ABSTRACT
El priapismo es una erección dolorosa y persistente acompañada o no de estímulo sexual. Una causa poco frecuente de esta anormalidad es la leucemia mieloide crónica. Se han reportado pocos casos de priapismo como manifestación inicial de una leucemia de este tipo en pacientes adolescentes. A continuación, se informa el caso de un paciente de 16 años de edad que presentó priapismo como manifestación inicial de una leucemia mieloide crónica. Durante su evolución, no se realizó aspiración de los cuerpos cavernosos. Se inició tratamiento hematológico específico y, ante la persistencia del priapismo, fue necesario realizar un shunt de cuerpos cavernosos en dos ocasiones, tratamiento a pesar del cual existen altas probabilidades de secuelas.
Priapism is a painful and persistent erection, with or without sexual stimulation. A rare cause of such abnormality is chronic myeloid leukemia. Few cases of priapism as an initial manifestation of this type of leukemia have been reported in adolescent patients. Here we describe the case of a 16-year-old patient who presented with priapism as the initial manifestation of chronic myeloid leukemia. No cavernosal aspiration was performed. A specific hematological treatment was started and, given the persistence of priapism, the patient required 2 corpora cavernosa shunt procedures; despite this treatment, there is a high probability of sequelae.
Subject(s)
Humans , Male , Adolescent , Priapism/complications , Priapism/etiology , Leukemia, Myelogenous, Chronic, BCR-ABL Positive/complications , Leukemia, Myelogenous, Chronic, BCR-ABL Positive/diagnosis , Chronic DiseaseABSTRACT
O objetivo deste relato é apresentar o caso clínico de uma cadela, sem raça definida, com cinco anos de idade, diagnosticada com leucemia mieloide crônica (LMC). As leucemias são neoplasias malignas que se originam de células precursoras da medula óssea e as consequências podem ser trombocitopenia, anemia, leucocitose persistente e presença de células neoplásicas no sangue. O tratamento de escolha envolve o uso de inibidores de tirosina quinase, porém este não pode ser usado neste caso. Dessa forma a cadela recebeu diferentes protocolos quimioterápicos que incluíram inicialmente hidroxiureia, citarabina, doxorrubicina e prednisona. Devido a remissão parcial dos sinais clínicos e a resposta terapêutica pouco duradoura a essas medicações o protocolo foi alterado para quimioterapia metronômica com clorambucil. O uso desses quimioterápicos não foram eficazes em reduzir a leucocitose e controlar a anemia e trombocitopenia da paciente, devido a ocorrência do surgimento de células imaturas no sangue e resistência aos quimioterápicos. Na ausência da crise e da possibilidade do uso dos inibidores de tirosina quinase, a hidroxiureia permanece sendo o quimioterápico de eleição. O animal apresentou sobrevida de 210 dias, devido a leucocitose e anemia severas pouco responsivas ao protocolo terapêutico utilizado e o surgimento no hemograma de precursores neutrofilicos que ocorreu 46 dias
The aim of this report is to present the clinical case of a five-year-old mixed breed female dog diagnosed with chronic myeloid leukemia (CML). Leukemias are malignant neoplasms that originate from bone marrow precursor cells and the consequences can be thrombocytopenia, anemia, persistent leukocytosis and the presence of neoplastic cells in the blood. The treatment of choice involves the use of tyrosine kinase inhibitors, but it cannot be used in this case. Thus, the dog received different chemotherapy protocols that initially included hydroxyurea, cytarabine, doxorubicin and prednisone. Due to the partial remission of clinical signs and the short-term therapeutic response to these medications, the protocol was changed to metronomic chemotherapy with chlorambucil. The use of these chemotherapeutic agents was not effective in reducing leukocytosis and controlling the patients anemia and thrombocytopenia, due to the occurrence of immature cells in the blood and resistance to chemotherapeutic agents. In the absence of the crisis and the possibility of using tyrosine kinase inhibitors, hydroxyurea remains the chemotherapy of choice. The animal had a 210-day survival, due to severe leukocytosis and anemia, which were not responsive to the therapeutic protocol used and the appearance in the blood count of neutrophilic precursors that occurred 46 days after the beginning of hydroxyurea treatment.
Subject(s)
Animals , Dogs , Dogs/abnormalities , Leukemia, Myelogenous, Chronic, BCR-ABL Positive/diagnosis , Leukemia, Myelogenous, Chronic, BCR-ABL Positive/therapy , Leukemia, Myelogenous, Chronic, BCR-ABL Positive/veterinary , Drug Therapy , Clinical Laboratory TechniquesABSTRACT
No abstract available.
Subject(s)
Aged, 80 and over , Female , Humans , Base Sequence , Bone Marrow/pathology , DNA/chemistry , Fusion Proteins, bcr-abl/genetics , Leukemia, Myelogenous, Chronic, BCR-ABL Positive/diagnosis , Multiplex Polymerase Chain Reaction , Protein Isoforms/genetics , Sequence Analysis, DNAABSTRACT
No abstract available.
Subject(s)
Humans , Male , Middle Aged , Bone Marrow/pathology , Chromosomes, Human, Pair 12 , Chromosomes, Human, Pair 9 , Core Binding Factor Alpha 2 Subunit/genetics , DNA/metabolism , Gene Rearrangement , In Situ Hybridization, Fluorescence , Karyotyping , Leukemia, Myelogenous, Chronic, BCR-ABL Positive/diagnosis , Oncogene Proteins, Fusion/genetics , Reverse Transcriptase Polymerase Chain Reaction , Translocation, GeneticABSTRACT
Introducción: la leucemia mieloide crónica (LMC) se caracteriza por la presencia de la translocación t(9,22) que resulta en la formación del gen de fusión BCR/ABL1. En ocasiones esta alteración genética puede asociarse con deleciones en secuencias del cromosoma 9 derivativo y otras variantes que no se observan con la citogenética convencional, pero pueden ser detectadas mediante la técnica de hibridación in situ por fluorescencia (FISH). Objetivo: describir los patrones de hibridación en pacientes positivos a la t(9;22) a partir de la introducción de la técnica de FISH para el estudio de las leucemias en Cuba. Métodos: se estudiaron muestras de sangre medular de 36 pacientes con LMC y ocho con leucemia linfoblástica aguda (LLA), en el Instituto de Hematología e Inmunología. Se empleó la sonda LSI BCR/ABL1 Dual Color Dual Fusion. Resultados: entre los pacientes con LMC, dos muestras resultaron no útiles para el diagnóstico y 18 fueron positivas para el BCR-ABL1, una de ellas mostró un patrón de hibridación atípico. Todas las muestras de pacientes con LLA resultaron negativas. En un paciente con impresión diagnóstica de LMC BCR-ABL1 negativo, se observó un patrón de señales que sugiere trisomía del cromosoma 9. Conclusiones: la incorporación de la técnica de FISH para el estudio del transcripto BCR/ABL1 en pacientes con LMC y LLA permitió detectar su presencia y la existencia de patrones de señales atípicos, los que pudieran no ser detectables mediante la citogenética convencional y tener significación pronóstica(AU)
Introduction: Chronic myeloid leukemia (CML) is characterized by the t(9;22) translocation resulting in the formation of BCR/ABL1 fusion gen. Sometimes this genetic alteration can be associated to deletions in sequences of derivative chromosome 9 and other variants detected by fluorescence in situ hybridization (FISH) technique. Objective: To describe hybridization patterns in patients positive to t(9;22) after the introduction of FISH at the leukemia study in Cuba. Methods: The bone marrow samples of 36 patients with diagnosis of CML and eight patients with acute lymphoblastic leukemia (ALL) were studied at the Cytogenetics Laboratory of the Institute of Hematology and Immunology. The BCR/ABL Dual Color Dual Fusion probe was used. Results: The sample of two CML patients were non-useful for diagnosis and 18 were t(9;22) positive, one with an atypical pattern of signals. All the ALL patients were negative. In one negative CML patient was observed a pattern of signals suggestive of trisomy 9. Conclusions: Incorporation of FISH for the BCR/ABL1 transcript study in CML and ALL patients allowed us to detect its presence and the existence of different patterns of signals which could be no detectable by conventional cytogenetic and could have prognostic significance(AU)
Subject(s)
Humans , Leukemia, Myelogenous, Chronic, BCR-ABL Positive/diagnosis , In Situ Hybridization, Fluorescence/methods , Cross-Sectional Studies , Prospective Studies , CubaABSTRACT
No abstract available.
Subject(s)
Humans , Male , Middle Aged , Base Sequence , Bone Marrow/pathology , Fusion Proteins, bcr-abl/genetics , Leukemia, Myelogenous, Chronic, BCR-ABL Positive/diagnosis , Real-Time Polymerase Chain ReactionABSTRACT
CONTEXT AND OBJECTIVES: Chronic myeloid leukemia (CML) requires strict daily compliance with oral medication and regular blood and bone marrow control tests. The objective was to evaluate CML patients' perceptions about the disease, their access to information regarding the diagnosis, monitoring and treatment, adverse effects and associations of these variables with patients' demographics, region and healthcare access. DESIGN AND SETTING: Prospective cross-sectional study among CML patients registered with the Brazilian Lymphoma and Leukemia Association (ABRALE). METHODS: CML patients receiving treatment through the public healthcare system were interviewed by telephone. RESULTS: Among 1,102 patients interviewed, the symptoms most frequently leading them to seek medical care were weakness or fatigue. One third were diagnosed by means of routine tests. The time that elapsed between first symptoms and seeking medical care was 42.28 ± 154.21 days. Most patients had been tested at least once for Philadelphia chromosome, but 43.2% did not know the results. 64.8% had had polymerase chain reaction testing for the BCR/ABL gene every three months. 47% believed that CML could be controlled, but 33.1% believed that there was no treatment. About 24% reported occasionally stopping their medication. Imatinib was associated with nausea, cramps and muscle pain. Self-reported treatment adherence was significantly associated with normalized blood count, and positively associated with imatinib. CONCLUSIONS: There is a lack of information or understanding about disease monitoring tools among Brazilian CML patients; they are diagnosed quickly and have good access to treatment. Correct comprehension of CML control tools is impaired in Brazilian patients.
CONTEXTO E OBJETIVOS: Leucemia mieloide crônica (CML) exige estrita adesão à medicação oral e ao monitoramento do sangue e da medula. O objetivo foi avaliar percepções de pacientes com leucemia mieloide crônica (LMC) sobre a doença, seu acesso à informação sobre diagnóstico, monitoramento e tratamento, efeitos adversos e a associação destes com dados demográficos, geográficos e de acesso a tratamento. DESENHO E LOCAL: Estudo prospectivo transversal realizado com pacientes de LMC cadastrados na Associação Brasileira de Leucemia e Linfoma (Abrale). MÉTODOS: Pacientes com LMC recebendo tratamento do sistema público de saúde foram entrevistados por telefone. RESULTADOS: Entre os 1.102 pacientes entrevistados, os sintomas mais frequentemente levando à busca de consulta foram fraqueza e fadiga. Um terço foi diagnosticado por exames de rotina. O tempo entre sintoma inicial e procura por ajuda foi de 42,28 ± 154,21 dias. A maioria foi testada pelo menos uma vez para o cromossomo Filadélfia, mas 43,2% não sabiam os resultados. 64,8% fizeram exame de reação em cadeia da polimerase para o gene BCR/ABL a cada três meses. 47% acreditavam que LMC pode ser controlada, mas 33,1% acham que não há tratamento. Cerca de 24% disseram que ocasionalmente interrompem o tratamento. Imatinibe associou-se com náusea, câimbra e dor muscular. Aderência auto-reportada associou-se significativamente com hemograma normal e positivamente com uso de imatinibe. CONCLUSÕES: Falta informação ou compreensão sobre monitoramento entre pacientes com LMC; eles recebem diagnóstico rapidamente e têm bom acesso ao tratamento. A correta compreensão das ferramentas de controle em LMC está prejudicada entre eles.
Subject(s)
Adolescent , Adult , Aged , Aged, 80 and over , Child , Child, Preschool , Female , Humans , Male , Middle Aged , Young Adult , Health Knowledge, Attitudes, Practice , Leukemia, Myelogenous, Chronic, BCR-ABL Positive/diagnosis , Leukemia, Myelogenous, Chronic, BCR-ABL Positive/therapy , Antineoplastic Agents/therapeutic use , Brazil , Cross-Sectional Studies , Health Services Accessibility , Imatinib Mesylate/therapeutic use , Leukemia, Myelogenous, Chronic, BCR-ABL Positive/genetics , Medication Adherence , Perception , Philadelphia Chromosome , Prospective Studies , Socioeconomic Factors , Statistics, Nonparametric , Time FactorsABSTRACT
Introducción: la leucemia mieloide crónica (LMC) es un síndrome mieloproliferativo crónico caracterizado por la presencia de una alteración citogenética en las células proliferantes, el cromosoma Filadelfia (Ph), que da lugar a la formación de un gen híbrido BCR-ABL, fundamental en la patogénesis de la enfermedad. Objetivo: describir el comportamiento de esta enfermedad en los pacientes tratados en el Instituto de Hematología e Inmunología. Métodos: se estudiaron las características de esta enfermedad en sus aspectos diagnósticos, evolutivos y terapéuticos, en los pacientes atendidos desde marzo de 1974 hasta junio de 2012. Resultados: el grupo de edad que predominó para ambos sexos fue de 30 a 39 años. El 21 por ciento de los pacientes se encontraban asintomáticos en el momento del diagnóstico. La esplenomegalia fue el signo predominante en el 64 por ciento de los pacientes. Los hallazgos iniciales más significativos del hemograma consistieron en leucocitosis, basofilia y anemia. El 81 por ciento de los casos se encontraba en fase crónica al inicio de la enfermedad. La mayoría de los pacientes debutaron con niveles de LDH elevados. Se observó el cromosoma Filadelfia en el 68 por ciento de los pacientes a quienes se les realizó estudio citogenético. El estudio del reordenamiento del gen BCR/ABL se realizó en el 70 por ciento de los casos, siendo positivo en su totalidad. La media de supervivencia en relación con el tratamiento fue mayor en los pacientes tratados con mesilato de imatinib desde el momento del diagnóstico (11.7 años). La media de supervivencia global es de 11.44 años y la mediana es de 8.18 años. Conclusiones: todos los parámetros demográficos, clínicos, de laboratorio y terapéuticos coincidieron con lo descrito en la literatura, excepto la edad de aparición de la LMC que evidenció una disminución
Introduction: Chronic myeloid leukemia (CML) is a chronic myeloproliferative syndrome characterized by the presence of a citogenetic alteration in proliferant cells, the Philadelphia chromosome (Ph), giving rise the formation of a hybrid gene BCR-ABL, with a fundamental role in the pathogenesis of the disease. Objective: To describe the clinical behavior of the illness in patients treated at the Institute of Hematology and Immunology. Methods: Characteristics according to diagnose, evolution and therapeutic aspects of the patients treated at from March 1974 to June 2012 were studied. Results: The age group that prevailed for both sexes was 30-39 years; 21 percent of the patients were asintomatic at diagnosis. Splenomegaly was the predominant sign in 64 percent of the patients. The most significant initial discoveries on blood film were leucocytosis, basophillia and anemia; at debut 81 percent of the patients were in chronic phase. Most patients debuted with high levels of LDH. Ph chromosome was observed in 68 percent of individuals with cytogenetc studies. The BCR/ABL gene was detected in every patient with molecular studies. The mean of survival in relation to treatment was higher in patients treated with imatinib mesilate at diagnosis (11.7 years). The mean of global survival was 11.44 years with the median of 8.18 years. Conclusion: All demographic, clinical, laboratory and therapeutic parameters coincided with the literature with the exception of a lower age at onset of CML
Subject(s)
Humans , Leukemia, Myelogenous, Chronic, BCR-ABL Positive/diagnosis , Leukemia, Myelogenous, Chronic, BCR-ABL Positive/epidemiology , Leukemia, Myelogenous, Chronic, BCR-ABL Positive/therapyABSTRACT
To compare the sensitivity and specificity of Real Time Polymerase Chain Reaction [RT-PCR] with conventional cytogenetics in diagnosis of chronic myeloid leukemia. A cross-sectional, analytical study. The Armed Forces Institute of Pathology [AFIP], Rawalpindi, from December 2010 to January 2012. A total number of 40 patients were studied, in which all were diagnosed as CML on peripheral blood and bone marrow aspiration. The subjects were tested for the presence of Philadelphia [Ph] chromosome by cytogenetics and BCR-ABL fusion gene by RT-PCR. 2-3 ml of venous blood was collected, half in sodium heparin [anti-coagulant] for cytogenetics and half in EDTA for PCR. For cytogenetics, cells were cultured for 72 hours in RPMI 1640 medium and examined by arresting in metaphase using Colchicine to identify Philadelphia chromosome. For PCR, RNA extraction was done by Tri Reagent LS [MRC, USA] and cDNA was synthesized using reverse transcriptase and gene specific primer. RT- PCR was done on ABI-7500. The positive samples were identified when fluorescence exceeded threshold limit. Results of cytogenetics and RT PCR were compared. Out of the 40 patients, PCR showed 37 [92.5%] were positive and 3 [7.5%] were negative for BCR-ABL fusion gene, whereas in cytogenetics 28 [70%] were positive for Ph chromosome and 12 [30%] were negative for Ph chromosome. Sensitivity and specificity of cytogenetics was 75.6% and 100% respectively. Real time PCR as compared to cytogenetics is less tedious, gives quick results, does not require multiple sampling due to culture failure and can be done on peripheral blood
Subject(s)
Humans , Male , Female , Leukemia, Myelogenous, Chronic, BCR-ABL Positive/diagnosis , Leukemia, Myelogenous, Chronic, BCR-ABL Positive/genetics , Cytogenetics/methods , In Situ Hybridization, Fluorescence , Cross-Sectional Studies , Molecular Sequence Data , Philadelphia Chromosome , RNA, Messenger , Sensitivity and Specificity , Biomarkers, Tumor/bloodABSTRACT
El síndrome de fascitis palmar con poliartritis (PFPAS) es un trastorno paraneoplásico infrecuente. Consiste en artritis generalizada de la mano, eritema, tumefacción, rigidez y engrosamiento de la fascia palmar con contracturas progresivas en flexión de los dedos, yse asocia a una enfermedad maligna subyacente. Presentamos el caso de una mujer de 75 años de edad que presentó placas induradas eritemato-violáceaspruriginosas y levemente dolorosas en ambas palmas, con tumefaccióny retracción en flexión de los dedos asociado a artralgias en ambas muñecas.El estudio de la médula ósea confirmó el diagnóstico de leucemia mieloide crónica...
Subject(s)
Humans , Arthritis , Hand Deformities/diagnosis , Fasciitis/diagnosis , Leukemia, Myeloid , Leukemia, Myelogenous, Chronic, BCR-ABL Positive/diagnosis , Bone Marrow , Erythema , Hand , LeukemiaABSTRACT
No abstract available.
Subject(s)
Adult , Humans , Male , Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Benzamides/therapeutic use , Bone Marrow Examination , Chemoradiotherapy , Cyclophosphamide/administration & dosage , Doxorubicin/administration & dosage , Karyotyping , Leukemia, Myelogenous, Chronic, BCR-ABL Positive/diagnosis , Lymphoma, Large B-Cell, Diffuse/diagnosis , Neoplasms, Second Primary , Piperazines/therapeutic use , Positron-Emission Tomography , Prednisolone/administration & dosage , Protein Kinase Inhibitors/therapeutic use , Pyrimidines/therapeutic use , Time Factors , Tomography, X-Ray Computed , Treatment Outcome , Vincristine/administration & dosage , Whole Body Imaging/methodsABSTRACT
Evolución clonal en la leucemia mieloide crónica se denomina a la presencia de alteraciones cromosómicas adicionales al cromosoma Filadelfia. Ocurre aproximadamente en el 30 por ciento de los pacientes en fase acelerada y en el 80 por ciento de los pacientes en crisis blástica. Es considerada un criterio de la fase acelerada de la enfermedad. Aunque se plantea que su presencia implica peor pronóstico, su significado es controversial y está en dependencia de la alteración citogenética específica, su frecuencia en el cariotipo, la asociación con otras alteraciones citogenéticas y clínicas de progresión, relación con el tiempo en que aparece en la evolución de la enfermedad y los tratamientos empleados
Clonal evolution in chronic myeloid leukemia is defined as the presence of a variety of additional, nonrandom chromosomal abnormalities besides the Philadelfia chromosome. It occurs in approximately 30 percent of patients in accelerated phase and 80 percent of patients in blastic phase. It is considered a criterion for accelerated phase. Although it is associated with a poor prognosis, its significance is controversial. It depends on the specific cytogenetic abnormality, its frequency in karyotype study, the association with other progression clinical and cytogenetic alterations, its relationship with the time of appearance during the course of the disease and the therapy used
Subject(s)
Humans , Male , Female , Clonal Evolution/genetics , Leukemia, Myelogenous, Chronic, BCR-ABL Positive/complications , Leukemia, Myelogenous, Chronic, BCR-ABL Positive/diagnosis , Leukemia, Myelogenous, Chronic, BCR-ABL Positive/genetics , Cytogenetic Analysis/methods , Philadelphia Chromosome , PrognosisABSTRACT
No abstract available.
Subject(s)
Adult , Humans , Male , Middle Aged , Alleles , Fusion Proteins, bcr-abl/genetics , Heterozygote , Hydroxyurea/therapeutic use , Janus Kinase 2/genetics , Leukemia, Myelogenous, Chronic, BCR-ABL Positive/diagnosis , Leukocytes, Mononuclear/pathology , Leukocytosis/diagnosis , Mutation , Myeloproliferative Disorders/drug therapy , Phenotype , Splenomegaly/diagnosis , Thrombocytosis/diagnosis , Translocation, GeneticABSTRACT
No abstract available.
Subject(s)
Adolescent , Humans , Male , Antineoplastic Agents/therapeutic use , Benzamides/therapeutic use , Chromosome Deletion , Chromosomes, Human, Pair 7 , Drug Resistance, Neoplasm , Fusion Proteins, bcr-abl/genetics , Immunophenotyping , Karyotyping , Leukemia, Myelogenous, Chronic, BCR-ABL Positive/diagnosis , Piperazines/therapeutic use , Pyrimidines/therapeutic use , Real-Time Polymerase Chain ReactionABSTRACT
Leukemia cutis (LC) is defined as a neoplastic leukocytic infiltration of the skin. Few clinical studies are available on recent trends of LC in Korea. The purpose of this study was to analyze the clinical features and prognosis of LC in Korea and to compare findings with previous studies. We performed a retrospective study of 75 patients with LC and evaluated the patients' age and sex, clinical features and skin lesion distribution according to the type of leukemia, interval between the diagnosis of leukemia and the development of LC, and prognosis. The male to female ratio was 2:1, and the mean age at diagnosis was 37.6 yr. The most common cutaneous lesions were nodules. The most commonly affected site was the extremities in acute myelocytic leukemia and chronic myelocytic leukemia except for acute lymphocytic leukemia. Compared with previous studies, there was an increasing tendency in the proportion of males and nodular lesions, and LC most often occurred in the extremities. The prognosis of LC was still poor within 1 yr, which was similar to the results of previous studies. These results suggest that there is a difference in the clinical characteristics and predilection sites according to type of leukemia.
Subject(s)
Adult , Female , Humans , Male , Extremities/pathology , Leukemia, Myelogenous, Chronic, BCR-ABL Positive/diagnosis , Leukemia, Myeloid, Acute/diagnosis , Leukemic Infiltration , Neoplasm Staging , Retrospective Studies , Skin/pathologyABSTRACT
Background : Chronic myelogenous leukemia (CML) is characterised by the t(9;22)(q34;q11.2) which results in the formation of the BCR/ABL1 fusion gene. Occasionally, the t(9;22) may be associated with submicroscopic deletions of chromosomes 9 and/or 22 which appear to be associated with a worse prognosis. Three or four-way variant t(9;22) may also occur. All these changes as well as gain of the Philadelphia chromosome which represents disease progression can be detected by fluorescence in situ hybridization (FISH) analysis. FISH analysis at presentation is used to determine the number of cells with BCR/ABL1 fusion and establish whether the patterns are typical or atypical. Response to therapy can then be monitored by serial testing. Patients and Methods : The study group consisted of all patients diagnosed or suspected to have CML who had interphase FISH analysis at presentation on peripheral blood/bone marrow using a commercially available BCR/ABL1 dual colour, dual fusion probe. The study was performed at a tertiary hospital in India between 2004 and 2010. Results: There were 1076 diagnostic samples which were positive for BCR/ABL1 fusion. Typical dual fusion signals (two fusions, one red and one green, 2F1R1G) were seen in 801 cases (74 %). Atypical signal patterns were seen in 275 cases (26%). These were: 1F1R2G (4%), 1F2R1G (2.5%) and 1F1R1G (11%) representing deletions of the derivative 9 involving chromosome 9 sequences, chromosome 22 sequences, or both respectively; 3F1R1G (6.5%) usually representing gain of an additional Philadelphia chromosome and 1F2R2G (1%) representing a three- or four-way variant translocation. More than one signal pattern was seen in 1%. Conclusions: Our findings were similar to the literature with respect to the distribution of signal patterns except that we had a lower number of patients with variant translocations. While each signal pattern is typically associated with a particular abnormality, there can be more than one explanation for each pattern. Hence, metaphase FISH analysis is the "gold standard" for the interpretation of signal patterns.
Subject(s)
Adolescent , Adult , Aged , Aged, 80 and over , Child , Child, Preschool , Female , Fusion Proteins, bcr-abl/genetics , Humans , In Situ Hybridization, Fluorescence/methods , India , Leukemia, Myelogenous, Chronic, BCR-ABL Positive/diagnosis , Male , Middle Aged , Oligonucleotide Probes/chemistry , Oligonucleotide Probes/genetics , Tertiary Care Centers , Young AdultABSTRACT
Background: The conventional cytogenetic approach to demonstrate Philadelphia (Ph) chromosome at times does not yield enough number of metaphases or are of suboptimal quality. Further, the rapid molecular tests have completely pushed this simple technique into disrepute. Aims: This study aimed to evaluate usefulness of phytohemagglutinin (PHA)-stimulated peripheral blood culture for detection of Ph chromosome in chronic myeloid leukemia (CML) patients. Materials and Methods: Fifty-six patients, including 11 newly diagnosed cases of CML and 45 patients of CML on imatinib therapy showing the presence of Ph chromosome in unstimulated samples, were included in the study. Cytogenetic analysis was done on unstimulated samples, i.e. bone marrow aspirate, 24- and 48-h peripheral blood culture, and compared with PHA-stimulated 72-h peripheral blood culture. Results: The preparations from PHA-stimulated peripheral blood culture samples in all 56 patients yielded high number of good-quality metaphases. All the 11 (100%) newly diagnosed patients and 39/45 (87%) of the patients on imatinib therapy showed the presence of Ph chromosome in PHA-stimulated samples. Addition of PHA-stimulated 72-h peripheral blood culture preparation can be of use for increasing the diagnostic yield in cases of CML with suboptimal results on conventional cytogenetics from bone marrow aspirate sample.
Subject(s)
Adult , Humans , Karyotyping/methods , Leukemia, Myelogenous, Chronic, BCR-ABL Positive/diagnosis , Leukemia, Myelogenous, Chronic, BCR-ABL Positive/pathology , Leukocytes/drug effects , Male , Middle Aged , Philadelphia Chromosome , Phytohemagglutinins/metabolismABSTRACT
Chronic myeloid leukaemia [CML], previously a fatal illness, is now readily manageable with oral medication. First described in the 1840s, there was no widely accepted cure until the advent of allogeneic stem cell transplantation in the late 1970s. This treatment was of limited value because of donor availability and toxicity problems. Discovering the Philadelphia chromosome and demonstrating that the BCR-ABL chimaeric gene was responsible for the malignant phenotype opened new avenues. The development of tyrosine kinase inhibitors [TKIs] changed the lives of patients with CML. The treatment has been so successful that compliance is now a problem. Currently under discussion is the possible use of more expensive second generation TKIs for newly diagnosed patients. In spite of the success with TKIs, treatment of common cancers has not been so successful. Is CML therefore a paradigm for malignancy or just a strange disease?