Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0677930 (primary tumor)
 20,210 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Monoclonal antibodies against an estrogen-regulated Mr 24,000 cytosol protein (p24) were used for immunocytochemical localization of p24 in formalin-fixed paraffin-embedded specimens from the primary tumor in 103 patients who received endocrine therapy for advanced breast cancer. Sixty-one per cent of the tumors showed p24-positive staining, and this correlated well with the presence of estrogen receptor (ER) (P = 0.00017, chi-square test). Response to endocrine therapy was obtained in 43% of the patients. A statistically significant association between p24 status and response could not be established, while response and ER status were highly correlated (P = 0.0000029, chi-square = 21.6). Discrimination between ER-positive responders and ER-positive non-responders was not possible using p24 staining.
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PMID:Immunocytochemical determination of the estrogen-regulated protein Mr 24,000 in primary breast cancer and response to endocrine therapy. 271 41

We report the complex cytogenetic analysis of a novel melanoma cell line (M35/01) established from a vertical growth phase of a superficial spreading melanoma. Similarly to its parental tumor, this cell line metastasizes to the liver. Using combined molecular cytogenetic techniques, we could identify a reservoir of chromosomal alterations in M35/01. In addition, we had sufficient amount of DNA from both the original primary tumor and the cell line which allowed for the comparison of their genetic patterns by chromosomal CGH. Several common alterations were found indicating the same clonal origin. These alterations included gains of 6p, 7q, 15q and deletions of 9, 10, 16q and 17p. Chromosomal losses present only in the cell line were detected on chromosome 4, 16p, 18 and gains on 20p12-qter. Array CGH analysis of the M35/01 cell line provided similar results with a much higher resolution, representing relatively high level gains on 7q31.2-q31.31, 15q25, 20q, and losses on 4q28, 9p21-p24, 9q21-q22, 10q25, 16q13-q23, 17p12-13 and 18q12-23. Using SKY-FISH, several structural alterations could be detected which were not recognized by conventional cytogenetics. Except for chromosome 18, none of the centromeres showed normal distribution by FISH. Our analysis shows that a high number of chromosomal alterations, which are known to be nonrandomly associated with melanoma progression, can be found by the combined use of different molecular genetic techniques. This new melanoma cell line would be an excellent model for investigating the mechanism of organ specific-metastatic events of malignant melanoma.
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PMID:Molecular cytogenetic characterization of a novel cell line established from a superficial spreading melanoma. 1636 60

Sarcomatoid carcinoma of the lung (LSC) is a rare lung cancer characterized by an admixture of carcinoma and sarcoma components. Data concerning the genomic alterations of LSC are almost nonexistent. Here, we report on the first molecular cytogenetic characterization of a metastatic LSC. Cytogenetic and multicolor fluorescence in situ hybridization (M-FISH) analyses showed a near-triploid karyotype with numerous structural aberrations and four to six small supernumerary marker chromosomes containing chromosome 9 sequences. Comparative genomic hybridization on arrays (array CGH) detected an amplification of 9p23 approximately p24.3 and gains of 1q11 approximately q23.3, 3q26.2 approximately q29, and 17q23.2 approximately q24.1. The 9p amplification was also detected in the primary tumor and another metastasis of the same patient, indicating it was a significant element in the pathogenesis of this LSC case. Complementary FISH analysis showed that the small supernumerary chromosomes were isochromosomes for 9p23 approximately p24.3. These isochromosomes were lacking alpha-satellite sequences although they were still stable after 55 passages in culture. As demonstrated by immunostaining with anti-centromere antibodies, they contained a functional centromere. So-called analphoid "neocentromeres" are rare and have been mainly described in constitutional abnormal karyotypes. This case is the third description of the identification of neocentromeres in cancer, (i.e. well-differentiated liposarcoma and acute myeloid leukemia), and is the first one in a carcinoma. Our results suggest that the 9p23 neocentromere of this case of LSC might be similar to a 9p23 neocentromere previously identified in two constitutional cases. The frequency of neocentromere formation in solid tumors may indeed be underestimated and may have a significant implication in chromosomal instability in tumor cells.
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PMID:Molecular cytogenetic characterization of a metastatic lung sarcomatoid carcinoma: 9p23 neocentromere and 9p23-p24 amplification including JAK2 and JMJD2C. 1673 11

Biphasic pulmonary blastoma is a rare lung tumor with epithelial and mesenchymal components. Genetic alterations in this tumor are largely unknown, except for the presence of beta-catenin and p53 mutations and the absence of KRAS mutation. To understand the molecular process of histogenesis of this tumor, a whole genome allelic imbalance (AI) scanning using a high-resolution single nucleotide polymorphism array as well as mutational analysis of the p53, EGFR, KRAS and beta-catenin genes were performed against the epithelial and mesenchymal components in the primary tumor and a metastatic tumor in a case of pulmonary blastoma. AI at chromosome regions 14q24-q32 and 17p11-p13 and beta-catenin mutation were commonly detected in all tumors. On the other hand, AI at chromosome regions 3p11-p14 and 9p21-p24 and p53 mutation were detected only in the mesenchymal component in the primary tumor but not in the epithelial component in the primary tumor and the brain metastasis. Likewise, AI at chromosome regions 6p24-p25 and 6q14-q27 was detected in the epithelial component in the primary tumor and the brain metastasis but not in the mesenchymal component in the primary tumor. Furthermore, the genetic alterations detected in the metastatic tumor were completely the same as those in the epithelial component in the primary tumor, indicating that a tumor cell(s) in the epithelial component in the primary tumor selectively metastasized to the brain. These results indicate that this biphasic tumor is of monoclonal origin and the phenotypic heterogeneity of the tumor is due to the differences in the accumulated genetic alterations in each component of the tumor.
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PMID:Clonality and heterogeneity of pulmonary blastoma from the viewpoint of genetic alterations: a case report. 1735 Jan 38