Transcript Mr JS, 23yo man - Oncology Clinics Victoria

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
Malignant sigmoid polyp
(sessile serrated adenoma)
Subsequent staging investigations confirmed T1N0M0 disease
Synchronous tubular adenoma
with low grade dysplasia
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
Follow up
• CT Chest at 1 year follow up showed:
– 14mm LLL lesion
– L) hilar and aortopulmonary lympadenopathy
• 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
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
Signet ring cells
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
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
Chemotherapy SEs
• He is troubled by fatigue and severe stabbing
headaches
• Other SEs he has experienced include:
– Nausea
– Hiccoughs
– Hot flushes
– Sleep disturbance
– Nosebleeds
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
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.
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
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
Bowel Ca screening
Population
Lynch syndrome
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
• Colonoscopy every 1-2
years from 25 years, or 5
years from earliest
diagnosis in the family
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
- Cancer Council guidelines (2008)
Screening for other cancers associated
with Lynch may be indicated, i.e.
haematuria/urine cytology
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