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An unusual cause of lower gastrointestinal bleeding

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1 An unusual cause of lower gastrointestinal bleeding
Dr. Lee Hing Yin Harry Queen Elizabeth Hospital 8th November 2014 Joint Hospital Surgical Grandround

2 F/47 History of left ovarian dermoid cyst with left salpino- oopherectomy performed before in private Otherwise no significant past health On & off per-rectal bleeding since Dec 2013 Seen GOPC with some treatment given but symptoms persist Emergency admitted in Jan 2014 for PR bleeding with fresh blood

3 No report of red flag symptoms
Upon admission she was stable and afebrile Examination unremarkable. No anorectal lesion. Haemoglobin mildly dropped from 11.1 to10.4 OGD performed showing no bleeding source Offered colonoscopy for early workup

4 Colonoscopy Feb 2014 2cm hard sessile polyp with stony hard consistency at sigmoid colon Wide base and decided not for polypectomy Biopsy taken


6 Biopsy result Summary pathology: no evidence of malignancy
Microscopic examination: A piece of intestinal mucosa and a piece of inflamed mucosa covered by stratified squamous epithelium ? Squamous metaplasia covering an underlying lesion

7 Colonoscopy March 2014 Scope to tumour
Pedunculated tooth-like lesion at 28-30cm Biopsy taken from the base of lesion SPOT injected distal to the lesion

8 Biopsy result Microscopic examination
Multiple inflamed mucosa covered by stratified squamous epithelium with keratinization Vacuolated cells seen, suggestive of sebaceous cells In view of known history of bilateral dermoid cyst of ovaries, teratoma is a ddx Another ddx: underlying lesion with squamous metaplasia

9 Computer tomography At least 3 small calcified nodular crown-like inside lumen of sigmoid colon No obvious extra-luminal soft tissue mass seen No enlarged intra-abdominal lymph node No ascites


11 Laparoscopic surgery (27.3.2014)
Right ovary dermoid ovarian cyst wrapping around sigmoid colon, tightly adhered and unable to simply dissecting out Gynaecologist was on-table consulted with right salpingo- oopherectomy performed Colorectal surgeon performed laparoscopic sigmoidectomy En-bloc resection of sigmoid and right ovary

12 Extra-luminal view

13 Intra-luminal view

14 Pathology Mural polypoid mass harbouring three teeth
Part of the ovary and colonic wall is involved by mature cystic teratoma (a.k.a. dermoid cyst). Teratoma containing teeth, adipose tissue, epidermis and sebaceous gland No cellular atypia No immature component Resection complete and margins were clear

15 Literally a case of “Tooth bleeding” or “Gum bleeding"
No recurrence of PR bleeding post-op She was referred to gynaecologist for further follow up afterwards

16 First encounter of such presentation
Ovarian teratoma by itself is not uncommon Colonic teratoma / involvement is extremely rare

17 Colonic teratoma Review of literature

18 Teratoma is one of the germ cell tumour

19 How do they arise? “Wandering germ cell theory”
During embryogenesis (4-6 weeks), toti- potent primordial germ cell migrates from yolk sac to the gonads via dorsal mesentry of the hindgut. Sequestration of stem cell can be possible during migration along the pathway. This is to explain the potential pathophysiology of germ cell tumour being extra-gonadal

20 Undifferentiated germ cell
Histological classification reflects the degree of differentiation of cells before they degenerate malignantly Primordial germ cell Dysgerminoma Undifferentiated germ cell Embryonal carcinoma Differentiation Extra-embryonic Intra-embryonic yolk sac tumour mature teratoma choriocarcinoma immature teratoma

21 Background of teratoma
Differentiated form of germ cell tumour Can differentiate into different germ layers (endoderm, ectoderm, mesoderm) Potentially composed of one or more germ layer, can be mono-dermal or poly-dermal

22 Grading / degree of differentiation of teratoma
Depend on degree of differentiation Can be classified into mature (80%), immature (16%) and teratoma with malignant transformation (4%) Sometimes tissue differentiation can be very specialised and form e.g. hair, tooth, eyeball, skin, bone, muscle Ectoderm: neuroglia, ganglion, keratinized stratified squamous epithelium, epidermis, hair, sebaceous, apocrine sweat gland, choroid, melanin-pigment Endoderm: bronchus, liver, thyroid, pancreas, salivary gland Mesoderm: smooth muscle fibre, vessel, fibrous tissue, adipose tissue, cartilage, bone, ciliated epithelium Dermoid cyst - usually refers to mature teratoma of ovaries but can apply to other sites, a special form of mature teratoma in which ectodermal tissue predominates

23 Location of lesion Appear most commonly in gonads and rare in other sites Extra-gonadal site being rare but potential sites included: anterior mediastinum, retro-peritoneum, central nervous system e.g. pineal gland, sacro-coccygeal

24 GIT teratoma GIT (gastro-intestinal tract) being the extra-gonadal site is extremely rare Can either be primary (arise de-novo inside bowel, congenital) or secondary (acquired, complicating from teratoma of other sites e.g. ovarian teratoma fistulating into colon) Secondary will be commoner than primary teratoma Upon literature search, in English literature, total cases reported difficult to ascertain, but certainly around 100 cases were reported since 1850 Most are isolated case reports, not even up to case series

25 GIT teratoma Primary (Congenital) Anorectal teratoma
Ileo-cecal teratoma As the totipotent cell moves along dorsal mesentery of hindgut, this explains why teratoma usually affects distal bowel Secondary From ovarian teratoma (as intra-abdominal and also in proximity to bowel loops)

26 GIT teratoma Primary (Congenital) Anorectal teratoma
Ileo-cecal teratoma As the totipotent cell moves along dorsal mesentery of hindgut, this explains why teratoma usually affects distal bowel (terminal small bowel + large bowel) Secondary From ovarian teratoma (as intra-abdominal and also in proximity to bowel loops)

27 Secondary colonic teratoma Background of Ovarian teratoma
Ovarian teratoma accounts for 10-20% of all ovarian tumour, not an uncommon disease United states - 5 cases per 100,000 population No racial predisposition is evident Age of presentation is wide (10-70years), but majority belongs to reproductive age Up to 90% of ovarian teratoma is mature type i.e. benign, in the form of dermoid cyst

28 up to 15% can be bilateral disease Slow growing tumour
One prospective analysis focusing on the growth rate suggest it is 1-2mm/year for pre-menopausal women. Zero growth rate was observed in post- menopausal women. Potential explanation is due to hormonal triggering of sebum secretion in dermoid cyst. In the setting of colonic involvement, average size on presentation is 7cm Fertil Steril Sep;68(3):501-5.

29 Proposed pathogenesis of penetration into colonic wall
Iatrogenic e.g. implantation of ovarian tissue into colonic wall during intra-abdominal operation Repeated acute / chronic local infection or inflammation between ovaries and colonic walls (e.g. diverticulum) resulting in fistulation Fibrosis and macrophages infiltration (foreign body reaction) were evident as quoted in some study, suggest the underlying presence of chronic inflammatory process. In the setting of malignant transformation, local invasion is possible

30 Variety of presentation
Mostly involve gynaecologist in the first place Presentation that may involve surgeon includes: Acute abdomen e.g complication with rupture, perforation, torsion, infection that may mimic surgical pathology Complication of ovarian dermoid cyst is torsion (30%) Rupture is rare (<1%), as dermoid cyst is not a thin cyst and is well capsulated Penetration / fistulation into other organs e.g. rectum / colon / bladder that cause symptoms Abdominal mass Chronic abdominal pain Bleeding is less common

31 No specific investigations
X-ray may review calcification in para-axial region of pelvis No tumour marker Biopsy with stratified squamous mucosa will alarm the possibility of teratoma component Squamous histology in colon is rare Differential diagnosis of squamous histology in colon Adenoma with squamous metaplasia Squamous cell carcinoma (associated with ulcerative colitis, post- RT) Adeno-squamous carcinoma

32 Usually SCC will be the more common malignant transformation
Small risk of malignant transformation with subsequent invasion + fistulation into other organ (<1%) Usually associated with post-menopausal status, rapid growth in size and large size >6cm Usually SCC will be the more common malignant transformation Poor prognosis and if stage 2 and above 5-year survival of stage 2 disease 33.8% Prince of Wales Hospital reported one extreme rare case of gas-filled abdominal mass in F/85 caused by malignant transformation of an pre-existing ovarian teratoma into SCC and fistulated to the sigmoid colon World J Gastroenterol 2011 August 28; 17(31): Image captured from the journal

33 Management Treatment modality varied
For benign disease pre-menopausal, resection en-bloc with involved organ + preserved fertility is the main goal Advocate TAH-BSO in post-menopausal women During operation, spillage has to be avoided due to marked chemical peritonitis In pathology report, look out for immaturity of tissue (immature type) or any malignant atypic cells (malignant transformation) in which formal staging / chemotherapy may be needed.

34 Prognosis theoretically we expected complete cure after surgery if benign
From literature, because of rarity of cases and lack of long term follow-up. Reported no recurrence up to 5 years.

35 GIT teratoma Primary (Congenital) Anorectal teratoma
Ileo-cecal teratoma As the totipotent cell moves along dorsal mesentery of hindgut, this explains why teratoma usually affects distal bowel (terminal small bowel + large bowel) Secondary From ovarian teratoma (as intra-abdominal and also in proximity to bowel loops)

36 Anorectal teratoma Only 51 cases in English literature reported between All cases located within 15cm of anal verge i.e. termed anorectal teratoma and in the form of cystic lesion DDx of cystic lesion around rectum: Developmental cyst e.g. epidermoid, tailgut, duplication cyst. Others including sacrococcygeal teratoma, sacral meningocele, anal duct cyst, necrotic rectal leiomyosarcoma, cystic lymphangioma, pyogenic abscess, sacral chordoma, TB

37 Congenital nature Both can occur neonatally (pre-natal USG may be able to pick up if large) and in adults. Age of presentation varies (6-73yr in adult series) Majority female patient (98%). Only one male.

38 Presentation usually involve pressure symptoms or bowel symptoms
In theory, can arise from any layer of the rectum. In case reports with documented EUS findings, lesion usually arise from muscularis propia or submucosa Majority of cases, structurally-wise: Solitary Pedunculated and protruding Can have hair, tooth, finger-like projection Located at anterior wall of rectum Usually sizeable on presentation, smallest 2cm on 1st medical attention up to occupying whole pelvic space

39 Macroscopically and microscopically confined within rectum, with well preserved tissue plane and encapsulated Biopsy showing squamous epithelium is strong indicator of teratoma No specific features on imaging

40 Most are thought to be benign
Rarity of cases and lack of long term follow-up, malignant risk difficult to ascertain Some case reports and series, estimated rate can be up to 15% malignant risk

41 Treatment will aim for margin-clear resection
Some case reports advocated endoscopic removal if tumour pedunculated and reported no recurrence (Follow-up up to 3 years, mind that the layer of tumour arising is likely submucosal or beneath) For more externally located lesion, need surgical resection depending on anatomy.

42 Ileocecal teratoma Total reported case in literature <10 since 1850
Can only acquire 2 case reports concerning ileocecal involvement Take the form of mesenteric cyst Peri-appendiceal dermoid cyst causing RLQ pain + partial IO; requiring small bowel resection + anastomosis. Bilateral ovaries normal Dermoid cyst involving the cecal mesentry required laparoscopic enucleation.

43 Summary Overall colonic teratoma is rare disease entity
More common presentation involving surgeon will be female with dermoid cyst complications with adjacent organ involvement Stratified squamous mucosa is a signature of disease on biopsy, especially if you can see specialised tissue e.g. hair, tooth Most benign cases can be surgically cured with en- bloc resection

44 Thank you!

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