Analysis of genetic and clinical characteristics of nine cases of myelodysplastic syndrome with near tetraploid/tetraploidy karyotype / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic and clinical characteristics of near-tetraploidy/tetraploidy karyotype (NT/T) in patients with myelodysplastic syndrome (MDS).@*METHODS@#Cytogenetic findings of 1576 inpatients with primary MDS were retrospective analyzed, among which 9 were diagnosed with NT/T. Clinical data including gender, age, morphology, genetic feature and prognosis were analyzed.@*RESULTS@#The prevalence of MDS patients with NT/T (NT/T-MDS) among all cases was 0.57%. Karyotyping analysis suggested that eight MDS patients had sole NT/T, while the remainder one had a complex karyotype. In addition to the typical morphology of MDS, NT/T-MDS had unique morphology including huge blast, double-nuclear cell and irregular nuclear membrane. One NT/T-MDS patient gave up therapy, and the remaining eight underwent the first course of treatment, albeit with poor prognosis. Only one patient had complete remission, one had partial remission, three had no remission; and three had converted to acute myeloid leukemia.@*CONCLUSION@#NT/T-MDS is rare and has unique morphology. Generally, NT/T-MDS patients have poor prognosis. However, NT/T cannot be simply classified as high-risk group, but with consideration whether they have affected particular chromosomal structures as well as other clinical data.

Preliminary analysis of genetics and clinical features of patients with acute myeloid leukemia and near-tetraploid/tetraploidy karyotype / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the genetic and clinical features of patients with acute myeloid leukemia (AML) and near-tetraploidy/tetraploidy (NT/T) karyotype.</p><p><b>METHODS</b>Cytogenetic findings of 1836 cases of primary AML were retrospectively analyzed. Karyotypes of the identified cases were confirmed by fluorescence in situ hybridization (FISH). Clinical data including gender, age, morphology, immunophenotype, genetics, and prognosis were reviewed.</p><p><b>RESULTS</b>Nine male and two female patients with NT/T were identified with a median age of 63 years. Microscopically, the patients were characterized by large blasts and irregular nuclear contours. All patients expressed CD34, and nine of them expressed HLA-DR. Ten patients had complete remission during the first course of treatment. One patient showed primary drug resistance.</p><p><b>CONCLUSION</b>NT/T AML primarily occurs in elder males and has a characteristic morphology and genetics. The prognosis is better than AML patients with complex karyotypes.</p>

Pathogenetic mechanism for a female patient with hemophilia A / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the pathogenetic mechanism for a female patient affected with hemophilia A (HA).</p><p><b>METHODS</b>Potential genetic defect was detected with inverse shifting-polymerase chain reaction (IS-PCR). The pattern of X chromosome inactivation was determined with a human androgen receptor assay (HUMARA assay). G-banded karyotyping was carried out to exclude potential chromosome aberrations.</p><p><b>RESULTS</b>IS-PCR showed that the defect of FVIII gene was the distal type of intron 22 inversion. The HUMARA assay showed that the X chromosome inactivation was non-random, and that the mother's X chromosome activity was lower than that of the father's X chromosome which has carried the inverted FVIII gene. No abnormalities were found with G-banded chromosomes.</p><p><b>CONCLUSION</b>The prevalence of female HA patient may be caused by non-random inactivation of X chromosomes.</p>

Application of fluorescent in situ hybridization in primary diagnosis of aplastic anemia by morphology / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the clinical application of fluorescent in situ hybridization (FISH) for the differential diagnosis of myelodysplastic syndromes (MDS) and aplastic anemia (AA).</p><p><b>METHODS</b>A FISH kit capable of detecting the chromosomal abnormalities related to MDS was used to analyze 94 patients who were suspected to have AA by bone marrow morphology.</p><p><b>RESULTS</b>Cytogenetic abnormalities were detected in 11 of the 94 patients, which included trisomy 8 (5 cases), 20q- (1 case) and -Y (1 case). There were 4 cases related to MDS, which included 3 cases of 5q-, in which 1 case carry 20q- at the same time, and 7q- (1 case). No significant difference was found between the MDS and AA groups in terms of age, sex or routine blood examination including absolute neutrophil count, hemoglobin content and platelet count.</p><p><b>CONCLUSION</b>FISH can detect certain cytogenetic abnormalities related to MDS in patients morphologically diagnosed as AA.</p>