Multifocal ganglioneuroblastoma coexistent with total colonic aganglionosis

Michna, Barbara A.; McWilliams, Nancy B.; Krummel, Thomas M.; Hartenberg, M. A.; Salzberg, A.M.

doi:10.1016/s0022-3468(88)80541-4

Cited by 33 publications

(5 citation statements)

References 5 publications

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“…Although it could have arisen by chance alone, it is interesting to note that the FDS gene ( IKBKAP ) maps to 9q31 where a susceptibility locus for HSCR has been identified (see below). Other occasional associations reported so far include cleft lip with or without cleft palate, neural crest derived tumours (neuroblastoma, ganglioneuroblastoma),75 76 neural tube defects (myelomeningocele),77 and neurofibromatosis type 1 78. The significance of these associations is not yet established.…”

Section: Syndromes and Associated Anomaliesmentioning

confidence: 99%

Hirschsprung disease, associated syndromes, and genetics: a review

Amiel

2001

Journal of Medical Genetics

589

649

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Hirschsprung disease (HSCR, aganglionic megacolon) is the main genetic cause of functional intestinal obstruction with an incidence of 1/5000 live births. This developmental disorder is a neurocristopathy and is characterised by the absence of the enteric ganglia along a variable length of the intestine. In the last decades, the development of surgical approaches has dramatically decreased mortality and morbidity, which has allowed the emergence of familial cases. HSCR appeared to be a multifactorial malformation with low, sex dependent penetrance and variable expression according to the length of the aganglionic segment, suggesting the involvement of one or more gene(s) with low penetrance. So far, eight genes have been found to be involved in HSCR. This frequent congenital malformation now stands as a model for genetic disorders with complex patterns of inheritance. (J Med Genet 2001;38:729-739)

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Section: Syndromes and Associated Anomaliesmentioning

confidence: 99%

Hirschsprung disease, associated syndromes, and genetics: a review

Amiel

2001

Journal of Medical Genetics

589

649

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“…Neurocristopathies represent a number of clinical phenotypes, which include a variety of tumours of neural crest origin (neuroblastoma (NB) [121], ganglioneuroma/ ganglioneuroblastoma [122,123] and retinoblastoma [124,125]) resulting from oncogene up-regulation and tumour suppressor gene inactivation. It is not surprising that the familial predisposition to tumours in HSCR includes medullary carcinoma of the thyroid [126], phaeochromocytoma [127] and other tumours related to the MEN2 phenotype and the RET proto-oncogene.…”

Section: Hscr Associations With Tumoursmentioning

confidence: 99%

The contribution of associated congenital anomalies in understanding Hirschsprung’s disease

Moore

2006

Ped Surgery Int

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Hirschsprung's disease (HSCR) is a complex congenital disorder which, from a molecular perspective, appears to result due to disruption of normal signalling during development of enteric nerve cells, resulting in aganglionosis of the distal bowel. Associated congenital anomalies occur in at least 5-32% (mean 21%) of patients and certain syndromic phenotypes have been linked to distinct genetic sites, indicating underlying genetic associations of the disease and probable gene-gene interaction in its pathogenesis. Clear-cut associations with HSCR include Down's syndrome, dominant sensorineural deafness, Waardenburg syndrome, neurofibromatosis, neuroblastoma, phaeochromocytoma, the MEN type IIB syndrome and other abnormalities. Individual anomalies vary from 2.97% to 8%, the most frequent being the gastrointestinal tract (GIT) (8.05%), the central nervous system (CNS) and sensorineural anomalies (6.79%) and the genito-urinary tract (6.05%). Other associated systems include the musculoskeletal (5.12%), cardiovascular systems (4.99%), craniofacial and eye abnormalities (3%) and less frequently the skin and integumentary system (ectodermal dysplasia) and syndromes related to cholesterol and fat metabolism. In addition to associations with neuroblastoma and tumours related to MEN2B, HSCR may also be associated with tumours of neural origin such as ganglioneuroma, ganglioneuroblastoma, retinoblastoma and tumours associated with neurofibromatosis and other autonomic nervous system disturbances. The contribution of the major susceptibility genes on chromosome 10 (RET) and chromosome 13 (EDNRB) is well established in the phenotypic expression of HSCR. Whereas major RET mutations may result in HSCR by haploinsufficiency in 20-25% of cases, the etiology of the majority of sporadic HSCR is not as clear, appearing to arise from the combined cumulative effects of susceptibility loci at critical genes controlling the mechanisms of cell proliferation, differentiation and maturation. In addition, potential "modifying" associations exist with chromosome 2, 9, 20, 21 and 22, and we explore the importance of certain flanking genes of critical areas in the final phenotypic expression of HSCR.

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“…Cystic changes have high signal intensity on T2-weighted images. MR imaging has been found to be more sensitive than CT in the diagnosis of these tumors owing to its higher soft-tissue contrast resolution and multiplanar capabilities that allow excellent detection of the tumor origin (33)(34)(35)(36)(37).…”

Section: Neuroblastomamentioning

confidence: 99%

Adrenal Masses: MR Imaging Features with Pathologic Correlation

Elsayes¹,

Mukundan²,

Narra³

et al. 2004

RadioGraphics

225

116

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The detection of adrenal lesions has increased with the expanding use of cross-sectional imaging. Magnetic resonance (MR) imaging is often useful for characterizing adrenal masses. Adrenal masses can be classified into various groups on the basis of the presence of intracellular lipid, macroscopic fat, hemorrhage, and cystic changes and the vascularity and shape of the tumor. These imaging features can be used by the radiologist to suggest or confirm a diagnosis for most adrenal masses, including adenoma, hyperplasia, simple and complicated cysts, lymphangioma, myelolipoma, pheochromocytoma, hemorrhage, cortical carcinoma, neuroblastoma, lymphoma, and metastases. Adenomas and metastases are common, and a decrease in signal intensity on out-of-phase images can be used to differentiate between them. Carcinoma is a possible diagnosis if that decrease in signal intensity is heterogeneous. Benign disease is diagnosed if macroscopic fat or a homogeneous cystlike lesion is seen. Recognition of the typical MR imaging features is important because it often changes the treatment approach and may obviate surgery.

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Multifocal ganglioneuroblastoma coexistent with total colonic aganglionosis

Cited by 33 publications

References 5 publications

Hirschsprung disease, associated syndromes, and genetics: a review

Hirschsprung disease, associated syndromes, and genetics: a review

The contribution of associated congenital anomalies in understanding Hirschsprung’s disease

Adrenal Masses: MR Imaging Features with Pathologic Correlation

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