Browsing Molecular Pathology by issue date
Now showing items 1-20 of 497
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Molecular cytogenetic analysis consistently identifies translocations involving chromosomes 1, 2 and 15 in five embryonal rhabdomyosarcoma cell lines and a PAX-FOXO1A fusion gene negative alveolar rhabdomyosarcoma cell line.
(2001-01)Rhabdomyosarcoma in children is a "small round blue cell tumour" that displays skeletal muscle differentiation. Two main histological variants are recognised, alveolar (ARMS) and embryonal (ERMS) rhabdomyosarcoma. Whereas ... -
Up-regulation of WNT-4 signaling and dosage-sensitive sex reversal in humans
(2001-05)Up-regulation of WNT-4 signaling and dosage-sensitive sex reversal in humans. Wnt-4, a member of the Wnt family of locally acting secreted growth factors, is the first signaling molecule shown to influence the sex-determination ... -
Acute myeloid leukaemia MO: haematological, immunophenotypic and cytogenetic characteristics and their prognostic significance: an analysis in 241 patients
(2001-06)Haematological, immunophenotypic and cytogenetic characteristics were analysed in 241 patients with acute myeloid leukaemia (AML) M0, including 58 children. Children < 3 years and adults between 60 and 70 years of age were ... -
Interferon alpha and zidovudine therapy in adult T-cell leukaemia lymphoma: response and outcome in 15 patients
(BLACKWELL SCIENCE LTD, 2001-06)Adult T-cell leukaemia lymphoma (ATLL) is an aggressive disease caused by the human T-lymphotropic virus 1 (HTLV-I) with a short survival, Responses to interferon alpha (IFN-alpha) and zidovudine (AZT) have been documented ... -
The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype.
(2001-07)The hereditary spastic paraplegias (HSPs) are a complex group of neurodegenerative disorders characterized by lower-limb spasticity and weakness. Silver syndrome (SS) is a particularly disabling dominantly inherited form ... -
Deletions of D13S25, D13S319 and RB-1 mapping to 13q14.3 in T-cell prolymphocytic leukaemia
(BLACKWELL SCIENCE LTD, 2001-08)Deletions of 13q14.3 are well known in several malignancies and are thought to be associated with tumour suppressor function. The RB-1 gene is a tumour suppressor gene, but other loci including D13S319 and D13S25 telomeric ... -
Comparative genomic hybridization and amplotyping by arbitrarily primed PCR in stage A B-CLL
(2001-10-01)Cytogenetic analysis is useful in the diagnosis and to assess prognosis of B-cell chronic lymphocytic leukemia (B-CLL). However, successful cytogenetics by standard techniques has been hindered by the low in vitro mitotic ... -
Transformation of T-cell large granular lymphocyte leukaemia into a high-grade large T-cell lymphoma
(WILEY-BLACKWELL, 2001-12)We describe a case of T-cell large granular lymphocyte (LGL) leukaemia that transformed into a large-cell T-cell lymphoma 11 years from diagnosis. A 29-year-old asymptomatic female presented in 1989 with lymphocytosis, ... -
CD34 and CD117 are overexpressed in AML and may be valuable to detect minimal residual disease
(2002)We estimated by quantitative flow cytometry (FC) the expression of CD13, CD33, CD34 and CD117 antigens in cells from 64 patients with acute myeloid leukaemia (AML) and 22 normal bone marrows (BMs). The method converts ... -
Alemtuzumab in T-cell malignancies
(HUMANA PRESS INC, 2002)Alemtuzumab is a humanized monoclonal antibody directed against the CD52 antigen, which is abundantly expressed on all normal and most malignant T-lymphocytes. We summarize the results of our experience using alemtuzumab ... -
Current status of HER2 testing.
(2002-01)HER2 gene amplification and receptor overexpression by tumors seems to be associated with poorer prognosis and may be predictive of response to certain anticancer therapies. Furthermore, and paramount to the clinician and ... -
Breakpoints in the ataxia telangiectasia gene arise at the RGYW somatic hypermutation motif
(2002-01-17)The mature sporadic T-cell malignancy, T-cell prolymphocytic leukemia (T-PLL) is remarkable for frequently harbouring somatic mutations of the Ataxia Telangiectasia (A-T) gene, ATM. Because some data suggest ATM is frequently ... -
Revised guideline on immunophenotyping in acute leukaemias and chronic lymphoproliferative disorders
(BLACKWELL PUBLISHING LTD, 2002-02) -
Variation in the CTLA4/CD28 gene region confers an increased risk of coeliac disease.
(2002-03)Susceptibility to coeliac disease involves HLA and non-HLA-linked genes. The CTLA4/CD28 gene region encodes immune regulatory T-cell surface molecules and is a strong candidate as a susceptibility locus. We evaluated ... -
New additions to antibody panels in the characterisation of chronic lymphoproliferative disorders
(2002-03)Advances in flow cytometry techniques and the availability of monoclonal antibodies that detect key functional molecules on lymphocytes have contributed greatly to a more precise diagnosis of the chronic lymphoproliferative ... -
Translocation t(2;7)(p12;q21-22) with dysregulation of the CDK6 gene mapping to 7q21-22 in a non-Hodgkin’s lymphoma with leukemia
(2002-04)Background and Objectives. A female patient presented with splenomegaly and lymphocytosis with atypical lymphoid cell morphology, We identified t(2;7)(p12;q21) prompting studies of the translocation breakpoint and its ... -
Splenectomy in mantle cell lymphoma with leukaemia: a comparison with chronic lymphocytic leukaemia
(BLACKWELL PUBLISHING LTD, 2002-09)We reviewed data on 63 patients with mantle cell lymphoma (MCL) with leukaemia (n = 16) and chronic lymphocytic leukaemia (CLL, n = 47), splenectomized over a 10-year period. Primary indications for surgery were cytopenia(s) ... -
Prolymphocytic leukaemia and Hodgkin’s lymphoma
(2002-09)We describe a case of B-prolymphocytic leukaemia (B-PLL) who, following a long-lasting remission with fluradabine, developed a Hodgkin’s lymphoma (HL) with bone marrow involvement. A 75-yr-old male was found to have a ...
