Introduction
Familial adenomatous polyposis (FAP) is caused by a germline mutation in the tumor
suppressor gene, adenomatous polyposis coli, and accounts for approximately 1 % of
all colorectal cancers (CRCs) [1].
Most surgically untreated patients with FAP develop CRC in their lifetime. Prophylactic
extended colectomy, subtotal colectomy with ileorectal anastomosis (IRA), or proctocolectomy
with ileal pouch-anal anastomosis (IPAA) may be indicated. However, some patients
refuse to undergo surgery because they are generally asymptomatic when diagnosed and
removal of the large bowel affects their quality of life because of frequent diarrhea
or loss of fecundity in women [2].
Endoscopic surveillance with polyp removal has been used to prevent development of
CRC in patients with FAP. Recently, various polyp removal devices have appeared that
have effectively shortened the duration of polypectomy, which has been beneficial
for avoiding surgery [3]. However, the intervention for patients with FAP with advanced CRC is uncertain;
therefore, extended colectomy is supposed to be performed [4].
Here, we report that FAP is controllable with laparoscopic partial resection and postoperative
polypectomy even when it is complicated by advanced CRC.
Case report
A 39-year-old Japanese woman presented with abdominal pain and diarrhea that had persisted
for a month. She also experienced vomiting and hematochezia on the day of the visit.
Her medical history was unremarkable. However, her father and older sister had been
diagnosed with FAP and had undergone proctocolectomy with IPAA for adenocarcinoma
of the sigmoid colon with polyposis. On physical examination, there was tenderness
in the lower abdomen and the woman’s body temperature was 36.5 °C. Laboratory tests
were negative for anemia and tumor markers. On the other hand, abnormal glucose tolerance
was revealed (blood sugar level 330 mg/dL, HbA1c 7.2 %). Enhanced computed tomography
(CT) scan showed thickness of the sigmoid colon wall, but no lung or liver metastases
were detected. Colonoscopy showed a nearly obstructing tumor in the sigmoid colon
and polyposis ([Fig. 1a], [Fig. 1b], [Fig. 1c]). Using a miniature endoscope to pass the tumor and observe to the cecum, we detected
approximately 100 polyps (20 in the rectum). Cytology of the tumor showed well-differentiated
adenocarcinoma. Esophagogastroduodenoscopy showed many fundic gland polyps from the
fornix to the upper body of the stomach ([Fig. 2]). Based on the patient’s clinical course and family history, she was subsequently
diagnosed with advanced sigmoid colon adenocarcinoma because of attenuated FAP (aFAP).
We also performed thyroid ultrasound and positron emission CT to exclude extracolonic
manifestations such as desmoid tumors. At first, proctocolectomy with IPAA was considered
to cure both the tumor and the polyposis, but the patient refused surgery because
she wished to keep working full time and bear children. Therefore, we decided to perform
laparoscopic partial sigmoidectomy for treatment of the adenocarcinoma, followed by
endoscopic polypectomy to control the burden of polyposis. Laparoscopic surgery was
performed with five ports, and D3 lymph node resection was accomplished as well. Transanal
anastomosis was performed with an EEA stapler with DST Series Technology 25 mm (Medtronic,
Minneapolis, Minnesota, United States). Postoperative polypectomy was mainly performed
by cold snare polypectomy (CSP) with PCF-H 290 (Olympus, Japan) and CAPTIVATOR II
Single-Use Snare (Boston Scientific, Marlborough, Massachusetts, United States) ([Fig. 3a] and [Fig. 3b]). We resected approximately 100 polyps during five procedures (average duration
of procedure, 31 min; range, 22 – 45 min) without any complications such as postoperative
bleeding or perforation. The number of polyps has been decreasing under our periodic
endoscopic procedures and almost all the polyps were diagnosed with adenoma pathologically.
In addition, eight courses of capecitabine (oral; 1250 mg/m2 twice daily for 2 weeks) were administrated based on the pathological findings of
the adenocarcinoma: pT3N1M0 stage IIIB according to the 7th Union for International
Cancer Control classification. We also administered metformin hydrochloride (oral;
500 mg twice daily) to control not only blood sugar level but also polyp burdens.
Fig. 1a Colonoscopy showed a nearly obstructing tumor in the sigmoid colon and b polyposis. c Indigo carmine stain highlighted a typical pit pattern characterized as adenomas.
Fig. 2 Esophagogastroduodenoscopy showed many fundic gland polyps from the fornix to the
upper body of the stomach.
Fig. 3 a Postoperative polypectomy was mainly performed by cold snare polypectomy (CSP). b It can be performed with submucosal infusion, if necessary.
The patient has been followed up more than 5 years without any recurrence of CRC or
increase in number of polyps. She has been working as before without any complaints.
Discussion
This case highlights two important issues. First, even when it is complicated by CRC,
FAP is controllable by laparoscopic partial resection and postoperative polypectomy,
thus delaying the need for extended colectomy. Second, CSP is a very useful and sufficient
procedure for resecting FAP polyps.
It is well known that colectomy is indicated for patients with FAP who have CRC or
adenoma with high-grade dysplasia. Generally, extended colectomy, subtotal colectomy
with IRA, or proctocolectomy with IPAA is performed, depending on the severity and
distribution of colorectal adenomas. In patients with fewer than 10 rectal adenomas,
subtotal colectomy with IRA is preferred because rectal polyps can be managed endoscopically
[5]. Other important factors to consider include risk of desmoid tumors and patient
age and comorbidities [6]. On the other hand, it has been suggested that endoscopic polypectomy can be considered
in management of aFAP, which is characterized by fewer adenomas, later age of onset
for colorectal adenomas and cancer, and decreased risk of cancer compared with typical
FAP [7]. In this case, although the patient was diagnosed with aFAP with advanced sigmoid
adenocarcinoma and proctocolectomy with IPAA was recommended because of her clinical
course, family history, and poly distribution, she strongly refused this treatment.
To the best of our knowledge, this is the first report of management of FAP with advanced
CRC with laparoscopic partial resection and postoperative polypectomy.
To resect numerous polyps effectively, two cold polypectomy techniques are available.
Cold forceps polypectomy (CFP) is safe and easy to perform without the need for special
techniques or an experienced assistant. A second option, CSP, has also been reported
to be a safe and effective for endoscopic resection of small colorectal polyps [3].
CSP has been established as an effective method for removal of diminutive and small
polyps [3]. An advantage of CSP over CFP is that capturing from one to a few millimeters of
normal mucosa surrounding the polyp is more likely to result in complete removal.
The technique also causes minimal damage to the submucosal arteries and can be performed
safely in patients taking antiplatelet agents or therapeutic levels of anticoagulants
[8]. Although there were concerns that it would be difficult to retrieve tissues with
the CSP technique, it is now known that tissue retrieval after the CSP technique is
successful more than 94 % of the time [9]. In addition, a prospective study indicated that CSP is superior to CFP for complete
histologic eradication of polyps (93.2 % vs. 75.9 %, P = 0.009) with excellent safety and acceptable tissue retrieval [10].
A retrospective review identified a large group of patients with FAP who strongly
refused to undergo colectomy [4]. These patients were managed endoscopically and underwent repeated colonoscopies
to remove numerous polyps with the aim of colon clearance. During a median follow-up
of 5.1 years, no invasive CRC was observed. Five patients had noninvasive carcinomas
that were detected within 10 months from the start of the follow-up period. All of
these patients were treated endoscopically, and they showed no signs of recurrence
during follow-up.
In the case described here, we diagnosed the patient with aFAP based on her clinical
course including family history. We didn’t check the type of genetic mutations because
health insurance in japan does not provide compensation for that testing. Approximately
100 polyps were resected by CSP, and almost all of them were completely removed with
normal mucosa surrounding the polyps in a relatively short time without any complications.
CSP can satisfy requirements for histological eradication, safety, and promptness
when dealing with huge numbers of polyps. It is essential to perform periodic colonoscopy
and polypectomy in addition to whole-body follow-up because the follow-up period may
be insufficient oncologically, and the long-term outcome is unknown. In this case,
the patient’s postoperative clinical course such as the number of polyps, subjective
symptoms, and findings in other modalities has improved during observation.
Although management of aFAP with advanced cancer by laparoscopic partial resection
and postoperative CSP is challenging, it can be an option for patients who refuse
extended colectomy.
Conclusion
Even when it is complicated by CRC, FAP is controllable by laparoscopic partial resection
and postoperative polypectomy, thus delaying need for extended colectomy. To deal
with large numbers of polyps, CSP is a very useful and sufficient procedure, satisfying
requirements for histological eradication, safety, and promptness.
