1/318. Isolation and characterization of a new human breast cancer cell line, KPL-4, expressing the Erb B family receptors and interleukin-6.A new human breast cancer cell line, KPL-4, was recently isolated from the malignant pleural effusion of a breast cancer patient with an inflammatory skin metastasis. This cell line can be cultured under serum-free conditions and is tumorigenic in female athymic nude mice. Flow cytometric analysis revealed the expression of Erb B-1, -2 and -3. Dot blot hybridization showed a 15-fold amplification of the erb B-2. reverse transcription-polymerase chain reaction analysis showed a detectable level of mRNA expression of all the Erb B family receptors. In addition, all the receptors were autophosphorylated under a serum-supplemented condition. Unexpectedly, transplanted KPL-4 tumours induced cachexia of recipient mice. A high concentration of interleukin-6 (IL-6) was detected in both the culture medium and the serum of mice. The weight of tumours significantly correlated with the serum IL-6 level. The antiproliferative effect of a humanized anti-Erb B-2 monoclonal antibody, rhuMAbHER2, was investigated. This antibody significantly inhibited the growth of KPL-4 cells in vitro but modestly in vivo. Loss of mouse body weight was partly reversed by rhuMAbHER2. These findings suggest that KPL-4 cells may be useful in the development of new strategies against breast cancer overexpressing the Erb B family receptors and against IL-6-induced cachexia.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
2/318. persistent hyperplastic primary vitreous with retinal tumor in tuberous sclerosis: report of a case including tumoral immunohistochemistry and cytogenetic analyses.OBJECTIVE: The authors describe an ocular lesion combining the characteristics of persistent hyperplastic primary vitreous (PHPV) and a retinal tumor in an infant with tuberous sclerosis complex (TSC). STUDY DESIGN: Case report. methods: immunohistochemistry and cytogenetic studies were performed on TSC cells from an intraocular tumor in a 6-week-old infant. RESULTS: Histopathologic examination showed a thick fibrovascular membrane between the aspect of the lens and the astrocytic component of the mass. glial fibrillary acidic protein (GFAP) showed a variable intracytoplasmic reaction in the astrocytic proliferation, involving approximately 50% of the cells. Tissue culture studies showed a fairly rapid proliferation of fusiform cells, consistent with bipolar astrocytic cells. Cytogenetic studies showed one abnormal clone consisting of three hyperdiploid cells with a loss of chromosome 9 and a gain of chromosomes 6 and 12. CONCLUSION: The atypical localization of the retinal tumor could be explained by the fact that it was trapped during its proliferation by the retinal detachment associated with the PHPV.- - - - - - - - - - ranking = 3keywords = life (Clic here for more details about this article) |
3/318. Indeterminate-cell histiocytosis: immunophenotypic and cytogenetic findings in an infant.BACKGROUND: The authors report the immunohistochemical, ultrastructural, and cytogenetic findings in a case of malignant histiocytic proliferation in an infant. PROCEDURE: The patient presented initially with bone lesions without skin or systemic involvement. Multiple biopsies were studied extensively by immunohistochemistry and electron microscopy. Cytogenetic studies of cell cultures supplemented with granulocyte-monocyte colony stimulating factor (GM-CSF) were also performed. RESULTS: Morphologically, the cells resembled langerhans cells, although with greater pleomorphism, as evinced by cells with usual polylobated nuclei. These cells expressed markers for macrophages and antigen presenting cells and were CD1a- and S-100-positive, but lacked Birbeck granules. The cells grown in culture supplemented with GM-CSF showed a unique combination of numerical and structural abnormalities affecting chromosomes 1, 6, 8, and 10. The disease followed a malignant course leading to the patient's demise despite aggressive chemotherapy and bone marrow transplant. CONCLUSIONS: The findings suggest a malignant hematopoietic stem-cell neoplasm with a capacity for macrophage or dendritic-cell differentiation. Morphology and immunophenotypic features place this neoplasm within the group recently conceptualized as indeterminate-cell histiocytosis.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
4/318. A novel philadelphia chromosome-positive cell line with multipotential properties.A novel philadelphia chromosome-positive cell line was established from the peripheral blood of a patient with chronic myelogenous leukemia in megakaryoblastic crisis. This cell line, designated TN922 showed the positive phenotypes for myeloid, monocyte-macrophage, erythroid and megakaryocytic markers. The stimulation with phorbol 12-myristate 13-acetate (PMA) increased the expression of megakaryocytic markers including the platelet peroxidase activity, dimethylsulfoxide or transforming growth factor-beta promoted up-regulation of the erythroid markers. Stimulation with PMA, tumor necrosis factor-alpha or interleukin-6 also brought about the expression of monocytoid markers. These findings indicated that TN922 cell line has the property of acting as multipotential progenitor cells. TN922 cells showed gradual growth in the absence of growth factors but the addition of granulocyte/macrophage colony-stimulating factor (GM-CSF) promoted cell growth. The message of GM-CSF was detected in TN922 cells and the neutralizing antibody against GM-CSF receptor alpha-subunit suppressed cell growth. These results indicated that TN922 cell line proliferates in an autocrine secretion of GM-CSF.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
5/318. Periventricular brain heterotopias in a child with adrenocortical insufficiency, achalasia, alacrima, and neurologic abnormalities (Allgrove syndrome).We describe a previously unreported finding of periventricular heterotopias in a brain magnetic resonance imaging (MRI) study, in a girl with adrenocortical insufficiency, alacrima, achalasia, and neurologic deterioration (Allgrove syndrome). This finding could indicate that the underlying mechanism in this syndrome can be traced to the first half of fetal life and also might cause abnormal neuronal migration. This disorder recently has been linked to chromosome 12q13. There could be several explanations for the clinical heterogeneity in this syndrome: a contiguous gene syndrome involving multiple genes, including one whose deletion causes heterotopias, or a deficiency of a gene for a neurotrophic factor active during pre- and postnatal life and responsible for both migration and survival of neurons could be the cause. The identification of the responsible gene(s) will lead to further understanding of this multisystem disorder.- - - - - - - - - - ranking = 2keywords = life (Clic here for more details about this article) |
6/318. temporal bone histopathologic findings in a case of interstitial deletion of the long arm of chromosome 2 [del(2) (q31q33)].The temporal bones of a 24-day-old female neonate with an interstitial deletion of the long arm of chromosome 2 [del(2)(q31q33)] were studied histopathologically, focusing mainly on the inner ear. This is, to our knowledge, the first report of a temporal bone study in a case of this chromosomal aberration. The abnormalities included a shortened cochlea with underdeveloped modiolus in both ears. Total absence of the spiral ganglion cells and the cochlear nerve bundle, accompanied by obliteration of the fundus of the internal auditory meatus by a bony plate, and dislocation of some geniculate ganglion cells to the internal auditory meatus were also observed in the right ear. The absence of the spiral ganglion cells is considered to be the result of some complication in the early fetal life, such as dysgenesis or early degeneration of the neuronal cells. The organ of corti in the right ear was well-developed and preserved in the middle turn, suggesting that the differentiation of the cochlear sensory epithelium in humans is not dependent upon the innervation, at least on the gross level.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
7/318. Benign infantile familial convulsions: natural history of a case and clinical characteristics of a large Italian family.We present a patient (3 months old) with partial and generalized seizures who has a family history of seizures with a onset during the first 12 months of life. We diagnosed benign infantile familial convulsions (BIFC) and we did not introduce any antiepileptic therapy. We present clinical data of her family where 18 out of 35 members were affected; to our knowledge this is the largest family with BIFC. BIFC is transmitted as an autosomal dominant trait; recently it has been reported that the gene for BIFC maps to the long arm of chromosome 19. We conducted linkage analysis in our family providing significant exclusion of linkage between the BIFC locus phenotype and chromosome 19 markers, suggesting that a second locus is involved in this family.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
8/318. Establishment and characterization of human immature teratoma cell line (TES-1).A new human immature teratoma cell line, TES-1, was established from a surgical specimen from a 12-year old male with third ventricular immature teratoma. TES-1 shows polygonal morphology rich in neurites, and proliferated as adherent monolayer, with an approximate population doubling time of 48 hours. Electron microscopic analysis revealed the presence of swollen rough endoplasmic reticulum, and prominent lipid droplets, lysosomes and microfilaments. The chromosome numbers were between 41 and 160 (mode 78), including abnormal karyotypes 1p-, 5q-, 12p and 17p (G-band analysis). Hetero-transplantation of TES-1 into BALB/c nude mice produced no visible tumors. Multipotential differentiation was not induced in TES-1 monolayer culture, but significant neuron specific enolase activity was expressed in both extracellular (by RIA method) and intracellular fractions (by immunohistochemical method), suggesting the differentiation toward neurocytes. This cell line provides a useful in vitro model for the pathophysiological analysis of immature teratoma.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
9/318. A group of previously not recognized cytogenetic abnormalities in myeloid hematological malignancies.We have identified a group of previously not reported chromosome abnormalities related to myeloid hematological malignancies. Cases 1 and 2 were observed to have an additional i(4)(p10) as the sole anomaly with similar clinical features of myeloid disorders; that is, acute nonlymphocytic leukemia (ANLL-M2) and myelodysplastic syndrome (MDS)-refractory anemia with an excess of blasts in transformation, respectively. fluorescence in situ hybridization studies with the use of a 4p-specific microdissection probe further confirmed the presence of an i(4)(p10) in these patients. Case 3 was diagnosed with ANLL-M1 and had an additional i(8)(p10) as the only change, also confirmed by a whole-chromosome painting procedure. In cases 4-6, deletions of 18q at breakpoints q12, q23, and q21 were identified as the sole anomaly in a myeloproliferative disorder (MPD), MPD, and MDS, respectively. X-autosome translocations other than t(X;10)(p11;p11) and t(X;11)(q13;q23) have not been reported as recurrent or primary changes in hematological disorders. In the present study, a t(X;9)(q26;q22) and t(X;5)(q13;q33) as the sole anomaly were found in cases 7 and 8, respectively. Both cases had the same diagnosis of MDS. Considering that trisomies 4 ( 4) and 8 ( 8) are common anomalies in MDS and ANLL, our findings strongly indicate that amplification of genes on 4p and 8p, but not on 4q and 8q, may play a crucial role in the pathogenesis of MDS and ANLL. In addition, genes on 18q12-23 and on Xq13-26 may be involved in the pathogenesis of myeloid disorders.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
10/318. polycythemia rubra vera progressing to Ph1-positive chronic myelogenous leukemia.polycythemia rubra vera and chronic myelogenous leukemia are both myeloproliferative disorders and, as such, share certain clinical features. Although some myeloproliferative disorders may transform into others, conversion of polycythemia rubra vera to chronic myelogenous leukemia has been denied. We report here an elderly man with polycythemia rubra vera and a normal leukocyte alkaline phosphatase who developed chronic myelogenous leukemia with a low leukocyte alkaline phosphatase and a marrow karyotype of 45, X, Ph1-positive. In addition, we have collected evidence of two similar cases and thus conclude that, although uncommon, polycythemia rubra vera may on occasion progress to chronic myelogenous leukemia.- - - - - - - - - - ranking = 2keywords = life (Clic here for more details about this article) |
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