RUNX1 amplification in AML with myelodysplasia-related changes and ring 21 chromosomes.

Ring 21 is an unstable structural abnormality of chromosome 21 that can lead to RUNX1 gene amplification. We present a unique case with a carrier patient of a constitutional ring chromosome 21 (partial monosomy and trisomy 21) with dysmorphic features and congenital malformations phenotype, who developed acute myeloid leukaemia with myelodysplasia-related changes and two ring 21 chromosomes with RUNX1 amplification. The patient's constitutional ring 21 chromosome showed alterations in tumour suppressor genes, and oncogenes, but not in RUNX1. RUNX1 gene expression at acute myeloid leukaemia diagnosis, showed no upregulation, so other genes may also be the genetic amplification targets in this patient. Copyright © 2016 John Wiley & Sons, Ltd.

NUP98-HOXA9 bearing therapy-related myeloid neoplasm involves myeloid-committed cell and induces HOXA5, EVI1, FLT3, and MEIS1 expression.

INTRODUCTION: Chromosomal rearrangements involving NUP98 gene have been associated with human leukemias such as de novo AML, therapy-related AML (t-AML), myelodysplastic syndrome (MDS), and chronic myeloid leukemia (CML). Genetic fusion NUP98-HOXA9, caused by t(7;11)(p15;p15), is a recurrent cytogenetic alteration in de novo acute myeloid leukemia (AML) usually found in young Asian patients and its description in therapy-related myeloid neoplasms (t-MN) is rare. Only one Asian case with molecular demonstration of the NUP98-HOXA9 fusion has been reported in therapy-related leukemia. NUP98-HOXA9 leukemogenic mechanism is derived from the transcription factor activity of the chimeric protein, which enhances the expression of genes related to cellular differentiation arrest and proliferation. PATIENTS AND METHODS: We studied a Caucasian woman with a therapy-related acute myeloid leukemia after Ewing's sarcoma. Molecular demonstration of the genetic fusion NUP98-HOXA9 was performed by RT-PCR, and gene expression was analyzed by real-time PCR, including four AML patients with MLL rearrangements for comparative analysis. Cytologic and flow cytometric analysis was also carried out. RESULTS: After cytologic and flow cytometric analysis diagnostics was therapy-related myeloid neoplasm (t-MN). The major component of blasts in the acute leukemia was with neutrophilic differentiation, but 13% erythroid lineage blasts were also found. Cytogenetic and FISH analysis revealed t(7;11)(p15;p15) and NUP98-HOXA9 fusion gene was demonstrated. Gene expression analysis showed upregulation of EVI1 and MEIS1 in the index patient, both of them previously related to a worst outcome. CONCLUSION: In this work, we include a detailed molecular, clinical, cytological, and cytometric study of the second t-AML bearing NUP98-HOXA9 genetic fusion.

[Infiltration of the meninges or brain by a non-Hodgkin's lymphoma, diagnosed by flow cytometry in cerebrospinal fluid]. / Infiltracion meningea y cerebral por un linfoma no Hodgkin, diagnosticada por citometria de flujo en liquido cefalorraquideo.

INTRODUCTION: Two forms of growth are reported in the neuroradiology of cerebral lymphomas: mass, single or multiple lesions, with homogeneous contrast enhancement, and diffuse infiltration. Flow cytometry enables us to diagnose non-Hodgkin's lymphoma, when clonality of B cells is detected. It is usually employed with peripheral blood or bone marrow samples but can be used with cerebrospinal fluid (CSF). CASE REPORT: We report the case of a 68-year-old female, who was admitted to hospital because of rapidly progressive onset of confusion and right-side hemiparesis that developed in a matter of days. Magnetic resonance imaging (MRI) of the head showed a diffuse infiltrative lesion, without contrast enhancement, which covered the left basal nuclei, the left frontal white matter, the genu of the corpus callosum and the right frontal white matter. The CSF showed slight pleocytosis (20 cells/mL) and a notable degree of hypoglycorrhachia (10 mg/dL). The cytological examination only revealed lymphocytes, with no data indicating atypicality. The flow cytometry assay detected large mononuclear B cells, with the CD19 + CD20 + CD10-lambda phenotype, which is characteristic of diffuse non-Hodgkin's lymphoma of large B cells. The clinical course ran quickly towards a fatal outcome; it progressed to left-side hemiplegia and coma, and the patient died two weeks after admission to hospital. CONCLUSIONS: In cases of cerebral lymphoma, especially when the neuroradiological pattern displays diffuse infiltration and there are anomalies involving CSF, the flow cytometry in CSF can be diagnostic, thus avoiding the need for other invasive brain procedures to deal with lesions that are usually located deep inside the brain at badly defined sites.

Infiltración meníngea y cerebral por un linfoma no Hodgkin diagnosticada por citometría de flujo en el líquido cefalorraquídeo / Infiltrationof the meninges or brain by a non-hodgkin lymphoma, diagnosed by flow cytometry in cerebrospinal fluid

Introduction. Two forms of growth are reported in the neuroradiology of cerebral lymphomas: mass, single or multiple lesions, with homogeneous contrast enhancement, and diffuse infiltration. Flow cytometry enables us to diagnose non-Hodgkin’s lymphoma, when clonality of B cells is detected. It is usually employed with peripheral blood or bone marrow samples but can be used with cerebrospinal fluid (CSF). Case report. We report the case of a 68-year-old female, who was admitted to hospital because of rapidly progressive onset of confusion and right-side hemiparesis that developed in a matter of days. Magnetic resonance imaging (MRI) of the head showed a diffuse infiltrative lesion, without contrast enhancement, which covered the left basal nuclei, the left frontal white matter, the genu of the corpus callosum and the right frontal white matter. The CSF showed slight pleocytosis (20 cells/dL) and a notable degree of hypoglycorrhachia (10 mg/dL). The cytological examination only revealed lymphocytes, with no data indicating atypicality. The flow cytometry assay detected large mononuclear B cells, with the CD19 + CD20 + CD10-lambda phenotype, which is characteristic of diffuse non-Hodgkin’s lymphoma of large B cells. The clinical course ran quickly towards a fatal outcome; it progressed to left-side hemiplegia and coma, and the patient died two weeks after admission to hospital. Conclusions. In cases of cerebral lymphoma, especially when the euroradiological pattern displays diffuse infiltration and there are anomalies involving CSF, the flow cytometry in CSF can be diagnostic, thus avoiding the need for other invasive brain procedures to deal with lesions that are usually located deep inside the brain at badly defined sites (AU)

Introducción. En la neurorradiología de los linfomas cerebrales se describen dos formas de crecimiento: lesión en masa, única o múltiple, con captación homogénea de contraste, e infiltración difusa. La citometría de flujo permite diagnosticar un linfoma no Hodgkin B cuando se detecta clonalidad B; habitualmente, esta técnica se utiliza sobre muestras de sangre periférica o de médula ósea, pero puede usarse en el líquido cefalorraquídeo (LCR). Caso clínico. Mujer de 68 años que ingresó por confusión y hemiparesia derecha de instauración rápidamente progresiva en días. La resonancia magnética (RM) de cráneo mostró una lesión infiltrativa difusa, sin captación de contraste, que abarcaba los núcleos basales izquierdos, la sustancia blanca frontal izquierda, la rodilla del cuerpo calloso y la sustancia blanca frontal derecha. El LCR mostró una ligera pleocitosis (20 células/L) y una marcada hipoglucorraquia (10 mg/dL). La citología sólo objetivó linfocitos, sin datos de atipicidad. La citometría de flujo detectó células grandes mononucleares B, con fenotipo CD19 CD20 CD10-, propio de un linfoma no Hodgkin difuso de células grandes B. El curso clínico fue rápidamente fatal; progresó a hemiplejía izquierda y coma, y la paciente falleció a las dos semanas del ingreso. Conclusiones. En casos de linfoma cerebral, particular-mente cuando el patrón neurorradiológico es de infiltración difusa y existen anomalías licuorales, la citometría de flujo en el LCR puede ser diagnóstica y evitar otros procedimientos invasivos cerebrales sobre lesiones que habitualmente tienen una localización profunda y mal definida (AU)

Gestión sanitaria y satisfacción del usuario: experiencia en la descentralización del control de pacientes con anticoagulación oral / Health care management and user satisfaction: an experience in the decentralisation of control of patients who use oral anticoagulants

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