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 (...)

• Maffucci syndrome
  19 June 2003

  Maffucci, Maffucci disease, hemangiomatosis osteolytica
  Definition: Maffucci syndrome consists of multiple cutaneous hemangiomas, dyschondroplasia, and enchondromas with potential for malignant change. It is a subtype of enchondromatosis (Ollier disease) (MIM.166000) associating hemangiomas. As multiple enchondromatosis, Maffucci disease is caused by mutation in the PTH/PTHRP type I receptor (PTHR1) (MIM.168468).
  Images
  spindle cell hamngioma in Maffucci syndrome (...)

• HNPCC
  29 September 2003

  hereditary nonpolyposis colorectal cancer, Lynch syndrome

• 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 (...)

• 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. (...)

• XPV
  22 July 2010

  Xeroderma pigmentosum variant (XPV)

• von Hippel-Lindau disease
  20 November 2003

  von Hippel-Lindau syndrome, VHL

• Fanconi disease
  29 September 2003

  Fanconi anemia, Fanconi syndrome

• tuberous sclerosis
  15 December 2003

  Tuberous sclerosis complex (TSC), Bourneville tuberous sclerosis

• hereditary leiomyomatosis and renal cell cancer syndrome
  24 September 2003

  HLRCC syndrome; FH-associated RCC; FH-deficient RCC; Reed syndrome
  Definition: Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant disorder characterized by smooth-muscle tumors of the skin and uterus and/or renal cell carcinoma. The mutation of this condition has been identified in the fumarate hydratase (FH, 1q42.3-q43) gene.
  Mutations in the fumarate hydratase (FH) gene underlie HLRCC, a rare syndrome involving cutaneous and uterine leiomyomata and (...)

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