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Biopsy (forceps, incisional): histologic confirmation of malignancy and subtype most notably distinction between SCC and
adenocarcinoma (rectum, anal glands).
HIV testing.
Anoscopy/proctoscopy: assessment of rectum for concomitant diseases (eg, STD proctitis)?
Females: GYN exam and assessment for concomitant cervical/vaginal pathology.
Staging: CT scan of abdomen and pelvis with inclusion of chest, or separate chest x-ray.
Full/partial colonic evaluation as per general screening guidelines and prior to any planned intervention (Note: anal cancer is
not associated with an increased risk of colorectal cancer).
ADDITIONAL TESTS (OPTIONAL)
Blood work: CBC (anemia?), liver function (albumin, PTT, PT), kidney function.
Anorectal ultrasound: role not completely defined
evaluation of tumor size, depth of penetration, sphincter involvement,
mesorectal lymph nodes.
Fine-needle aspiration or core biopsy of enlarged inguinal lymph nodes.
MRI, PET, PET-CT: role not yet defined in primary assessment unless tumor locally advanced.
CLASSIFICATION
Anal cancer: involvement of anal canal.
Anal margin cancer staged and treated as "skin cancer."
Nonoperative Treatment
Anal cancer:
Nigro protocol (some variation of protocols): chemoradiation with 45–59 Gy in conjunction with 5-FU and mitomycin
C.
Alternative: chemoradiation combined with 5-FU and cisplatin: particularly in HIV-positive parients.
Incidental carcinoma or carcinoma in situ pathology specimen (eg, excision of condylomata, hemorrhoidectomy) with clinically
no residual tumor:
Watchful waiting with frequent clinical examination (vs reexcision of scar).
Alternative: Nigro protocol (as above).
Operative Treatment
INDICATIONS
Local tumor:
Anal SCC (including subtypes):
– Residual tumor after completion of Nigro protocol.
– Inability to tolerate chemoradiation (including noncompliance).
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– Recurrent tumor after initial complete clinical response.
– Treatment-refractory, inoperable but highly symptomatic tumor.
Adenocarcinoma: after neoadjuvant chemoradiation.
Perianal (anal margin) SCC: treatment as for skin cancer.
Buschke-Lowenstein tumor.
Regional lymph node manifestation: lymph node dissection not routinely performed, only for isolated inguinal nodal disease.
Long-term sequelae of tumor or tumor treatment:
Stricture.
Radiation proctitis.
Nonmanageable fistula.
Incontinence.
Tumor infiltration with pain.
OPERATIVE APPROACH
Curative intent:
Abdominoperineal resection, if necessary with en-bloc resection of involved organs (vagina, bladder).
Same as above, but with inguinal lymphadenectomy (involvement = poor prognostic sign): radical lymphadenectomy
or excision of enlarged nodes only ("cherry picking").
Inguinal lymphadenectomy alone: regional lymph node recurrence with primary tumor in remission.
Perianal (anal margin) cancer: local excision with negative margins.
Diagnostic intent:
Not established diagnosis: incisional (rarely excisional) biopsy.
Exam under anesthesia, incisional/excisional or TruCut biopsies distinction between residual tissue induration vs
persistent tumor.
Palliation: creation of colostomy.
Outcome
Complete clinical response to combined modality treatment (80–90%): 5-year survival 65–75%.
Residual disease after CMT (10–15%): 5-year survival 45–60%.
Locally recurrent disease (10–30%): 5-year survival 0–35%.
Probability of colostomy (due to persistent/recurrent disease or treatment sequelae: anorectal dysfunction, stenosis): 25–
40%.
HIV-positive patients: worse outcome, lower tolerance to chemoradiation, increased treatment-related toxicity (80% vs
30%), fewer complete response (62% vs 85%), shorter time to death (1.4 vs 5.3 years).
Follow-Up
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Oncologic follow-up:
Clinical examination and blood work: every 3–6 months.
Imaging (CT abdomen/pelvis, chest x-ray/-CT): at least every 12 months.
Surgical reintervention for metastatic disease: benefit-risk analysis of surgery as opposed to more chemotherapy
with/without radiation dependent on individual circumstances.
Cross-Reference
Lump or mass (Ch. 1)
Skin rash (Ch. 1)
Sexually Transmitted Diseases (STDs, 091, 098, 099) (Ch. 4)
Anal intraepithelial neoplasia (AIN, 235.5) (Ch. 4)
Bowen disease (235.5) (Ch. 4)
Colorectal Cancer–Rectal Cancer (154.1) (Ch. 4)
Anorectal flaps (Ch. 5)
Abdominoperineal resection (APR) (Ch. 5)
Combined modality treatment protocol—anal cancer (Ch. 6)
Tumor staging in TNM system (App. 2)
POLYPS (211.3)
Overview
Polyp represents a descriptive term for any mucosal elevation. Characterization of polyps is based on:
Degree of attachment to bowel wall (eg, pedunculated, sessile, flat).
Pathologic nature (eg, hyperplastic, hamartomas or adenomas).
Histologic appearance (eg, tubular, tubulovillous, villous).
Neoplastic dignity (ie, benign, malignant).
Adenomatous and large serrated form of hyperplastic polyps are potentially malignant, whereas nonadenomatous polyps (eg,
hyperplastic, hamartomatous, or inflammatory polyps) are benign. The adenomatous transition from benign to cancerous to
some degree is paralleled by the increase in size (advanced adenoma: > 1 cm) and varying degrees of dysplasia: once
dysplastic cells cross the boundaries of the mucosa (basement membrane) and start to invade the submucosa, a true cancer
(carcinoma) with the potential to metastasize is established.
Nonepithelial polyps include lipoma and other mesenchymal lesions.
Epidemiology
Incidence: at least 1 polyp in 25–40% of average-risk persons 50 years. Distal polyps = indicators 5 times higher risk for
more proximal lesions; > 50% of proximal advanced adenomas do not have distal polyps.
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Presence of adenomatous polyps 2–4 times higher risk of metachronous polyps (compared with absence of polyps). Repeat
colonoscopy after 1–3 years 3–5% advanced adenomas.
Symptoms
Polyps (regardless of pathology) most commonly asymptomatic; larger polyps bleeding, anemia, lead point for
intussusception, obstructive symptoms; large villous adenoma mucus drainage, electrolyte imbalances.
Differential Risk Assessment
Adenomatous polyps cancer risk: villous > tubulovillous > tubular; size: < 1 cm 3–9%, 1–2 cm 10%, > 2 cm 30–
50%.
Hyperplastic polyps: no increased cancer risk, except for large serrated polyps.
Serrated adenoma: intermediate pathology between hyperplastic and adenomatous polyp
dysplasia and risk of cancer.
Hamartomatous polyps: no increased risk from the polyp itself, but potentially an indicator for otherwise increased risk
polyposis syndromes.
Inflammatory polyps: no increased risk of the polyp itself, but chronic inflammation (ulcerative colitis, Crohn disease)
increased cancer risk (often without polypoid mass).
Pathology
Adenomatous Polyps
At least low-grade dysplasia (by definition) high-grade dysplasia if presence of irregular branching, back-to-back glandular
and cribriform structures, loss of polarity, frequent mitosis:
Tubular adenoma: packed epithelial tubules with largely preserved basoapical cell differentiation and narrow stroma
some distortion, hyperchromic nuclei, mitotic figures rare.
Tubulovillous adenoma: combination of tubular and villous components.
Villous adenoma: > 80% long finger-like projections.
Nonadenomatous Polyps
Hyperplastic polyps: 2–5 mm, most frequently in rectosigmoid, often multiple; crypt elongation, loss of columnar and
goblet cell regularity
papillary or serrated appearance, moderate chronic inflammatory cells.
Hamartomatous polyps: non-neoplastic, incorrect combination of tissue components "Swiss cheese" pathology:
mucus-filled cystic spaces, connective tissue with acute and chronic inflammatory cells.
Inflammatory polyps (pseudopolyps).
Evaluation
REQUIRED MINIMAL STANDARD
Colorectal cancer screening and surveillance (per guidelines).
Diagnostic colonic evaluation for symptomatic patients.
Histopathology of resected/biopsied polyps
guidance for repeat testing.
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ADDITIONAL TESTS (OPTIONAL)
Genetic counseling/testing if familial clustering or patient at young age.
Classification
Haggitt classification for cancerous polyps description of tumor invasion in pedunculated or sessile polyp:
Pedunculated polyps:
– Level 1: invasion limited to the head.
– Level 2: invasion to the neck.
– Level 3: invasion into the stalk.
– Level 4: invasion to the base, ie, submucosa at the level of the bowel wall
10% risk for lymph node
metastases (like other T1 cancers).
Sessile polyps all lesions are level 4 (as above), additional level of submucosal invasion (Kudo classification: levels
Sm1, Sm2, Sm3).
Nonoperative Treatment
Endoscopic polypectomy and surveillance.
Chemoprevention: COX inhibitors, calcium, ASA
up to 35–45% reduction of metachronous polyps.
No benefit of oncologic resection: complete removal (snared in one piece) of cancerous polyp Haggitt levels 1, 2, and 3, well
differentiated, no lymphovascular invasion, > 2 mm margin.
Operative Treatment
INDICATIONS
Any polyp that is not amenable to endoscopic removal (unless prohibitive contraindications).
Cancerous polyp with invasion into submucosa (Haggitt level 4, deep invasion into level Sm3), < 2 mm margin or
piecemeal excision, unfavorable histology (poor differentiation, lymphovascular invasion).
OPERATIVE APPROACH
Colon polyp: colonoscopic tattooing of target site laparoscopic vs. open segmental resection (satisfying oncologic
criteria) with primary anastomosis.
Rectal polyp:
– Transanal excision or transanal endoscopic microsurgery (TEM).
– Low anterior resection (LAR).
Outcome
Colonoscopic polypectomies: reduction of cancer incidence by 76–90% (compared with expected historic rates). Risk of
complications from polypectomy: perforation 0.1–0.3%, bleeding 0.5–3%.
Follow-Up
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Schedule for follow-up colonoscopies per guidelines.
Cross-Reference
Bleeding per rectum (Ch. 1)
Discharge (Ch. 1)
Colorectal cancer screening/surveillance (Ch. 2)
Colonoscopy (Ch. 2)
CT colonography ("virtual colonoscopy") (Ch. 2)
Carcinogenesis (Ch. 3)
Polyposis syndromes (211.3, 235.2) (Ch. 4)
Colorectal cancer—colon cancer (153.X) (Ch. 4)
Chemoprevention of colorectal cancer (Ch. 6)
Amsterdam II criteria for HNPCC (App. 2)
Bethesda criteria for MSI testing (App. 2)
POLYPOSIS SYNDROMES (211.3, 235.2)
Overview
Polyposis syndromes are characterized by the presence/development of numerous polyps in various parts of the GI tract, but
frequently involve other manifestations. Some invariably lead to malignant transformation of the polyps and the development
of cancer (eg, FAP, AFAP); other syndromes have polyps that remain benign and do not pose a direct cancer risk but may be
an indicator of an increased risk for other intestinal or extraintestinal tumors.
FAMILIAL ADENOMATOUS POLYPOSIS (FAP, AFAP)
Phenotype: multiple adenomatous polyps throughout the colon, periampullary duodenal polyps, gastric polyps,
extracolonic manifestations (desmoids, etc).
Genetics: autosomal dominant, near complete penetrance.
Gene location: adenomatous polyposis coli (APC) gene on chromosome 5q21.
Natural course: nearly 100% colon cancer by age 40–45, 3–12% periampullary carcinoma.
Associated malignancies: colon cancer, pouch cancer, periampullary adenocarcinoma, desmoid, thyroid cancer.
Variants:
– Gardener syndrome: osteomas, desmoid tumors, thyroid neoplasms, congenital hypertrophy of the retinal
pigment epithelium.
– Turcot syndrome: brain tumors.
– Attenuated FAP (AFAP): later presentation, more proximal polyp distribution.
MYH- ASSOCIATED POLYPOSIS (MAP)
Phenotype: often indistinguishable from FAP, except for slightly lower number of adenomatous polyps throughout the
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colon; extracolonic manifestations are present but less frequent than FAP: upper GI tract polyps ( periampullary
cancer), osteomas, dental abnormalities, CHRPE, etc.
Genetics: autosomal recessive, near complete penetrance.
Gene location: base excision repair gene MYH, chromosome 1p34-32.
Natural course: diagnosis of MAP around age 50, nearly 100% colon cancer by age 65.
Associated malignancies: colon cancer, periampullary adenocarcinoma, breast cancer, thyroid cancer.
Counseling: both parents and all children are gene carriers.
PEUTZ-JEGHERS SYNDROME
Phenotype: hamartomatous polyps of the GI tract, particularly upper GI tract, cutaneous melanin deposits (eg,
perioral, buccal mucosa, etc).
Genetics: autosomal dominant, variable penetrance.
Gene location: LKB1/STK (chromosome 19p13), and other genes.
Natural course: majority of patients asymptomatic, rarely obstructive symptoms or bleeding.
Associated malignancies: moderately increased risk of GI and extraintestinal malignancies.
JUVENILE POLYPOSIS SYNDROME
Phenotype: hamartomatous polyps, 15% associated with congenital birth defects.
Genetics: autosomal dominant.
Gene location: BMPR1A or SMAD-4 gene (chromosome 18q21), and other genes.
Natural course: average age of onset 18 years, polyps most frequently in rectosigmoid region; variable symptoms:
GI bleeding, intussusception, rectal prolapse, protein-losing enteropathy.
Associated malignancies: significant risk of colorectal cancer.
Diagnostic criteria: three juvenile polyps, polyposis involving entire GI tract, or any number of polyps but known
family history of juvenile polyps.
Caveat: isolated juvenile polyps without malignant potential.
COWDEN SYNDROME
Phenotype: multiple hamartoma-neoplasia syndrome from ectodermal and less from endodermal elements:
tricholemmoma 80%, macrocephaly 40%, GI polyposis only in 35%, benign thyroid or breast disease.
Genetics: autosomal dominant, nearly complete penetrance.
Gene location: PTEN tumor suppressor gene, chromosome 10q23.
Natural course: symptomatic by age 20 years.
Associated malignancies: no increased risk of GI malignancy, 10% thyroid cancer, 30–50% breast cancer.
BANNAYAN-RILEY -RUVALCABA SYNDROME (FORMERLY RUVALCABA -MYHRE-
SMITH SYNDROME)
Phenotype: excessive growth before/after birth, macrocephaly, mental and psychomotor retardation, and other
abnormalities; multiple hamartomatous polyps in GI tract; lipomas; genital pigmented macules.
Genetics: autosomal dominant, nearly complete penetrance.
Gene location: PTEN tumor suppressor gene, chromosome 10q23.
Natural course: pediatric counterpart to Cowden syndrome.
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Associated malignancies: no increased risk of colorectal cancer, or any other GI or extraintestinal malignancy.
CRONKHITE-CANADA SYNDROME
Phenotype: diffuse polyposis throughout entire GI tract (except esophageal sparing), ectodermal abnormalities (eg,
alopecia, onychodystrophy, skin hyperpigmentations).
Genetics: autosomal dominant.
Gene location: PTEN tumor suppressor gene, chromosome 10q23.
Natural course: diarrhea, protein-loosing enteropathy, weight loss, nausea, vomiting, anorexia, paresthesias,
seizures and tetany related to electrolyte abnormalities.
Associated malignancies: increased risk for cancer of stomach, colon, and rectum (15% with malignant tumor at time
of diagnosis).
HYPERPLASTIC POLYPOSIS SYNDROME
Phenotype: multiple hyperplastic polyps throughout entire colon and rectum, including large polyps (> 1 cm) and
location proximal to sigmoid colon.
Genetics: unknown.
Gene location: unknown.
Natural course: average age 50–70 years, no specific symptoms.
Associated malignancies: increased risk for colorectal cancer, proximal > distal.
NODULAR LYMPHOID HYPERPLASIA
Phenotype: multiple lymphoid polyps throughout entire colon and rectum.
Genetics: unknown.
Gene location: unknown.
Natural course: children and adults, no specific symptoms, occasionally associated with immunodeficiency disorders.
Associated malignancies: no increased risk for colorectal cancer.
ADDITIONAL TESTS
Genetic counseling and testing individual and family risk assessment.
Cross-Reference
Colorectal cancer screening/surveillance (Ch. 2)
Colonoscopy (Ch. 2)
CT colonography ("virtual colonoscopy") (Ch. 2)
Carcinogenesis (Ch. 3)
Polyps (211.3) (Ch. 4)
Familial adenomatous polyposis (FAP; 211.3, 235.2, V84.09) (Ch. 4)
Hereditary nonpolyposis colon cancer (HNPCC, 153.8, V84.09) (Ch. 4)
Colorectal cancer—colon cancer (153.X) (Ch. 4)
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(Sub-)Total colectomy/ileorectal anastomosis (open) (Ch. 5)
Proctocolectomy, ileal J-pouch anal anastomosis (open) (Ch. 5)
Chemoprevention of colorectal cancer (Ch. 6)
Amsterdam II criteria for HNPCC (App. 2)
Bethesda criteria for MSI testing (App. 2)
FAMILIAL ADENOMATOUS POLYPOSIS (FAP; 211.3, 235.2, V84.09)
Overview
FAP is an autosomal dominant inherited syndrome with near complete penetrance in forming benign and malignant colonic
and extracolonic tumors. Caused by a germline mutation in the adenomatous polyposis coli (APC) gene on chromosome 5q21
which results in transcription of truncated/nonfunctional protein instead of tumor-suppressing APC protein. Phenotype varies
depending on exact location of APC mutation. Affected patients develop > 100, often several thousand, adenomatous
intestinal polyps, starting at young age (early teens to early 20s), with nearly 100% probability of developing colorectal
cancer (CRC) by age 40–45 years unless prophylactic surgery is performed. Attenuated variant of FAP (AFAP) with lower
number of polyps, later onset of resulting cancer, often rectal sparing.
Extracolonic manifestations:
Duodenal adenomas in > 80% of FAP patients; periampullary adenocarcinoma in 3–12% of FAP patients = second
most frequent cancer in FAP, main cause of cancer-related death (since colorectal cancer [CRC] risk is eliminated by
prophylactic surgery).
Desmoids: locally invasive/expansive proliferation of fibromatous tumors affecting 10–15% of FAP patients (majority
after surgical trauma); familial pattern
leading cause of death in FAP patients (ureteral and SBO, inability to perform
other necessary surgeries); specific sites of APC mutations associated with increased desmoid risk.
Gastric fundic gland polyps: in 30–60% of FAP patients, nonadenomatous nature, no malignant potential.
Congenital hypertrophy of the retinal pigmented epithelium (CHRPE): most common extracolonic manifestation of FAP
(60–85% of patients with FAP): bilateral benign pigmented hamartomas; no clinical significance; 95% specific as
cheap, noninvasive screening test in families with FAP.
Papillary thyroid cancer: 1–2%, especially in younger women.
Hepatoblastoma: uncommon tumor in children with FAP.
Epidemiology
Less than 1% of all CRC, 1 in 7000–10,000 live births; 70–80% are truly inherited (even if positive family history not always
evident), 20–30% are new germline mutations.
Symptoms
Negative family history: symptoms from growing and increasingly numerous polyps/cancer: bleeding, urgency, colorectal
cancer at young age, potentially extracolonic manifestations (osteomas, dental malformation, retinal hyperpigmentation).
Positive family history: diagnosis and prophylactic treatment before symptoms!
Differential Diagnosis
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Other types of hereditary cancers: HNPCC (autosomal dominant), MAP (homozygous recessive).
Familial CRC without identifiable gene mutation.
Nonadenomatous polyposis, eg, hyperplastic polyposis.
Diffuse lymphoid hyperplasia.
Pathology
Macroscopic: > 100 polyps throughout the colon, starting as small sessile polyps, increasing in size.
Microscopic: adenomatous polyps.
Evaluation
REQUIRED MINIMAL STANDARD
All Patients
Identification/management of family members at risk: chart documentation that patient was counseled and informed about
this aspect (caveat: litigation!).
Biopsy confirmation of adenomatous nature of polyps.
EGD: baseline endoscopy in early 20s, subsequent frequency depending on findings.
Asymptomatic Patient/Family Members with Positive Family History
Family history, genetic counseling/testing (unless already done).
Annual colonoscopy starting at age 12–14 years, removal of larger polyps.
Screening for other extracolonic cancers: EGD (bi-)annually.
At age 15–25 years or if already diagnosed with cancer or large/high-grade polyps
surgery.
Patients with CRC and Multiple Synchronous Polyps
Diagnosis: rigid sigmoidoscopy or flexible endoscopy + biopsy multiple adenomatous polyps.
EGD: upper GI involvement?
Family history.
Genetic counseling/testing.
Individual workup as for sporadic CRC
surgery.
ADDITIONAL TESTS (OPTIONAL)
Same as for CRC.
Genetic testing.
Thyroid ultrasound.
Classification