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X. MRCS: Pathophysiology > Cancer: markers, syndromes > Flashcards

Cancer: markers, syndromes Flashcards

1
Q

CA 15-3 (cancer antigen)

A

Breast cancer: 75% of metastatic disease
Bowel cancer
Lung cancer
(Cirrhosis, hepatitis, benign breast disease)

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2
Q

CA19-9 (Cancer antigen)

A 
Pancreatic cancer
Bowel cancer
Lung cancer
Gall bladder cancer
(Gallstones, pancreatitis, cystic fibrosis, liver disease)
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3
Q

CEA (carcinoembryonic antigen)

A

Bowel cancer
Lung, Breast, Liver, Pancreas, Stomach, Ovary cancer
(IBD, liver disease)

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4
Q

SMRP (soluble mesothelin-related peptide)

A

Malignant mesothelioma

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5
Q

Thyroglobulin

A

Thyroid cancer: Used to assess completeness of removal of thyroid in throidectomy and recurrence of disease

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6
Q

AFP (alpha-fetoprotein)

A

Hepatocellular carcinoma
Germ-cell tumours (Testicular)
(Cirrhosis, chronic hepatitis)

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7
Q

BCGR (B-cell immunoglobulin gene rearrangement)

A

B-cell lymphoma

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8
Q

BCR-ABL

A

Chronic myeloid leukaemia (CML)

Acute lymphoblastic leukaemia (ALL)

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9
Q

CA-125 (cancer antigen)

A

Ovarian cancer: 80%
Endometrial cancer
Lung, breast, GI cancers
(Pregnancy, menstruation, endometriosis, PID)

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10
Q

Calcitonin

A

Medullary thyroid cancer (and precursor C-cell hyperplasia)

Lung, breast and pancreatic cancer, Insulinomas, leukaemia

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11
Q

CgA (chromogranin A)

A

Carcinoid tumours
Phaeochromocytoma
(Liver disease, IBD, renal disease)

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12
Q

Gastrin

A

Gastrinoma (hyperplasia of gastrin-producing cells)

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13
Q

hCG (human chorionic gonadothropin)

A

Gestational trophoblastic disease
Germ cell tumours (testis/ovaries)
Choriocarcinoma

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14
Q

HER-2 (Human epidermal growth factor receptor-2)

A

Tested on breast tumour cells
25-30% positive
Associated with faster growth
Targeted treatment (e.g. trastuzumab)

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15
Q

Oestrogen and progesterone receptors

A

Assessed on breast cancer tissue

Oestrogen and progesterone positive cancer is likely to respond to anti-hormone treatments (e.g. tamoxifen)

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16
Q

Hereditary non-polyposis colorectal cancer (HNPCC): Lynch Syndrome

A

Gene: MSH2, MLH1, MSH6, PMS2
Autosomal dominant
Colon, endometrial, gastric, small intestine, urothelial

17
Q

BRCA1

Hereditary breast-ovarian cancer syndrome: “King syndrome”

A 
Tumour suppressor gene
Autosomal dominant
Breast cancer: 50-60% (males: 1.2%): triple negative
Ovarian cancer: 40-65%
Prostate: 9%
Pancreas: 1-3%
18
Q

BRCA2

Hereditary breast-ovarian cancer syndrome: “King syndrome”

A 
Tumour suppressor gene
Autosomal dominant
Breast cancer: 40-55% (males: 9%)
Ovarian: 15-25%
Prostate: 15%
Pancreas: 2-7%
19
Q

Neurofibromatosis

A 
Gene: NF1
Autosomal dominant
Cancer: neurofibroma, nerve glioma, neurofibrosarcoma 
8-12% lifetime risk
Non-cancer Sx:
MSK: spine abnormalities, myopathy
Skin: cafe au lait, dermal neurofibroma
Eye: Lisch nodules, optic nerve glioma
20
Q

Familial retinoblastoma

A 
Gene: RB1
Autosomal dominant
Tumour suppressor gene
Retinoblastoma
Other primitive neuroectodermal tumours (PNETs)
21
Q

Multiple endocrine neoplasia 1 (MEN1)

A 
Autosomal dominant
MEN1 gene: Tumour suppressor gene
Pituitary adenoma
Parathyroid hyperplasia
Pancreatic tumours (insulinoma most common. Glucagonoma, gastrinoma)
22
Q

Multiple endocrine neoplasia 2a (MEN2a)

A 
"Simple syndrome"
Autosomal dominant
Parathyroid hyperplasia
Medullary thyroid carcinoma
Pheochromocytoma
23
Q

Multiple endocrine neoplasia 2b (MEN2b)

A 
Variations of RET proco-oncogenes
Mucosal neuromas
Marfanoid body habitus
Medullary thyroid cancer
Pheochromocytoma
24
Q

Familial adenomatous polyposis (FAP)

A 
Autosomal dominant
APC gene: Tumour supressor gene
Polyps (colorectal, duodenum)
Colorectal cancer (7% by 21. 87% by 45. 93% by 50)
Gardner fibroma
Desmoid tumours
Osteomata
25
Q

Von Hippel-Lindau disease

A 
Autosomal dominant
VHL tumour suppressor gene
Angiomatosis
Haemoangioblastomas
Pheochromocytoma
Renal cell carcinoma
{pancreatic cysts
26
Q

Li-Fraumeni Syndrome

A

Autosomal dominant
TP53 gene mutation: tumour suppressor
Sarcoma, Breast, Leukaemia and Adrenal gland syndrome (SBLA syndrome)
Brain cancers, melanoma, colon, pancreas

27
Q

Fanconi Anaemia

A 
Autosomal recessive
FA gene
Myelodysplastic syndromes
Acute myeloid leukaemia
Bone marrow failure

X. MRCS: Pathophysiology (13 decks)

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