Tumoral predisposition

Articles

• Cowden disease
  2 November 2004

  multiple hamartoma syndrome, Cowden syndrome; PTEN hamartoma tumor syndrome (PHTS).
  Definition: Cowden syndrome is a rare autosomal dominant condition named after the Cowden family in which it was initially documented.
  Images
  Digestive hamartomas with neural and fatty elements, lymphoid aggs
  https://twitter.com/CArnold_GI/status/830854075944144898
  Manifestations of the syndrome include gastrointestinal, oral and cutaneous hamartomas, tumors of breast and thyroid, autoimmune (...)

• tuberous sclerosis
  15 December 2003

  Tuberous sclerosis complex (TSC), Bourneville tuberous sclerosis

• Gardner syndrome
  9 August 2004

  Images
  focal matrical focus in epidermoid cyst : a clue to Gardner’s syndrome
  https://twitter.com/BenjaminAwood/status/817171629843316736
  https://www.ncbi.nlm.nih.gov/pubmed/27914683
  Synopsis
  digestive tumors predisposition
  numerous adenomatous colonic polyps (colonic adenomas)
  gastric fundic gland polyposis
  duodenal ampulloma
  adenoma of the common human bile duct (#9250908#)
  jejunal myoepithelial hamartoma
  minor dental abnormalities
  caniofacial osteomas
  mandibular (...)

• Denys-Drash syndrome
  11 February 2004

  Ent. 1967
  Synospsis
  diffuse mesangial sclerosis (DMS)
  male sex reversal (male pseudohermaphrosim)
  Etiology
  constitutional punctual mutations in the WT1 gene (zing-fingers)
  References
  Management of Wilms tumors in Drash and Frasier syndromes. Auber F, Jeanpierre C, Denamur E, Jaubert F, Schleiermacher G, Patte C, Cabrol S, Leverger G, Nihoul-Fékété C, Sarnacki S. Pediatr Blood Cancer. 2009 Jan;52(1):55-9. PMID: #18816692#
  Case report: WT1 exon 6 truncation mutation and ambiguous (...)

• XPV
  22 July 2010

  Xeroderma pigmentosum variant (XPV)

• Wilms tumor-neuroblastoma familial association
  27 January 2010

  Wilms tumor and neuroblastoma are childhood tumors of the kidney and undifferentiated neural crest cells, respectively. Both disorders are primarily sporadic, but familial Wilms tumor pedigrees and familial neuroblastoma pedigrees are each well recognized and account for approximately 1-3% of each tumor type.
  Families with both Wilms tumor and neuroblastoma represent a previously unrecognized familial cancer syndrome in which the underlying predisposition gene(s) remain to be determined. (...)

• Rothmund-Thomson syndrome
  28 October 2003

  poikiloderma atrophicans and cataract

• von Hippel-Lindau disease
  20 November 2003

  von Hippel-Lindau syndrome, VHL

• Perlman syndrome
  31 May 2005

  association renal hamartoma, nephroblastomatosis and fetal gigantism. Ent. Nom. 1973.

• renal oncocytosis
  21 February 2005

  renal oncocytomatosis
  Definition: Renal oncocytosis is a rare disorder in which numerous oncocytic nodules develop in the kidney. Renal oncocytosis is a precursor lesion of renal oncocytoma and chromophobe renal cell carcinoma.
  The renal cell neoplasms of oncocytosis seem to have distinct morphologic, immunohistochemical, and cytogenetic profiles and likely are a distinct entity, not closely related to oncocytoma or chromophobe renal cell carcinoma. (#20305535#)
  References
  Renal (...)

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