Judith Heyd

Clinical Implications of Fluorescence In Situ Hybridization Analysis in 13 Chronic Myeloid Leukemia Cases: Ph-Negative and Variant Ph-Positive

Thirteen chronic myeloid leukemia (CML) patients, 10 with variant Philadelphia (Ph) translocations and 3 Ph negative cases, were analyzed by fluorescence in situ hybridization (FISH) with the use of BCR and ABL cosmid probes and a chromosome 22 painting probe. In the variant Ph translocations, the BCR-ABL fusion gene was located on the Ph chromosome; in 1 CML Ph-negative patient, the BCR-ABL fusion gene was located on the Ph chromosome; and, in 2 patients, it was located on chromosome 9. The chromosome 22 painting probe was detected on the third-party chromosome of the variant translocation, and in none of the variant translocations was there any detectable signal on chromosome 9. In CML patients with clonal evolution of a simple Ph, a signal of the chromosome 22 painting probe was detected on the der(9) of the Ph translocation. It was concluded that the variant Ph translocations evolved simultaneously in a three-way rearrangement. The clinical parameters of the 13 patients were similar to those of a large group of CML patients with a simple Ph translocation. It is suggested that, to determine the prognosis of CML patients with a complex karyotype, FISH analysis with a chromosome 22 painting probe be performed.

Diagnostic value of the D-dimer test in deep vein thrombosis: improved results by a new assay method and by using discriminate levels.

Previous studies have suggested that D-dimer testing reliably selects patients for whom duplex sonography should be performed for diagnosis of deep vein thrombosis (DVT). However, the interassay correlation is poor. Therefore, we tested four D-dimer methods for their ability to rule out DVT, including the Miniquant test, a new D-dimer assay method. Sensitivity, specificity, negative predictive value (NPV) and positive predictive value (PPV) were calculated vs. duplex sonography. Twenty-nine of 108 (27%) patients with suspected DVT were diagnosed as having DVT by sonography. The Vidas enzyme-linked immunoabsorbent assay (ELISA) test, the Miniquant turbidimetric test and the latex agglutination test for D-dimer all provided discriminate values for achieving 100% sensitivity and 100% NPV. D-dimer results demonstrated higher specificity and PPV in the outpatient vs. the inpatient group. This probably reflects the higher proportion of inpatients with comorbid conditions, such as malignancy and postsurgery status, in whom D-dimer results show very poor specificity and PPV. The new Miniquant turbidimetric assay performed as well as the more established ELISA method. We conclude that the D-dimer tests were shown to possess the necessary sensitivity and NPV to be useful in screening patients with suspected DVT. A negative D-dimer test in selected patients could be helpful in reducing the number of sonograms performed for diagnosis of DVT.

Hodgkin's disease of the skin. A case report

A 74 year‐old woman presented with cutaneous Hodgkins disease and local bone involvement. Both were secondary to regional lymph flow obstruction by lymph nodes massively involved by nodular sclerosing Hodgkins disease. Though a temporary remission was achieved by combination chemotherapy, skin lesions were quick to reappear in spite of continued treatment. This was felt to be due to local mechanical factors. A review of the literature reveals two main patterns of Hodgkins disease of the skin. In one, the disease is either confined to the skin, or is unrelated to existing nodal or visceral involvement. In the other, skin infiltration is secondary to regional lymph node involvement by Hodgkins disease, as seen in our patient. The pattern of skin involvement by Hodgkins disease should be taken into consideration in assessing its prognostic significance.

Transient Severe Eosinophilia Precipitating Massive Venous Thrombosis in a Patient with Hereditary Thrombophilia

We describe a patient homozygous for both the prothrombin G20210A and methylenetetrahydrofolate reductase C667T mutations who was symptom-free for 40 years and developed near-catastrophic thrombotic complications following transient, severe eosinophilia. This course of events raises the possibility of an increased risk of thrombosis associated with transient eosinophilia in the presence of hereditary thrombophilia and supports the concept of multifactorial etiology of venous thrombosis. Our experience suggests that in patients with severe eosinophilia, evaluation for known causes of hereditary or acquired thrombophilia may be useful for identifying subjects at increased risk of thrombosis.