BSPGHAN 2021 Virtual Annual Meeting

27- 29 April 2021

CASE REPORT: MUCINOUS ADENOCARCINOMA OF COLON IN AN ADOLESCENT

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Angie Radford
Angie Radford
3 months ago

Many thanks for your poster and presenting this unusual case- I was wondering whether there is any underlying genetic defect making cancer more likely in this girl and also what her diet was like prior to diagnosis?

Suchandra Pande
Suchandra Pande
3 months ago
Reply to  Angie Radford

Hi Angie,
Thanks for your comment. This girl is the youngest of 4 children. There is no known underlying genetic defect in her or any of the family members although I am sure following this diagnosis, she will have further genetic investigations. She was on a normal varied diet. No history of any allergies or intolerances. Hope this answers your questions.

Anna Pigott
Anna Pigott
3 months ago

Thank, this is a diagnosis none of us would wish to be delayed, and it sounds like symptoms were difficult to spot. What symptoms did this patient present with (was it abdominal mass) and what prompted you to organise a CT? Did the patient have any other investigations first? would USS help identify the patient? Nicely presented unusual case.

Suchandra Pande
Suchandra Pande
3 months ago
Reply to  Anna Pigott

Hi, Thanks for your comment. This girl presented with 4 weeks history of feeling tired, blood in stool, on and off abdominal pain. She was admitted under Gen Paeds. Her care was transferred to me as they were suspecting IBD. At presentation her Haemoglobin was very low, 4.6. She received blood transfusion. She had abdominal ultrasound as inpatient. This was reported as, no bowel wall thickening, likely faecal loading in caecum and ascending colon. I booked OGD+ Colonoscopy. 1 week later she developed severe abdominal pain. On examination, surgical abdomen with guarding. Hence I organised the CT and requested surgical review. Hope this answers your question.

David Campbell
David Campbell
3 months ago

Thank you, I think I would also be keen to know more about the presentation and family history?
I note the oncogenetics presented. For many of us who are not familiar with this disease, due to adult predominance, what is the significance of MMR protein proficiency?

Suchandra Pande
Suchandra Pande
3 months ago
Reply to  David Campbell

Hi David, Thanks for your comment. This girl presented with 4 weeks history of abd pain, tiredness, blood in stool. She is the youngest of 4 children. There is no family history of bowel cancer or any other malignancy.
Regarding MMR protein proficiency, I understand MMR deficient CRCs have a more favourable stage adjusted prognosis compared with MMR proficient tumours.

David Campbell
David Campbell
3 months ago

Thank you that is very helpful.