A familial instance of appendiceal carcinoid

Anderson, Raymond E.

doi:10.1016/0002-9610(66)90053-5

Cited by 25 publications

(13 citation statements)

References 12 publications

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“…Case reports described ileal and rectal NETs in firstdegree relatives without any evidence of a known inherited disease [2,56,60,64]. These observations were also confirmed in a large study including 245 patients with intestinal NETs in which 3.7% of patients had at least one first-degree relative with the same malignancy [7].…”

Section: Gep-nets With Suspected Hereditary Backgroundmentioning

confidence: 79%

Hereditary neuroendocrine tumors of the gastroenteropancreatic system

et al. 2007

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Approximately 5-10% of neuroendocrine tumors (NETs) of the gastroenteropancreatic system (GEP) have a hereditary background. The known inherited syndromes include multiple endocrine neoplasia type 1, neurofibromatosis type 1, von Hippel-Lindau disease, and the tuberous sclerosis complex. This review discusses for each of these syndromes the: (1) involved genes and specific types of mutations, (2) disease prevalence and penetrance, (3) affected neuroendocrine tissues and related clinical syndromes, (4) special morphological features of NETs and their putative precursor lesions. In addition, GEP-NETs clustering in individual families or associated with other malignancies without known genetic background are discussed.

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Section: Gep-nets With Suspected Hereditary Backgroundmentioning

confidence: 79%

Hereditary neuroendocrine tumors of the gastroenteropancreatic system

et al. 2007

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“…sporadic) tumours. However, they may sometimes occur as part of familial syndromes such as multiple endocrine neoplasia type 1 (MEN1) (Oberg 1998) and neurofibromatosis type 1 (NF1) (Griffiths et al 1987), although the occurrence of familial isolated midgut carcinoids is rare and has been reported only five times (Eschbach & Rivaldo 1962, Anderson 1966, Kinova et al 2001, Oliveira et al 2001, Pal et al 2001. The familial occurrence of NETs is consistent with a genetic aetiology for NETs.…”

Section: Introductionmentioning

confidence: 95%

Genetics of neuroendocrine and carcinoid tumours.

Leotlela

Jauch²,

Holtgreve-Grez³

et al. 2003

Endocrine-Related Cancer

150

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Neuroendocrine tumours (NETs) originate in tissues that contain cells derived from the embryonic neural crest, neuroectoderm and endoderm. Thus, NETs occur at many sites in the body, although the majority occur within the gastro-entero-pancreatic axis and can be subdivided into those of foregut, midgut and hindgut origin. Amongst these, only those of midgut origin are generally argentaffin positive and secrete serotonin, and hence only these should be referred to as carcinoid tumours. NETs may occur as part of complex familial endocrine cancer syndromes, such as multiple endocrine neoplasia type 1 (MEN1), although the majority occur as non-familial (i.e. sporadic) isolated tumours. Molecular genetic studies have revealed that the development of NETs may involve different genes, each of which may be associated with several different abnormalities that include point mutations, gene deletions, DNA methylation, chromosomal losses and chromosomal gains. Indeed, the foregut, midgut and hindgut NETs develop via different molecular pathways. For example, foregut NETs have frequent deletions and mutations of the MEN1 gene, whereas midgut NETs have losses of chromosome 18, 11q and 16q and hindgut NETs express transforming growth factor-α and the epidermal growth factor receptor. Furthermore, in lung NETs, a loss of chromosome 3p is the most frequent change and p53 mutations and chromosomal loss of 5q21 are associated with more aggressive tumours and poor survival. In addition, methylation frequencies of retinoic acid receptor-β, E-cadherin and RAS-associated domain family genes increase with the severity of lung NETs. Thus the development and progression of NETs is associated with specific genetic abnormalities that indicate the likely involvement of different molecular pathways.

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“…[2] According to our literature search, 3 other familial cases of primary appendiceal tumours exist in the current published literature, with only a single case report of appendiceal adenocarcinoma in two first-degree relatives. [2,5,6] Inheritance patterns explaining the familial recurrence of these uncommon cancers have not previously been identified, although some authors suggest that familial predisposition may be possible. [2] Classification and diagnosis of appendiceal mucinous tumours has been controversial for several decades and the molecular basis of mucinous tumours remains unclear.…”

Section: Discussionmentioning

confidence: 99%

Familial appendiceal tumours in Diffuse Peritoneal Adenomucinosis and peritoneal mucinous carcinomatosis: A rare familial predisposition?

Davies

Doyle

Tran

et al. 2016

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Epithelial neoplasms of the appendix are rare. They account for an annual age adjusted incidence of 4 cases per 1,000,000. The low incidence of primary appendix tumours means that there are very few published reports of the familial occurrence. This case series reports two cases of primary appendiceal epithelial tumours in two sets of relatives. A genetic evaluation was performed to determine if there was any underlying single gene disorder, which could account for the familial occurrence. The results showed there was no DNA mismatch repair defect evident. This means that the occurrence of appendiceal cancer in siblings may represent a random event. However, exceedingly rare predisposition syndrome cannot be ruled out from our analysis.

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A familial instance of appendiceal carcinoid

Cited by 25 publications

References 12 publications

Hereditary neuroendocrine tumors of the gastroenteropancreatic system

Hereditary neuroendocrine tumors of the gastroenteropancreatic system

Genetics of neuroendocrine and carcinoid tumours.

Familial appendiceal tumours in Diffuse Peritoneal Adenomucinosis and peritoneal mucinous carcinomatosis: A rare familial predisposition?

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