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 (...)

• MUTYH-associated polyposis
  5 June 2009

  MAP; MYH-associated polyposis
  Definition: MUTYH-associated polyposis (MAP) is a recessively inherited disorder which predisposes biallelic carriers for a high risk of polyposis and colorectal carcinoma (MAP-CRC).
  This recently recognized type of adenomatous polyposis was first documented in a Welsh kindred in which three siblings had multiple colorectal adenomas and carcinomas but lacked a germline APC mutation.
  MUTYH-associated polyposis (MAP) may be difficult to distinguish from (...)

• von Hippel-Lindau disease
  20 November 2003

  von Hippel-Lindau syndrome, VHL

• 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 (...)

• tuberous sclerosis
  15 December 2003

  Tuberous sclerosis complex (TSC), Bourneville tuberous sclerosis

• dyskeratosis congenita
  18 November 2003

  congenital dyskeratosis, Zinsser-Engman-Cole syndrome
  Definition: Dyskeratosis congenita (DC) is a rare inherited syndrome characterized by the triad of abnormal skin pigmentation, nail dystrophy, mucosal leucoplakia and bone marrow failure syndrome.
  Synopsis
  aplastic anemia
  bone marrow hypoplasia with bone marrow failure and pancytopenia (40%)
  bone marrow failure syndrome
  anemia
  leucopenia
  thrombopenia
  erythrokeratodermia variablis
  chronic keratoconjunctivitis
  nail (...)

• Perlman syndrome
  31 May 2005

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

• Rothmund-Thomson syndrome
  28 October 2003

  poikiloderma atrophicans and cataract

• Fanconi disease
  29 September 2003

  Fanconi anemia, Fanconi syndrome

• 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. (...)

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