of which one is NK cell leukemia, a highly aggressive hematologic neoplasm with poor prognosis that presents in young men and is more frequently seen in Asian descent. Epstein-Barr virus (EBV) seems to be related to the pathogenesis. Case report: A male patient of 1 year and 7 months of age, who began his condition with anemic, febrile, infiltrative syndrome and hyperleukocytosis is described. Bone marrow aspirate showed L2 morphology blasts (96%), CD56 (80.87%) and terminal deoxynucleotidyl transferase (84.11%) immunophenotype. Bone marrow biopsy showed membranous CD2+, cytoplasmic CD3+ and membranous CD56+; serology positive to EBV. The patient received two different chemotherapy schemes based on methotrexate, ifosfamide, etoposide, dexamethasone and L-asparaginase, which resulted in partial remission. Currently, the patient lives with the disease. Conclusions: NK cells leukemia is rare in young adults, but even more in pediatric patients, for which it is very difficult to treat because only a few cases have been reported in the literature, the survival varies from weeks to months and the chances of treatment are limited. Recently, the usefulness of allogeneic bone marrow transplantation or umbilical cord cells has been demonstrated, achieving a 2-year survival. The therapeutic possibilities in these patients are under study. In the near future, we hope to achieve the complete remission of the disease and a 5-year survival.

Reporte de la Primera Reunión Nacional de Consenso para la Inmunofenotipificación de Leucemias Agudas / Report of the First National Consensus Meeting for the Immunophenotyping of Acute Leukemias

Resumen En 2005 se publicaron recomendaciones para la tipificación de hemopatías malignas en Latinoamérica. Se consideró necesario realizar una reunión nacional para actualizarlas. Se convocaron y reunieron 95 profesionales expertos en el tema para analizar y contrastar alternativas y llegar a un consenso. Se alcanzaron opiniones de consenso en lo relativo a indicaciones, tipos y manejo de muestras, anticuerpos, nomenclatura e informe de resultados para el diagnóstico y seguimiento de las leucemias agudas. Las recomendaciones se describen en este artículo y se hace hincapié en la necesidad de que los laboratorios nacionales se apeguen a ellas.

Abstract Recommendations for the typing of hematological malignancies in Latin America were published in 2005. Carrying out a national meeting to update them was deemed necessary. 95 professional experts on the subject were invited in order to analyze and contrast alternatives and reach a consensus. Consensus opinions were reached regarding indications, sample types and processing, antibodies, nomenclature and reporting of results for the diagnosis and monitoring of acute leukemias. This paper describes the recommendations and emphasizes on the need for national laboratories to adhere to them.

Manifestações Orais da Leucemia no Momento do Diagnóstico / Oral Manifestations of Leukemia at the Time of Diagnosis / Manifestaciones Orales de Leucemia en el Momento del Diagnóstic

Introdução: A leucemia é uma patologia com modificações malignas nas células-tronco hematopoiéticas, podendo gerar sinais e sintomas no organismo do paciente. Objetivo: Verificar as manifestações orais de leucemia no momento do diagnóstico. Método: Foi realizada uma revisão de literatura integrativa em maio e junho de 2018, a partir das bases de dados PubMed e BIREME, por meio das palavras cadastradas no MESH e no DeCS (Descritores em Saúde), respectivamente, em inglês leukemia AND diagnosis AND oral manifestations. Foram incluídos estudos avaliando as alterações bucais em pacientes leucêmicos no momento do diagnóstico, publicados nas bases citadas, nas línguas portuguesa e inglesa, com qualquer desenho de estudo, exceto revisão de literatura narrativa e artigos publicados entre 1950 a 2018. Foram excluídos os artigos que não abordam o tema do estudo, que incluíram outros indivíduos, além de pacientes leucêmicos, com ausência de manifestações orais em pacientes leucêmicos, e artigos não encontrados em sua versão completa. Resultados: Foram encontrados 353 artigos; destes, 318 foram excluídos. Assim, restaram 35 artigos. Conclusão: Conforme descrito nos artigos encontrados, o cirurgião-dentista tem grande importância no momento do diagnóstico da leucemia, já que as primeiras manifestações dessa doença ocorrem na cavidade oral, tais como sangramento gengival, hiperplasia, inchaço gengival, ulceração oral e petéquias

Introduction: Leukemia is a pathology that consistent with modifications derived from hematopoietic stem cells, which can generate signs and symptoms in the patient's body. Objective: To verify the oral manifestations of leukemia at the time of diagnosis. Method: A review of the integrative literature was carried out in May and June of 2018 from the PubMed and BIREME databases, using the words registered in the MESH and the DeCS (Health Descriptors), respectively, in English leukemia AND diagnosis AND oral manifestations. We included studies evaluating oral alterations in leukemic patients at the time of diagnosis, published in the bases cited in Portuguese and English, with any study design, except revision of narrative literature and articles published between 1950 to 2018. We excluded articles that did not address the subject of the study, which included individuals other than leukemic patients, with absence of oral manifestations in leukemic patients and articles not found in its full version. Results: Through the search, 353 articles were found, of which 318 were excluded. Thus, 35 articles remained. Conclusion: According to the articles found, the surgeon-dentist has great importance at the time of diagnosis of leukemia, since the first manifestations of this disease occur in the oral cavity, such as gingival bleeding, hyperplasia, gingival swelling, oral ulceration and petechiae

Introducción: La leucemia es una patología con modificaciones de las células madre hematopoyéticas, las cuales pueden generar signos y síntomas en el organismo del paciente. Objetivo: Verificar las manifestaciones orales de leucemia en el momento del diagnóstico. Método: Se realizó una revisión de literatura integrativa en mayo y junio de 2018 a partir de las bases de datos PubMed y BIREME, por medio de las palabras catastradas en el MESH y en el DeCS (Descriptores en Salud), respectivamente, en inglés leucemia AND diagnóstico AND oral manifestaciones y, Se incluyeron los estudios que evalúan las alteraciones orales en pacientes leucémicos el momento del diagnóstico, publicados en las bases mencionadas en portugués y en Inglés, con cualquier diseño de estudio, excepto la narrativa revisión de la literatura y artículos publicados entre 1950 e 2018. Se excluyeron los artículos que no abordan el tema del estudio, que incluyeron a otros individuos además de pacientes leucémicos, con ausencia de manifestaciones orales en pacientes leucémicos y artículos no encontrados en su versión completa. Resultados: A través de una búsqueda realizada encontraron 353 artículos, de éstas, 318 fueron excluídos. Así, quedaron 35 artículos. Conclusión: Según los artículos encontrados, el cirujano dentista tiene gran importancia en el momento del diagnóstico de la leucemia, ya que las primeras manifestaciones de esta enfermedad ocurren en la cavidad oral, tales como sangrado gingival, hiperplasia, hinchazón gingival, ulceración oral y petequias

Algorithmic processing to aid in leukemia detection

Background: I present our medical context with some basic concepts in order to understand the results of our work, and then I begin the explanation of mathematical morphology. I will conclude by the description of algorithmic processing propose in this paper. Cancers, including leukemia and lymphoma, can cause uncontrolled growth of an abnormal type of blood cell in the bone marrow, resulting in a greatly increased risk for infection and or serious bleeding.Methods: We present detailed steps of our proposed systems, to obtain a final result that shows the detection of abnormal cells. It typically starts with a median filter pre-processing step and then applies different morphologic operator, which allows us to segment the original image and detect cancerous cells. The basic idea behind all the operators in the mathematical morphology is to compare the set of objects to analyze another object of known form, which is called a structuring element. The structuring element is a geometric figure, simple to form, known or arbitrary, and can be a circle, segment, square, or triangle.Results: We show the different results obtained after testing carried out in algorithmic processing using MATLAB: To ameliorate the visualization of the abnormal blood cells, we have applied the elements basis morphological operations in a different way. We have performed an opening by reconstruction and a closing by reconstruction. The obtained result show that we have obtained an efficient detection of the targeted objects (abnormal blood cells or leukemia).Conclusion: In this paper, we have utilized the operators of the mathematical morphology with the aim to detect abnormal cells for diagnostic aid and transmission of accurate and precise clinical information, which helps specialists in medicine (hematologists) to distinguish abnormal cells or cancerous and to follow the evolution of leukemia. The algorithmic processing presented in this article has been able to perform the task of detection of cancerous cells with success; it has produced remarkable and satisfactory results. We think of the future concept as a system of aid for diagnosis from microelectronics integration to the base of reconfigurable technologies applied to cells for the goal of quantification of the cancer region

A Case of Therapy-Related Acute Leukemia With Mixed Phenotype With BCR-ABL1 After Treatment of Diffuse Large B-Cell Lymphoma

No abstract available.

Advances in the diagnosis and treatment of acute and chronic leukemia in Mexico / Avances en el diagnóstico y tratamiento de las leucemias agudas y crónicas en México

Abstract In the last 60 years, there have been substantial advances regarding the diagnosis and treatment of patients with acute and chronic leukemia in Mexico. Immunologic and molecular classifications of these diseases have improved both diagnosis and therapeutic capabilities. Although the pace of diagnostic and therapeutic advances has been slower compared with developed countries, Mexico is at the forefront among developing countries. Supporting research in these fields is expected to enhance the generation of new knowledge and improve the care of patients suffering from these diseases.

Resumen En los últimos 60 años ha habido avances notables en el diagnóstico y tratamiento de los pacientes con leucemia aguda y crónica en México. Las clasificaciones inmunológicas y moleculares de esta enfermedad han mejorado tanto la capacidad diagnóstica como las derivaciones terapéuticas. Si bien el ritmo de los avances diagnósticos y terapéuticos en México se ha visto retrasado cuando se compara con el de países desarrollados, se encuentra a la vanguardia entre los países en vías de desarrollo. El apoyo a las labores de investigación en estas áreas del conocimiento seguramente redundará en beneficio de la generación de nuevos conocimientos y de la atención de los pacientes que sufren estas enfermedades.

Frequency of various types of leukaemias diagnosed at PAF hospital mianwali

To determine the frequencies of various types of leukaemias in a secondary care hospital. Descriptive. PAF Hospital Mianwali, from Jan 2009 to Dec 2012. Record of all the cases of acute lymphoblastic leukaemia [ALL], acute myeloid leukaemia [AML], chronic lymphocytic leukaemia [CLL] and chronic myeloid leukaemia [CML] diagnosed during the period of study was retrieved from the laboratory and total number of leukaemia cases were counted. The ages and the genders of the patients were noted. Median age at diagnosis for each type of leukaemia was worked out. Frequency of each leukaemia type was noted and relative frequency was calculated as percentage. Out of a total of 67 patients, AML was diagnosed in 22 [32.8%], CML in 16 [23.8%], ALL in 15 [22.4%] and CLL in 14 [20.9%] cases. Median age at diagnosis for ALL, AML, CLL and CML was 5,41, 70 and 40 years respectively while male to female ratio was 2.7,1.4,1.3 and 1.5 respectively. AML was the commonest leukaemia type, followed by CML, ALL and CLL. In children, ALL was found to be four times more common than AML

Características clínico epidemiológicas de los pacientes con leucemia aguda del Servicio de Hematología del Hospital Almanzor Aguinaga Asenjo / Epidemiologic clinical features of patients with acute leukemia hematology Hospital Service Almanzor Aguinaga Asenjo

Objetivo: Identificar las características clínico-epidemiológicas de los pacientes con leucemia en el área de Hematología del H.A.A.A. Material y Método: Estudio retrospectivo, transversal y descriptivo. Se revisaron 55 historias clínicas de pacientes con diagnóstico de Leucemia Aguda, tomadas de la oficina de registro del HNAAA, durante el periodo de Enero 2005 a Marzo 2010. Resultados: En el periodo de estudio, se diagnosticaron 142 casos de Leucemia, 105 (73.94%) correspondieron a Leucemia aguda. De ellos, 39 fueron varones y 16 mujeres. El grupo etario más frecuente fue de 31 a 55 años (30.9%), y el menos frecuente de 0 a 2 años (3.6%). 38 pacientes (69.1%) fueron diagnosticados por consulta externa y 17(30.9%) por emergencia. La leucemia aguda linfoide fue más frecuente en varones, que en mujeres. El 7.27% de leucemias agudas fue de tipo indeterminado. Dentro de las manifestaciones iníciales recolectadas encontramos en mayor cantidad anemia, palidez, fiebre, malestar corporal, otros (gingivorragia, dolor abdominal y vómitos), en menor cantidad encontramos astenia, fatiga y hemorragia. En cuanto a datos de laboratorio, 20 pacientes (69.1%) presentaron leucopenia; 33 pacientes (98.2%) trombocitopenia y 48 pacientes (87.3%) hemoglobina baja. Conclusiones: La prevalencia de leucemia aguda fue de 73.94 %. El grupo etáreo que predominó fue entre 31 a 55 años. Los signos y síntomas más comunes desarrollados durante la enfermedad fueron; esplenomegalia, hepatomegalia, anemia, equimosis y petequias. Objetives: To identify the organisms that conform the normal flora of the external auditory canal.

Material and Methods: Retrospective, transversal and descriptive. We reviewed a total of 55 medical records with a diagnosis of acute leukemia, taken from the HNAAA registration office during the period from January 2005 to March 2010. Results: During the study period, 142 cases were diagnosed with Leukemia, 105 (73.94%) were acute leukemia. Of the 105 cases, 55 were evaluated. Of these 39 were males and 16 females. The most common age group was between 31-55 years (30.9%) and the least frequent was 0-2 years (3.6%). 38 patients (69.1%) were diagnosed as outpatients and 17 (30.9%) diagnosed in emergency. Acute lymphocytic leukemia is more common in men than in women. The type of acute leukemia was undetermined for 7.27%. Within the initial manifestations collected we found more anemia, pallor, fever, body aches, and others (gingival, abdominal pain and vomiting), whereas we found fewer asthenia, fatigue, and bleeding. For laboratory data, 20 patients (69.1%) had leukopenia, 33 patients (98.2%) had thrombocytopenia and 48 patients (87.3%) presented low hemoglobin. Conclusions: The prevalence of acute leukemia was 73.94%. The predominant age group was between 31-55 years. The most common signs and symptoms developed during the disease were, splenomegaly, hepatomegaly, anemia, bruising and petechiae.

Diagnostic Utility of Multiprobe Fluorescence in situ Hybridization Assay for Detecting Cytogenetic Aberrations in Acute Leukemia

BACKGROUND: Specific cytogenetic aberrations detected by conventional karyotyping or FISH play a major role in the diagnosis, prognosis, and treatment of patients with acute leukemia. The FISH technique enhances the capacity of conventional karyotyping to detect subtle chromosomal aberrations. Multiprobe FISH assay (Cytocell, UK) can hybridize multiple probes to a single slide, thereby increasing the detection rate of cytogenetic aberrations. This study aimed to evaluate multiprobe FISH in detecting cytogenetic abnormalities in acute leukemia. METHODS: Thirty newly diagnosed acute leukemia patients who attended the hematology clinic at Dong-A University Hospital from October 2008 to October 2012 were enrolled in the study. The multiprobe FISH results were compared with those of G-banding. RESULTS: Multiprobe FISH detected the chromosomal aberrations identified by G-banding, as well as additional aberrations in 6 of 30 (20.0%) cases, which included ETV6/RUNX1 translocation, p16 deletion, TP53 deletion, and IGH break-apart. CONCLUSIONS: The multiprobe FISH assay was a more sensitive and reliable technique compared with G-banding. It was also more cost-effective and yielded faster results.

Cancer Cytogenetics: Methodology Revisited

The Philadelphia chromosome was the first genetic abnormality discovered in cancer (in 1960), and it was found to be consistently associated with CML. The description of the Philadelphia chromosome ushered in a new era in the field of cancer cytogenetics. Accumulating genetic data have been shown to be intimately associated with the diagnosis and prognosis of neoplasms; thus, karyotyping is now considered a mandatory investigation for all newly diagnosed leukemias. The development of FISH in the 1980s overcame many of the drawbacks of assessing the genetic alterations in cancer cells by karyotyping. Karyotyping of cancer cells remains the gold standard since it provides a global analysis of the abnormalities in the entire genome of a single cell. However, subsequent methodological advances in molecular cytogenetics based on the principle of FISH that were initiated in the early 1990s have greatly enhanced the efficiency and accuracy of karyotype analysis by marrying conventional cytogenetics with molecular technologies. In this review, the development, current utilization, and technical pitfalls of both the conventional and molecular cytogenetics approaches used for cancer diagnosis over the past five decades will be discussed.

Pattern of Leukaemias in a Tertiary Care Hospital - A 5 Years Retrospective Study of 103 Cases.

Objective: To study the distribution of various types of leukaemia in the RIMS Hospital in terms of types, age, sex and among various ethnic groups. Material and Method: It’s a retrospective study carried out in the department of Pathology, Regional Institute of Medical Sciences (RIMS) Hospital over a five years period between November 2006 and October 2011. Diagnosis was based on peripheral blood count, peripheral blood smear and bone marrow examination for morphology along with cytochemistry study whenever required. FAB classification is followed in the study. SPSS software package, version 16, was used for statistical analysis. Result: Out of total 103 cases, 49cases (47.6%) were children and adolescents and 54 cases (52.4%) were adults. Age range was 9 months to 79 years with a mean age of 31.2 years. Among the children and adolescents, 30 cases were males and 18 cases were females (M: F ratio 1.7:1). In the adults 34 cases were males and 21 cases were females with M: F ratio 1.6:1. Overall male female ratios was 1.6:1. Out of 103 cases, 85.4% were of of acute leukaemia and rest were chronic leukaemia (14.6%). Acute leukaemia was the most common leukaemia in all age groups. Of all leukaemia cases reported, maximum cases were of acute myeloid leukaemia (AML). Acute lymphoblastic leukaemia (ALL) is the most common type of leukaemia in the children (60.7%) and adolescents (52.3%). AML (66.7%) is the most common acute leukaemia in adults. Among ALL, L2 is the most common variant (82.3%) and in AML, M3 is the most common (38.8%). Chronic leukaemia was more common in adult (80%) than children and adolescents. Out of total 12 cases of the chronic leukaemia reported in adults, 10 were of chronic myeloid leukaemia (CML), 2 were chronic lymphocytic leukaemia (CLL). The maximum cases of leukaemia were among Meitei community (64%) followed by tribal community (28%) and minimum in Muslims (8%). Conclusion: In this study, acute leukaemia was the most common leukaemia in all age groups. Of all leukaemia cases reported, maximum cases were of AML and minimum cases were of CLL. Chronic leukaemia was more common in adult. In children, majority of cases were ALL and chronic leukaemia was rare. Leukaemias were more common in males. Meitei community was affected the most.

A novel deletion cluster at 13q14.2-q21.33 in an 80-year man with late onset leukemia: Clinical and molecular findings.

Chromosomal deletions are among the most common genetic events observed in hematologic malignancies; loss of genetic material is regarded as a hallmark of putative tumor suppressor gene localization. We have identified an unusual cluster of deletions at 13q14.2-13q21.33 in an 80-year-old father of a monozygotic twin pair discordant for schizophrenia, who developed chronic leukemia (CLL) at age 69. MATERIALS AND METHODS: The breakpoints for individual deletions in this cluster was identified by Affymetrix Human Array 6.0 screening. RESULTS: The deleted segments harbours a number of genes, most associated with cancer as well as a high concentration of LINEs, SINEs and related repeats. The derived chromosome represents an intra-chromosomal re-arrangement that quickly overtook blood progenitor cells probably before age 69 as a cause of CLL. CONCLUSIONS: The study highlights the role of ongoing de novo changes at susceptible sites, such as repeat rich regions, in the human genome. Also, it argues for the involvement of genes/deletions in the 13q(14.2-21.33) region in the development of CCL.

Análisis de la mortalidad por leucemia aguda pediátrica en el Instituto Nacional de Cancerología / Analysis of mortality in pediatric acute leukemia at the National Cancer Institute

Introducción. La mortalidad por leucemia aguda pediátrica es un indicador trazador del acceso y efectividad de la atención en salud; su análisis permite identificar los factores involucrados en el proceso de la enfermedad que pueden influir en la condición final de los niños. Objetivo. Describir la experiencia operativa y los resultados obtenidos en los comités de análisis institucional de la mortalidad por leucemia aguda pediátrica. Materiales y métodos. Se hizo un análisis descriptivo de las muertes por leucemia linfoide o mieloide aguda ocurridas en niños menores de 15 años en el Instituto Nacional de Cancerología, 2008-2010. Se llevó a cabo el análisis de “evitabilidad” (sic.) con el modelo de las tres demoras propuesto por Thaddeus y Maine. Resultados. Se analizaron 24 defunciones. El 87,5 % fueron a causa de leucemia linfoide aguda. La mediana de edad fue de 10,5 años. Se encontró que la demora 3 (obtener el tratamiento adecuado y oportuno) ocurrió en el 83 % de los casos analizados y que los traslados durante el tratamiento fue la limitación más común (66,7 %). El 83,3 % de las muertes se consideraron no evitables dadas las condiciones clínicas de la enfermedad. Conclusiones. Es la primera experiencia en el análisis de mortalidad por un evento crónico en la población pediátrica del Instituto Nacional de Cancerología y en el país. Aunque las demoras identificadas no condicionaron de forma directa la mortalidad, sí constituyen la base para establecer acciones de mejoría que influyan en la calidad de la atención de los niños con cáncer.

Introduction. Mortality rate for childhood acute leukemia is an indicator of access to and efficacy of health services. Analysis of this indicator allows the identification of factors contributing to the development of the illness and the final condition of affected children. Objective. The operative experience results were described from data obtained by committee of analysis of institutional mortality by childhood acute leukaemia. Materials and methods. Formal reports of deaths in children under 15 due to acute lymphoblastic or myeloid leukemia were provided to the National Cancer Institute of Colombia. A descriptive analysis of these reports from the period 2008-2010 was undertaken by the National Cancer Institute. Avoidability analysis was performed using the 1994 “three delays” model of Thaddeus and Maine. Results. Of 24 deaths analyzed, 21 were caused by acute lymphoblastic leukemia. The median age was 10.5 years. The delay 3 (get adequate and timely treatment) was identified in 83% of the cases and transfers during treatment were the most common limitation (66.7%). 83.3% of deaths were deemed unavoidable given the clinical conditions of the patients. Conclusions. Even though the delays identified did not affect mortality in a direct way, they did nonetheless constitute the basis for improvements to the quality of attention to children with cancer.