Journal of the Royal Society of Medicine Volume 72 December 1979
935
Malignant change in rectal duplication' A C Branfoot FRCS MRCPath J F Colin MS FRCS (for Kingsley P Robinson MS FRCS) Westminster Hospital, London SWI
A case is described where a retrorectal cyst presenting in a young adult proved to be a duplication of the rectum with signs of malignant change. History Miss G M was noted at birth in 1947 to have a hairy sacral dimple and her parents were told by a doctor that she might never walk. However, her childhood was uneventful and she grew perfectly normally, not experiencing any symptoms until 1974 when, aged 26, she had difficulty starting micturition, especially if wearing an internal sanitary tampon. In February 1975 she was found at a gynaecological examination to have a pelvic mass and was referred for surgical opinion in Wigan. At laparotomy the mass was found to be inseparable from the back of the rectum but also adherent to the front of the sacrum. Aspiration showed that the mass was a cyst, so a piece of the wall was removed for histology and the operation terminated. Pathological study was inconclusive, but since chordoma was suspected, the patient was referred to the Westminster Hospital for consideration of radiotherapy. No treatment was-given, however, for chordoma could not be confirmed by review of the histology. The patient remained well until August 1977 when symptoms of intermittent urinary retention demanded reassessment. A mass could now be felt rising out of the pelvis from the front of the sacrum, pushing the uterus upwards and forwards, but findings at cystoscopy and sigmoidoscopy were normal. A 'Tru-cut' biopsy via the perineum was made and 250 ml brownish gelatinous fluid drained from the cyst, but again histology was inconclusive. Three months later fluid had reaccumulated with recurrence of urinary synmptoms, which culminated in acute retention of urine needing catheterization. In February 1978 the cyst was resected by a synchronous abdominoperineal approach, when it was readily separated from the sacrum, but meticulous dissection was needed anteriorly where it was intimately adherent to the rectum (Figure 1).
Pathology The cyst had ruptured and collapsed, measuring 14 x 13 x 6 cm with a wall up to 1 cm thick. The lining was brown or yellow with occasional glistening white nodules, and the ragged Q4'~~~~~~~~~~~~~~~~~~~~~-
Figure 1. Diagram showing relations of the cyst I
Figure 2. Papillary adenocarcinoma confined here by muscle coat (below). H & E x 10
Case presented to Clinical Section, 23 June 1978. Accepted 11 October 1978
0 1 41-0768/79/120935-03/$O 1.00/0
,'-.
1979 The Royal Society of Medicine
936
Journal of the Royal Society of Medicine Volume 72 December 1979
exterior included some muscle fibres. Microscopically, most of the lining was granulation tissue with a foreign body giant cell reaction to cholesterol, keratin and haemorrhage, and there were some foci of calcification. Two layers of muscle could be found but the only epithelium consisted of malignant papillae (Figure 2) and signet ring mucoid adenocarcinoma lying in the lumen, but nowhere penetrating the wall. Review of the earlier biopsies showed that in the first a few tiny foci of papillary adenoma had been overlooked, and that in the second there were foci of mucus-secreting Paget cells in a nonkeratinizing squamous mucosa (Figures 3 & 4).
L_
~~~~~~~~~~
Figure 3. Pagetoid change in squamous epithelium 25 overlooked in second biopsy. H & E x
Figure 4. Another field in second biopsy showing dysplastic and mucin-secreting goblet cells. PAS x 40
Discussion
Amongst alimentary duplications, those of the rectum are unusual (Kraft 1962) and, even though more frequent in children than in adults, Basu et al. (1960) found only two in a series of 28. Malignant change in an alimentary duplication is exceedingly unusual. A possible case of carcinoma in a sigmoid colon duplication was recorded in 1882 by Lockwood and an adenomatous polyp in a double colon has also been described (Van Zwalenburg 1952). Orr & Edwards (1975) reviewed the reported cases of malignant change in duplications of the alimentary tract and described two of their own, two out of seven adenocarcinomas arising in a presacral cystic duplication. Recently Downing et al. (1978) have reported an invasive adenocarcinoma in a rectal duplication which was treated by abdominoperineal excision of the rectum. Our case fulfils the criteria for the diagnosis of an intestinal duplication: it should be adherent to some part of the gastrointestinal tract, contain smooth muscle in the wall, and have an alimentary type of mucous membrane, at least in parts (MacLeod & Purves 1970). The presence of squamous epithelium in no way invalidates the diagnosis, since embryological retention cysts tend, like branchial cysts, to undergo squamous metaplasia, chronic inflammation and ulceration as they enlarge. The presence of a hairy sacral dimple at birth may have suggested the presence of spina bifida occulta and certainly alimentary and limb reduplications have been associated with such axial malformations (Bentley & Smith 1960), but no radiological abnormality of the spine could be detected in our case. The importance of obtaining a correct tissue diagnosis when dealing with any presacral tumour has been stressed by Uhlig & Johnson (1975), but McColl (1963) first warned of the risk of malignant change in a rectal reduplication. The frequency of such change has been emphasized by more recent case reports, and our own experience shows that the diagnosis can easily be missed (and the best opportunity for sufficiently radical treatment lost) if it is not more strongly suspected and sought.
Journal ofthe Royal Society ofMedicine Volume 72 December 1979
937
References Basu R, ForshaU I & Rickham P P (1960) British Journal of Surgery 47, 477 Bendey J F R & Smith J R (1960) Archives of Disease in Childhood 35, 76 Downing R, Thompson H & Alexander-Williams J (1978) British Journal of Surgery 65, 572 Kraft R 0 (1962) Annals of Surgery 155, 230 Lockwood C B (1882) British Medical Journal ii, 574 McColl I (1963) Proceedings of the Royal Society ofMedicine 56, 797 MacLeod J H & Purves J K (1970) Diseases of the Colon and Rectum 13, 133 Orr M M & Edwards A J (1975) British Journal of Surgery 62, 269 Ublig B E & Johnson R L (1975) Diseases of the Colon and Rectum 18, 581 Van Zwalenburg B R (1952) American Journal o Roentgenology 68,22
Hereditary haemiorrhagic telangiectasia: mnjor recurrent gastric bleeding treated by gastrectomy1 W J Owen Bsc FRCS Professor I McColl MS FRCS Guy's Hospital, London SE] 9RT
Hereditary haemorrhagic telangiectasia (Osler Weber Rendu Syndrome) is fortunately a rare disease characterized by the triad of mucocutaneous telangiectases, recurrent bleeding, and a family history. The disease usually presents with epistaxes of increasing severity over many years eventually requiring blood transfusion in about 40% of cases (Bogoch 1974). When gastrointestinal bleeding occurs the problems of management are increased, and because of the difficulties the results of excisional surgery are very poor. A case is now described of severe recurrent gastric bleeding successfully treated by subtotal gastrectomy. Case history Mr M, a 65-year-old retired policeman, was diagnosed as having hereditary haemorrhagic telangiectasia at the age of 25 years, when he suffered from numerous epistaxes. At the age of 50 years he was admitted with a perforated duodenal ulcer and had a vagotomy and pyloroplasty, and since then had been free of dyspepsia. Between 1976 and May 1978 he was admitted on ten occasions with haematemesis and melaena and was transfused on each occasion. Barium meal on one occasion suggested a recurrence of his duodenal ulcer and endoscopy on at least three separate occasions showed multiple gastric erosions. Over the first five months of 1978 h-e received 30 units of blood and this pattern of bleeding was unaffected by cimetidine therapy. He was referred to Guy's Hospital in May 1978 and on examination was found to have florid features of hereditary haemorrhagic telangiectasia affecting the face, tongue (Figure 1), and mouth, trunk and arms. His son, now aged 26 years, suffers from repeated epistaxes but has no other features of the disease and there is no other relevant history. Haematology: haemoglobin 11.7 g/dl, MCHC 31.9%, platelets 181 x 103/gI, normal clotting studies. Gastroscopy showed about 50 telangiectases occupying the body of the stomach, the largest (3 mm) bled on contact and was situated on the lesser curvature. Coeliac angiogram showed abnormal vascular shadowing in the liver, body of the stomach (fed by the splenic artery) (Figure 2), and lower down on the lesser curve of the stomach. Superior mesenteric angiograms demonstrated abnormal vessels in the ascending colon but no abnormality in the small bowel. Laparotomy was performed on 25 May 1978 and a subtotal polya distal gastrectomy was carried out. Preoperative endoscopy confirmed the absence of telangiectases in the gastric 1 Case presented to Clinical Section, 10 November 1978. Accepted 8 January 1979
0141--0768/79/120937-03/$01.00/0
"-.
1979 The Royal Society of Medicine
935
Malignant change in rectal duplication' A C Branfoot FRCS MRCPath J F Colin MS FRCS (for Kingsley P Robinson MS FRCS) Westminster Hospital, London SWI
A case is described where a retrorectal cyst presenting in a young adult proved to be a duplication of the rectum with signs of malignant change. History Miss G M was noted at birth in 1947 to have a hairy sacral dimple and her parents were told by a doctor that she might never walk. However, her childhood was uneventful and she grew perfectly normally, not experiencing any symptoms until 1974 when, aged 26, she had difficulty starting micturition, especially if wearing an internal sanitary tampon. In February 1975 she was found at a gynaecological examination to have a pelvic mass and was referred for surgical opinion in Wigan. At laparotomy the mass was found to be inseparable from the back of the rectum but also adherent to the front of the sacrum. Aspiration showed that the mass was a cyst, so a piece of the wall was removed for histology and the operation terminated. Pathological study was inconclusive, but since chordoma was suspected, the patient was referred to the Westminster Hospital for consideration of radiotherapy. No treatment was-given, however, for chordoma could not be confirmed by review of the histology. The patient remained well until August 1977 when symptoms of intermittent urinary retention demanded reassessment. A mass could now be felt rising out of the pelvis from the front of the sacrum, pushing the uterus upwards and forwards, but findings at cystoscopy and sigmoidoscopy were normal. A 'Tru-cut' biopsy via the perineum was made and 250 ml brownish gelatinous fluid drained from the cyst, but again histology was inconclusive. Three months later fluid had reaccumulated with recurrence of urinary synmptoms, which culminated in acute retention of urine needing catheterization. In February 1978 the cyst was resected by a synchronous abdominoperineal approach, when it was readily separated from the sacrum, but meticulous dissection was needed anteriorly where it was intimately adherent to the rectum (Figure 1).
Pathology The cyst had ruptured and collapsed, measuring 14 x 13 x 6 cm with a wall up to 1 cm thick. The lining was brown or yellow with occasional glistening white nodules, and the ragged Q4'~~~~~~~~~~~~~~~~~~~~~-
Figure 1. Diagram showing relations of the cyst I
Figure 2. Papillary adenocarcinoma confined here by muscle coat (below). H & E x 10
Case presented to Clinical Section, 23 June 1978. Accepted 11 October 1978
0 1 41-0768/79/120935-03/$O 1.00/0
,'-.
1979 The Royal Society of Medicine
936
Journal of the Royal Society of Medicine Volume 72 December 1979
exterior included some muscle fibres. Microscopically, most of the lining was granulation tissue with a foreign body giant cell reaction to cholesterol, keratin and haemorrhage, and there were some foci of calcification. Two layers of muscle could be found but the only epithelium consisted of malignant papillae (Figure 2) and signet ring mucoid adenocarcinoma lying in the lumen, but nowhere penetrating the wall. Review of the earlier biopsies showed that in the first a few tiny foci of papillary adenoma had been overlooked, and that in the second there were foci of mucus-secreting Paget cells in a nonkeratinizing squamous mucosa (Figures 3 & 4).
L_
~~~~~~~~~~
Figure 3. Pagetoid change in squamous epithelium 25 overlooked in second biopsy. H & E x
Figure 4. Another field in second biopsy showing dysplastic and mucin-secreting goblet cells. PAS x 40
Discussion
Amongst alimentary duplications, those of the rectum are unusual (Kraft 1962) and, even though more frequent in children than in adults, Basu et al. (1960) found only two in a series of 28. Malignant change in an alimentary duplication is exceedingly unusual. A possible case of carcinoma in a sigmoid colon duplication was recorded in 1882 by Lockwood and an adenomatous polyp in a double colon has also been described (Van Zwalenburg 1952). Orr & Edwards (1975) reviewed the reported cases of malignant change in duplications of the alimentary tract and described two of their own, two out of seven adenocarcinomas arising in a presacral cystic duplication. Recently Downing et al. (1978) have reported an invasive adenocarcinoma in a rectal duplication which was treated by abdominoperineal excision of the rectum. Our case fulfils the criteria for the diagnosis of an intestinal duplication: it should be adherent to some part of the gastrointestinal tract, contain smooth muscle in the wall, and have an alimentary type of mucous membrane, at least in parts (MacLeod & Purves 1970). The presence of squamous epithelium in no way invalidates the diagnosis, since embryological retention cysts tend, like branchial cysts, to undergo squamous metaplasia, chronic inflammation and ulceration as they enlarge. The presence of a hairy sacral dimple at birth may have suggested the presence of spina bifida occulta and certainly alimentary and limb reduplications have been associated with such axial malformations (Bentley & Smith 1960), but no radiological abnormality of the spine could be detected in our case. The importance of obtaining a correct tissue diagnosis when dealing with any presacral tumour has been stressed by Uhlig & Johnson (1975), but McColl (1963) first warned of the risk of malignant change in a rectal reduplication. The frequency of such change has been emphasized by more recent case reports, and our own experience shows that the diagnosis can easily be missed (and the best opportunity for sufficiently radical treatment lost) if it is not more strongly suspected and sought.
Journal ofthe Royal Society ofMedicine Volume 72 December 1979
937
References Basu R, ForshaU I & Rickham P P (1960) British Journal of Surgery 47, 477 Bendey J F R & Smith J R (1960) Archives of Disease in Childhood 35, 76 Downing R, Thompson H & Alexander-Williams J (1978) British Journal of Surgery 65, 572 Kraft R 0 (1962) Annals of Surgery 155, 230 Lockwood C B (1882) British Medical Journal ii, 574 McColl I (1963) Proceedings of the Royal Society ofMedicine 56, 797 MacLeod J H & Purves J K (1970) Diseases of the Colon and Rectum 13, 133 Orr M M & Edwards A J (1975) British Journal of Surgery 62, 269 Ublig B E & Johnson R L (1975) Diseases of the Colon and Rectum 18, 581 Van Zwalenburg B R (1952) American Journal o Roentgenology 68,22
Hereditary haemiorrhagic telangiectasia: mnjor recurrent gastric bleeding treated by gastrectomy1 W J Owen Bsc FRCS Professor I McColl MS FRCS Guy's Hospital, London SE] 9RT
Hereditary haemorrhagic telangiectasia (Osler Weber Rendu Syndrome) is fortunately a rare disease characterized by the triad of mucocutaneous telangiectases, recurrent bleeding, and a family history. The disease usually presents with epistaxes of increasing severity over many years eventually requiring blood transfusion in about 40% of cases (Bogoch 1974). When gastrointestinal bleeding occurs the problems of management are increased, and because of the difficulties the results of excisional surgery are very poor. A case is now described of severe recurrent gastric bleeding successfully treated by subtotal gastrectomy. Case history Mr M, a 65-year-old retired policeman, was diagnosed as having hereditary haemorrhagic telangiectasia at the age of 25 years, when he suffered from numerous epistaxes. At the age of 50 years he was admitted with a perforated duodenal ulcer and had a vagotomy and pyloroplasty, and since then had been free of dyspepsia. Between 1976 and May 1978 he was admitted on ten occasions with haematemesis and melaena and was transfused on each occasion. Barium meal on one occasion suggested a recurrence of his duodenal ulcer and endoscopy on at least three separate occasions showed multiple gastric erosions. Over the first five months of 1978 h-e received 30 units of blood and this pattern of bleeding was unaffected by cimetidine therapy. He was referred to Guy's Hospital in May 1978 and on examination was found to have florid features of hereditary haemorrhagic telangiectasia affecting the face, tongue (Figure 1), and mouth, trunk and arms. His son, now aged 26 years, suffers from repeated epistaxes but has no other features of the disease and there is no other relevant history. Haematology: haemoglobin 11.7 g/dl, MCHC 31.9%, platelets 181 x 103/gI, normal clotting studies. Gastroscopy showed about 50 telangiectases occupying the body of the stomach, the largest (3 mm) bled on contact and was situated on the lesser curvature. Coeliac angiogram showed abnormal vascular shadowing in the liver, body of the stomach (fed by the splenic artery) (Figure 2), and lower down on the lesser curve of the stomach. Superior mesenteric angiograms demonstrated abnormal vessels in the ascending colon but no abnormality in the small bowel. Laparotomy was performed on 25 May 1978 and a subtotal polya distal gastrectomy was carried out. Preoperative endoscopy confirmed the absence of telangiectases in the gastric 1 Case presented to Clinical Section, 10 November 1978. Accepted 8 January 1979
0141--0768/79/120937-03/$01.00/0
"-.
1979 The Royal Society of Medicine
