Cases reported "Hepatoblastoma"

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1/8. Karyotypic analyses of hepatoblastoma. Report of two cases and review of the literature suggesting chromosomal loci responsible for the pathogenesis of this disease.

    Two cases of fetal hepatoblastoma with unique karyotypic changes are described. One was a 17-month-old boy with multiple unbalanced chromosomal translocations, resulting in four types of derivative chromosomes involving chromosomal loci at 1q21, 1q32, 2q23, 6q27, 7p22, and 21p12, partial tetrasomy of 1q, partial trisomy of 2q, and partial monosomy of 21p. The clonal karyotype of this tumor was 46,XY,der(2)t(1;2)(q32;q37), der(6)t(1;6)(q12;q27), der(7)t(2;7)(q23;p22), der(21)t(2;21) (q23;p12). In the other case, a 4-year-old girl, karyotypic analyses revealed trisomy 2 and 8, and the clonal karyotype of this case was 48,XX, 2, 8. review of these cases together with previous reports suggested the significance of chromosomal changes including numerical abnormalities of 1q, 2(or 2q), 20, and 8 (or 8q), and breakage of 1q and 2q in the development of hepatoblastoma. The results presented herein underscore the significance of numerical abnormalities of chromosomal regions 1q and 2q and of chromosome 8 in the development of hepatoblastoma, in addition to abnormalities of 6q27, 7p22, and 21p12-13 as other chromosomal loci that may be responsible for the pathogenesis of this embryonal type of tumor.
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ranking = 1
keywords = trisomy, partial trisomy
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2/8. hepatoblastoma in a patient with a partial trisomy 9p syndrome: a case report.

    After an uneventful pregnancy, a boy was born by vacuum extraction at 40.6 weeks' gestation. physical examination revealed several malformations due to a partial trisomy 9p [karyotype: 46,XY, dup(9)(p13p24)]. Three months after birth, the boy presented with a hepatoblastoma without distant metastases which was treated with chemotherapy combined with surgery. At the last follow-up, 15 years after the resection of the hepatoblastoma, he was still in complete remission. To our knowledge this is the first case report of a patient with a constitutional partial trisomy 9p associated with hepatoblastoma.
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ranking = 3.6981285581672
keywords = trisomy, partial trisomy
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3/8. Chromosome 7 aberrations in a young girl with myelodysplasia and hepatoblastoma: an unusual association.

    We report a 30-month-old female with intrauterine growth retardation, postnatal failure to thrive, pancytopoenia and myelodysplasia with monosomy 7 in the marrow. The child succumbed to overwhelming sepsis, following a bone marrow transplant to facilitate chemotherapy for metastatic hepatoblastoma--a tumour that has not been previously reported in myelodysplasia syndromes. Cytogenetic, molecular and microarray analysis of peripheral blood, skin fibroblasts and bone marrow revealed unusual results, suggestive of somatic chromosome instability. A normal peripheral blood karyotype was documented in infancy. monosomy 7 was found in the bone marrow. Molecular (microsatellite marker) results for a later peripheral blood specimen were suggestive of partial maternal isodisomy 7q, and this was supported by microarray data on single-nucleotide polymorphisms. Microarray data on gene copy number, collected for the same blood specimen, indicated cryptic mosaicism for the monosomy 7 cell line, with the monosomic line lacking the paternal copy. In fibroblasts, cytogenetic data showed mosaic partial trisomy for distal 7p.
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ranking = 0.61635475969454
keywords = trisomy, partial trisomy
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4/8. trisomy 2, trisomy 20, and del(17p) as sole chromosomal abnormalities in three cases of hepatoblastoma.

    Short-term cultures of three hepatoblastomas were analyzed cytogenetically. trisomy 2, trisomy 20, and a deletion of 17p were found as the sole abnormalities, yielding the karyotypes 47,XY, 2; 47,XX, 20; and 46,XX,del(17)(p12)/46,XX. This is the first reported case of deletion of 17p as the sole chromosomal abnormality in a hepatoblastoma and the first reported case of trisomy 20 without double minute chromosomes as a sole chromosomal abnormality in hepatoblastoma.
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ranking = 2.3018714418328
keywords = trisomy
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5/8. Significance of extra copies of chromosome 20 and the long arm of chromosome 2 in hepatoblastoma.

    cytogenetic analysis of both primary and metastatic hepatoblastoma revealed the following abnormal chromosomal complements respectively: 46,XX,der(2)t(2;2)(p25;q21),der(22)t(1;22)(q22;p13) [6]/47,XX,der(2)t(2;2)(p25;q21), 20,der(22)t(1;22)q22;p13)[4]/47,XX,der (2)t(2;2)(p25;q21), 20[1], and 48,XX,der(2)t(2;2)(p25;q21), 12, 17, -18, 20,der(22)t(1;22)(q22;p13)[9]/50,XX,der(2)t(2;2)(p25;q21), 8, 12, 17, 20[4]. Two abnormalities, the chromosome 2 derivative and trisomy 20, are recurrent in hepatoblastoma, but the derivative involving chromosomes 1 and 22 is a novel abnormality.
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ranking = 0.38364524030546
keywords = trisomy
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6/8. hepatoblastoma in a child with trisomy 18: cytogenetics, liver anomalies, and literature review.

    A 26-month-old female with trisomy 18 and repaired omphalocele died of metastatic disease after resection of hepatoblastoma (HB) at 21 months of age. Four other cases (three of them published) suggest that the association of trisomy 18 and HB may be nonrandom. karyotype abnormalities of the tumor in our case included duplication of 2q and 20, reported previously in HB arising in patients with normal karyotype. Antecedent growth disturbance of liver, either intrinsic (abnormal lobation) or related to contiguous extrinsic anomalies such as omphalocele or local diaphragmatic hypoplasia and possibly augmented by unusual sensitivity to noxious environmental agents, may predispose to hepatoblastoma in trisomy 18. longevity in trisomy 18 predisposes to both hepatoblastoma and Wilms tumor, possibly by a shared pathway.
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ranking = 3.0691619224437
keywords = trisomy
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7/8. Multiple hepatoblastomas associated with trisomy 18 in a 3-year-old girl.

    A very rare case of full trisomy 18 associated with multiple hepatoblastomas is reported. The patient also had ventricular septal defect and patent ductus arteriosus, which were repaired at 6 months of age. After the cardiac surgery, she was noted to have an abdominal mass and an elevated serum alpha-fetoprotein level. A partial hepatic lobectomy was performed at 7 months of age, and the resected tumor was diagnosed as a fetal-type hepatoblastoma. At 2 years and 4 months of age, a chest radiography disclosed an elevated left diaphragm, and abdominal ultrasonography demonstrated a tumor in the left hepatic lobe. The resected tumor was also diagnosed as a fetal-type hepatoblastoma. Chromosomal analysis demonstrated that the karyotypes of peripheral blood and hepatic tumor cell obtained on two occasions were both 47,XX, 18. She has no evidence of recurrence at 3 years of age without specific therapy.
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ranking = 1.9182262015273
keywords = trisomy
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8/8. fluorescence in situ hybridization reveals trisomy 2q by insertion into 9p in hepatoblastoma.

    cytogenetics and fluorescence in situ hybridization (FISH) of a hepatoblastoma are presented. The results of standard chromosome analysis were as follows: 47,XY, 2,add(4)(q35),-9, 20[10]. FISH with the use of whole-chromosome paints revealed partial trisomy of the long arm of chromosome 2 by insertion into chromosome 9. Comparison of the G-banded metaphases with metaphase FISH led to a reinterpretation of the karyotype as: 47,XY,add(4)(q35),der(9)ins(9;2)(p22;q?21q?25), 20. This case supports previous observations that the critical region of trisomy 2 lies between 2q21 and 2qter and shows how partial trisomy 2q may evade detection in G-banded metaphases.
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ranking = 3.1509357209164
keywords = trisomy, partial trisomy
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