Caso atípico de leucemia mieloide aguda con coexistencia de NPM1-A e inversión del cromosoma 16 / A rare case of acute myeloid leukemia with coexistence of NPM1-A mutation and chromosome 16 inversion

Introducción: La leucemia mieloide aguda (LMA) es un grupo heterogéneo de desórdenes clonales con una gran variabilidad en términos de patogénesis, características morfológicas, genéticas e inmunofenotípicas. Las mutaciones en el gen NPM1 representan una de las más comunes en las LMA y está asociada con una respuesta clínica favorable. Por citogenética, la inversión del cromosoma 16 define el subgrupo de las LMA de factor de unión al grupo con un pronóstico favorable. Objetivo: Describir un caso con diagnóstico de LMA en los cuales el estudio molecular del gen NPM1 y de la inv(16) fueron positivos. Caso clínico: A nivel molecular, la hibridación in situ fluorescente fue positivo a la inv(16) y por biología molecular fue positivo tanto a la inv(16) como al gen NPM1-A, elementos de baja frecuencia de aparición. Se le administró a la paciente un esquema de poliquimioterapia no intensiva para mejorarla clínicamente. Después de una mejoría clínica inicial, la paciente comenzó con complicaciones y falleció. Conclusiones: La coexistencia de estas dos mutaciones es muy poco frecuente en pacientes con LMA, y a pesar de ser de buen pronóstico la paciente falleció a los pocos días de tratamiento(AU)

Introduction: Acute myeloid leukemia (AML) is a heterogeneous group of clonal disorders with great variability in terms of pathogenesis, morphological, genetic and immunophenotypic characteristics. NPM1 mutations represent one of the most common in AML and are associated with favorable clinical response. By cytogenetics, chromosome 16 inversion defines, with a favorable prognosis, the core‐binding factor for the subgroup of AMLs Objective: To describe a AML case in which the molecular study of the NPM1 gene and the chromosome 16 inversion were positive. Clinical case: At the molecular level, fluorescent in situ hybridization was positive for chromosome 16 inversion and, by molecular biology, it was positive for both chromosome 16 inversion and for the NPM1-A gene, elements with a low frequency of appearance. The patient was administered a non-intensive combination as part of a chemotherapy regimen to improve her clinical status. After initial clinical improvement, the patient began with complications and died. Conclusions: The coexistence of these two mutations is very rare in patients with AML. Despite presenting a good prognosis, the patient died after a few days of treatment(AU)

Síndrome de Townes-Brocks, depresión y adicción a inhalantes: a propósito de un caso / Townes-Brocks syndrome (TBS), major depression and inhalant addiction: a case report

El síndrome de Townes-Brocks (TBS) es un trastorno autosómico dominante con múltiples malformaciones y de expresión variable. Presentamos el caso de una mujer de 22 años de edad con malformaciones en el oído externo, ano imperforado, riñones en herradura, desviación cubital del pulgar, sindactilia en los dedos de ambos pies, estrabismo, útero bicorne y retardo mental; quien desarrolló distimia, depresión mayor y adicción a inhalantes.

Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations and variable expression. We present a case of a 22-year-old woman with external ear malformations, imperforate anus, renal fusion, ulnar deviation of the thumbs, syndactyly in toes, strabismus, uterus bicornis and mental retardation who developed dysthymia, major depression and inhalant addiction.

A Case of Chromosome 16 Disorder with Unilateral Multicystic Displastic Kidney

The survival rate of neonates with aberrations of chromosome 16 is very low because they are incompatable with life. We encountered a case of a chromosome 16 aberration in a female neonate who showed multiple congenital malformations suggestive of chromosomal anomaly including round face, hypertelorism, low-set ears, cleft palate, multiple heart anomalies, bilateral hearing loss, right multicystic dysplastic kidey, proximally located thumbs, planovalgus, and muscle hypotonia. We report the case with a brief review of the literature.

An Unbalanced Translocation of Chromosome 16 Associated with Multiple Congenital Anomalies

We present a case of de novo reciprocal unbalanced translocation of chromosome 16, [46, XX, 8p+, der(8)t(8;16)(p23;q13)enh(16)], associated with clinical features, including anal atresia, vertebral anomaly, urogenital anomaly, single umbilical artery, ventricular septal defect and bilateral sensorineural hearing losses.

Construction of Deletion Map of 16q by LOH Analysis from HCC Patients and Physical Map on 16q 23.3 - 24.1 Region

Loss of heterozygosity (LOH) has been used to detect deleted regions of a specific chromosome in cancer cells. LOH on chromosome 16q has been reported to occur frequently in progressed hepatocellular carcinoma (HCC). Liver tissues from 37 Korean HCC patients were analyzed for LOH by using 25 polymorphic microsatellite markers distributed along 16q. Out of the 37 HCC patients studied, 21 patients (56.8%) showed LOH in various regions of 16q with at least one polymorphic marker. Puring the analysis of these 21 LOH cases, 6 patients showed interstitial LOHs in which the boundary of the LOH region was defined. With two rounds of LOH analysis, five commonly occurring interstitial LOH regions were identified; 16q21-22.1, 16q22.2 - 22.3, 16q22.3, 16q23.2 and 16q23.3 - 24.1. Among the five LOH regions the 16q23.3 - 24.1 region has been reported to be related with chromosome instability. A complete physical map, which covers the 3.2 Mb region of 16q23.3 - 24.1 (D16S402 and D16S486), was constructed to identify novel candidate tumor suppressor genes. We provide the minimally tiling path map consisting of 28 BAC clones. There was one gap between NT_10422.11 and NT_019609.9 of the human genome sequence contig (NCBI sequence build 33, April 29, 2003). This gap can be filled by sequencing the R-1425M20 clone which bridges these sequence contigs.

Identification of Tumor Suppressor Loci on the Short Arm of Chromosome 16 in Primary Small Cell Lung Cancers / 결핵

BACKGROUND: Loss of the short arm of chromosome 16 is a frequent event in various cancers, which suggests the presence of tumor suppressor gene(s) there. To map precise tumor suppressor loci on the chromosome arm for further positional cloning efforts, we tested 23 primary small cell lung cancers. METHODS: The DNAs extracted from paraffin embedded tissue blocks with primary tumor and corresponding control tissue were investigated. Twenty polymorphic microsatellite markers located in the short arm of chromosome 16 were used in the microsatellite analysis. RESULTS: We found that six (26.1%) of 23 tumors exhibited LOH in at least one of tested microsatellite markers. Two (8.7%) of 6 tumors exhibiting LOH lost a larger area in chromosome 16p. LOH was observed in five common deleted regions at 16p. Among those areas, LOH between D16S668 and D16S749 was most frequent (21.1%). LOH was also observed at four other regions, between D16S3024 and D16S748, D16S405, D16S420, and D16S753. Six of 23 tumors exhibited shifted bands in at least one of the tested microsatellite markers. Shifted bands occurred in 3.3% (15 of 460) of the loci tested. CONCLUSION: Our data demonstrated that at least five tumor suppressor loci might exist in the short arm of chromosome 16 and that they may play an important role in small cell lung cancer tumorigenesis.