Hirschsprungʼs Disease in a Family with Multiple Endocrine Neoplasia Type 2

Verdy, M; Weber, Andrée; Roy, Claude; Morin, Claude; Cadotte, M; Brochu, Pierre

doi:10.1097/00005176-198212000-00027

Cited by 113 publications

(45 citation statements)

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“…in contrast with the pheno typic findings in most HSCR patients with chromosomal anomalies. The developmental defects most frequently associ- HSCR has also been found in association with Waardenburg syndrome (Branski et al, 1979;Ommen and McKusick, 1979;, iris coloboma (Hurst et al" 1988), multiple endocrine neoplasia type 2A (MEN2A) (Verdy et al, 1982), and multiple endocrine neoplasia type 2B (MEN2B) (Mahaffey et al, 1990). All of these disorders, together with HSCR, seem to have a common origin in the anomalous development of neural crest cells.…”

Section: Discussionmentioning

confidence: 99%

Deleted and normal chromosome 10 homologs from a patient with Hirschsprung disease isolated in two cell hybrids through enrichment by immunomagnetic selection

Puliti

Covone

Bicocchi

et al. 1993

Cytogenet Genome Res

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A cytogenetically detectable deletion, del(10) (q11.2→q21.2), was observed in a patient with total colonic aganglionosis with small bowel involvement (TCSA), a variant of Hirschsprung disease (HSCR). A similar deletion is present in another TCSA patient (S.M. Huson, personal communication). To reveal cytogenetically undetectable deletions of chromosome 10 in further patients, we developed a strategy for mapping chromosome 10 DNA markers with respect to the observed deletions. To this end, the two chromosome 10 homologs (deleted and normal) were segregated in two distinct somatic cell hybrids obtained after fusion of the patient’s fibroblasts with a Chinese hamster ovary cell line (YH21). Hybrid cells containing chromosome 10 were selected for the expression of the gene coding for the β subunit of the fibronectin receptor (FNRB), which maps to lOpl 1.2, using a monoclonal antibody against FNRB. Hybrid 185.0 contains the deleted chromosome, whereas hybrid 179.Q contains the nondeleted one. Southern blot and PCR analysis of DNA from these two hybrids mapped the markers RBP3H4, RET, D10S15, D10S5, D10S22, and D10S88 inside the deletion and D10S170, CDC2, EGR2, and D10S19 outside the deletion. MEN2A and MEN2B have recently been mapped within the centromeric region closely linked to RBP3 and D10S15 (which are located inside the deletion) and cosegregate with HSCR in at least two different pedigrees. Since HSCR, MEN2A, and MEN2B represent defects of neural crest cell development, we hypothesize that they originate from mutations in different genes clustered in the centromeric region of 1 Oq.

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Section: Discussionmentioning

confidence: 99%

Deleted and normal chromosome 10 homologs from a patient with Hirschsprung disease isolated in two cell hybrids through enrichment by immunomagnetic selection

Puliti

Covone

Bicocchi

et al. 1993

Cytogenet Genome Res

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“…These two MEN 2 variants have the greatest syndromic consistency (Brandi et al 2001). Other clinical variants have also been described (Table 1; Verdy et al 1982, Farndon et al 1986, Donovan et al 1989, Nunziata et al 1989. As a result of the high penetrance of the MEN 2 phenotype, tumors may present at an earlier age, even under the age of 5 years (Machens et al 2001).…”

Section: Men2 Syndromesmentioning

confidence: 99%

The genetic basis of hereditary medullary thyroid cancer: clinical implications for the surgeon, with a particular emphasis on the role of prophylactic thyroidectomy

Sakorafas¹,

Friess²,

Peros³

2008

Endocrine Related Cancer

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Medullary thyroid cancer (MTC) may occur either sporadically or on a hereditary basis. Hereditary MTC may be observed with either multiple endocrine neoplasia syndromes (MEN 2A and MEN 2B) or as familial MTC (FMTC). Despite the rarity of these syndromes, early diagnosis is especially important, since MTC is a lethal disease if not promptly and appropriately treated. Recently, the development of genetic testing and direct DNA analysis allows the identification of asymptomatic patients. Surgical prophylaxis should be considered in these cases, ideally to prevent the development of MTC. During the recent decade, the concept of 'codon-directed' timing of prophylactic surgery emerged as a reasonable strategy in the management of these patients. Currently, genetic analysis offers the possibility to define genotype-phenotype correlations and to adjust the time of prophylactic surgery. Hereditary MTC is a model of genetically determined cancer in which both diagnostic and therapeutic strategies rely on the identification of specific mutations.Endocrine-Related Cancer (2008) 15 871-884

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“…Indeed, RET gene mutation was found in HSCR patients [8,9]. Furthermore, in a small fraction of kindreds, cosegregation of MEN2/FMTC and HSCR were described [11][12][13][14][15]. Only one individual so far was reported to have a co-ocurrence of unilateral renal agenesis and HSCR with RET gene mutation [22].…”

Section: Case Reportmentioning

confidence: 99%

A MEN2A family with two asymptomatic carriers affected by unilateral renal agenesis

et al. 2014

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Hirschsprungʼs Disease in a Family with Multiple Endocrine Neoplasia Type 2

Cited by 113 publications

References 0 publications

Deleted and normal chromosome 10 homologs from a patient with Hirschsprung disease isolated in two cell hybrids through enrichment by immunomagnetic selection

Deleted and normal chromosome 10 homologs from a patient with Hirschsprung disease isolated in two cell hybrids through enrichment by immunomagnetic selection

The genetic basis of hereditary medullary thyroid cancer: clinical implications for the surgeon, with a particular emphasis on the role of prophylactic thyroidectomy

A MEN2A family with two asymptomatic carriers affected by unilateral renal agenesis

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