advanced colon cancer before the age of 20 years: a case...

Can J Gastroenterol Vol 18 No 5 May 2004 319

Advanced colon cancer before the age of 20 years: A case for extension of the current

colonoscopy surveillance guidelines in hereditarynonpolyposis colorectal cancer syndromeVictor K Wong MD BSc1, Eric M Yoshida MD MHSc FRCPC FACP1, Anthony G Ryan MB ChB FRCR2,

Stephen GF Ho MD FRCP(C)2, Baljinder Salh MBChB MRCPUK FRCPC1

1Division of Gastroenterology, Department of Medicine; 2Department of Radiology, University of British Columbia, Vancouver, British ColumbiaCorrespondence: Dr Eric M Yoshida, Vancouver General Hospital, Division of Gastroenterology, 100-2647 Willow Street, Vancouver,

British Columbia V5Z 3P1. Telephone 604-875-5371, fax 604-875-5447, e-mail [email protected] for publication January 2, 2004. Accepted February 10, 2004

VK Wong, EM Yoshida, AG Ryan, SGF Ho, B Salh. Advanced

colon cancer before the age of 20 years: A case for extension

of the current colonoscopy surveillance guidelines in

hereditary nonpolyposis colorectal cancer syndrome. Can J

Gastroenterol 2004;18(5):319-320.

BACKGROUND: Hereditary nonpolyposis colorectal cancer

(HNPCC) currently accounts for between 2% to 6% of all colorectal

adenocarcinomas. Controversies exist regarding the current guide-

lines for colonoscopic screening for colon cancer.

CASE REPORT: A case of colon cancer in a young Japanese man

with a family history of colon cancer that did not meet the criteria for

HNPCC is reported. A malignant pelvic mass discovered shortly

before his 20th birthday prompted a colonoscopy. The findings at

colonscopy determined that the patient and his family fulfilled the

criteria of HNPCC.

CONCLUSION: Before finding a pelvic mass metastatic from ade-

nocarcinoma of the ascending colon, this patient was clearly outside

of the current guidelines for HNPCC screening. It is suggested that in

similar patients, even if they do not fulfill all the criteria for HNPCC,

it would be appropriate to consider screening well before the recom-

mended lower age.

Key Words: Cancer; Colon; Colonoscopy; Hereditary; Surveillance

Un cancer du côlon avancé avant l’âge de 20 ans : Un cas de prolongement des lignesdirectrices actuelles de surveillance par coloscopie en cas de cancer colique héréditairesans polypose

HISTORIQUE : Le cancer colique héréditaire sans polypose (CCHSP)

représente de 2 % à 6 % de tous les adénocarcinomes colorectaux. Il existe

une controverse quant aux lignes directrices à l’égard du dépistage du can-

cer du côlon par coloscopie.

RAPPORT DE CAS : Est présenté un cas de cancer du côlon chez un

jeune homme japonais présentant des antécédents familiaux de cancer du

côlon qui ne respectaient pas les critères de CCHSP. Une masse pelvienne

maligne découverte peu avant le vingtième anniversaire du jeune homme

a suscité une coloscopie. Les observations de la coloscopie ont déterminé

que le patient et sa famille respectaient les critères de CCHSP.

CONCLUSION : Avant la découverte d’une masse métastatique pel-

vienne causée par un adénocarcinome du côlon ascendant, ce patient ne

faisait clairement pas partie des lignes directrices actuelles du dépistage du

CCHSP. On avance que chez des patients similaires, même lorsqu’ils ne

respectent pas tous les critères du CCHSP, il serait pertinent d’envisager

le dépistage bien avant l’âge le moins élevé recommandé.

Hereditary nonpolyposis colorectal cancer (HNPCC) cur-rently accounts for 2% to 6% of all colorectal adenocarci-

nomas. The HNPCC syndrome has classically been divided intotwo subgroups based on clinical presentation: Lynch I, whichhas no history of associated cancers, and Lynch II, which canpresent along with other malignancies, including cancer of thestomach, uterus, urinary tract, small bowel and bile ducts. Infamilies with HNPCC, the mean age of diagnosis is 48 years,with some patients presenting in their twenties. Seventy percent of the lesions are proximal to the splenic flexure.

Previous recommendations for HNPCC-affected kindredswas to begin screening family members between 20 and30 years of age (1,2). More recently, the recommendationshave been revised such that colonoscopy should occur between 20 and 25 years of age. In the present article, we report a caseof colon cancer in a 19-year-old man whose diagnosis of coloncancer fulfilled the criteria for HNPCC.

CASE PRESENTATIONA 19-year-old Japanese man presented to the emergencydepartment with a complaint of transient self-limited left lowerquadrant discomfort, a brief episode of fever and an isolatedepisode of passing a small amount of blood per rectum on oneoccasion. There was no previous history of passing blood perrectum and he was otherwise well, except for a 1.8 kg weightloss. His hematological parameters were unremarkable; specif-ically, his hemoglobin was 143 g/L (normal range 135 g/L to175 g/L) with a normal mean cell volume. A flexible sigmoi-doscopy performed 20 days after his emergency departmentpresentation was unremarkable and he had not had a secondepisode of rectal bleeding in the intervening time period. Hisprevious symptoms had resolved completely. The only remark-able feature about this patient was that his mother had under-gone a right hemicolectomy 12 years previously at the age of34 years for colon cancer in Japan. She had undergone annual

BRIEF COMMUNICATION

©2004 Pulsus Group Inc. All rights reserved

surveillance barium enemas in Japan but had failed to pursuefurther follow-up after her immigration to Canada. The mater-nal grandfather had died at the age of 50 years, reportedly ofmetastatic colon cancer, and a maternal aunt reportedly hadcolonic polyps, but not cancer, at the age of 54 years. Therewas no family history of extraintestinal malignancy. Followingthe patient’s flexible sigmoidoscopy, it was recommended heundergo colonoscopy at age 25 years or sooner if rectal bleed-ing recurred.

Three months later, the patient was investigated by his familyphysician for unexplained fever and a possible pelvic mass. Acomputerized tomography scan of the abdomen and pelvis, per-formed two days before his 20th birthday, revealed an 11.9 cmpelvic mass adjacent to the cecum. The patient underwentcolonoscopy three days after his 20th birthday. A large poly-poid mass was found in the ascending colon that, on histologi-cal examination of the biopsied tissue, was confirmed to be amoderately differentiated adenocarcinoma.

At laparotomy there was an obvious large tumour of thececum extending halfway up the ascending colon and involv-ing the terminal ileum and urinary bladder. There was mildevidence of ascites but there was no surface peritoneal tumourgrowth, nor were there any palpable liver metastases. He sub-sequently underwent a right hemicolectomy and partial cystec-tomy. Two of 17 sampled lymph nodes were positive fortumour. Since then, he has received four cycles (of eightplanned) of FOLFOX chemotherapy (consisting of 150 mgoxaliplatin, 600 mg folinic acid, and 5-fluorouracil 600 mgbolus and 2400 mg via continuous infusion administered over4 h). He has tolerated this well with only transient diarrheafollowing each dose. His clinical condition has improved withimpressive weight gain from 46 kg to 55 kg and an associatedimproved sense of well being.

DISCUSSIONThe diagnosis of HNPCC is based on guidelines known as theAmsterdam criteria (3), which includes the following:

• At least three relatives with colorectal cancer, one of

whom must be a first degree relative of the other two;

• Involvement of two or more generations;

• At least one case diagnosed before the age of 50 years; and

• Familial adenomatous polyposis has been excluded.

It has clearly been established that screening is necessarybecause of the history of rapid adenoma to carcinoma progres-sion in patients manifesting HNPCC. In one 15 year trial,colonoscopic screening at three-year intervals more thanhalves the risk of colorectal cancer, prevents deaths due tocolorectal cancer, and decreases overall mortality by approxi-mately 65% in HNPCC families (4). A task force organizedby the National Human Genome Research Institute, has rec-ommended colonoscopy every one to three years starting atage 25 years for individuals known to have HNPCC-associatedmutations (1). Lynch et al (2) have suggested annual colono-scopies starting at the age of 20 years. With our currentpatient, clearly, there was advanced cancer present before theage of 20 years. This patient’s family history was suggestive ofHNPCC but the clinical diagnosis of the syndrome was notfulfilled until he himself was diagnosed with colon cancer.Unfortunately, in this situation there are no current recom-mendations for screening. This case illustrates the limitationsof the current guidelines as it pertains to young people. Inthis era of quality assurance audits with respect to invasiveprocedures and medical insurance billing, we suggest that insimilar cases, it would be appropriate for both physicians andpatients to consider colonoscopic screening well before thelower age limit of current guidelines. In the future, the avail-ability of commercial assays for HNPCC genetic markerscreening, as well as sensitive and specific noninvasivecolonoscopic imaging, such as three dimensional virtualcolonoscopy (5), will make this suggestion easier to accept.

CONTRIBUTIONS: Dr Victor Wong wrote the preliminary dis-cussion and compiled the reference list. Dr Yoshida wrote the pre-liminary introduction and case presentation section. Dr Salhrewrote the paper for its final presentation. Drs Ryan and Horeviewed all of the computerized tomography scans and selectedFigure 1. They also wrote the legend to Figure 1. There are nocompeting interests to declare.

ACKNOWLEDGEMENTS: The patient reported has givenwritten consent for the publication of this paper.

Wong et al

Can J Gastroenterol Vol 18 No 5 May 2004320

REFERENCES1. Burke W, Petersen G, Lynch P, et al. Recommendations for follow-

up care of individuals with an inherited predisposition to cancer. I. Hereditary nonpolyposis colon cancer. JAMA 1997;277:915-9.

2. Lynch HT, De La Chapelle A. Hereditary colorectal cancer. N EnglJ Med 2003;348:919-32.

3. Vasen HF, Mecklin JP, Khan PM, Lynch HT. The InternationalCollaborative Group on Hereditary Non-Polyposis ColorectalCancer (ICG-HNPCC). Dis Colon Rectum 1991;34:424-5.

4. Järvinen HJ, Aarnio M, Mustonen H, et al. Controlled 15-yeartrial on screening for colorectal cancer in families with hereditarynonpolyposis colorectal cancer. Gastroenterology 2000;118:829-34.

5. Pickhardt PJ, Choi JR, Hwang I, et al. Computed tomographicvirtual colonoscopy to screen for colorectal neoplasia inasymptomatic adults. N Engl J Med 2003;349:2191-200.

Figure 1) Contrast-enhanced transverse computerized tomographyimage demonstrating a large, heterogeneously enhancing, partiallynecrotic pelvic mass, a loop of dilated, thick-walled adjacent small bowel(a) and a trace of ascites (b). Normal sigmoid colon is shown posteriorto the mass

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