Cancer conditions Flashcards
c.3109C>T_p.Gln1037X BRCA2 change www.royalmarsden.nhs.uk/our-consultants-units-and-wards/clinical-units/cancer-genetics-unit A beginners guide to brca1/2
Bladder cancer
- Definition
- Explain aetiology/risk factors
- Epidemiology
- Presenting Syx
- Presenting Sx
- Investigations
- Malignancy of bladder cells - most transitional cell carcinomas but rarely may be squamous cell carcinomas associated with chronic inflammation
- Unknown; RF = smoking, dye stuffs, cyclophosphamide treatment, pelvic irradiation, chronic UTIs, schistosomiasis
- 2% of cancers, 2-3x more common in males with peak incidence = 50-70yrs
- Painless microscopic haematuria, irritative/storage syx (freq, urgency, nocturia), recurrent UTIs, and rarely, ureteral obstruction
- No sx often, bimanual examination may be part of disease staging
- Cytoscopy for visualisation, biopsy or removal, USS, IV radiography, CT/MRI for staging
Breast cancer
- Definition
- Explain aetiology/risk factors
- Epidemiology
- Presenting Syx
- Presenting Sx
- Investigations
- Malignancy of breast tissue - invasive ductal carcinoma
- Genetics (BRCA-1/BRCA-2), environmental factors, RF = age, prolonged exposure to oestrogen (nulliparity - not having kids, early menarche, late menopause, obesity, COCP, HRT), FHx of breast cancer
- Most common cancer in women, peak at 40-70
- Breast lump (painless), changes in breat shape, nipple discharge (bloody?), axillary lump, syx of malignancy = weight loss, bone pain, paraneoplastic syndrome
- Breat lump (firm, irregular, fixed to surrounding structures), peau d’orange, skin tethering, fixed to chest wall, skin ulceration, nipple inversion, Paget’s disease of the nipple (eczema-like hardening of the nipple - ductal carcinoma in situ infiltrating the nipple
- triple assessment = clinical assessment, imaging = US (<35) OR mammogram (>35), tissue diagnosis = fine needle aspiration OR core biopsy; Sentinel LN biopsy (radioactive tracer injected into tumour, ID sentinel LN and then biopsy node for spread); staging = CXR, liver US, CT (brain/thorax); bloods = FBC, U&Es, Ca, bone profile, LFTs, ESR
Cholangiocarcinoma
- Definition
- Explain aetiology/risk factors
- Epidemiology
- Presenting Syx
- Presenting Sx
- Investigations
- Primary adenocarcinoma of the biliary tree
- Unknown; RF = UC + 1ry sclerosing cholangitis, choledochal cyst, caroli disease, parasitic infection of biliary tract
- Very rare; more common in developing world due to increased prevalence of parasitic infections
- Obstructive jaundice syx = yellow sclera, pale stools, dark urine, pruritus; abdo pain/fullness, systemic syx of malignancy = weight loss, malaise, anorexia
- Jaundice, palpable gallbladder (courvoisier’s law - jaundice + palpable gallbladder (non-tender) is unlikely to be gallstones), epigastric/RUQ mass, may be hepatomegaly
- Bloods = FBc, U+Es, LFTs (high ALP and GGT), clotting screen, tumour markers (CA19-9 is marker of pancreatic cancer and cholangiocarcinoma); endoscopy; USS, CT, MRI, Bone scan for staging
CNS tumours
- Definition
- Explain aetiology/risk factors
- Epidemiology
- Presenting Syx and Sx
- Investigations
- Tumours of CNS -> high grade = tumour grows rapidly and aggressively: glioma and glioblastoma multiforme, primary cerebral lymphoma, medulloblastoma; VS Low grade = tumour grows slowly and may/not be successfully treated: menangioma, acoustic neuroma, neurofibroma, pit tumour, craniopharyngeoma, pineal tumour.
- Brain metastases arise commonly from = lung, breast, stomach, prostate, thyroid, colorectal
- Arise from any of the cells in the CNS, RF = ionising radiation, immunosuppression, inherited syndromes (neurofibromatosis, tuberous sclerosis)
- AIDS pts have an increased risk of developing CNS tumours, develop at any age, more common between 50-70
- Presentation depends on size and location of tumour; headache worse in morning and when lying down, nausea and vomiting, seizures, progressive focal neurological deficits, cognitive and behavioural syx, papilloedema
- Bloods = CRP/ESR to eliminate others (temporal arteritis), CT/MRI, biopsy and tumour removal, Magnetic resonance angiography - define changing size and blood supply of the tumour; PET
Colorectal cancer
- Definition
- Explain aetiology/risk factors
- Epidemiology
- Presenting Syx
- Presenting Sx
- Investigations
- Malignant adenocarcinoma of large bowel, 60% rectum and sigmoid, 30% desc colon, 10% rest of colon
- Environmental and genetic, sequence of genetic changes from normal bowel to cancer; RF = western diet, colorectal polyps, previous colorectal cancer, FHx, IBD
- 2nd most common cause of cancer death in west; 60-65yrs age of dx
- 20% will present as emergency with pain and distention due to large bowel obstruction and haemorrhage/peritonitis due to perf. Depends on size and location:
- Left colon and rectum = change in bowel habit, rectal bleeding (blood/mucus with stools), tenesmus
- Right colon = later presentation, anaemia syx (lethargy), weight loss, non specific malaise, lower abdo pain (rare)
- Anaemia, abdo mass, if metastatic = hepatomegaly, ascites; low lying rectal may be felt on DRE
- Bloods = FBC (anaemia), LFTs, tumour markers (CEA); Stools FOBT as screening test; endoscopy can be used to biopsy tumour; double contrast barium enema (apple core strictures), contrast CT for Duke’s staging
Gastric cancer
- Definition
- Explain aetiology/risk factors
- Epidemiology
- Presenting Syx
- Presenting Sx
- Investigations
- Cancer of stomach, usually adenocarcinoma; rarer forms = lymphoma, leiomyosarcoma, stromal tumours
- Unknown, env and genetics; RF = smoked and processed foods, smoking, alcohol, H. pylori infection, atrophic gastritis, pernicious anaemia, partial gastrectomy, gastric polyps
- Common cause of cancer death; highest incidence in Japan, 6th most common in UK; >50yrs
- Asyx early, early satiety, epigastric discomfort, systemic syx = weight loss, anorexia, n/v; dysphagia, syx of metastases (ascites and jaundice)
- Epigastric mass, abdo tenderness, ascites, sx of anaemia, virchow’s node, sister Mary Joseph’s nodule (metastatic node on umbilicus), Krukenberg’s tumour (ovarian mets)
- Upper GI endoscopy; bloods = FBC (anaemia), LFTs; CT/MRI for staging, endoscopic USS - assess depth of gastric invasion and LN involvment
Hepatocellular carcinoma
- Definition
- Explain aetiology/risk factors
- Epidemiology
- Presenting Syx
- Presenting Sx
- Investigations
- Primary malignancy of liver parenchyma
- Chronic liver damage (alcoholic liver disease, hep c, autoimmune disease), metabolic disease (haemochromatosis), aflatoxins (cereals contaminated with fungi)
- Common, 1-2% of malignancies, less common than liver metastases, high incidence in hep b/c endemic regions
- Syx of malignancy = malaise, weight loss, loss of appetite; hx of exposure to carcinogens = high alcohol intake, hep b/c (sexual activity, IV drug use), abdo distention, jaundice
- Sx of malignancy = cachexia, lymphadenopathy; hepatomegaly, jaundice, ascites, bruit over liver
- Bloods = FBC, ESR, LFTs, Clotting, alpha-fetoprotein (tumour marker), hepatitis serology; imaging = abdo USS, CT/MRI gold standard for staging; histology/cytology = ascitic tap sent for cyto analysis; staging = CT scan
Lung Cancer
- Definition
- Aetiology/Risk Factors
- Epidemiology
- Presenting Syx
- Presenting Sx
- Investigations
- Primary malignant neoplasm of the lung; Small cell lung cancer (20%) and Non-small cell lung cancer (80%)
- Smoking, asbestos exposure, other occupational exposure (polycyclic hydrocarbons, nickle, radon); atmospheric pollution
- Most common FATAL cancer in the west, 3x more common in MALES
- Asyx, 1ry cancer = cough, haemoptysis, chest pain, recurrent pneumonia; due to local invasion = brachial plexus invasion has shoulder and arm pain, left recurrent laryngeal nerve has hoarse voice and bovine cough, dysphage, arrhythmias, horner’s syndrome; due to metastatic disease/paraneoplastic phenomenon = weight loss, fatigue, fractures, bone pain
- no sx, fixed monophonic wheeze, signs of lobar collapse/pleural effusion, sx of metastases
- Dx = CXR, sputum cytology, bronchoscopy with brushings/biospy, CT/US-guided percutaneous biopsy, LN biopsy; Staging = CT/MRI of head, chest and abdomen; Bloods = FBC, U&Es, Ca (hyper is common), ALP (raised with bone mets), LFTs; Pre-op = ABG, pulm function tests
Mesothelioma
- Definition
- Aetiology/Risk Factors
- Epidemiology
- Presenting Syx and Presenting Sx
- Investigations
- Aggressive tumour of the mesothelial cells, usually occurring in the pleura (90%), but also in other sites such as peritoneum, pericardium and testes
- Strongly related to asbestos exposure
- Rare, more common in elderly; asbestos exposure in 70-80%, latent period between exposure and mesothelioma can be up to 50yrs
- Most common = SOB, Chest pain (dull, diffuse and progressive), weight loss, occasionally palpable chest wall mass, fatigue, fever, night sweat, clubbing (asbestosis), sx of mets
- CXR/CT (show pleural effusion, maybe = pleural mass and rib destruction), MRI, PET, Pleural fluid sent for cytological analysis and may be blood stained, pleural biopsy
Neutropenic sepsis
- Definition
- Aetiology/Risk Factors
- Epidemiology
- Presenting Syx and Presenting Sx
- Investigations
- Development of sepsis in a patient with neutropenia -> Dx = temp >38, neutrophil count <0.5 x 10^9/L; can also have without fever due to meds/steroids
- Incidental = congenital (ethnic variation, cyclical neutropenia in children = VERY RARE), acquired (decreased/ineffective neutrophil production = bone marrow infiltration, aplastic anaemia, B12/folate deficiency, chemo/radiotherapy; accelerated turnover = fety’s syndrome, hypersplenism, malaria; others = toxoplasmosis, dengue fever) and Febrile neutropenia = temp >38.5 or 2 consecutive above 38 for 2hrs and absolute neutrophil count <0.5 x10^9 /L
- Most common in pts with cytotoxic chemo
- Hx for = high risk features: active cancer, recent chemo, use of immunosuppressants or immunosuppressive illness; CKD; recent blood products; intravascular devices; Exam = sx of infection may be minimal, pyrexia, features of infective endocarditis, lymphadenopathy, skin rashes
- FBC (neutrophil level), Blood cultures (sepsis), others = blood film, D-dimer, U&Es, creatinine, LFTs
Oesophageal cancer
- Defintion
- Aetiology/Risk Factors
- Epidemiology
- Presenting syx
- Presenting Sx
- Investigation
- Malignant tumour arising in the oesophagus -> squamous cell carcinoma and adenocarcinoma
- SCC = alcohol, tumour, plummer-vinson syndrome, achalasia, scleroderma, coeliac disease, nutritional deficiencies, dietary toxins; adenocarcinoma = GORD, Barrett’s oesophagus
- 3x more common in males, 8th most common, scc more common in developing countries, adenocarrcinoma more in western world
- asyx, progressive dysphagia (initially worse for solids), regurgitation, cough, choking after food, voice hoarseness, odynophagia (painful swallowing), weight loss, fatigue (IDA)
- No sx, metastatic disease may cause = supraclavicular lymphadenopathy, hepatomegaly, hoarseness, sx of bronchopulm involvement
- Endoscopy (brushings and biopsy), imaging (barium swallow and CXR), staging (CT chest and abdo), other (bronchoscopy, Lung FT, ABGs)
Pancreatic cancer
- Defintion
- Aetiology/Risk Factors
- Epidemiology
- Presenting syx
- Presenting Sx
- Investigation
- Malignancy arising from the exocrine or endocrine tissues of the pancreas
- UNKOWN, 5-10% hereditary (MEN, HNPCC, FAR, VHLS) RF = age, smoking, DM, chronic pancreatitis, dietary (low intake of fresh fruit and veg)
- Increasing incidence, 2x more common in males, 60-80yrs peak
- Non-specific, anorexia, malaise, nausea, epigastric pain, weight loss, DM, jaundice
- Weight loss, epigastric tenderness/mass, jaundice/palpable gallbladder (courvoisier’s law), metastatic spread = hepatomegaly, Trousseau’s sx of malignancy = superficial thrombophlebitis
- Bloods = CA19-9, CEA is elevated, obstructive jaundice = high bilirubin/ALP/deranged clotting; imaging = USS, CT w/out guided biopsy, MRI/MRCP, ERCP (may allow biopsy bile, cytology and stenting)
Prostate cancer
- Defintion
- Aetiology/Risk Factors
- Epidemiology
- Presenting syx
- Presenting Sx
- Investigation
- Primary malignant neoplasm of the prostate gland
- Unknown, RF = age, afro-caribbean, FHx, Dietary factors, occupational exposure to cadmium
- Common, 2nd most common cause of male cancer
- Asyx, Lower UT obstruction = frequency, hesitancy, poor stream, terminal dribbling, nocturia; Metastatic spread = bone pain, cord compression, paraneoplastic syndromes, systemic syx: malaise, anorexia, weight loss
- Assymetrical hard nodular prostate, loss of midline sulcus
- Bloods = FBC, U+Es, PSA (not very specific), acid phosphatase, LFTs, bone profile; CT/MRI for local invasion/LN involvement; transrectal US and needle biopsy; isotope bone scan
Renal Cell Cancer
- Defintion
- Aetiology/Risk Factors
- Epidemiology
- Presenting syx
- Presenting Sx
- Investigation
- Primary malignancy of the kidneys
- Renal clear cell carcinoma (80%) of unknown cause, papillary carcinoma (10%) of unknown cause, transitional cell carcinoma (10%) occur at renal pelvis; RF =
- associated with inherited conditions such as mutation in VHL protein (causes headaches, balance issues, dizziness, limb weakness, vision problems, high BP),
- tuberous sclerosis (rare genetic disease causing benign tumours to grow in the brain and other organs),
- PCKD,
- familial renal cell cancer,
- smoking,
- chronic dialysis;
- can cause abnormal LFTs in absence of liver mets = STRAUFFER’S SYNDROME
- Uncommon, 3% of adult malignancies, peak 40-60yrs
- RCC = late presentation, asyx in 90%, haematuria, flank pain, abdominal mass; Transitional cell carcinoma = presents earlier with haematuria; systemic sx of malignancy = weight loss, malaise, paraneoplastic syndromes (fever, hyperca, polycythaemia)
- Palpable renal mass, HTN, plethora, anaemia, LHS tumour can obstruct left testicular vein as it joins the left renal vein causing LHS varicocoele
- Urinalysis (haematuria, cytology), Bloods (FBC, U&Es, Ca, LFTs, High ESR (75%)), abdo USS (best first line), CT/MRI for staging
Testicular cancer
- Defintion
- Aetiology/Risk Factors
- Epidemiology
- Presenting syx
- Presenting Sx
- Investigation
- Malignant tumour of the testes.
- Types:
- Seminomas - 50%
- Non-seminomatous germ cell tumours/teratomas - 30%
- Rare: gonadal stromal tumours and NHL
- Types:
- Unknown
- RF: maldescended testes, ectopic testes, atrophic testes
- Uncommon, 1% of male malignancies, common age of onset: 18-35yrs
- Swelling or discomfort of the testes, backache due to paraaortic LN enlargement; lung mets -> SOB, haemoptysis
- Painless, hard testicular mass; 2ry hydrocoele, lymphadenopathy, gynaecomastia
- Bloods: FBC, U+E, LFTs, Tumours (alpha-fetoprotein, beta-HCG, LDH
- Urine pregnancy test - +ve if tumour produces b-HCG
- CXR for lung mets
- Testicular USS: visualisation, associated hydrocoele
- CT abdo and thorax: allows staging -> royal marsden hospital staging
Tumour Lysis Syndrome
- Defintion
- Aetiology/Risk Factors
- Epidemiology
- Presenting syx
- Presenting Sx
- Investigation
- Group of metabolic abnormalities that can occur as a complication during treatment of cancer where large amounts of tumour cells are lysed at the same time by treatment, releasing their contents into the bloodstream
- Sudden lysis of many tumour cells, releasing toxic contents into blood, most commonly after tx of lymphomas and leukaemias; RF are characteristics of = tumour (high cell turnover rate, rapid growth rate, high tumour bulk), pt (baseline serum creatinine, renal insufficiency, dehydration), chemo (chemo-sensitivity - lymphoma has higher risk)
- Occurs in pts with poorly differentiated lymphoma and leukaemias
- Hyperkalaemia = Arrhythmias, severe muscle weakness and paralysis; hyperphosphataemia = Acute kidney failure (crystals (CaPO4) in kidney parenchyma); hypocalcaemia = Tetany, parkinsonism, myopathy, sudden mental incapacity; hyperuricaemia = gout; lactic acidosis
- Check levels of metabolites = Potassium, phosphate, Calcium, uric acid; monitor for syx = increased serum creatinine, arrhythmia, seizure
Definition
Bladder cancer
Malignancy of bladder cells - most transitional cell carcinomas but rarely may be squamous cell carcinomas associated with chronic inflammation
S+S
Bladder cancer
- Painless microscopic haematuria, irritative/storage syx (freq, urgency, nocturia), recurrent UTIs, and rarely, ureteral obstruction
- No sx often, bimanual examination may be part of disease staging
investigations
Bladder cancer
- Cytoscopy for visualisation, biopsy or removal,
- USS,
- IV radiography,
- CT/MRI for staging
Definition
Breast cancer
- Malignancy of breast tissue - invasive ductal carcinoma
- Genetics (BRCA-1/BRCA-2), environmental factors,
- RF = age, prolonged exposure to oestrogen (nulliparity - not having kids, early menarche, late menopause, obesity, COCP, HRT), FHx of breast cancer
S+S
Breast cancer
- Breast lump (painless), changes in breat shape, nipple discharge (bloody?), axillary lump,
- syx of malignancy = weight loss, bone pain, paraneoplastic syndrome
- Breast lump (firm, irregular, fixed to surrounding structures), peau d’orange, skin tethering, fixed to chest wall, skin ulceration, nipple inversion,
- Paget’s disease of the nipple (eczema-like hardening of the nipple - ductal carcinoma in situ infiltrating the nipple
Investigations
Breast Cancer
- Triple assessment =
- clinical assessment,
- imaging = US (<35) OR mammogram (>35),
- tissue diagnosis = fine needle aspiration OR core biopsy;
- Sentinel LN biopsy (radioactive tracer injected into tumour, ID sentinel LN and then biopsy node for spread);
- staging = CXR, liver US, CT (brain/thorax);
- bloods = FBC, U&Es, Ca, bone profile, LFTs, ESR
Definition
Cholangiocarcinoma
1ry adenocarcinoma of the biliary tree
S+S
Cholangiocarcinoma
- Obstructive jaundice syx = yellow sclera, pale stools, dark urine, pruritus;
- abdo pain/fullness
- systemic syx of malignancy = weight loss, malaise, anorexia
- Jaundice,
- palpable gallbladder (courvoisier’s law - jaundice + palpable gallbladder (non-tender) is unlikely to be gallstones),
- epigastric/RUQ mass,
- may be hepatomegaly
Investigations
Cholangiocarcinoma
- Bloods = FBC, U+Es, LFTs (high ALP and GGT),
- clotting screen,
- tumour markers (CA19-9 is marker of pancreatic cancer and cholangiocarcinoma);
- endoscopy;
- USS, CT, MRI,
- Bone scan for staging
Definition
CNS tumour
- Tumours of CNS ->
- high grade = tumour grows rapidly and aggressively: glioma and glioblastoma multiforme, primary cerebral lymphoma, medulloblastoma;
- VS Low grade = tumour grows slowly and may/not be successfully treated: menangioma, acoustic neuroma, neurofibroma, pit tumour, craniopharyngeoma, pineal tumour.
- Brain metastases arise commonly from = lung, breast, stomach, prostate, thyroid, colorectal
S+S
CNS tumour
- Presentation depends on size and location of tumour;
- headache worse in morning and when lying down,
- nausea and vomiting,
- seizures,
- progressive focal neurological deficits,
- cognitive and behavioural syx,
- papilloedema
Definition
Colorectal cancer
- Malignant adenocarcinoma of large bowel,
- 60% rectum and sigmoid,
- 30% desc colon,
- 10% rest of colon
S+S
Colorectal cancer
- 20% will present as emergency with pain and distention due to large bowel obstruction and haemorrhage/peritonitis due to perf. Depends on size and location:
- Left colon and rectum = change in bowel habit, rectal bleeding (blood/mucus with stools), tenesmus
- Right colon = later presentation, anaemia syx (lethargy), weight loss, non specific malaise, lower abdo pain (rare)
- Anaemia,
- abdo mass,
- if metastatic = hepatomegaly, ascites;
- low lying rectal may be felt on DRE
Investigations
Colorectal cancer
- Bloods = FBC (anaemia), LFTs, tumour markers (CEA);
- Stools FOBT as screening test;
- endoscopy can be used to biopsy tumour;
- double contrast barium enema (apple core strictures),
- contrast CT for Duke’s staging
Definition
Gastric cancer
Cancer of stomach, usually adenocarcinoma;
rarer forms = lymphoma, leiomyosarcoma, stromal tumours
S+S
Gastric cancer
- Asyx early,
- early satiety,
- epigastric discomfort,
- systemic syx = weight loss, anorexia, n/v;
- dysphagia, syx of metastases (ascites and jaundice)
- Epigastric mass,
- abdo tenderness,
- ascites,
- sx of anaemia,
- virchow’s node,
- sister Mary Joseph’s nodule (metastatic node on umbilicus),
- Krukenberg’s tumour (ovarian mets)
Investigations
Gastric cancer
- Upper GI endoscopy;
- bloods = FBC (anaemia), LFTs;
- CT/MRI for staging,
- endoscopic USS - assess depth of gastric invasion and LN involvment
Definition
Hepatocellular carcinoma
1ry malignancy of liver parenchyma