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NEOPLASIA CASES CASE 1 • A 20 year old female presented with a round mobile breast lump. She has no family history of breast cancer •Question : What test should the doctor perform ? •Answer : Fine Needle Aspiration ( FNA) FNA on Breast FNA slide • Question : What are the expected findings ? • Answer : Benign smear of cohesive uniform cells of two types • Diagnosis : Most likely Fibroadenoma • Question : What is a fibroadenoma ? • Answer : An encapsulated tumor of the breast composed of ducts (epithelial cells) & stroma ( fibrous tissue) Therefore, this is an example of a mixed tumor Fibroadenoma Fibroadenoma • Question : What is the behaviour of this tumor? • Answer : Benign Case 2 • A 30 year old female with a hard mass in the breast, of several months duration. She has a strong family history of breast cancer • Question : What genetic abnormality may be found in this patient ? • Answer : ????? • Question : What investigations are recommended ? • Answer : –Mammography –FNA –Chest X ray –Ultrasound, CT, MRI….. etc Mammography machine Mammography Picture FNA suggesting cancer • Question : What is the diagnosis ? • Answer : Cellular smear with pleomorphic cells mostly malignant • The patient underwent surgery for : 1- Frozen section 2- Wide Excision or Mastectomy • Question : What is a frozen section ? • Answer : Excision of a piece of the tumor processed by freezing rather than paraffin section, for rapid diagnosis. Breast Cancer • The tumor was very hard & gritty on cutting. • Why ? • Answer : ????? Desmoplasia • The patient also had several enlarged axillary lymph nodes & mass in the lung • Question : What are they likely to show ? • Answer : Metastatic carcinoma of breast origin Tumor in lymphatic channels Metastatic tumor in LN Spread along pleura • Apart from the original diagnosis, the surgeon required other staining techniques in order to guide him for further therapy & assess prognosis. • Question: What were they ? • Answer : Immunohistochemical stains for – Estrogen receptors – Progesteron receptors – HER 2/NEU Tumor cells are ER positive Tumor cells are HER2/NEU positive CASE 3 Clinical History 28 year old male complaining of nausea,vomiting, abdominal pain & BLOODY STOOL • Family history of uncle & grandfather dying of colon cancer • His liver is enlarged • Investigations include : - Chest X-ray –Abdominal ultrasound and CT scan –Colonscopy • Results : • Chest X ray : Multiple bilateral opacities in the lung fields • Ultrasound : Liver shows multiple nodules • Colonoscopy : Hundreds of polyps throughout the colon & an ulcerating mass in the sigmoid. • QUESTION : What do these findings suggest ? Patient has a malignant tumor arising from one of the polyps, with metastases to liver & lung Questions : • What is the possible diagnosis ? • Answer : Familial Adenomatosis Polyposis with malignant transformation to adenocarcinoma • What genetic alterations are seen in such patients? • Answer : Germ line mutation of one copy of APC gene followed by several others ( Multisteps ) Structure of Polyp Colonic Adenomatous Polyp What is this process called ? Adenocarcinoma Liver Metastases Liver Metastases Liver Metastases Lymph Node Metastases Questions • What other inherited Colon Carcinoma do you know ? • Answer : • Hereditary Nonpolyposis Colonic Carcinoma ( HNPCC) • What is the genetic defect in this case ? • Defective Mismatch Repair genes ADENOCARCINOMA at ascending Colon, no polyp