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Congenital anorectal teratoma: Report of a case
Congenital Anorectal Teratoma: Report of a Case ByJudaZ.Jona Milwaukee, Wisconsin @This is the first reported case of congenital anorectal teratoma. Total disconnection from the coccyx and mucomembranous covering distinguish this tumor from the more common sacrococcygeal teratoma. Complete surgical excision is important to avoid recurrence or malignant transformation. Copyright o 1996 by W.B. Saunders Company INDEX
WORDS:
Teratoma,
anorectal,
congenital.
ERATOMA in the posterior rectal area is presumed to be of sacrococcygeal origin. This is the report of a baby born with a large posterior anorectal mass that originated in the rectal wall and was not related to the coccyx. Teratomas of the gastrointestinal tract are rare, and to our knowledge none had occurred in the anorectal area.
T
CASE
REPORT
The patient was a full-term girl born to a gravida 3 mother, whose previous child (a girl) had neurenteric (esophageal) fistula of the thorax. At birth, a posterior perineal mass (Fig l), measuring 5 x 6 X 4 cm, was noted. It was covered with mucosa and contained two sinuses, 1 and 2 cm in depth. The initial clinical diagnosis was anorectal duplication. Diagnostic studies (radiograms, computed tomographic scans, and magnetic resonance imaging) demonstrated a posterior anorectal mass that was presented at the level of the coccyx but was not attached to it (Fig 2). No presacral or adnexal abnormalities were noted. The mass did not contain calcification. There were lumbosacral spine abnormalities; however, magnetic resonance imaging showed the conus to be at the appropriate level, without dysrhaphism. The serum alphafetoprotein level was not elevated. In the operating room, the patient was positioned in the modified dorsolithotomy position. The resection was performed entirely from the perineum because the top (superior) aspect of the mass had prolapsed and was readily visible. The posterior plane was developed on the external anal wall and advanced cephalad to remain within the confinement of the sphincter muscles. The circumferential dissection permitted total excision. The posterior anorectal defect that remained was closed by advancing the free rectal edge to the perineum. The rectoperineal repair was completed by simple suturing. A superficial tongue of rectal mucosa was found to extend anteriorly toward the posterior vaginal fourchette (Fig 1). This was not excised at that time. Histological examination showed that the mass was covered by columnar mucous-secreting epithelium (gastric type) that merged with nonkeratinizing, stratified, squamous epithelium of the perineum. Within the tumor, focal small intestinal mucosa with a few villi, covered by columnar cells with scattered goblet cells, were seen. A tall, columnar, ciliated epithelium was seen as well, interspersed with mucous-secreting glands; bronchial lumen or cartilage was not identified. Deeper tissues had a predominance of smooth muscle mixed with a variety of tissues including islands of cartilage, mature fat, islands of brown fat, portions of skeletal muscle, islands of clear polygonal cells with central nuclei resemJournalofPecfmtnc
Surgery,
Vol31,
No 5 (May),
1996: pp 709-710
bling adrenocortical cells, and one island of ectopic pancreatic tissue, complete with islands of Langerhans and the pancreatic duct. No glial tissue was identified, even with GFAP (glial fibrillary acidic protein) staining. Multiple sections showed no atypia, immaturity, or malignant changes. The final pathological diagnosis was benign mature teratoma. At 9 months of age, a 2-cm mucosa-covered nodule was seen protruding at the anocutaneous resection line posteriorly. This was treated by simple excision and repair. Histologically, this too was a mature teratoma. During this operation, the previously noted anteriorly protruding anal mucosa was excised. It was completely separated from the posterior teratomatous mass. Perineal excision of this extension was conducted similar to an anteriorly placed anus that requires anterior sphincteric repair and perineal body reconstruction. Histological examination showed that the mass was covered by ectopic gastric mucosa. Three months later, two small mucosal nodules were excised from the posterior anal verge region, and these yielded ectopic gastric mucosa on pathological examination. When the patient was last seen, it had been approximately 4 years since this excision; there was no evidence of recurrence or malignant transformation. Her rectal continence has been normal. DISCUSSION
Teratoma in the posterior anorectum is presumed to be of sacrococcygeal origin in most instances. To our knowledge, this is the first report of a primary anorectal wall teratoma presenting as a prolapsing posterior perineal mass at birth. Despite lumbosacral spine abnormalities, no communication or connection could be demonstrated between the mass and the coccyx, either by extensive radiological imaging or at the time of surgical excision. Gastrointestinal teratomas are rare and are localized principally in the stomach.‘j2 We are aware of a single additional case of a prolapsing polyp of the rectum, in a 2-year-old girl, which was found to be immature teratoma.3 Our patient’s lesion was based on the posterior anorectal wall and required minimal proctectomy and rectoperineal repair. A local residual perineal mass was excised later and found to be histologically similar to the original mass. All efforts must be undertaken to eradicate such tumors in toto; otherwise, recurrence or malignant transformation may appear. This fact is well illus-
From the Medical College of Wisconsin and the Department of Pedrattic Surgery Children’s Hospital of Wisconsin, Milwaukee, WI. Address rep/& requests to Juda Z. Jorza, MD, Depaement of Surgery, Evanston Hospital, 2650 Ridge Ave, Evanston, IL 602011718. Copyrcght o 1996 by W. B. Saunders Company 0022-3468/9613105-0024$03.00/O 709
710
Fig 1. The patient at birth. Note the prolapsing mass, which was covered by reddish mucosa. toward the vagina also was evident.
JUDA
posterior Anterior
2. JONA
anorectal extension
trated by our case, which required reexcision of a residual mass at the primary surgical site. Ectopic gastric mucosa was identified on the anterior (opposite) side of the anus and in two mucosal nodules found later, which had to be removed. For larger tumors of the posterior rectal wall, the posterior sagittal approach may provide for a wider field of exposure, complete resection of the mass, and precise anatomic reconstruction of the rectum and the sphincteric mechanism. This was not necessary in our case. Our patient’s family history was unique because an older sister had been treated for esophageal neurenteric communication at our institution. Although most congenital tumors in the retrorectal area are presumed to be sacrococcygeal teratomas, occasionally a rectal duplication cyst will be found.
Fig 2. Sagittal magnetic resonance image. Note lumbar vertebral anomalies (I). The phylum terminalis is in the proper position. The coccyx (2) is free of involvement. Part of the posterior anorectal mass is apparent (arrows). The rectum (3) and bladder (4) also can be seen.
The association of complex anorectal malformation, sacral bony anomalies, and presacral mass (the socalled Currarino triad) has been recognized frequently.4V7 The findings and diagnosis in our case should not be confused with those with the Currarino triad. Teratomas of the rectal wall had been unknown until the report of this case and the one from South Africa, which attests to the rarity of this condition.
REFERENCES 1. Grosfeld JL, Ballantine TVN, Lowe D, et al: Benign and 5. Kirks DR, Merten DF, Filston HC, et al: The Currarino triad: malignant teratomas in children: Analysis of 85 patients. Surgery Complex of anorectal malformation, sacral bony abnormality, and 80:297-305, 1976 presacral mass. Pediatr Radio1 14:220-225, 1984 2. Grosfeld JL, Billmire DF: Teratomas in infancy and child6. Heij HA, Moorman-Voestermans CG, Vos A, et al: Triad hood. Current Probl Cancer 9:1-52,1985 of anorectal stenosis, sacral anomaly and presacral mass: A 3. Hadley GP, Jacobs C, Bairstows XX, et al: Unique gastroinremediable cause of severe constipation, Br J Surg 77:102-104, testinal tract teratomas in two female children. Presented and 1990 abstracted at the Czechoslovakia Congress of Paediatric Surgery, 7. O’Riordain DS, O’Connell PR, Kirwan WO: Hereditary Prague, Czechslovakia, July 29, 1991. sacral agenesis with presacral mass and anorectal stenosis: The 4. Currarino G, Coin D, Votteler T: Triad of anorectal, sacral Currarino triad. Br J Surg 78:536-538,199l and presacral anomalies. AJR 137:395-398,198l
WORDS:
Teratoma,
anorectal,
congenital.
ERATOMA in the posterior rectal area is presumed to be of sacrococcygeal origin. This is the report of a baby born with a large posterior anorectal mass that originated in the rectal wall and was not related to the coccyx. Teratomas of the gastrointestinal tract are rare, and to our knowledge none had occurred in the anorectal area.
T
CASE
REPORT
The patient was a full-term girl born to a gravida 3 mother, whose previous child (a girl) had neurenteric (esophageal) fistula of the thorax. At birth, a posterior perineal mass (Fig l), measuring 5 x 6 X 4 cm, was noted. It was covered with mucosa and contained two sinuses, 1 and 2 cm in depth. The initial clinical diagnosis was anorectal duplication. Diagnostic studies (radiograms, computed tomographic scans, and magnetic resonance imaging) demonstrated a posterior anorectal mass that was presented at the level of the coccyx but was not attached to it (Fig 2). No presacral or adnexal abnormalities were noted. The mass did not contain calcification. There were lumbosacral spine abnormalities; however, magnetic resonance imaging showed the conus to be at the appropriate level, without dysrhaphism. The serum alphafetoprotein level was not elevated. In the operating room, the patient was positioned in the modified dorsolithotomy position. The resection was performed entirely from the perineum because the top (superior) aspect of the mass had prolapsed and was readily visible. The posterior plane was developed on the external anal wall and advanced cephalad to remain within the confinement of the sphincter muscles. The circumferential dissection permitted total excision. The posterior anorectal defect that remained was closed by advancing the free rectal edge to the perineum. The rectoperineal repair was completed by simple suturing. A superficial tongue of rectal mucosa was found to extend anteriorly toward the posterior vaginal fourchette (Fig 1). This was not excised at that time. Histological examination showed that the mass was covered by columnar mucous-secreting epithelium (gastric type) that merged with nonkeratinizing, stratified, squamous epithelium of the perineum. Within the tumor, focal small intestinal mucosa with a few villi, covered by columnar cells with scattered goblet cells, were seen. A tall, columnar, ciliated epithelium was seen as well, interspersed with mucous-secreting glands; bronchial lumen or cartilage was not identified. Deeper tissues had a predominance of smooth muscle mixed with a variety of tissues including islands of cartilage, mature fat, islands of brown fat, portions of skeletal muscle, islands of clear polygonal cells with central nuclei resemJournalofPecfmtnc
Surgery,
Vol31,
No 5 (May),
1996: pp 709-710
bling adrenocortical cells, and one island of ectopic pancreatic tissue, complete with islands of Langerhans and the pancreatic duct. No glial tissue was identified, even with GFAP (glial fibrillary acidic protein) staining. Multiple sections showed no atypia, immaturity, or malignant changes. The final pathological diagnosis was benign mature teratoma. At 9 months of age, a 2-cm mucosa-covered nodule was seen protruding at the anocutaneous resection line posteriorly. This was treated by simple excision and repair. Histologically, this too was a mature teratoma. During this operation, the previously noted anteriorly protruding anal mucosa was excised. It was completely separated from the posterior teratomatous mass. Perineal excision of this extension was conducted similar to an anteriorly placed anus that requires anterior sphincteric repair and perineal body reconstruction. Histological examination showed that the mass was covered by ectopic gastric mucosa. Three months later, two small mucosal nodules were excised from the posterior anal verge region, and these yielded ectopic gastric mucosa on pathological examination. When the patient was last seen, it had been approximately 4 years since this excision; there was no evidence of recurrence or malignant transformation. Her rectal continence has been normal. DISCUSSION
Teratoma in the posterior anorectum is presumed to be of sacrococcygeal origin in most instances. To our knowledge, this is the first report of a primary anorectal wall teratoma presenting as a prolapsing posterior perineal mass at birth. Despite lumbosacral spine abnormalities, no communication or connection could be demonstrated between the mass and the coccyx, either by extensive radiological imaging or at the time of surgical excision. Gastrointestinal teratomas are rare and are localized principally in the stomach.‘j2 We are aware of a single additional case of a prolapsing polyp of the rectum, in a 2-year-old girl, which was found to be immature teratoma.3 Our patient’s lesion was based on the posterior anorectal wall and required minimal proctectomy and rectoperineal repair. A local residual perineal mass was excised later and found to be histologically similar to the original mass. All efforts must be undertaken to eradicate such tumors in toto; otherwise, recurrence or malignant transformation may appear. This fact is well illus-
From the Medical College of Wisconsin and the Department of Pedrattic Surgery Children’s Hospital of Wisconsin, Milwaukee, WI. Address rep/& requests to Juda Z. Jorza, MD, Depaement of Surgery, Evanston Hospital, 2650 Ridge Ave, Evanston, IL 602011718. Copyrcght o 1996 by W. B. Saunders Company 0022-3468/9613105-0024$03.00/O 709
710
Fig 1. The patient at birth. Note the prolapsing mass, which was covered by reddish mucosa. toward the vagina also was evident.
JUDA
posterior Anterior
2. JONA
anorectal extension
trated by our case, which required reexcision of a residual mass at the primary surgical site. Ectopic gastric mucosa was identified on the anterior (opposite) side of the anus and in two mucosal nodules found later, which had to be removed. For larger tumors of the posterior rectal wall, the posterior sagittal approach may provide for a wider field of exposure, complete resection of the mass, and precise anatomic reconstruction of the rectum and the sphincteric mechanism. This was not necessary in our case. Our patient’s family history was unique because an older sister had been treated for esophageal neurenteric communication at our institution. Although most congenital tumors in the retrorectal area are presumed to be sacrococcygeal teratomas, occasionally a rectal duplication cyst will be found.
Fig 2. Sagittal magnetic resonance image. Note lumbar vertebral anomalies (I). The phylum terminalis is in the proper position. The coccyx (2) is free of involvement. Part of the posterior anorectal mass is apparent (arrows). The rectum (3) and bladder (4) also can be seen.
The association of complex anorectal malformation, sacral bony anomalies, and presacral mass (the socalled Currarino triad) has been recognized frequently.4V7 The findings and diagnosis in our case should not be confused with those with the Currarino triad. Teratomas of the rectal wall had been unknown until the report of this case and the one from South Africa, which attests to the rarity of this condition.
REFERENCES 1. Grosfeld JL, Ballantine TVN, Lowe D, et al: Benign and 5. Kirks DR, Merten DF, Filston HC, et al: The Currarino triad: malignant teratomas in children: Analysis of 85 patients. Surgery Complex of anorectal malformation, sacral bony abnormality, and 80:297-305, 1976 presacral mass. Pediatr Radio1 14:220-225, 1984 2. Grosfeld JL, Billmire DF: Teratomas in infancy and child6. Heij HA, Moorman-Voestermans CG, Vos A, et al: Triad hood. Current Probl Cancer 9:1-52,1985 of anorectal stenosis, sacral anomaly and presacral mass: A 3. Hadley GP, Jacobs C, Bairstows XX, et al: Unique gastroinremediable cause of severe constipation, Br J Surg 77:102-104, testinal tract teratomas in two female children. Presented and 1990 abstracted at the Czechoslovakia Congress of Paediatric Surgery, 7. O’Riordain DS, O’Connell PR, Kirwan WO: Hereditary Prague, Czechslovakia, July 29, 1991. sacral agenesis with presacral mass and anorectal stenosis: The 4. Currarino G, Coin D, Votteler T: Triad of anorectal, sacral Currarino triad. Br J Surg 78:536-538,199l and presacral anomalies. AJR 137:395-398,198l