摘要:

AbstractA discordance between p53 protein overexpression and the presence of mutations in the gene has been observed in many types of tumors, including human lymphomas. To probe this finding, we have studied a large series of 94 lymphomas of different pathologic types and histologic differentiation. Analyzing exons 5–9, we have found mutations in the p53 gene in 7 of 94 cases distributed in different subtypes: 4/12 (33%) high‐grade B‐cell non‐Hodgkin's lymphomas (B‐NHLs), in 1 of 5 (20%) high‐grade mucosa‐associated lymphomas (MALT), in 1 of 22 (4.5%) anaplastic large cell lymphoma (ALCL), and in 1 of 24 (4%) T‐cell NHLs. Immunostaining with anti‐p53 antibody DO‐7 was possible in 87 lymphomas, and overexpression of p53 protein was observed in 16 cases (18%). A discrepancy between the results of SSCP and immunostaining was detected in 18 tumor samples. Two cases with mutations in the gene showed no altered protein expression and 16 cases overexpressed p53 protein had no point mutations. In these cases, the possibility that mutations occur outside the exons studied has been tested and the entire coding sequence analyzed. Only one case showed a mutation in exon 10, and we found two cases carrying a polymorphism in exon 4 and in intron 10.We conclude that mutations in p53 occur mainly in high‐grade B‐cell NHLs. Although not limited to a specific subtype of lymphoma, they may be rare in Hodgkin's disease and in low‐grade lymphomas. The discrepancies between overexpression and presence of mutations suggest (1) the existence of another mechanism to stabilize the p53 protein, and (2) that the immunohistochemistry cannot be used to predict mutations in the gene. Am. J. Hematol. 55:1‐8, 1

ISSN:0361-8609    

DOI:10.1002/(SICI)1096-8652(199705)55:1<1::AID-AJH1>3.0.CO;2-Y

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1997

数据来源: WILEY

摘要:

AbstractWe examined plasma levels of activated factor VII (F VIIa) in 50 patients positive for lupus anticoagulant (LA), in 83 patients negative for LA, and in 10 healthy volunteers as controls. Plasma F VIIa was present in healthy volunteers; its level was significantly increased, compared to the level in the controls, in patients with thrombosis, collagen diseases, and disseminated intravascular coagulation (DIC), suggesting that it reflected a thrombotic state. Plasma F VIIa was correlated with thrombin‐antithrombin complex (TAT) in patients negative for LA but showed no such correlation in those positive for LA. Plasma F VIIa was negatively correlated with activated partial thromboplastin time (APTT) in patients positive for LA, but not in those negative for LA, suggesting that LA could inhibit the F VIIa assay system. Plasma F VIIa level was significantly increased in patients with thrombotic diseases; however, in patients positive for LA, it is possible that increased plasma F VIIa level may not be correlated with thrombogenicity. Am. J. Hematol. 55:9‐14, 1997. © 1997 Wiley‐Lis

ISSN:0361-8609    

DOI:10.1002/(SICI)1096-8652(199705)55:1<9::AID-AJH2>3.0.CO;2-Y

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1997

数据来源: WILEY

摘要:

AbstractOur objective was to determine whether endothelial cell products von Willebrand factor and soluble E‐selectin are related to serum lipids, lipoprotein (a), and vascular disease in patients with hyperlipidaemia. In order to achieve our aim, blood samples were obtained for four experiments from 1) 160 patients (49 with symptomatic vascular disease) with hypercholesterolaemia and an equal number of age and sex matched controls; 2) 31 patients who were studied serially before and after successful resolution of their hypercholesterolaemia; 3) 15 patients with hypertriglyceridaemia; and 4) 20 controls, half of whom consumed a lipid‐rich breakfast. von Willebrand factor and soluble E‐selectin were measured by enzyme linked immunosorbent assay (ELISA) using commercial reagents. In experiment (1) von Willebrand factor was increased in the patients with hypercholesterolaemia (P=0.0077) and was higher still in patients with vascular disease (P<0.0001). Soluble E‐selectin was not influenced by hypercholesterolaemia or vascular disease. The correlation of von Willebrand factor with total and LDL cholesterol (bothP<0.001) remained after both age and blood pressure were controlled. Experiment (2) showed that serial studies in patients over an average of 7 months a reduction in total cholesterol was associated with a reduction in von Willebrand factor (r=0.51,P=0.002). Experiment (3) demonstrated that von Willebrand factor was not increased in patients with hypertriglyceridaemia (median 8.9 mmol/L), and in experiment (4) a lipid‐rich breakfast taken by fasted, healthy controls produced an increase in serum triglycerides (P<0.01) but did not influence von Willebrand factor over an 8 hour period. We conclude that von Willebrand factor, but not soluble E‐selectin, is raised in hypercholesterolaemia and therefore may be a potential indicator of endothelial cell physiology in subjects with, or at risk of, atherosclerotic vascular disease. Am. J. Hematol. 55:15‐23, 1997. © 1997 W

ISSN:0361-8609    

DOI:10.1002/(SICI)1096-8652(199705)55:1<15::AID-AJH3>3.0.CO;2-6

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1997

数据来源: WILEY

摘要:

AbstractWe have studied haplotype of βschromosome and α‐globin gene status in 534 patients (255 adults and 279 children of whom 159 neonates) from Guadeloupe with various sickle cell‐related conditions, namely SS (n = 298), SC (n = 170), S‐β ‐thal (n = 56), and other rare forms (n = 10). Haplotype data on βschromosomes confirm our previous observation that Benin type is the most prevalent (75%) βschromosome in Guadeloupe, in disagreement with the historical records. Comparison of the frequency of distribution of various βshaplotypes between neonates and adults on the one hand and between SS and SC cases on the other shows that the current βshaplotype distribution in this island is not distorted by haplotype‐related differential survival. We also show that the frequency of α‐thalassemia (‐3.7 kb) in Guadeloupe is one of the highest recorded in this region involved in Atlantic slave trade and also failed to reveal any age‐dependent increase in frequency. We conclude that the African component of Guadeloupe is distinct from that of Brazil and Cuba but is close to that of Jamaica. Am. J. Hematol. 55:24‐27, 199

ISSN:0361-8609    

DOI:10.1002/(SICI)1096-8652(199705)55:1<24::AID-AJH4>3.0.CO;2-5

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1997

数据来源: WILEY

摘要:

AbstractGaucher disease, the most prevalent sphingolipidosis, generally presents with splenomegaly, anemia, and thrombocytopenia. Hence, hematologists are often the specialists involved in diagnosis and management of these patients. We present ultrasonographic characteristics in a cohort of 218 consecutive Gaucher patients evaluated in our clinic during the past 5 years. Our data emphasize the high prevalence of lesions mimicking hematological malignancies in Gaucher disease. One fifth of 184 non‐splenectomized patients had intra‐splenic lesions, 6% of all patients had similar lesions in the liver, and 32% of 34 splenectomized patients (but none of the other patients) had marked retroperitoneal or peri‐portal lymphadenopathy.The presence of splenic lesions correlated with age and splenic size, but not with extent of bone involvement or genotype. Interestingly, they were not affected by reduction in splenomegaly following enzyme replacement therapy.The importance of these findings is to include Gaucher disease in the differential diagnosis of splenic or hepatic lesions, especially in Ashkenazi Jews. Conversely, they are relevant for follow‐up of all Gaucher patients, including asymptomatic individuals, because of the reported increased incidence of hematological malignancies in Gaucher disease. Am. J. Hematol. 55:28‐34, 1997. © 1997 Wiley

ISSN:0361-8609    

DOI:10.1002/(SICI)1096-8652(199705)55:1<28::AID-AJH5>3.0.CO;2-5

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1997

数据来源: WILEY

摘要:

AbstractA 21‐year‐old woman with malignant lymphoma received a large dose of nitrogen mustard followed by autologous bone marrow. She achieved a complete remission that lasted 21 years. This was followed in a span of 10 years by two relapses that responded to chemotherapy and splenectomy. Death resulted from sepsis. At autopsy, there was minimal evidence of malignant lymphoma, but evidence for side effects of chemotherapy was present. Am. J. Hematol. 55:35‐38, 1997. © 1997 Wiley‐L

ISSN:0361-8609    

DOI:10.1002/(SICI)1096-8652(199705)55:1<35::AID-AJH6>3.0.CO;2-4

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1997

数据来源: WILEY

摘要:

AbstractMacroenzymes are complexes of serum enzymes with a plasmatic protein. They have a higher molecular weight and a more prolonged serum half‐life than those of unbound enzymes. Although macroenzymes may be found in the serum of post‐myocardial infarction patients, they are not usually associated with any specific disease. Their presence, however, can use an elevation in the serum levels of an enzyme, possibly leading to errors in diagnosis. We report a patient with extremely elevated serum levels of lactate dehydrogenase (LDH) due to the formation of complexes with immunoglobulin G. She had undergone a myriad of clinical examinations until the macroenzyme responsible for this finding was detected. We also review the literature on the clinical significance of macro‐LDH. We propose that awareness of this rare and probably benign phenomenon can spare the patient from the distress of exhaustive investigations. Am. J. Hematol. 55:39‐40, 1997. © 1997 Wiley

ISSN:0361-8609    

DOI:10.1002/(SICI)1096-8652(199705)55:1<39::AID-AJH7>3.0.CO;2-4

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1997

数据来源: WILEY

摘要:

AbstractTrisomy 11 as a sole chromosomal abnormality is a rare aberration observed in myelodysplastic syndrome (MDS) or acute myeloblastic leukemia (AML). Recently a partial tandem duplication of theMLLgene, located on chromosome band 11q23, has been identified in de novo AML with trisomy 11. We describe a 72‐year‐old woman suffering from MDS‐derived overt leukemia with trisomy 11 and a tandem duplication of theMLLgene. At first the patient was found to have myeloblasts with Auer rods in the peripheral blood and diagnosed as MDS, refractory anemia with excess of blasts in transformation (RAEB‐T). After 2 months a picture of overt leukemia (AML; M2) developed as shown by an increased number of myeloblasts. Various chemotherapy regimens had little effect, and she died of disease progression 15 months after admission. During her clinical course, the chromosome analyses consistently showed 47,XX, +11. Southern blot analysis of leukemic blasts on admission and in accelerated phase revealed identical rearranged bands of theMLLgene. Fluorescence in situ hybridization analysis excluded the possibility of masked translocation of theMLLgene to other chromosomes. Reverse transcriptase‐polymerase chain reaction (RT‐PCR) analysis using a forward exon 6 primer and a backward exon 3 primer demonstrated an in‐frame fusion of exon 8 with exon 2. Our results indicated that a partial tandem duplication of exons 2‐8 of theMLLgene could be observed in MDS‐derived overt leukemia as well as de novo AML with trisomy 11. Am. J. Hematol. 55:41‐45, 1997. ©

ISSN:0361-8609    

DOI:10.1002/(SICI)1096-8652(199705)55:1<41::AID-AJH8>3.0.CO;2-3

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1997

数据来源: WILEY

摘要:

AbstractInactivation of the retinoblastoma susceptibility (Rb) gene has been observed in various cancers. Nevertheless, in several cancer cases, including non‐Hodgkin's lymphoma, previous investigations showed that the Rb gene product (pRb) was abundantly expressed with varying degree. Here we report the THS‐SP1.1 cell line isolated from non‐Hodgkin's lymphoma. The THS‐SP1.1 cells abundantly expressed pRb and showed resistance against radiation‐induced apoptosis. Culture with the antisense phosphorothioate oligonucleotide complementary to the Rb gene augmented the apoptosis of THS‐SP1.1 cells after radiation, whereas the control oligonucleotides did not. These data showed that pRb abundantly expressed in the lymphoma cells inhibited radiation‐induced apoptosis. Am J. Hematol. 55:46‐48, 1997. © 1997

ISSN:0361-8609    

DOI:10.1002/(SICI)1096-8652(199705)55:1<46::AID-AJH9>3.0.CO;2-3

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1997

数据来源: WILEY

ISSN:0361-8609    

DOI:10.1002/(SICI)1096-8652(199705)55:1<49::AID-AJH10>3.0.CO;2-1

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1997

数据来源: WILEY