SPOT QUESTIONS 5 (Sept 2004) Q1 Finding at gastroscopy 1. Describe this lesion 2. Diagnosis 3. Treatment Q2 48 year old woman with itchy nipple 1. Diagnosis 2. Management 3. What operation would you do to treat this? Q3 1. Diagnosis 2. Definition 3. How is it treated? Q4 Barium meal showing extraluminal compression of D2/D3. History of obstructive jaundice, weight loss and back pain in old man. 1. Most likely diagnosis? 2. Clinical findings? 3. Treatment options for the diagnosis you have given. Q5 A healthy 84-year-old woman with a 6-month history of a slowly growing asymptomatic lesion on the dorsum of her right hand. 1. Diagnosis 2. Pathology 3. Natural history 4. Treatment Q6 Imaging finding: 1. Most likely diagnosis 2. Differential diagnosis 3. Pathogenesis most likely 4. Treatment Q7 56yr female with previous proctocolectomy. 1. Diagnosis 2. Natural history 3. Complications 4. Surveillance Q1 Finding at gastroscopy 1. Describe this lesion 2. Diagnosis 3. Treatment An ulcerated polypoid gastric lesion, appears to arise from submucosa with overlying normal mucosa GIST. Differential: atypical adenocarcinoma, MALT lymphoma, other lymphoma, other benign tumour Biopsy (“inkwell”, or in ulcerated region) – HISTO diagnosis by c-KIT (CD117), CD34, +/- actin staining [NB: -ve staining for desmin & S100]. EUS if available. Staging CT SCAN ABDO (direct spread, METS to liver and peritoneal cavity, lymph node spread is rare). Assessment of patient comorbidities. Discussion in UGI MDT meeting. Complete excision (R0 resection). Imatinib for metastatic or unresectable disease (over 80% will respond). Discuss mutational testing for exon domain mutation (predicts reponse to Imatinib) and availability for adjuvant therapy with local Novartis drug rep. 3 monthly follow-up with 3-6mthly CT imaging. All GIST's have malignant potential. May occur anywhere from oesophagus to rectum (stomach 50-60%, small intestine 20-30%, colon 5-10%, elsewhere ABDO cavity 5%, oesophagus 1.5%). Up to 30% are malignant at presentation, with 50% of these having metastasised. All have potential to become malignant. Post resection recurrence rates reported as high as 90%. Small intestinal GISTs are more aggressive than gastric GISTs of equal size. The most important prognostic features of primary tumour are: site, size, mitotic index, tumour rupture before or during surgery, complete resection margin. Up to 20% small GISTs (<5cm) exhibit metastatic behaviour, and very small lesions (<2cm) and those with a low mitotic activity can also metastasise. 80% of GISTs have a KIT tyrosine kinase mutation. Most affect exon 11 domain, however mutations also occur in exons 9,13,and 17. 5-7% occur as PDGFRA mutation. 10-15% are KIT and PDGFRA negative - “wild type” GISTs. Mutational analysis should be considered with primary disease, particularly those with high risk tumours. Kinase genotype can be determined from paraffin-embedded tumour samples. Imatinib (Glivec) Therapeutic effect can take several months (median 3mths). Appropriate initial dose = 400mg daily Kinase genotype has predictive significance – KIT exon 11 mutation was the single best predictor of a favourable response to Glivec Dose escalation if confirmed disease progression or documented exon 9 mutations. Check patient compliance first. Response to treatment determined by tumour size and density on CT scanning 48 year old woman with itchy nipple 1. Diagnosis 2. Management 3. What operation would you do to treat this? Paget's disease of the nipple. History and examination. Perform MAMMO and USS. Consider MRI (greater sensitivity) and may aid surgical planning. Confirm with full-thickness punch biopsy of the nipple. Exfoliative cytology or incisional biopsy if punch biopsy not available. Immunohistochemistry +ve staining for CK7, CK5/6, CAM-5.2 and AE1/AE3, but do not express S100, high-MW keratins and HMB-45, which helps differentiate from melanoma. Mastectomy or breast-conserving surgery involving removal of entire nipple-areolar complex followed by RTx. SLNB and/or AND if invasive disease or undergoing mastectomy (+ve LN in 2/3rds with palpable mass). Adjuvant therapy is based on the stage of the disease. NB: Differential: chronic eczema, benign papilloma of the nipple, BCC, malignant melanoma, Bowen's disease. Paget's disease of the nipple. “an eczematous change in the skin of the nipple”. More than 95% of women with Paget's disease of the nipple have an underlying malignancy (90% invasive, 10% DCIS), although almost half are clinically and mammographically undetectable. Comprises 5% breast malignancies. Aetiology: 2 hypotheses. The in-situ transformation hypothesis suggests Paget's cells arise from transformed malignant keratinocytes and is thus a type of in-situ Ca of the skin. Consistent with this is the Paget's cells and underlying cancer are often separated by some distance. The epidermotropic hypothesis suggests ductal cells migrate along the basement membrane of ducts into the nipple epidermis. Immunohistochemical studies support this with similar staining of Paget's cells and the underlying carcinoma. Clinical presentation: burning, itching, change in sensation of nipple and areola are first symptoms. Skin lesion which is raised, irregular, and sharply demarcated from surrounding skin. May have erythema and scaling of nipple. Begins on nipple. Nipple retraction and discharge is not common. 1. Diagnosis 2. Definition 3. How is it treated? Inflammatory breast carcinoma A clinico-pathological entity with rapidly progressive, aggressive breast inflammatory process with erythema, oedema and warmth in overlying skin. Suspect if “infection” does not settle rapidly with 1-2 weeks of antibiotics. NB: often no distinct mass as tumour infiltrates breast diffusely. Inflammatory breast cancer is defined histologically by the presence of cancer cells in the sub-dermal lymphatics on skin biopsy. Triple assessment - Examination, MAMMO, USS and tissue diagnosis (skin biopsy and targeted core biopsy with hormone receptivity). Biopsy shows infiltrating carcinoma with invasion of subdermal lymphatics. METS tend to occur early and widely, and hence disease is rarely curable. Stage disease with CT CHEST/ABDO and bone scan. Discuss in Breast MDT. Aggressive neo-adjuvant hormone therapy, chemo- and radiotherapy. Barium meal showing extraluminal compression of D2/D3. History of obstructive jaundice, weight loss and back pain in old man. 1. Most likely diagnosis? 2. Clinical findings? 3. Treatment options for the diagnosis you have given. Head of pancreas tumour (probably adenocarcinoma). Double duct obstruction – obstructive jaundice, pancreatitic duct dilatation. Approx 1 in 100 lifetime risk for pancreatic cancer. Steatorrhoea and weight loss, pain from pancreatitis or tumour infiltration of pain fibres, ask regarding late-onset diabetes without antecedent risks. Thrombophlebitis migrans. Stigmata weight loss. Jaundice. Anaemia. Virchow's node. Hepatomegaly or METS.Palpable gallbladder in painless jaundice (Courvoisier syndrome). Palpable mass. Succussion splash. Ascites. Sister Mary Joseph nodule and Blummer's shelf. [Measure glycoprotein carbohydrate tumour marker CA19-9, and if >200U/mL have 90% sensitivity, >1000 have high specificity (but also irresectability). Contrast-enhanced, tri-phasic MDCT scan of pancreas forms mainstay of diagnosis]. Treatment options: defined by stage of disease and comorbidities. >80% present with irresectable disease; prognosis is poor even with surgical resection (median survival 11-18mths, 10% 5yr survival). Medical/Radiation ONCO treatments some effectiveness in improving survival slightly. Palliative surgical options: Duodenal obstruction: Endoscopic stent or PEG/PEJ insertion Operative gastrojejunostomy (laparoscopic or open) Obstructive jaundice (N+V, intractable pruritus, progressive malnutrition): Endoscopic biliary stent via ERCP (plastic short-term, metallic longer durability) Radiological biliary stent Operative (choledocho-duodenostomy, choledocho-jejunostomy, cholecysto-jejunostomy, hepatico-jejunostomy) Pain: Analgesics, neuroleptics Laparoscopic Bilateral Transthoracic Splanchnicectomy Terminal palliation A healthy 84-year-old woman with a 6-month history of a slowly growing asymptomatic lesion on the dorsum of her right hand. 1. Diagnosis 2. Pathology 3. Natural history 4. Treatment Keratotic cutaneous horn of invasive cutaneous SCC. Differential includes: other tumours, viral warts, actinic keratosis, keratoacanthoma, Bowen’s disease, seborrheic keratosis, and basal-cell carcinoma, sebaceous horn from ruptured sebaceous cyst MACRO: firm, erythematous, keratotic, plaque with indiscrete margins typically on sun exposed regions of body. MICRO: neoplastic proliferation of atypical keratinocytes extending into the dermis, with large hyperchromatic and pleomorphic nuclei. Layers of keratinizing squamous cells may produce “horn pearls”. Natural history of SCC is quite variable. May present as slowly growing, locally invasive lesion without METS or as a rapidly growing, widely invasive tumour with early MET spread. In general, those arising from actinic keratoses are more common and of slow growing type, whereas those from Bowen's disease, erythroplasia of Queyrat, chronic radiation dermatitis, scars, and chronic ulcers tend to be more aggressive. Those arising from normal skin, lips, genitalia and anal region also tend to be aggressive. Treatment is operative with curative intent involving complete surgical excision aiming for 1cm margin. Probably require skin graft (full or split-thickness). Palpable nodal METS (<5%) removed via selective nodal resection according to draining lymph basin. Small lesions amongst actinic field defect may initially be treated with topical chemotherapeutic agents (eg 5-FU, imiquimod). Imaging finding: 1. Most likely diagnosis 2. Differential diagnosis 3. Pathogenesis most likely 4. Treatment Gas within bladder representing a colovesical fistula secondary diverticular disease Colovesical fistula secondary malignancy (eg colonic carcinoma, bladder carcinoma), Crohn's disease, radiation bowel injury, penetrating trauma, foreign bodies and iatrogenic injuries. Gas from recent urological operation. UTI with gas forming organism. Colovesical fistula is most common type fistulous communication between bladder and GI tract. M:F ratio 3:1. Diverticulitis is most common cause occurring in 2-4% cases. Clinically: may be completely asymptomatic. Typically refractory urinary tract infection, may have pneumaturia and/or faecaluria. Episode of diverticulitis may have gone completely unnoticed. O/E: NAD or pelvic mass. Rigid sigmoidoscopy usually NAD. Flexible sigmoidoscopy may disclose colon Ca or inflammation at fistula site. Cystoscopy shows bullous oedema, but fistula usually not visible. CT shows bladder air in 90%. Ba enema, USS, and cystography may miss small fistulae. Require exclusion of carcinoma in all cases. Inability to exclude cancer may prompt earlier operation. Treat Crohn’s disease. Resection sigmoid colon if fistula persists, but no need for emergency or urgent operation. May have spontaneous drainage of paracolic abscess via fistula to bladder and operation may not be necessary. In up to 50% fistula closes spontaneously. At operation: if suspect/confirmed cancer do not separate bladder from colon, rather resect en-bloc. For diverticulitis blunt dissection of colon off bladder, sigmoid resection, primary anastomosis +/- defunctioning ileostomy. Bladder side of fistula is sutured and the bladder is decompressed with a Foley catheter for 7- 10days. 56yr female with previous proctocolectomy. 1. Diagnosis 2. Natural history 3. Complications 4. Surveillance Primary sclerosing cholangitis Multiple intra- and extra-hepatic strictures in association with ulcerative colitis. Intermittent or progressive jaundice, with biliary disease sometimes pre-dating inflammatory bowel disease manifestation. Patients may also present with fatigue, pruritus, fever of unknown origin, or weight loss. Some patients present with the stigmata of chronic liver disease and cirrhosis. The onset and progression tend to be insidious. Recurrent obstructive jaundice and cholangitis, de novo biliary stone formation, cholangiocarcinoma (10-15%) Early detection of CCA is limited by a lack of reliable serologic, radiologic, and endoscopic findings. Biannual LFTs and CA 19- 9. Annual MRCP. ERCP + brushings for malignant stricutres. Researchers at the Mayo Clinic have developed a multivariate statistical survival model from long-term survival data (Mayo risk score).The model computes the score on the basis of the patient's age, history of variceal bleeding, and serum levels of albumin, bilirubin, and aspartate aminotransferase. Q8 1. Describe findings 2. Diagnosis 3. Aetiology 4. How would you manage this? 1. Diagnosis 2. Aetiology 3. How would you manage this? 1. Diagnosis 2. Pathogenesis 3. Complications 4. Management What is the diagnosis? Name 3 causes for this lesion What are potential complications of this lesion? List the Forrest criteria Discuss its virulence factors Name diagnostic tests for this organism Name this organism What is your treatment? What is the diagnosis? Name associated conditions with this diagnosis What are the histopathological features What is your treatment? What is the diagnosis? Discuss this condition What is your management? Diagnosis List techniques for endoscopic control of UGI haemorrhage Factors predicting rebleed What is the diagnosis? Discuss the pathogenesis of this condition Describe the clinical presentation of this condition Intra-operative finding: 1. Diagnosis 2. Aetiology 3. How would you manage this? 1. Describe findings 2. Diagnosis 3. Aetiology 4. How would you manage this? Left pupil smaller than right (miosis), left palpebral fissure narrower than right as the left upper eyelid is drooping (ptosis). Other likely features: anhidrosis, enopthalmus. Horner's syndrome A group of signs, usually unilateral, produced by paralysis of the cervical sympathetics whether of peripheral or central origin. Manage according to underlying cause. Neurologic or neuro- ophthalmic consultation may be considered. Interventional radiologic consultation in cases of suspected carotid artery dissection. Neurosurgical consultation should be considered in cases of suspected aneurysm. Surgical or oncologic consultation is dependent upon the particular etiology. MIOSIS: Appears at once after sympathectomy or block. Difference in size of pupils evident in daylight and accentuated in dim light since pupil does not dilate in dark. Yet pupil contracts briskly to light and convergence since third cranial nerve (thru ciliary ganglion) still controls sphincter pupillae. Homatropine but not cocaine dilates Horner pupil. Cilio-spinal pupil reflex lost. PTOSIS / NARROWING PALPEBRAL FISSURE: Due to combination of drooping of the upper lid and raising of the lower lid (at times with convex up appearance). Lid droops due to paralysis of non-striated part of levator palpebrae. Since voluntary portion of levator is controlled by 3rd nerve, ptosed lid can be voluntarily raised. Hence ptosis of Horner's syndrome is a pseudo-ptosis. ENOPHTALMOS: This is usually due to an optical illusion produced by the narrowed palpebral fissure. Evidence favors idea that muscle of Muller although important in animals is vestigial in man and does not contribute to either enophthalmos by paralysis or exophthalmas by stimulation. Occasionally atrophy of orbit contents and hypotony of globe produce some degree of enophthalmos ANHIDROSIS: Lack of sweating on ipsilateral side. First-order neuron lesions: Arnold-Chiari malformation, Basal meningitis (eg, syphilis), Basal skull tumors, Cerebral vascular accident (CVA)/Wallenberg syndrome (lateral medullary syndrome), Demyelinating disease (eg, multiple sclerosis, Intrapontine hemorrhage, Neck trauma (eg, traumatic dislocation of cervical vertebrae, traumatic dissection of the vertebral artery), Pituitary tumor, Syringomyelia Second-order neuron lesions: Pancoast tumor (tumor in the apex of the lung - most commonly squamous cell carcinoma), Birth trauma with injury to lower brachial plexus, Cervical rib, Aneurysm/dissection of aorta, Subclavian or CCA, Central venous catheterization, Trauma/surgical injury (eg, radical neck dissection, thyroidectomy, carotid angiography, coronary artery bypass graft), Chest tubes, Lymphadenopathy (eg, Hodgkin disease, leukemia, tuberculosis, mediastinal tumors), Mandibular tooth abscess, Lesions of the middle ear (eg, acute otitis media), Neuroblastoma Third-order neuron lesions: Internal carotid artery dissection, Raeder syndrome (paratrigeminal syndrome), Carotid cavernous fistula, Cluster/migraine headaches, Herpes zoster 1. Diagnosis 2. Aetiology 3. How would you manage this? Rapidly growing Merkel Cell Carcinoma of the face in an elderly man. Merkel cell carcinoma (MCC), or neuroendocrine carcinoma of the skin, is an uncommon and often aggressive malignancy that has a poor prognosis. The Merkel cell is located in or near the basal layer of the epidermis and is closely associated with terminal axons. MCC is predominantly a tumor of the elderly, and most reported cases have occurred in Caucasians. It occurs most frequently in the head and neck region and in the extremities, and has a predilection for the periocular region. Risk factors are sun exposure and immunosuppression. Wide local excision or MOHS micrographic surgery, sentinel LNBx +/- ND, post-op RTx (plus CTx for Stage II). CTx alone for Stage III disease. 1. Diagnosis 2. Pathogenesis 3. Complications 4. Management Neurofibromatosis type I, with Lisch nodules (hamartomas of iris or freckling in the iris) and neurofibroma on the skin Autosomal dominant NF-1 gene on 17q codes for a protein called neurofibromin (tumor suppressor). 50% familial/50% sporadic. Neurofibromatosis alters or weakens this protein with rapid, radical growth of cells all over the body, especially around the nervous system. This leads to several tumors (optic glioma, neurofibromas and schwannomas). Lesions along visual, auditory, or CNS nerve pathways may result in blindness, deafness, or neurologic deficits. Also get high incidence of learning disabilities, increased chances of developing petit mal epilepsy (a Partial absence seizure disorder) and orthopeadic manifestations. Rarely renal artery stenosis and phaeochromocytoma. No cure exists for NF1 or NF2. The recommendations for follow-up include referral to support groups, psychological counselling, and evaluation for learning disorders; potential surgical excision of the lesions; and regular monitoring by a primary care provider for any lesion changes (patients with NF1 are at a somewhat increased risk for malignancy). Audiologic examination performed before child is of school age. Annual ocular examinations are recommended. Genetic testing is also available for patients with NF who wish to have children. Historically, surgery has been a successful treatment for the lesions themselves; however, there is often recurrence, and nerve damage is a risk in cases in which the lesions are located along neural pathways A patient meeting two or more of the following criteria can be diagnosed as suffering from NF 1 Neurofibromas - Two or more, or one plexiform neurofibroma Café-au-lait macules - Six or more measuring 1.5 cm in their greatest dimension Freckling - In the axillary or inguinal areas Optic glioma Iris hamartomas (Lisch nodules) - Two or more Sphenoid dysplasia or thinning of the cortex of the long bones First-degree relative What is the diagnosis? Name 3 causes for this lesion What are potential complications of this lesion? List the Forrest criteria Pre-pyloric ulceration (probably benign) H. pylori infection, NSAIDS, stress ulceration, combination of these Bleed, Block, Burst, Burrow, Become malignant (NB: H pylori infection (in childhood?) → atrophic gastritis → decreased gastric acid output → gastric cancer & decreased risk duodenal ulcer. Conversely H pylori associated DU lowers risk of gastric cancer by ? mechanism) Grade I: Active bleeding – Ia = spurting; Ib = oozing Grade 2: Ulcer with signif bleeding risk – IIa = non-bleeding visible vessel, IIb = adherent clot, IIc = red or dark blue flat spot Grade 3: ulcer with clean base Re-bleeding risks: Grade I 4-20%, Grade IIa ~10%, Grade IIb 0-10%, Grade IIc 0-5%, Grade III 0-5%. Grade I and IIa mandate endoscopic therapy, IIb at endoscopists discretion. Name this organism Discuss its virulence factors Name diagnostic tests for this organism What is your treatment? Helicobacter pylori (non-sporing, G -ve curvilinear rod) cagA gene which codes cag pathogenicity island, vacA gene which codes for a vacuolating cytotoxin, bacterial lipopolysaccharide (endotoxin) and other proinflammatory proteins, urease enzyme which turns urea → ammonia thus buffering acid, flagella to allow movement into mucoid lining of stomach, adhesions to allow binding to epithelial cells (? especially cells that bear blood group O antigen) Rapid urease (sens 90%, spec 90-95%), serology (98, 100), culture (80, 100), microscopy (90, 90), carbon breath test [C13 stable, C14 need gamma camera] (95, 95), faecal antigen (93, 93), PCR on biopsies (>95 both) Klacid HP7: Amoxycillin 1.0g PO BD 1/52, Clarithromycin 500mg PO BD 1/52, Omeprazole 20mg PO BD 2/52 What is the diagnosis? Name associated conditions with this diagnosis What are the histopathological features What is your treatment? “Watermelon stomach” ie Gastric Antral Vascular Ectasia Chronic renal failure, collagen vascular disease, autoimmune connective tissue disorders, scleroderma, bone marrow transplantation, hereditary haemorrhagic telangiectasias, portal hypertension/liver cirrhosis Histologic hallmark is superficial fibromuscular hyperplasia of gastric antral mucosa with capillary ectasia and microvascular thrombosis in the lamina propria Argon plasma coagulation or Nd:YAG laser. Tranexamic acid, thalidomide, oestrogen + progesterone have been tried. Surgical antrectomy for unresponsive severe cases. What is the diagnosis? Discuss this condition What is your management? Dieulafoy's lesion (Exculceratio simplex) An abnormal tortuous artery that courses through the submucosal layer in the absence of an associated ulcer. 95% occur in the upper stomach within 6cm of GO junction commonly on the lesser curvature, however they can occur anywhere in the GI tract (duodenum 18%, colon 10%, jejunum 2%, oesophagus 2%) Endoclip application and electrocautery Diagnosis List techniques for endoscopic control of UGI haemorrhage Forrest Grade 1b duodenal ulcer Injection therapy 1:10 000 Adrenaline (direct effect – vasoconstriction, platelet activation + subsequent stimulation of coagulation cascade; tamponade effect) Thermal: contact – heater probe, bipolar probe; non-contact – Nd:YAG laser, Argon plasma coagulation Mechanical devices: clips, loops, bands Combination therapy of above Rockall scoring predictors: SCRhAPS – Source of bleed, Co- morbid illnesses, Recent haemorrhage stigmata, Age, Presence of Shock. PEPTIC: failure to use Proton pump inhibitor post-procedure, Endoscopically demonstrated bleeding, Peptic ulcer as the source of bleed, Treatment with epinephrine monotherapy, Intravenous or LMW heparin use post-procedure, and moderate or severe Cirrhosis. What is the diagnosis? Discuss the pathogenesis of this condition Describe the clinical presentation of this condition Mallory-Weiss tear at gastro-oesophageal junction Sudden large transient pressure gradient across region of GO junction with acute distension of non-distensible lower oesophagus and relatively immobile lesser curvature of the gastric cardia. Another mechanism is violent prolapse or intussusception of upper stomach into the oesophagus. Retching or vomiting followed by haemetemesis reported in 30- 85%. NB up to 50% have haemetemesis on 1st vomit, 85% total have haemetemesis, excess alcohol in 40-75%, aspirin in up to 30%. Intra-operative finding: 1. Diagnosis 2. Aetiology 3. How would you manage this? Small bowel intussusception Invagination (or telescoping) of one loop of bowel into another. Rarely encountered in adults and usually caused by a benign or malignant polyp, intraluminal lesion or Meckel's diverticulum. More often seen in children; an organic lesionis not required, and the syndrome of colicky pain, passage of blood per rectum, and a palpable mass ( the intussuscepted segment) is characterisitic. Adult: Reduce the intussusception as far as possible, then resect affected bowel segment with end-to-end anastomosis (hand sewn). Child: squeeze intussusceptum back along the intussuscipiens. Ensure complete reduction. Only resect bowel if gangrenous bowel or unable to reduce, and I would then perform end-to- end anastomosis (hand sewn).