Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027819 (neuroblastoma)
 27,800 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Maternal serum alpha-fetoprotein (MS-AFP) screening has become part of routine obstetric care. Although elevated MS-AFP was originally associated with neural tube defects (NTD), it is also able to detect several fetal anomalies of interest to a pediatric surgeon, ie, ventral abdominal wall defects, intestinal atresias, and sacrococcygeal teratomas. Previously, decreased MS-AFP had only been associated with fetal trisomies, but not surgically correctable lesions. In the present study, we review our recent experience with both elevated and decreased MS-AFP as a marker to detect fetal anomalies of concern to the pediatric surgeon. Forty-one fetal anomalies were associated with 333 pregnancies referred for follow-up after abnormal MS-AFP screening results from November 1985 through November 1986. One hundred ninety-six were elevated and 139 were decreased. In most cases, evaluation included counseling, repeat MS-AFP, level II ultrasound, and amniocentesis. This revealed elevated MS-AFP to be associated with 32 (16.3%) anomalies (2 NTD, 5 anencephalics, 5 ventral abdominal wall defects, 1 stage IV-S neuroblastoma, 1 renal anomaly, 1 ventriculomegaly, 15 fetal demises, and 2 fetal-maternal bleeds). Decrease in MS-AFP was associated with nine (6.4%) anomalies (2 congenital diaphragmatic hernias, 3 Down's syndrome, 1 Turner's syndrome, 2 duodenal atresias, and 1 choroid plexus cyst). In this study, MS-AFP detected several fetal anomalies known to be associated with abnormal MS-AFP and three anomalies not previously described (congenital diaphragmatic hernia, neuroblastoma, and choroid plexus cyst). Elevated as well as decreased MS-AFP are significant and should be pursued by a full prenatal evaluation.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Maternal serum alpha-fetoprotein is a marker for fetal anomalies in pediatric surgery. 245 Sep 87

A 20-month-old infant with Turner syndrome presented with opsoclonus-myoclonus and tonic pupils in association with an abdominal neuroblastoma. Despite complete removal of the tumor, the child developed progressive hearing loss, areflexia, and seizures. Immunohistochemical and Western blot studies of serum and cerebrospinal fluid revealed the presence of anti-Hu antineuronal antibody, which cross-reacted with areas of the patient's tumor. Treatment with intravenous immunoglobulin coincided with the resolution of opsoclonus-myoclonus and the cessation of new neurologic symptoms. This case provides direct support for the autoimmune basis of paraneoplastic symptoms associated with neuroblastoma and suggests that treatment with intravenous immunoglobulin may be of value.
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PMID:Anti-Hu antibody in a neuroblastoma-associated paraneoplastic syndrome. 806 57

Anomalies of constitutional karyotype, which have led to the discovery of oncogenes and tumor-suppressor genes in embryonal tumors such as retinoblastoma and Wilms tumor, have, until recently, rarely been reported until recently in neuroblastoma. We present four new cases of neuroblastoma associated with (a) a mosaicism for monosomy 22; (b) an 11q interstitial deletion; (c) a pericentric inversion of chromosome 9 at band 9p21; and (d) a Robertsonian translocation t(13;14). These anomalies and 47 others in the literature are worthy of interest, because some are recurrent, involving the same chromosome regions (1p36, 2p23, 3q, 11q23, and 15q), and some anomalies are situated on chromosome regions known to contain genes involved in neuroblastoma development (1p, 2p, 9p, 11q, 16q, and 17q). Chromosome regions 3q and 15q, observed several times, may also contain genes significant for neuroblastoma onset or development. Furthermore, the lack of neuroblastoma in patients with Down syndrome and Klinefelter or triple-X syndromes, together with a probable excess of neuroblastoma in patients with Turner syndrome, suggests that genes of importance for neuroblastoma may map to chromosomes X and 21. A search for genes implicated in neuroblastoma biology should use these data.
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PMID:Abnormal constitutional karyotypes in patients with neuroblastoma: a report of four new cases and review of 47 others in the literature. 1462 57

A 15-year-old girl with Turner syndrome was unexpectedly found to have a left suprarenal mass. Extensive investigations showed a clinically and biochemically inapparent mass. Computed tomography disclosed a well-defined solid lesion in the left adrenal measuring 6.5 x 5 cm with minimal contrast enhancement. Laparoscopic adrenalectomy was done. Histologic examination revealed an encapsulated mass originated from the left adrenal medulla. Tumor tissue comprised abundant collagen fibers and spindloid cells admixed with mature ganglion cells. The tumor was diagnosed as left adrenal ganglioneuroma. According to literature, we report the eighth case of ganglioneuroma complicating Turner syndrome. Patients with this syndrome are predisposed to the development of neuroblastoma and related tumors. Reasons for this predisposition might relate to genetic and hormonal factors. Given that these tumors are often limited stage and of good prognosis, we recommend their screening in all patients with Turner syndrome.
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PMID:Ganglioneuroma of adrenal gland in a patient with Turner syndrome. 2022 19