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Query: UMLS:C0027819 (neuroblastoma)
 27,800 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We previously reported a high incidence of loss of heterozygosity (LOH) on chromosome 2q33 in neuroblastoma (NB), observed in various types of human cancers including lung cancer, head and neck cancer and follicular thyroid carcinoma. To better elucidate the role of chromosome 2q aberrations in NB, we examined common allelic imbalance (AI) regions on chromosome 2q in 82 NB patients using 10 polymorphic microsatellite markers. AI on 2q was detected in 26 (32%) of 82 NB cases. There was a distinct common AI region between the D2S115 and D2S307 markers on 2q33. The distance between these markers was about 2.0 cM. Recently, the caspase 8 and caspase 10 genes, both of which encode cystein protease, were mapped to chromosome 2q33. Since the common AI region on 2q33 includes the caspase 8 and caspase 10 genes, the alterations of these genes were examined further. Absent or reduced expression of caspase 8 and caspase 10 were found in 19 (70%) of 27 and two (7%) of 27 NB cell lines by reverse transcription-polymerase chain reaction, respectively. A missense mutation was detected at codon 96, GCT (Alanine) to GTT (Valine), of the caspase 8 gene in one of the NB cell lines lacking caspase 8 expression. Thirteen (68%) of 19 cell lines lacking caspase 8 expression displayed methylation of the CpG island of the caspase 8 gene, whereas only one (13%) of eight cell lines with caspase 8 expression showed caspase 8 methylation (P=0.031). Furthermore, there was a significant association between AI at 2q33 and loss of caspase 8 expression (P=0.026). These results indicated that there was a tumor suppressor gene in the common AI region on chromosome 2q33 involved in the pathogenesis of a subset of NB. It is possible that the caspase 8 gene is one of the candidate tumor suppressor genes for NB and inactivation of this gene plays an important role in the tumorigenesis of NB through mainly its methylation.
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PMID:Allelic imbalance on chromosome 2q and alterations of the caspase 8 gene in neuroblastoma. 1146 26

We report a fetal autopsy case that was diagnosed with a mole coexistent with a live fetus at an early gestation and finally showed coexisting true hermaphroditism of 46,XX/46,XY mosaicism and partial hydatidiform mole, developing metastatic gestational trophoblastic tumors in the lungs of the mother. A 23-year-old Japanese female had a mole coexistent with a fetus and showed a high chorionic gonadotropin titer in urine and serum at 10 weeks of gestation. The fetus was interrupted for gestational toxicosis and genital bleeding at 20 weeks of gestation. A chromosome analysis demonstrated 46,XX and 46,XY mosaicism in both umbilical cord blood and mole samples. Intrapelvic organs contained a testis in the one gonad, and an ovotestis in the other gonad microscopically. The testis had seminiferous tubules containing primitive germ cells, immature Sertoli cells, and cytomegalic Leydig cells. The ovary in the ovotestis had numerous primitive germ cells and a few stromal cells. Cortical cytomegaly and medullary neuroblastoma in situ were seen in the adrenals. The placenta showed focal villous hydrops and focal trophoblast hyperplasia. The patient presented multiple metastatic pulmonary tumors at 1 month after the interruption, and was treated with chemotherapy for the clinical diagnosis of gestational trophoblastic tumor metastases. She responded well and is alive without any symptoms.
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PMID:Coexisting true hermaphroditism and partial hydatidiform mole developing metastatic gestational trophoblastic tumors. A case report. 1244 83