Atypical chronic myelogenous leukemia in a patient with trisomy 8 mosaicism syndrome.

A 17-year-old woman was admitted for bone marrow transplantation with the diagnosis of atypical Philadelphia-negative chronic myelogenous leukemia (aCML), cytogenetically characterized by trisomy 8 as the sole chromosome aberration. A striking feature was a congenital opacity of the right cornea. Chromosomal analysis of skin fibroblasts were performed and revealed a mosaic for trisomy 8. Commonly, a distinct clinical picture leads to the diagnosis of trisomy 8 mosaicism syndrome (T8ms), but an extreme phenotypic variability has been observed. To our knowledge the development of an aCML in a patient with T8ms has not been reported. A review of the literature revealed that an association to other hematological disorders had been described in two cases. The question of whether our patient's aCML was a random event or not is discussed. The patient is now 24 months post transplant and shows no evidence of disease. Her Karnofsky score is 100%. We conclude that it might be worthwhile to look for an associated constitutional trisomy 8 mosaicism in all patients with trisomy 8 leukemia.

A study of multidrug resistance and cell kinetics in a child with near-haploid acute lymphoblastic leukemia.

Marked hypodiploidy is found in a small group of patients with acute lymphoblastic leukemia (ALL) and is associated with very poor prognosis. Cells from a patient with near-haploid ALL (karyotype: 27 XY, DNA index = 0.5) were investigated by multiparameter flow cytometry at relapse and at multiple time-points during reinduction chemotherapy. The cell cycle of these near-haploid leukemic blasts and their chromatin structure was studied by acridine orange (AO) DNA/RNA flow cytometric assays. Most leukemic cells were in "G0", and no recruitment of the bone marrow cells into the G1 phase of the cell cycle was found during reinduction therapy with high dose cytosine arabinoside. After two cycles of chemotherapy, the patient achieved clinical remission, but persistent haploid cells were identified by flow cytometry and he relapsed after 8 weeks and died after 16.7 weeks. The leukemic blasts expressed very high levels of a 180 kd p-glycoprotein associated with multidrug resistance and daunomycin efflux could be blocked by verapamil. Expression of gp 180 and the verapamil effect on intracellular daunomycin concentration indicate multidrug resistance. We conclude that cell kinetic quiescence and multidrug resistance may both be factors responsible for the poor prognosis of this patient with near-haploid ALL. Further studies of this patient group should determine if these mechanisms are indeed responsible for the poor prognosis associated with near-haploid leukemia.

IgE myelomatosis. Presentation of a new case and summary of literature.

This paper describes a case of IgE (kappa) myeloma in a 39 year old female patient who has been observed for a period of eight years to the present. The findings and the course of disease in this patient were compared with 18 other case reports published since the discovery of IgE in 1966. In contrast to myelomas of other immunoglobulin classes, patients with IgE myelomas are somewhat younger and anaemia and hyperproteinaemia are more pronounced. A plasma cell leukaemia is more frequent and the ratio of light chains has shifted in favour of the kappa chains.

Effects of guar on plasma viscosity and related parameters in diabetic children.

Ten diabetic children supplemented their normal diets with 0.45 g/kg/day guar gum for 4 weeks. They experienced a decrease in (1) plasma fibrinogen, (2) insulin requirement, (3) serum osmolality and (4) plasma viscosity; and an increase in serum albumin and total serum protein concentrations. The decrease in plasma viscosity, which was statistically significant, depended on the increase of albumin and the decrease of fibrinogen and may have some significance to the development of diabetic microangiopathy. The sequence of events eventually leading to a decrease of plasma viscosity is possibly mediated by gip and glucagon, consecutively.