1 / 16

Mr JS, 23yo man

Mr JS, 23yo man. Initially presented with haematochezia , abdominal pain and IBS-like Sx Family Hx of father with bowel cancer, age 40 Diagnosis of Lynch syndrome Unclear how or when this diagnosis was made Otherwise well, ex-smoker (3 pack years)

nichole-whitehead
Download Presentation

Mr JS, 23yo man

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. Mr JS, 23yo man • Initially presented with haematochezia, abdominal pain and IBS-like Sx • Family Hx of father with bowel cancer, age 40 • Diagnosis of Lynch syndrome • Unclear how or when this diagnosis was made • Otherwise well, ex-smoker (3 pack years) • On colonoscopy investigating haematochezia, multiple polyps were found and excised

  2. Malignant sigmoid polyp(sessile serrated adenoma) Subsequent staging investigations confirmed T1N0M0 disease

  3. Synchronous tubular adenomawith low grade dysplasia

  4. Treatment of the Colon Ca • Diagnosed with Lynch syndrome • Unclear how or when this diagnosis was made • Underwent total colectomy for definitive treatment of colon cancer and prophylaxis • No neoadjuvant or adjuvant therapy at this time • Complications of this treatment: • Urinary symptoms, incl. pis-en-deux, trouble initiating and urinary retention • Short bowel syndrome

  5. Follow up • CT Chest at 1 year follow up showed: • 14mm LLL lesion • L) hilar and aortopulmonarylympadenopathy • These areas were shown to be intensely avid on FDG-PET • CT Abdo at this time showed (non-avid): • Small calcified opacities • Bulky L) adrenal, nil definite mass • 2x small mesorectal nodes

  6. Biopsy • EBUS and biopsy was undertaken • Results: • Poorly differentiated adenocarcinoma • Signet ring morphology • TTF1 and CK7 +ve • CK20 and CDX2 –ve • This IHC is consistent with primary lung adenocarcinoma

  7. Signet ring cells

  8. Initial treatment of the Lung Ca • Not resectable • RT to the chest • Complicated by severe radiation oesophagitis • Requiring 2/52 admission for IV fluid therapy • Coupled with sensitising CTx regime • Cisplatin/Etoposide

  9. Progress • Repeat PET following radiochemotherapy • Hilar nodal disease shrunk, although remained avid • New avid areas • L5 transverse process • L) adrenal • 2nd line CTx with Carboplatin/Pemetrexed

  10. Chemotherapy SEs • He is troubled by fatigue and severe stabbing headaches • Other SEs he has experienced include: • Nausea • Hiccoughs • Hot flushes • Sleep disturbance • Nosebleeds

  11. Social Hx • Lives at home with parents and older sister • Has a girlfriend • Works as a partner manager, previously full time • Now works from home when able • Father has not been formally diagnosed with Lynch syndrome • Others in the family are considering screening • They are all extremely worried for him

  12. Social Hx (cont.) • Otherwise he is active, getting out of the house on days when he feels well enough • ECOG 1, symptoms limiting him only sometimes • Sees friends often, goes to parties, etc.

  13. Lynch syndrome • Hereditary cancer syndrome, mediated by mutation to one of several DNA mismatch repair genes • Examples include MLH1, MSH2, MSH6 and PMS2 • Phenotypically expressed as increased risk of several types of cancer (~30-50% risk), including: • Bowel • Endometrial • Ovarian • Renal pelvis TCC • No proven association with lung cancer

  14. Screening for hereditary Ca syndrome • Genetic screening based on probability of gene being found • Funded test if probability >10% • Bowel cancer at a young age alone is not necessarily enough to score a test • FHx feature typical of a hereditary syndrome: • Multiple cancers in the family • Young age at onset of cancer • Multiple cancers in the same individual • In Lynch, tumour typing may involve tests for MMR and MSI, which detects additional cases

  15. Bowel Ca screening Population Lynch syndrome Colonoscopy every 1-2 years from 25 years, or 5 years from earliest diagnosis in the family - Cancer Council guidelines (2008) Average risk individuals: • FOBT funded at 50, 55, 60 and 65 years • Recent budget included provisions for 2 yearly FOBT for those aged 50-74, to be phased in by 2020 Moderate risk individuals: • 5 yearly colonoscopy from age 50 or 10 years before earliest diagnosis in the family High risk individuals: • Consider referral to a family cancer clinic Screening for other cancers associated with Lynch may be indicated, i.e. haematuria/urine cytology

  16. Cancer prophylaxis in Lynch • Aspirin 600mg d (CAPP2 trial) • Highly significant decreased risk of cancer vs. potato starch • No significant difference in adverse events while on aspirin • Surgical prophylaxis • Total colectomy • Hysterectomy + salpingoophrectomy

More Related