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

A case of classic medulloblastoma that metastasized, despite the absence of local recurrence, to extraneural sites 7 years after treatment is reported. The metastases were, in contrast to the primary tumor, of large cell type and displayed abortive myogenic and, in one site, also rhabdoid differentiation. The primary tumor expressed microtubule-associated protein 1B and neuron-specific nuclear protein (NeuN), and was desmin negative. The metastases were also positive for microtubule-associated protein 1B and NeuN, although the expression of the latter marker was weak and/or focal in two of four metastases and absent in the rhabdoid metastasis. They were, in contrast with the primary tumor, all strongly positive for desmin. The hSNF5/INI1 was expressed in the nuclei of all cells of the primary tumor and the metastases, including the one with rhabdoid differentiation. Two metastases were studied by cytogenetics. The composite karyotype of a large cell metastasis was 45~46,XY,add(1)(p36.1),t(2;8)(p21;q24.1),add(3)(q25),t(9;15)(q22;q13),add(12)(p11.2), +1approximately2mar,inc[cp12]/46,XY[12], while the rhabdoid metastasis contained additional changes including monosomy 22. These findings indicate that some rhabdoid (atypical teratoid/rhabdoid) tumors of the cerebellum and medulloblastoma may be histogenetically related.
 ...
PMID:Differentiation of classic medulloblastoma into metastatic large cell medulloblastoma with focal rhabdoid differentiation in the absence of posterior fossa recurrence. 1575 30

We examined the possibility of using microsatellite and mitochondrial DNA polymorphisms as markers to detect the clonal origin of tumor cells found in the same patient. We considered two children with complex tumor diseases: one with supratentorial primitive neuroectodermal tumors (PNET) and a hepatic rhabdoid tumor and another with brain and abdominal rhabdoid tumors. In the first patient we found an mtDNA cytosine insertion both in the normal tissue and in the primary tumor, whereas in the hepatic tumor we detected an insertion of 2 cytosine. In the second child, who had a constitutional mutation of hSNF5/INI-1, we identified the same mtDNA pattern both in normal tissue and in the abdominal tumor but not in the brain tumor, which presented three different mtDNA polymorphisms. Thus, we demonstrated the same clonal origin for tumors in the first patient and different clonal origins of the tumors in the second patient. At times it is very difficult to discriminate two neoplastic lesions or metastatic diseases by using only histopathologic techniques. Molecular examination of clonality is a useful tool to obtain information about the origin of synchronous and/or metachronous tumors found in the same patient.
 ...
PMID:Clonality analysis of pediatric multiple tumors: two case reports and laboratory investigation. 1667 23

A new human malignant rhabdoid tumor (MRT) cell line (designated FRTK-1) was established from MRT of the kidney of an 18-month-old boy. The cell line is maintained for over 24 months with more than 100 passages. FRTK-1 cells in vitro showed 2 different growth patterns, adherent and non-adherent patterns. The FRTK-1 cells showed the same morphological and immunophenotypical characteristics as primary tumor cells of kidney. Cytogenetic and molecular analyses revealed a non-sense mutation in the hSNF5/INI1 gene and loss of expression of hSNF5/INI1 gene product protein. Epidermal growth factor receptor (EGFR) and cyclooxygenase-2 (COX-2) were expressed in the FRTK-1 cells. Until now, there has been no report of MRT cell lines with expression of COX-2. Therefore, FRTK-1 cell line might be useful for investigating biological behavior and developing new molecular targeting antitumor drugs for MRT with expression of EGFR or COX-2.
 ...
PMID:Establishment and characterization of a new cell line, FRTK-1, derived from human malignant rhabdoid tumor of the kidney, with overexpression of epidermal growth factor receptor and cyclooxygenase-2. 1682 Sep 1