RESUMEN
Extramedullary involvement of acute myeloid leukemia (AML) is infrequent, and ascitic infiltration is even more unusual. We present a case of a 48-year-old woman diagnosed with NPM1-mutated AML that debuted with ascites, for which morphological studies of the ascitic fluid did not detect leukemic infiltration, maybe due to technical problems in the sample preparation. Multiparameter flow cytometry (MFC) detected a blast population compatible with AML, and allele-specific PCR detected NPM1-mutated transcripts. Body fluid infiltrations are an infrequent initial manifestation or sign of progression in AML. As far as we know, this is the first reported case of an NPM1-mutated AML that debuted with ascites, and also the first description of the utilization of molecular techniques to detect the leukemic origin of the ascites. This case highlights that, given that allele-specific PCR and MFC increase the sensitivity of morphological studies, these techniques should be routinely applied in the study of any kind of effusion detected in an AML patient.
Asunto(s)
Líquido Ascítico , Infiltración Leucémica , Femenino , Citometría de Flujo , Humanos , Persona de Mediana Edad , Mutación , Proteínas Nucleares/genética , NucleofosminaRESUMEN
BACKGROUND: The majority of patients with acute promyelocytic leukemia (APL) manifest a specific chromosomal translocation t(15;17)(q22;q21), characterized by the fusion of RARA and PML genes. However, a proportion of APL cases are due to variant translocations, being t(11;17) (q23;q21) the most common amongst them. With the major exception of ZBTB16-RARA t(11;17) APL, these variant APL cases present similar morphological features as classic APL and are characterized by a lack of differentiation response to retinoids. CASE SUMMARY: We describe the case of variant APL with the ZBTB16-RARA fusion gene, showing a distinct morphology of classical APL, characterized by crystalline intracytoplasmic inclusions in both peripheral blood (PB) and bone marrow (BM) patients' blasts. Our patient was treated with two courses of intensive chemotherapy, initiating maintenance treatment with all-trans retinoic acid (ATRA) on day twenty-eight of the second course. Our patient achieved complete remission (CR) once the intensive chemotherapy was combined with ATRA. CONCLUSIONS: This is the second case described of APL with t(11;17) that showed crystalline intracytoplasmic inclusions. The finding of these morphological features may suggest the presence of a variant translocation with RARA, being that both cases described are related to the presence of t(11;17). Despite induction treatment with intensive chemotherapy that included a seven-day continuous treatment with cytarabine (200 mg/m2), plus daily idarubicin (12 mg/m2) during the first three days, our patient did not achieve complete remission (CR) until scheduled 3 + 7 regimen combined with ATRA treatment was established. This observation suggests that ATRA may be partially effective in some ZBTB16-RARA APLs.
Asunto(s)
Leucemia Promielocítica Aguda , Médula Ósea , Humanos , Leucemia Promielocítica Aguda/tratamiento farmacológico , Leucemia Promielocítica Aguda/genética , Proteínas de Fusión Oncogénica/genética , Proteína de la Leucemia Promielocítica con Dedos de Zinc/genética , Translocación Genética/genética , Tretinoina/uso terapéuticoRESUMEN
CONTEXT: Music listening (ML) has been shown to have a beneficial effect on patients with cancer. However, novel intervention approaches are needed. OBJECTIVES: We aimed to determine whether ML based on the iso-principle, conducted using a mobile application (GloMus), improves symptom burden, quality of life (QoL), anxiety, and depression in patients undergoing stem cell transplantation (SCT) and intensive induction chemotherapy for acute myeloid leukemia (AML). METHODS: In this randomized controlled clinical trial, we assigned 71 patients to the ML or standard care (SC) groups, stratified by the reason for admission (AML, allogeneic-SCT, or inpatient/outpatient autologous-SCT). Upon admission, participants in the ML groups were invited to undergo daily ML sessions designed to change negative moods into positive ones (iso-principle). The intervention consisted of listening to pre-recorded classical music ordered by beats per minute and tonality. Symptom burden (Edmonton Symptom Assessment System-Revised) was assessed in the ML groups before and after each session. Anxiety, depression (Hospital Anxiety and Depression Scale), and QoL (Functional Assessment of Cancer Therapy-Bone Marrow Transplantation/Leukemia) were measured weekly in the ML and SC groups. RESULTS: Symptom burden in both allogeneic- and inpatient autologous-SCT ML groups reduced after the intervention. In all experimental groups, clinically important improvements were observed after ML sessions. No differences were found between the groups (ML vs. SC) at different weeks of admission regarding anxiety, depression, and QoL. CONCLUSIONS: ML based on our innovative iso-principle strategy, conducted using GloMus, reduced the symptom burden in patients undergoing allogeneic- and inpatient autologous-SCT (ClinicalTrials.gov number, NCT05696457).
Asunto(s)
Ansiedad , Depresión , Leucemia Mieloide Aguda , Musicoterapia , Calidad de Vida , Trasplante de Células Madre , Humanos , Leucemia Mieloide Aguda/terapia , Masculino , Femenino , Persona de Mediana Edad , Ansiedad/terapia , Musicoterapia/métodos , Adulto , Depresión/terapia , Resultado del Tratamiento , AncianoAsunto(s)
Lesión Renal Aguda/etiología , Neoplasias Renales/complicaciones , Plasmacitoma/complicaciones , Anciano , Femenino , Humanos , Neoplasias Renales/diagnóstico por imagen , Imagen por Resonancia Magnética , Mieloma Múltiple/complicaciones , Mieloma Múltiple/diagnóstico por imagen , Plasmacitoma/diagnóstico por imagen , Tomografía Computarizada por Rayos X , Obstrucción Ureteral/complicaciones , Obstrucción Ureteral/diagnóstico por imagenRESUMEN
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