RESUMEN

Patients with primary immunodeficiency are at increased risk for malignancy, especially hematologic neoplasms. This paper reports a unique case of a 47-year-old man with X-linked agammaglobulinemia who presented with progressive asymptomatic violaceous papules and plaques on his face, hands, and trunk for 1 year. Skin biopsies revealed deep, nodular infiltrates of histiocytes and CD8-positive lymphocytes, with a CD4:CD8 ratio of 1:10. Laboratory studies showed cytopenias. Flow cytometry in the skin, blood, and bone marrow (BM) showed a CD3+/CD8+/CD57+ large granular lymphocyte population. BM biopsy showed 30% involvement with these atypical T-cells. T-cell gene rearrangement studies of skin, blood, and BM revealed identical T-cell clones. He was diagnosed with T-large granular lymphocyte leukemia (T-LGLL) with an associated CD8+ cutaneous lymphoproliferation. Skin involvement was suspected to represent infiltration by T-LGLL. However, co-existence of two lymphoproliferative disorders (LPDs), T-LGLL and CD8+ granulomatous LPD, remains a possibility. In general, cutaneous infiltrates associated with LGLL are rare and poorly understood. It has been suggested that they are markers of poor prognosis. Our case report describes skin, blood, and BM findings in an immunosuppressed patient with T-LGLL in detail. These findings have not yet been reported and their significance requires further investigation.

Asunto(s)

Agammaglobulinemia/genética , Linfocitos T CD8-positivos/patología , Enfermedades Genéticas Ligadas al Cromosoma X/genética , Leucemia Linfocítica Granular Grande/genética , Leucemia Linfocítica Granular Grande/patología , Adyuvantes Inmunológicos/administración & dosificación , Adyuvantes Inmunológicos/uso terapéutico , Agammaglobulinemia/complicaciones , Agammaglobulinemia/diagnóstico , Agammaglobulinemia/patología , Biopsia , Médula Ósea/patología , Linfocitos T CD8-positivos/inmunología , Fármacos Dermatológicos/administración & dosificación , Fármacos Dermatológicos/uso terapéutico , Diagnóstico Diferencial , Quimioterapia Combinada , Reordenamiento Génico de Linfocito T , Enfermedades Genéticas Ligadas al Cromosoma X/complicaciones , Enfermedades Genéticas Ligadas al Cromosoma X/diagnóstico , Enfermedades Genéticas Ligadas al Cromosoma X/patología , Histiocitos/patología , Humanos , Imiquimod/administración & dosificación , Imiquimod/uso terapéutico , Terapia de Inmunosupresión/efectos adversos , Leucemia Linfocítica Granular Grande/complicaciones , Leucemia Linfocítica Granular Grande/tratamiento farmacológico , Masculino , Metotrexato/administración & dosificación , Metotrexato/uso terapéutico , Persona de Mediana Edad , Piel/patología , Resultado del Tratamiento

RESUMEN

Two months of treatment with doxycycline provided no improvement. A biopsy of the patient's cheek led to a proper diagnosis.

Asunto(s)

Antibacterianos/uso terapéutico , Mejilla/fisiopatología , Doxiciclina/uso terapéutico , Eritema/diagnóstico , Eritema/tratamiento farmacológico , Exantema/tratamiento farmacológico , Dermatosis Facial/tratamiento farmacológico , Eritema/fisiopatología , Exantema/diagnóstico , Exantema/fisiopatología , Dermatosis Facial/diagnóstico , Dermatosis Facial/fisiopatología , Humanos

RESUMEN

The molecular characterization of solid tumor malignancies with respect to tumorgenesis, risk stratification, and prognostication of chemotherapeutic side effects is multi-faceted. Characterizing these mechanisms requires a detailed understanding of cytogenetics and pharmacology. In addition to the standard palliative care interventions that address issues such as fatigue, neuropathy, performance status, depression, nutrition, cachexia, anxiety, and medical ethics, we must also delve into individual chemotherapy side effects. Comprehending these symptoms is more complex with the advent of broader targeted therapies. With the advent and initiation of Foundation Medicine (FMI) testing, we have been able to tailor regimens to the individual genetics of the patient. Next-generation sequencing (NGS) is a bioinformatic analysis used in order to create a targeted effort to understand the complex genetics of a vast array of malignancies. Through the process known as high-throughput sequencing we, as clinicians, can obtain more real-time genetic data and incorporate the information into our reasoning process. The process involves a broad manner in which deoxyribonucleic acid (DNA) sequence data is obtained including genome sequencing and resequencing, protein-DNA or proteinomics, chromatin immunoprecipitation (ChIP)-sequencing, ribonucleic acid (RNA) sequencing, and epigenomic analysis. High-throughput sequencing techniques including single molecule real-time sequencing, ion semiconductor sequencing, pyrose sequencing, sequencing by synthesis, sequencing by ligation, nanopore sequencing, and chain termination (otherwise known as Sanger sequencing) have expanded the realm of NGS and clinicians options.