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FRACS > Syndromes > Flashcards

Syndromes Flashcards

1
Q

VACTERL

A

Vertebral abnormalities
Anal atresia
Cardiac defects –
Tracheo-oEsophageal fistula
Renal defects
Limb abnormalities – hypoplasia, absent defects

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2
Q

Li Fraumeni syndrome

A

Autosomal dominant TP53 mutation on chromosome 17 (same chromosome as NF-1)

•P53 delays cell cycle progression if DNA damage detected – tumour suppressor gene

Associated tumours – “SBLA”

  • Sarcoma
  • Breast
  • Leukaemia
  • Adrenal gland -
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3
Q

Fanconia Anaemia

A

FA pathway involved in DNA repair

AR mutation in one of 13 genes (FANCA to FANCQ)

Features:

  • Congenital malformations – VACTERL
  • Pancytopaenia/bone marrow failure
  • MDS/Leukaemia
  • SCC – head, neck, oesophagus, anal, urogenital
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4
Q

BRCA2

A

Autosomal dominant
Chromosome 13
Gene to repair DNA damage
Associated tumours
Breast 69%
Ovarian 17%
Melanoma
Prostate
Gynae (uterine, fallopian tube, endometrial)
Primary peritoneal

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5
Q

VHL

A

Autosomal dominant
vHL = Tumour suppressor gene on chromosome 3 – codes for VEGF
Tumours “BRAP!”:
Brain – haemangioblastomas
Renal – clear cell, AMLs
Adrenal– phaeo, paraganglioma
Pancreas – NETs, serous cystadenoma

Generally all vascular tumours

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6
Q

Carney triad

A

Sporadic – hypermethylation of SDHC promotor

Features

  • GISTs
  • Paragangliomas
  • Pulmonary chondromas
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7
Q

Phaeochromocytoma - Paraganglioma syndrome

A

•SDH mutation (bit like Carney dyad/triad)

Tumours:

  • Phaeos
  • Paragangliomas
  • Non-medullary thyroid ca (cf MEN2)
  • Renal cell cancer
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8
Q

Lynch

A

Germline mutation in mismatch repair genes – MLH-1, MSH-2, MSH-6, PMS-1

Associated tumours:

  • Colon – right-sided, mucinous/poorly differentiated
  • Ovary
  • Endometrial
  • Urinary tract
  • Small bowel
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9
Q

Gorlin syndrome

A

Autosomal dominant

•Mutation in PTCH1 gene on chromosome 9

Features

  • Multiple BCCs
  • Jaw odontogenic cysts
  • Cleft lip/palate
  • Medulloblastomas
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10
Q

BRCA1

A

Chromosome 17
Autosomal dominant
Helps repair damaged DNA
Associated tumours
Breast >70%
Ovarian >40%

Small increased risk in pancreas and prostate

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11
Q

Neurofibromatosis Type 2

A
  • NF-2 gene on Chromosome 22
  • Produces merlin – tumour suppressor
  • Features
  • Central nerve tumours
  • Meningiomas
  • Vestibular schwannomas
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12
Q

Carney Dyad

A

Germline mutation in SDH (cf Carney triad)

  • Autosomal dominant
  • Associated tumours
  • GIST
  • Paragangliomas
  • Lack mutations in PDGFRa or KIT
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13
Q

Familial Diffuse Gastric Cancer

A
  • CDH1 mutation (codes for E-cadherin – like lobular breast ca)
  • Autosomal dominant
  • Associated tumours
  • Diffuse gastric cancer
  • Lobular breast ca

•

•Recommend prophylactic gastrectomy in 20s-30s if gene mutation identified

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14
Q

Carney Complex

A

A rare Multiple endocrine neoplasia syndrome

•Mutation in PRKAR1A gene

cf Dyad, Triad

Characterised by (LAMB)

  • Lentinginous (pigmented) skin lesions
  • Atrial myxoma
  • Blue naevi
  • Adrenocortical disease
  • Sertoli cell tumours
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15
Q

MEN2A

A

aka Sipple syndrome

Autosomal dominant RET mutation on chromosome 10

Features:

  • Medullary thyroid cancer - all
  • Adrenal tumours, usually phaeos - 50%
  • Parathyroid hyperplasia - 20%

Phenotypes

  • Classic MEN2a
  • MEN2a + cutaneous lichen amyloidosis
  • MEN2a + Hirschsprung’s disease
  • Familial medullary thyroid ca
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16
Q

Dysplastic Naevus syndrome (Familial mole and melanoma syndrome)

A

Autosomal dominant mutation in CDKN2A

Diagnostic criteria:

  • Relative with malignant melanoma
  • >50 naevi, some of which are atypical
  • Dysplastic naevi on histology

Risk of melanoma and also pancreatic ca

17
Q

Peutz Jegher syndrome

A
  • Autosomal dominant
  • Mutation in STK11 on chromosome 19
  • Features:
  • Multiple hamartomatous GI polyps
  • Mucosal pigmentation
  • Associated tumours
  • Any GIT
  • Breast
  • Ovary
  • Cervix
  • Testicular
18
Q

MEN1

A

Autosomal dominant mutation in MENIN gene on chromosome 11 (all 1s)

Associated tumours (“PPP”):

  • Parathyroid hyperplasia >90%
  • Pancreatic neuroendocrine tumours - 60-80%, often multi centric
  • Most commonly gastrinomas -> Zollinger Ellison syndrome
  • Pituitary adenomas - 15-40%, usually prolactinomas (also “P”!)
  • Others – thymic carcinoids, adrenal adenomas, angiofibromas and collagenomas of skin
19
Q

MEN 2B

A

Different (and specific) mutation in RET – MK2 domain

Like MEN2a but no parathyroid hyperplasia, instead, cutaneous features

Features:

  • Medullary thyroid cancer (much earlier than 2a – ”B” = bad)
  • Adrenal – phaeos
  • Cutaneous – mucosal neuromas
  • Marfinoid habitus
  • Intestinal ganglioneuromas and megacolon
20
Q

Familial Adenomatous Polyposis

A

Autosomal dominant - Chromosome 5 mutation in APC gene

Phenotypes: classic, attenuated, Gardner/extraintestinal

•Numerous colonic polyps, CRC risk = 100% by age 40

Other manifestations:

  • Duodenal polyps – spigelman score – and duodenal cancers
  • Gastric polyps – usually fundal
  • Desmoids
  • Hepatoblastoma
  • Medulloblastoma
  • CHRPE
  • Sebaceous cysts
  • Thyroid ca (papillary)
21
Q

Muir-Torre syndrome

A
  • Usually MSH-2 germline mutation
  • Autosomal dominant
  • Kind of variant of Lynch

Associated tumours

  • Lynch-type colon cancers
  • Keratoacanthomas
  • Sebaceous adenomas and skin cancers
22
Q

Neurofibromatosis Type 1

A

Mutation in NF-1 gene on chromosome 17
Autosomal dominant

Features:

  • Café au lait spots
  • Cutaneous neurofibromas
  • Lisch nodules (on iris)
  • Optic pathway gliomas
  • Other gliomas
  • Long bone dysplasia and pseudoarthrosis

Cancer associations

  • Sarcoma, inc MPNST, rhabdomyo-,
  • GIST

-Glomus tumours

23
Q

Cowden syndrome

A

PTEN mutation on chromosome 10q

Features:

  • Multiple hamartomas
  • Cutaneous – trichilemommas, oral fibromas, palmar keratoses

Associated tumours

  • Breast
  • Endometrial
  • Kidney
  • Colorectal
  • Thyroid
24
Q

Castleman disease

A

Three distinct disorders based on the number of regions of enlarged lymph nodes with characteristic histopathologic features and the presence/absence of human herpesvirus 8 (HHV-8, also called Kaposi sarcoma associated herpesvirus [KSHV]) infection

  • Unicentric
  • Multicentric
  • HHV-8 associated

The characteristic histopathologic features of lymph nodes from patients with Castleman disease (CD) are believed to either be exaggerations of the types of reactive changes that can be seen in response to normal antigenic stimuli or representative of a low-grade neoplastic process. These features include atrophic and hyperplastic germinal centers, follicular dendritic cell (FDC) prominence, the accumulation of immunoblasts and plasma cells, and increased vascularity.

25
Q

Riley-Banayan-Ruvalcaba syndrome

A

PTEN mutation (cf Cowden syndrome)

Features

  • hamartomas
  • multiple subcutaneous lipomas
  • macrocephaly
  • penile lentigines

FRACS (14 decks)

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