RESUMO
Blinatumomab es un anticuerpo biespecífico que está indicado en monoterapia en pacientes adultos con leucemia linfoblástica aguda B refractaria o en recaída con cromosoma filadelfia negativo como terapia puente al trasplante y se asocia a remisiones a largo plazo. Se presenta el caso de una paciente de 40 años diagnosticada de esta enfermedad, que respondió al tratamiento con blinatumomab y posteriormente fue trasplantada en condiciones óptimas, a pesar de no haber recibido los dos ciclos de tratamiento a dosis plenas por motivos de toxicidad pancreática y gastrointestinal. (AU)
Blinatumomab is a bispecific antibody that is indicated as monotherapy in adult patients with refractory or relapsed Philadelphia chromosome-negative acute lymphoblastic leukaemia B as bridge therapy to transplantation and is associated with long-term remissions. We present the case of a 40-year-old patient diagnosed with this disease, who responded to treatment with blinatumomab and was subsequently transplanted under optimal conditions, despite not having received the two cycles of full-dose treatment due to pancreatic and gastrointestinal toxicity. (AU)
Assuntos
Humanos , Adulto , Transplante Homólogo , Hematínicos , Cromossomos , Leucemia-Linfoma Linfoblástico de Células Precursoras , Encaminhamento e ConsultaRESUMO
Detailed below is a very illustrative case of a rare pathology of recessive congenital methemoglobinemia. The patient, a newborn female, was homozygous for c.535G > A, p.(Ala179Thr) a pathogenic variant in the CYB5R3 gene. The reported population frequency of the allele is 0.853%, demonstrating why it is remarkable to find both parents are heterozygous carriers without consanguinity. A brief review of previously published cases is also presented.