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100 Syndromes to know!! > Oncologic disorders > Flashcards

Oncologic disorders Flashcards

1
Q

What is the overall contribution of BRCA1 and BRCA2 to overall breast cancer (%)

A
  • 2%
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2
Q

The BRCA2 protien is invloved in DNA repair and biallelic mutations in the BRCA2 cause ______ anaemia

A

Fanconi

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3
Q

When should woman with BRCA1/2 mutations consider prophylactic salpingo-oophorectomy?

A
  • once family planning is completed
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4
Q

Prophylactic mastectomy has an efficacy of at least ___% in women classified as high risk on the basis of a family history of BRCA breast cancer

A
  • 90%
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5
Q

According to NCCN guidlines at what age should a woman with a BRCA mutation start to consider annual breast MRI with contrast and mammograms

A
  • ages 30-75
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6
Q

What are the NCCN guidlines concerning males with BRCA 1/2 mutations, breast cancer and prostate cancer

A
  • Self and clinical breast exams starting at age 35
  • Prostate cancer screening starting at 45 for BRCA2, can consider in BRCA1
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7
Q

Autosomal dominant syndrome consisteing of characteristic GI harmatomas, mucocutaneous pigmentation (frekling of lips and perioral regions) and predisposition to GI and breast cancers

A
  • Peutz-Jeghers syndrome (PJS)
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8
Q

Autosomal dominant syndrome caused by the LKB1 (STK11) mutations: serine/threonin kinase on 19p13.3

A
  • Peutz-Jeghers syndrome
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9
Q

Women with Peutz-Jeghers syndrome and STK11 have a high risk for what female cancers

A
  • Breast (32-54% risk)
  • Endometrial (9%)
  • Ovarian (21%)
  • Cervical (10%)

** Colorectal cancer risk (39%)

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10
Q

Examination to regonize feminizing features in males, as a sign of whattype of cancer in STK11 positive patients

A
  • Testicular cancer
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11
Q

These surveillance modalities are recommended by the age of 8 in STK11 positive PJS patients

A
  • Small bowel CT,MRI or endoscopy
  • Upper encoscropy
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12
Q
  • Autosomal dominant disorder
  • Germline mutations in TP53, CHEK2
A
  • Li-Fraumeni syndrome
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13
Q

Protein product of CHEK2

A

Serine/threonine protien kinase

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14
Q

Diagnostic criteria for Li-Fraumeni

A
  • Proband with sarcoma <45
  • 1st degree relative <45
  • and 1st or 2nd degree relative <45
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15
Q

Disease mechanism for Li-Fraumeni

A
  • Abnormal DNA repair
  • P53: determines whether cells undergo arrest for DNA repair or apoptosis
  • CHEK2: checkpoint gene that is activated in response to DNA damage
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16
Q

BRCA1 variant associated with 20-30% of Jewish women with early breast cancer

A
  • 185delAG
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17
Q

BRCA2 variant associated with 45-60% of Jewish women with ovarian cancer

A
  • 6174delT
18
Q

Autosomal dominant familial cancer syndrome associated with APC gene.

A
  • Familial Adenomatous Polyposis
19
Q

Which of these protiens associated with Lynch Syndrome (Hereditary nonpolyposis colon cancer) is NOT a DNA mismatch repair protein?

  • MLH1
  • MSH2
  • MSH6
  • PMS1
A
  • PMS1
  • protein homolog 2
20
Q

What is the 3,2,1 rule and what hereditary cancer syndrome is it used to predict?

A
  • Identify individuals who are likely to be mutations carriers for Lynch syndrome
  • Amsterdam II criteria
  • 3 affected individuals (at least 1 st degree)
  • 2 successuve generations
  • 1 or more HNPCC related cancers <50yrs
21
Q

What is the most common extracolonic neoplasm associated with Lynch syndrome (HNPCC)

A
  • Endometrial cancer
22
Q

Lynch syndrome tumours demonstarate microsatelite instability (MSI) secondary to defects in _____ genes

A
  • Missmatch repair genes
23
Q

What percentage of markers must show expansion or contractionof repetative sequences in a tumour compared to normal, in order to be considered to have (high) microsattalite instability

A
  • 30%
24
Q

Clinical diagnosis of MEN1?

A
  • 2 or more MEN1 associated tumours or tumor in 1st degreee relative with MEN1
    • Parathyroid
    • Anterior pituitary
    • Enteropancreatic
25
Q

Responsible gene for MEN2?

A
  • RET
26
Q

Clinical diagnosis of MEN2A?

A
  • 2 or more
    • Medullary thyroid cancer
    • Primary hyperparathyroidism
    • Pheochromocytoma
27
Q

Clinical diagnosis of MEN2B

A
  • Medullary thyroid carcinoma
  • Pheochromocytoma
    • Mucosal neuromas of lips and tounge
    • mylinated coneal fibres
    • Marfanoid habitus
    • Joint laxity
    • intestinal ganglioneuromas
28
Q

RET sequencing identifies the majority of variants in these exons?

A
  • Exon 10 and 11 (95% MEN2A)
  • Exon 16 (95% MEN2B)
29
Q

Tumor syndrome associated with

  • Benign nerve tumors (bilateral aucoustic schwannoma)
    • miningiomas, ependymonas, astrocytomas)
  • Hearing loss, tinnitus, vertigo
  • Cataracts, mononeuropathy
  • Cafe au lait
A
  • Neurofibromatosis Type II
30
Q

Major criteria of the syndrome shown in the pictures

A
  • PTEN Harmatoma tumor syndrome
    • Cowden syndrome
      • Breast Cancer
      • Non-medullary thyroid
      • Macrocephaly
      • Endometrial carcinoma
31
Q

Spot diagnosis of syndrome shown in the picture

A
  • PTEN harmatoma tumor syndrome
    • Bannayan-Riley-Ruvalcaba
      • Macrocephaly
      • harmatomous intestinal polyposis
      • lipomas
      • pigmented macules of the glans penis
32
Q

Plantar collagenoma is pathonomonic for what condition?

A
  • PTEN Hamartoma tumor syndrome
    • Proteus syndrome
    • Rapidly progressive, asymmetric postnatal overgrowth of tissues, with hyperostoses, vascular malformations, dysregulation of fatty tissues (both atrophy and overgrowth), and skin manifestations such as verrucous epidermal nevi or cerebriform connective tissue nevi
    • risk of ovarian or parathyroid tumor in 2nd decade
33
Q

Spot diagnosis of condition shown in the pictures

A
  • Tuberous Sclerosis: TSC1 and TSC2
  • Major features

Angiofibromas (≥3) or fibrous cephalic plaque

Cardiac rhabdomyoma

Cortical dysplasias, including tubers and cerebral white matter migration lines

Hypomelanotic macules (3 to >5 mm in diameter)

Lymphangioleiomyomatosis (LAM) (see *Note)

Multiple retinal nodular hamartomas

Renal angiomyolipoma (see *Note)

Shagreen patch

Subependymal giant cell astrocytoma (SEGA)

Subependymal nodules (SENs)

Ungual fibromas (≥2)

  • Minor features

“Confetti” skin lesions (numerous 1- to 3-mm hypopigmented macules scattered over regions of the body such as the arms and legs)

Dental enamel pits (>3)

Intraoral fibromas (≥2)

Multiple renal cysts

Nonrenal hamartomas

Retinal achromic patch

34
Q

Location of deletion syndrome associated with TSC2 and polycystic kidney disease?

A
  • 16p13.3
  • TSC2 lies immediately adjacent to PKD1 and large heterozygous deletions can result in the TSC2/PKD1 contiguous gene syndrome (PKDTS)
  • Individuals with the TSC2/PKD1 contiguous gene deletion syndrome are also at risk of developing the complications of ADPKD, which include cystic lesions in other organs (e.g., the liver) and Berry aneurysms.
35
Q

Clinical features of Von Hippel-Lindau syndrome

A
  • Retinal angioma
  • Spinal or cerebellar hemangioblastoma
  • Adrenal or extra-adrenal pheochromocytoma (HTN)
  • Renal cell carcinoma
  • Multiple renal and pancreatic cysts
36
Q

The leading cause of mortality in von Hippel-Lindau syndrome

A
  • Renal cell carcinoma
37
Q

Disease mechanism of Xeroderma Pigmentosum

A
  • Impaired ability to sense, excise and repair UV-induced DNA damage
38
Q

Genes associated with Xeroderma Pigmentosum

A
  • XPA
  • XPC
  • ERCC2
  • POLH
39
Q

What are the neurological complication of the shown condition

A
  • Xeroderma Pigmentosum
    • acquired microcephaly
    • dec/absent DTR
    • progressive cognitive impairment
    • SNHL
40
Q

What are the ocular complication of the shown condition

A
  • Xeroderma Pigmentosum
    • Photophobia
    • keratitis
    • atrophy of the eye lids
    • malignancy of the eye (melanoma, squamous cell and epithelioma)

100 Syndromes to know!! (10 decks)

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