Impact of Fluorescence in Situ Hybridization in the Detection of Cryptic Fusion Transcript PML/RARA and A Complex t(5;15;17) in a Case of Acute Promyelocytic Leukemia.

Genetic aspects of a 28 year-old female patient with typical morphological and clinical features of acute promyelocytic leukemia is presented. Pml/rara fusion transcript and a complex translocation involving chromosomes 5, 15 and 17 were detected by fluorescence in situ hybridization (FISH) technique which was applied as in adjunct to conventional cytogenetics. The patient deceased soon in spite of the immediate ATRA and cytostatic therapy.

del(17)(q25) in a patient with hairy cell leukemia: a new clonal chromosome abnormality.

Clonal chromosomal aberrations are reported in about 25% of the patients with hairy cell leukemia (HCL). No consistent cytogenetic abnormality has been described in HCL; most of the chromosomal changes found have been deletions and inversions, with the rare occurrence of translocations. While most of the chromosomal aberrations in HCL are common to the ones found in B cell chronic lymphocytic leukemia and other B cell lymphoproliferative disorders, there are also certain chromosomal changes that are not found in other B cell lymphoproliferative disorders. We present here a 63-year-old male patient with hairy cell leukemia with the clonal del(17)(q25), which has not previously been reported in HCL.

Application of the 'Apt test' in prenatal diagnosis to evaluate the fetal origin of blood obtained by cordocentesis: results of 30 pregnancies.

This study aimed to set up a practical lab-side approach to discriminate fetal from maternal blood in samples obtained by cordocentesis. To determine the fetal origin of the blood, a modified Apt test was applied to 30 cases of prenatal diagnosis. A change of colour of the fetal and adult blood during the procedure was the hallmark to assess fetal origin. At the end of 60 s of the test, fetal blood yielded a pink colour whereas adult blood was dark green-brown. The test was repeated in mixtures of fetal and adult blood. The results suggest that the modified Apt test is a practical, quick, inexpensive, and efficient test to determine the origin of blood samples obtained by cordocentesis. However, it should be kept in mind that samples containing a mixture of both fetal and adult blood could also yield a fetal blood reaction. When maternal contamination is suspected, we propose that at least 30 metaphases from different slides should be counted. This could yield fetal as well as maternal chromosomes.