Int J Cotorect Dis (199t) 6:169-170
Col6reeial Disease
9 Springer-Veflag 1991
Severe colonic dysplasia in a child with familial adenomatous polyposis D. Ruttenberg, M.S. Elliot and E. Bolding Gastrointestinal Clinic and Surgical Gastroenterology, Departments of Medicine, Pathology and Surgery, University of Cape Town and Groote Schuur Hospital, Cape Town, South Africa Accepted: 22 April 1991
Abstract. Familial a d e n o m a t o u s polyposis (FAP), is a genetic premalignant condition which, if untreated, will ultimately manifest with the development o f colorectal carcinoma. It is a disease o f y o u n g adulthood. Rectal and colonic polyps are seldom seen before 10 years o f age. Screening o f clinically a s y m p t o m a t i c relatives thus generally starts during the teenage years. C a r c i n o m a o f the colon is exeedingly rare in children with FAP. While all adult patients should be surgically treated before the appearance o f any carcinoma, early detection o f dysplasia is p a r a m o u n t . The present case history relates to an &yearold b o y with F A P w h o was f o u n d to have a significant degree o f dysplasia in a polyp. This case remains the exception and a u n i f o r m a p p r o a c h to the screening and treatment o f patients with F A P is still encouraged. R6sum6. L a polypose a d 6 n o m a t e u s e familiale (PAF) est un 6tat pr6-canc6reux g6n&ique qui, s'il n'est pas trait6, a b o u t i r a au d6vetoppement d ' u n cancer colo-rectal. C'est une maladie de I'adulte jeune. Les polypes rectaux et coliques sont rarement vus avant 10 ans. La surveillance des parents cliniquement a s y m p t o m a t i q u e s c o m m e n c e g6n6ralement d u r a n t la deuxi6me d6cade. Puisque tous les patients doivent ~tre trait6s chirurgicalement a v a n t l'apparition d ' u n cancer la d6tection pr6coce de la dysplasie est d ' u n e extrbme importance. Le cas pr6sent r a p p o r t e l'histoire d ' u n e jeune g a r c o n de 8 ans avec une P A F chez qui on a trouv6 un degr6 significatif de dysplasie dans un polype. Ce cas demeure une exception et une a p p r o c h e u n i v o q u e de la surveillance et du traitement des patients atteints de P A F est encore encouragbe.
Case report The patient, an 8-year-old boy, first presented in May 1987 with acute symptoms of nausea, para-umbilical cramps and right iliac fossa pain. On examination, he was mildly pyrexial. His father had had a total colectomy and ileorectal anastomosis at the age of 20 years for familial adenomatous polyposis. A subsequent carcinoma of the rectum had necessitated further abdominal surgery. In spite
of the family history of polyposis, a diagnosis of early appendicitis as the cause of the symptoms was entertained, and the boy was admitted to the hospital. His symptoms worsened over the following 12 hours and the decision was made to operate. Under general anaesthesia, a standard appendectomy was performed through a gridiron incision. There was no evidence of a Meckel's diverticulum. Macroscopic and microscopic examination of the appendix was normal. A sigmoidoscopic examination, prompted by the family history, was performed and this revealed numerous rectal polyps. Biopsies confirmed the presence of multiple adenomatous polyps. A diagnosis of familiat adenomatous polyposis (FAP) was made. Six weeks later the patient underwent a total colonoscopy which revealed well over 100 rectal and colonic polyps. Of particular interest was a large 3.5 cm pedunculated polyp in the descending colon which was removed with a diathermy snare. Histology of this polyp showed an unusual combination of both adenomatous and hamartomatous features, the latter typical of those seen in a juvenile retention polyp. Focal areas showed dysplastic changes varying from moderate to severe dysplasia, but no invasive carcinoma was present (Fig. 1). Three further colonoscopies have since been performed and the distribution, size and histology of the polyps have remained constant over the past 3 years with no further evidence of significant dysplasia. Thirteen further polyps have been removed, none greater than 1 cm in size and aU showed evidence of mild to moderate dysplasia. Definitive surgery was deferred in view of the age of the patient. He is, however, scheduled to undergo surgery at the age of 13 years.
Discussion Familial a d e n o m a t o u s polyposis, a premalignant condition, is inherited as an a u t o s o m a l d o m i n a n t trait, and is characterised by the presence o f multiple, (greater than 100) a d e n o m a t o u s polyps in the colon. The incidence is estimated at between 1 in 7000 a n d 1 in 10000 new births [1, 2]. While polyps a p p e a r at a m e d i a n age o f 16 years [3], F A P has been d o c u m e n t e d as early as 4 m o n t h s o f age [4]. A l t h o u g h this is suggestive o f colonic polyposis being present during intrauterine life, it has has n o t been documented at birth before [2, 5]. It is estimated that 80% o f patients manifest the gene by the age o f 25 years [6]. The average age o f presentation o f s y m p t o m a t i c patients with F A P is 36 years and is thus later than in those
170
Fig. 1. A Low power view of colonic polyp showing mixed adenomatous and hamartomatous features. (50 times magnification) B Colonic polyp biopsy showing moderate to severe surface dysplasia. (100 times magnification)
in whom it is found as a result of routine surveillance (24 years) [2, 7]. While there are isolated reports in the literature o f FAP in children [8, 9], severe dysplasia has not been reported in an 8-year-old child with FAP before. The youngest reported FAP patient with colon cancer is 9 years of age [10]. Cases of polyposis have been diagnosed in patients under 10 years of age and colonic carcinomas have been found in teenagers with FAP [11]. Most polyps are smaller than 0.5 cm in size and of the tubular variety [12], although tubulovillous and villous adenomas are also encountered. Generally, all patients have rectal adenomas that are recognisable sigmoidoscopicaUy. Adenocarcinomas o f the colon in FAP are diagnosed at a mean age o f 39 years [12], and are histologically identical to those presenting in the nonpolypotic patient. In a significant percentage of patients, symptoms are the first manifestation of a developed carcinoma [2, 13]. The management o f family members of patients with FAP still poses a problem. Regular screening examinations in children are deferred until the child is over 10 years old and sigmoidoscopic screening at St. Mark's Hospital starts between the ages of 10 and 14 years [7]. The appearance of severe dysplasia at the age of 8 years, coupled with the family history of early onset of rectal carcinoma, would suggest that our patient may be at risk o f developing his colon cancer at an earlier age.
2. Aim T and Liecznerski G (1973) The intestinal polyposis. Clin Gastroenterol 2:577 3. Bulow S (1986) Familial polyposis coli. A clinical and epidemiological study. Denmark, Laegeforeningens Forlag 4. LeFevre HW, Jacques TF (1951) Multiple polyposis in an infant of four months. Amer J Surg 81:90 5. Knox WG, Miller RE, Begg CF, Zintel HA (1960) Juvenile polyps of the colon. A clinicopathologic analysis of 75 polyps in 43 patients. Surgery 48:201 6. Bussey HJR (1985) The management of familial polyposis coli. Roy Coll Med Current Med Lit-Gastroenterol 4:61-64 7. Vasen HF, Griffioen G, Offerhaus GJ, Den Hartog Jager FC, Van Leeuwen-Cornelisse IS, Meera Khan P, Lamers CB, Van Slooten EA (1990) The value of screening and central registration for families with familial adenomatous polyposis. A study of 82 families in The Netherlands. Dis Colon Rectum 33: 227230 8. Louw JH (1972) Polypoid Lesions of the Large Bowel in Children. SAMJ 1347-1352 9. Veale AMO, McColl I, Bussey HJR, Morson BC (1966) Juvenile polyposis coti, J Med Genet 3:5-16 10. Reed TE, Neel JV (1955) A genetic study of multiple polyposis of the colon. Am J Human Genet. 7:236 11. Haggitt RC, Reid BJ (1986) Hereditary Gastrointestinal Polyposis Syndromes. Am J Surg Path 10:871-887 12. Bussey HJR (1975) Familial Polyposis Coll. Family studies, histopathology, differential diagnosis, and results of treatment. Baltimore, The Johns Hopkins University Press 13. Morson BC, Bussey HJR (1970) Predisposing causes of intestinal cancer. In: Ravetch MM, Ellison EH, Julian OL, Thai AP, Wangensteen OH (ed). Current Problems in Surgery, Chicago, Year Book Medical Publishers
References
Dr. David Ruttenberg Gastrointestinal Clinic Groote Schuur Hospital Observatory, Cape Town 7925 South Africa
1. Northover JMA, Murday V (1989) Familial colorectal cancer and familial adenomatous polyposis. In: Mortenson N (ed) Ballieres Clinical Gastroenterology 3:593-613
Col6reeial Disease
9 Springer-Veflag 1991
Severe colonic dysplasia in a child with familial adenomatous polyposis D. Ruttenberg, M.S. Elliot and E. Bolding Gastrointestinal Clinic and Surgical Gastroenterology, Departments of Medicine, Pathology and Surgery, University of Cape Town and Groote Schuur Hospital, Cape Town, South Africa Accepted: 22 April 1991
Abstract. Familial a d e n o m a t o u s polyposis (FAP), is a genetic premalignant condition which, if untreated, will ultimately manifest with the development o f colorectal carcinoma. It is a disease o f y o u n g adulthood. Rectal and colonic polyps are seldom seen before 10 years o f age. Screening o f clinically a s y m p t o m a t i c relatives thus generally starts during the teenage years. C a r c i n o m a o f the colon is exeedingly rare in children with FAP. While all adult patients should be surgically treated before the appearance o f any carcinoma, early detection o f dysplasia is p a r a m o u n t . The present case history relates to an &yearold b o y with F A P w h o was f o u n d to have a significant degree o f dysplasia in a polyp. This case remains the exception and a u n i f o r m a p p r o a c h to the screening and treatment o f patients with F A P is still encouraged. R6sum6. L a polypose a d 6 n o m a t e u s e familiale (PAF) est un 6tat pr6-canc6reux g6n&ique qui, s'il n'est pas trait6, a b o u t i r a au d6vetoppement d ' u n cancer colo-rectal. C'est une maladie de I'adulte jeune. Les polypes rectaux et coliques sont rarement vus avant 10 ans. La surveillance des parents cliniquement a s y m p t o m a t i q u e s c o m m e n c e g6n6ralement d u r a n t la deuxi6me d6cade. Puisque tous les patients doivent ~tre trait6s chirurgicalement a v a n t l'apparition d ' u n cancer la d6tection pr6coce de la dysplasie est d ' u n e extrbme importance. Le cas pr6sent r a p p o r t e l'histoire d ' u n e jeune g a r c o n de 8 ans avec une P A F chez qui on a trouv6 un degr6 significatif de dysplasie dans un polype. Ce cas demeure une exception et une a p p r o c h e u n i v o q u e de la surveillance et du traitement des patients atteints de P A F est encore encouragbe.
Case report The patient, an 8-year-old boy, first presented in May 1987 with acute symptoms of nausea, para-umbilical cramps and right iliac fossa pain. On examination, he was mildly pyrexial. His father had had a total colectomy and ileorectal anastomosis at the age of 20 years for familial adenomatous polyposis. A subsequent carcinoma of the rectum had necessitated further abdominal surgery. In spite
of the family history of polyposis, a diagnosis of early appendicitis as the cause of the symptoms was entertained, and the boy was admitted to the hospital. His symptoms worsened over the following 12 hours and the decision was made to operate. Under general anaesthesia, a standard appendectomy was performed through a gridiron incision. There was no evidence of a Meckel's diverticulum. Macroscopic and microscopic examination of the appendix was normal. A sigmoidoscopic examination, prompted by the family history, was performed and this revealed numerous rectal polyps. Biopsies confirmed the presence of multiple adenomatous polyps. A diagnosis of familiat adenomatous polyposis (FAP) was made. Six weeks later the patient underwent a total colonoscopy which revealed well over 100 rectal and colonic polyps. Of particular interest was a large 3.5 cm pedunculated polyp in the descending colon which was removed with a diathermy snare. Histology of this polyp showed an unusual combination of both adenomatous and hamartomatous features, the latter typical of those seen in a juvenile retention polyp. Focal areas showed dysplastic changes varying from moderate to severe dysplasia, but no invasive carcinoma was present (Fig. 1). Three further colonoscopies have since been performed and the distribution, size and histology of the polyps have remained constant over the past 3 years with no further evidence of significant dysplasia. Thirteen further polyps have been removed, none greater than 1 cm in size and aU showed evidence of mild to moderate dysplasia. Definitive surgery was deferred in view of the age of the patient. He is, however, scheduled to undergo surgery at the age of 13 years.
Discussion Familial a d e n o m a t o u s polyposis, a premalignant condition, is inherited as an a u t o s o m a l d o m i n a n t trait, and is characterised by the presence o f multiple, (greater than 100) a d e n o m a t o u s polyps in the colon. The incidence is estimated at between 1 in 7000 a n d 1 in 10000 new births [1, 2]. While polyps a p p e a r at a m e d i a n age o f 16 years [3], F A P has been d o c u m e n t e d as early as 4 m o n t h s o f age [4]. A l t h o u g h this is suggestive o f colonic polyposis being present during intrauterine life, it has has n o t been documented at birth before [2, 5]. It is estimated that 80% o f patients manifest the gene by the age o f 25 years [6]. The average age o f presentation o f s y m p t o m a t i c patients with F A P is 36 years and is thus later than in those
170
Fig. 1. A Low power view of colonic polyp showing mixed adenomatous and hamartomatous features. (50 times magnification) B Colonic polyp biopsy showing moderate to severe surface dysplasia. (100 times magnification)
in whom it is found as a result of routine surveillance (24 years) [2, 7]. While there are isolated reports in the literature o f FAP in children [8, 9], severe dysplasia has not been reported in an 8-year-old child with FAP before. The youngest reported FAP patient with colon cancer is 9 years of age [10]. Cases of polyposis have been diagnosed in patients under 10 years of age and colonic carcinomas have been found in teenagers with FAP [11]. Most polyps are smaller than 0.5 cm in size and of the tubular variety [12], although tubulovillous and villous adenomas are also encountered. Generally, all patients have rectal adenomas that are recognisable sigmoidoscopicaUy. Adenocarcinomas o f the colon in FAP are diagnosed at a mean age o f 39 years [12], and are histologically identical to those presenting in the nonpolypotic patient. In a significant percentage of patients, symptoms are the first manifestation of a developed carcinoma [2, 13]. The management o f family members of patients with FAP still poses a problem. Regular screening examinations in children are deferred until the child is over 10 years old and sigmoidoscopic screening at St. Mark's Hospital starts between the ages of 10 and 14 years [7]. The appearance of severe dysplasia at the age of 8 years, coupled with the family history of early onset of rectal carcinoma, would suggest that our patient may be at risk o f developing his colon cancer at an earlier age.
2. Aim T and Liecznerski G (1973) The intestinal polyposis. Clin Gastroenterol 2:577 3. Bulow S (1986) Familial polyposis coli. A clinical and epidemiological study. Denmark, Laegeforeningens Forlag 4. LeFevre HW, Jacques TF (1951) Multiple polyposis in an infant of four months. Amer J Surg 81:90 5. Knox WG, Miller RE, Begg CF, Zintel HA (1960) Juvenile polyps of the colon. A clinicopathologic analysis of 75 polyps in 43 patients. Surgery 48:201 6. Bussey HJR (1985) The management of familial polyposis coli. Roy Coll Med Current Med Lit-Gastroenterol 4:61-64 7. Vasen HF, Griffioen G, Offerhaus GJ, Den Hartog Jager FC, Van Leeuwen-Cornelisse IS, Meera Khan P, Lamers CB, Van Slooten EA (1990) The value of screening and central registration for families with familial adenomatous polyposis. A study of 82 families in The Netherlands. Dis Colon Rectum 33: 227230 8. Louw JH (1972) Polypoid Lesions of the Large Bowel in Children. SAMJ 1347-1352 9. Veale AMO, McColl I, Bussey HJR, Morson BC (1966) Juvenile polyposis coti, J Med Genet 3:5-16 10. Reed TE, Neel JV (1955) A genetic study of multiple polyposis of the colon. Am J Human Genet. 7:236 11. Haggitt RC, Reid BJ (1986) Hereditary Gastrointestinal Polyposis Syndromes. Am J Surg Path 10:871-887 12. Bussey HJR (1975) Familial Polyposis Coll. Family studies, histopathology, differential diagnosis, and results of treatment. Baltimore, The Johns Hopkins University Press 13. Morson BC, Bussey HJR (1970) Predisposing causes of intestinal cancer. In: Ravetch MM, Ellison EH, Julian OL, Thai AP, Wangensteen OH (ed). Current Problems in Surgery, Chicago, Year Book Medical Publishers
References
Dr. David Ruttenberg Gastrointestinal Clinic Groote Schuur Hospital Observatory, Cape Town 7925 South Africa
1. Northover JMA, Murday V (1989) Familial colorectal cancer and familial adenomatous polyposis. In: Mortenson N (ed) Ballieres Clinical Gastroenterology 3:593-613
