RESUMEN
Aplastic anemia (AA) is the prototypical bone marrow failure syndrome. In the current era of readily available 'molecular annotation', application of comprehensive next-generation sequencing panels has generated novel insights into underlying pathogenetic mechanisms, potentially leading to improvements in personalized therapeutic approaches. New evidence has emerged as to the role of somatic loss of HLA class I allele expression in 'immune-mediated' AA, associated molecular aberrations, and risk of clonal evolution. A deeper understanding has emerged regarding the role of 'myeloid' gene mutations in this context, translating patho-mechanistic insights derived from wider clinical and translational research within the myeloid disorder arena. Here, we review contemporary 'tools' which aid in confirmation of a diagnosis of AA, with an additional focus on their potential in guiding therapeutic options. A specific emphasis is placed upon interpretation and integration of this detailed diagnostic information and how this may inform optimal transplantation strategies.
Asunto(s)
Anemia Aplásica , Humanos , Anemia Aplásica/diagnóstico , Anemia Aplásica/genética , Anemia Aplásica/terapia , Trastornos de Fallo de la Médula Ósea , MutaciónRESUMEN
Sézary syndrome (SS) is a rare and aggressive T-cell lymphoma with a poor prognosis in advanced stages. Allogeneic hematopoietic cell transplantation (allo-HCT) offers a potential cure, but complications such as graft-versus-host disease (GvHD) remain a clinical challenge. Mogamulizumab, a humanized anti-CC chemokine receptor 4 (CCR4) antibody, is sometimes used as a bridge to transplantation, but its potential interactions with allo-HCT are unclear. This report describes the case of a 37-year-old man with advanced SS who received mogamulizumab therapy followed by allo-HCT from an HLA-identical sibling donor. The patient developed severe gastrointestinal acute GvHD, which was treated with steroids and infliximab. However, the condition rapidly progressed to severe intestinal symptoms and life-threatening haemorrhagic shock, ultimately resulting in the patient's death. This case highlights a potential link between mogamulizumab and severe acute GvHD promoted by drug-induced suppression of regulatory T cells. Further research is required to fully understand the interaction between mogamulizumab and allo-HCT and to determine whether it is an optimal approach as a bridge to transplant therapy. This paradigmatic case suggests the need of personalizing transplant strategies by selecting appropriate conditioning therapy and GvHD prophylaxis to minimize potential toxicity.
Asunto(s)
Anticuerpos Monoclonales Humanizados , Enfermedad Injerto contra Huésped , Trasplante de Células Madre Hematopoyéticas , Síndrome de Sézary , Humanos , Anticuerpos Monoclonales Humanizados/uso terapéutico , Anticuerpos Monoclonales Humanizados/efectos adversos , Enfermedad Injerto contra Huésped/etiología , Trasplante de Células Madre Hematopoyéticas/efectos adversos , Masculino , Adulto , Síndrome de Sézary/terapia , Síndrome de Sézary/tratamiento farmacológico , Resultado Fatal , Enfermedad Aguda , Neoplasias Cutáneas/terapia , Neoplasias Cutáneas/tratamiento farmacológicoRESUMEN
We present the case of a young adult, who developed several hepatic post-HCT complications, which made differential diagnosis extremely difficult.
Asunto(s)
Trasplante de Células Madre Hematopoyéticas , Linfoma de Células T , Adulto , Humanos , Masculino , Diagnóstico Diferencial , Trasplante de Células Madre Hematopoyéticas/efectos adversos , Hígado/patología , Hepatopatías/etiología , Hepatopatías/diagnóstico , Linfoma de Células T/diagnóstico , Linfoma de Células T/complicaciones , Linfoma de Células T/etiología , Linfoma de Células T/terapiaRESUMEN
Neurocysticercosis, an infection of the central nervous system with the larval stage of the cestode Taenia solium, is uncommon in developed countries. We report a case of allogeneic haematopoietic stem cell transplantation from a haploidentical donor complicated, in the long term, by T. solium infection of the central nervous system and successfully treated with empiric antiparasitic therapy with albendazole plus dexamethasone. Revised diagnostic criteria proposed by Del Brutto et al. were used for the definitive diagnosis of cerebellar neurocysticercosis.