RESUMEN
PURPOSE: Autosomal recessive mutations in LRBA, encoding for LPS-responsive beige-like anchor protein, were described in patients with a common variable immunodeficiency (CVID)-like disease characterized by hypogammaglobulinemia, autoimmune cytopenias, and enteropathy. Here, we detail the clinical, immunological, and genetic features of a patient with severe autoimmune manifestations. METHODS: Whole exome sequencing was performed to establish a molecular diagnosis. Evaluation of lymphocyte subsets was performed for immunological characterization. Medical files were reviewed to collect clinical and immunological data. RESULTS: A 7-year-old boy, born to consanguineous parents, presented with autoimmune hemolytic anemia, hepatosplenomegaly, autoimmune thyroiditis, and severe autoimmune gastrointestinal manifestations. Immunological investigations revealed low immunoglobulin levels and low numbers of B and NK cells. Treatment included immunoglobulin replacement and immunosuppressive therapy. Seven years after disease onset, the patient developed severe neurological symptoms resembling acute disseminated encephalomyelitis, prompting allogeneic hematopoietic stem cell transplantation (HSCT) with the HLA-identical mother as donor. Whole exome sequencing of the patient uncovered a homozygous 1 bp deletion in LRBA (c.7162delA:p.T2388Pfs*7). Importantly, during 2 years of follow-up post-HSCT, marked clinical improvement and recovery of immune function was observed. CONCLUSIONS: Our data suggest a beneficial effect of HSCT in patients with LRBA deficiency.
Asunto(s)
Proteínas Adaptadoras Transductoras de Señales/genética , Anemia Hemolítica Autoinmune/terapia , Linfocitos B/inmunología , Inmunodeficiencia Variable Común/terapia , Trasplante de Células Madre Hematopoyéticas , Células Asesinas Naturales/inmunología , Eliminación de Secuencia/genética , Anemia Hemolítica Autoinmune/diagnóstico , Anemia Hemolítica Autoinmune/genética , Autoinmunidad , Niño , Inmunodeficiencia Variable Común/diagnóstico , Inmunodeficiencia Variable Común/genética , Consanguinidad , Análisis Mutacional de ADN , Antígenos HLA/inmunología , Histocompatibilidad , Humanos , Inmunoglobulinas/sangre , Masculino , Resultado del TratamientoRESUMEN
BACKGROUND: Preoperative identification of locally advanced colon cancer is of importance in order to properly plan treatment. PURPOSE: To study high resolution T2-weighted magnetic resonance imaging (MRI) versus computed tomography (CT) for preoperative staging of colon cancer with surgery and histopathology as reference standard. MATERIAL AND METHODS: Twenty-eight patients with a total of 29 tumors were included. Patients were examined on a 1.5 T MR unit using a phased array body coil. T2 turbo spin-echo high resolution sequences were obtained in a coronal, transverse, and perpendicular plane to the long axis of the colon at the site of the tumor. Contrast-enhanced CT was performed using a protocol for metastasis staging. The examinations were independently evaluated by two gastrointestinal radiologists using criteria adapted to imaging for prediction of T-stage, N-stage, and extramural venous invasion. Based on the T-stage, tumors were divided in to locally advanced (T3cd-T4) and not locally advanced (T1-T3ab). Surgical and histopathological findings served as reference standard. RESULTS: Using MRI, T-stage, N-stage, and extramural venous invasion were correctly predicted for each observer in 90% and 93%, 72% and 69%, and 82% and 78% of cases, respectively. With CT the corresponding results were 79% and 76%, 72% and 72%, 78% and 67%. For MRI inter-observer agreements (Kappa statistics) were 0.79, 0.10, and 0.76. For CT the corresponding results were 0.64, 0.66, and 0.22. CONCLUSION: Patients with locally advanced colon cancer, defined as tumor stage T3cd-T4, can be identified by both high resolution MRI and CT, even when CT is performed with a metastasis staging protocol. MRI may have an advantage, due to its high soft tissue discrimination, to identify certain prognostic factors such as T-stage and extramural venous invasion.
Asunto(s)
Neoplasias del Colon/patología , Imagen por Resonancia Magnética/métodos , Tomografía Computarizada por Rayos X/métodos , Adulto , Anciano , Anciano de 80 o más Años , Neoplasias del Colon/diagnóstico por imagen , Neoplasias del Colon/cirugía , Medios de Contraste , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estadificación de Neoplasias , Valor Predictivo de las Pruebas , Pronóstico , Sensibilidad y EspecificidadRESUMEN
BACKGROUND: Sentinel node (SN) biopsy in esophageal cancer has the potential of becoming an important tool for ruling out the presence of lymph node metastases in patients opted for less extensive surgery without neoadjuvant treatment. PURPOSE: To investigate preoperative SN imaging in esophageal cancer using hybrid single photon emission computed tomography (SPECT)/CT. MATERIAL AND METHODS: Eight patients with esophageal cancer scheduled for thoracoabdominal esophagectomy after neoadjuvant treatment, underwent endoscopic submucosal injection of (99m)Tc-nanocoll the day before surgery, followed by imaging with SPECT/CT for preoperative detection. Intraoperative detection of SNs was performed with a gamma probe. RESULTS: SNs were identified by SPECT/CT in 7/8 cases (88%) and by gamma probe in all cases. The median number of identified lymph node stations with SN in the operating field was 1 (range 0-2) for SPECT/CT and 1 (range 1-3) for gamma probe. The median distance between the perceived location of the respective SN according to SPECT/CT and the location identified with the gamma probe was <5 mm (range <5-15 mm). In one patient who had a complete histologic response to neoadjuvant treatment in the primary tumor, there was one single metastasis that was not contained in one of the SNs. CONCLUSION: Preoperative identification of sentinel nodes with hybrid SPECT/CT after endoscopic injection of radiocolloid is a technique with obvious potential for SN mapping in esophageal cancer.