Peritoneal Pseudomyxoma in a Child With a Gallbladder Peutz- Jeghers-Like Hamartomatous Polyp: A Case Report

By Pablo GuzmBn, lv6n Roa, Miguel Villaseca, Juan Carlos Roa, and Juan Carlos Araya Temuco, Chile

A Z-year, g-month-old boy with peritoneal pseudomyxoma had a hamartomatous Peutz-Jeghers-like polyp in the gall- bladder. The morphological pattern of the polyp was very characteristic of what is usually considered an hamartoma- tous polyp. The patient presently reported has no clinical characteristics of Peutz-Jeghers syndrome. The peritoneal pseudomyxoma creates differential diagnostic problems with

well-differentiated mutinous adenocarcinoma. J Pediarr Surg 33:1320-1322. Copyright 0 1998 by W. B. Saunders Company.

INDEX WORDS: Peutz-Jeghers, gallbladder, pseudomyxoma, hamartomatous, polyp.

P OLYPOID MASS is a morphological term used to designate any well-delimited tumor projecting over

a mucosal surface. On the other hand, hamartoma is known as a tumoral malformation of orthotopic tissue.

Gallbladder polyps commonly are adenomas, nonepi- thelial tumors (ie, leiomyoma, lipoma), or pseudotumoral lesions (ie, adenomyoma, epithelial hyperplasia, choles- terol polyp, or pseudoinflammatory polyp). Gallbladder polyps frequency is difficult to determine. According to some literature, gallbladder polyps are present in 0.7% of cholecystectomy specimens.’ The following report de- scribes a case of a hamartomatous polypoid lesion in a child.

CASE REPORT

A 2-year, 6-month-old boy suddenly had progressive ascitis and hepatomegaly. Echotomographic examination demonstrated free liquid in the peritoneal cavity, and gallbladder was excluded. Abdominal fluid was hemorrhagic, and it had exudate characteristics. Abdominal com- puted tomography (CT) scan showed a 5-cm, relatively well-delimited solid and cystic mass in the gallbladder area (Fig 1). Moreover, intratumoral calcifications were demonstrated.

At surgical intervention, 2 L of hemorrhagic and mutinous liquid was found within the peritoneal cavity. Furthermore, a large tumoral lesion was found in the gallbladder area. This mass was leaking into the peritoneal cavity and appeared partially covered by omentum. Lesion was excised in bloc. Other abdominal organs, including vermifonu appendix, were totally normal. The postoperative course was satisfac- tory. One year later, the patient is in good health.

The surgical specimen included a 9.5-cm long gallbladder, focally

perforated and having multiple adhesions on the external surface. The gallbladder wall measured 1 to 2 mm in thickness. Its internal surface contained a large exophytic well-circumscribed, papilliform tumoral lesion of 5.5 X 5 X 2.5 cm (Figs 2A and 2B) in the body of the gallbladder. The tumoral surface was covered by abundant mucous material. The polypoid lesion consisted of solid tissue, brilliant, white to yellowish, with large myxoid areas, and multiple calcification foci. No necrosis or hemorrhage was found. However, adjacent and distant mucosa had an atrophic pattern. There were no gallstones, and no other exophytic lesions were seen.

Light microscopy showed that the lesion consisted of epithelial proliferation constituted by multiple glandlike and papillary structures. They were covered by a single layer of mucin-producing tall columnar epithelium with a high proportion of goblet cells (Figs 3A and 3B). Papillary structures were numerous, and the stroma consisted of delicate fibrovascular tissue with smooth muscular fibers. There was no evidence of dysplasia, cellular atypia, or mitotic activity. Moreover, large edematous areas were demonstrated intermixed with dystrophic calcification. Distant gallbladder wall showed hyaline changes and severe atrophy of mucosa. Myxomatous changes were seen in adipose tissue on external surface of gallbladder and extensively on omentum.

Immunohistochemistry for tumor suppressor gene ~53 protein was negative. DNA cytometry of the lesion showed a diploid DNA content.

DISCUSSION

From the Pathology Unit, L.a Frontera University School of Medi- cine, Temuco, Chile.

Partially funded by grant FONDECYT 1970851. Address reprint requests to Juan Carlos Araya, MD, Pathology Unit,

La Frwntera University School of Medicine, PO Box 54-D. Manuel Montt 112, Temuco, Chile.

Copyright o 1998 by WB. Saunders Company 0022-3468/98/3308-0033$03.00/0

The digestive hamartomatous polyps have been de- scribed mainly in small intestine, bowel and stomach. They usually measure between 0.5 to 3.5 cm of diameter. They can be sessile or pedunculated, and the basic histological architecture is central branching smooth muscle that emerge from the muscularis mucosa layer, which is covered by glandular epithelium that is similar to the normal epithelium of the intestine.2 They can be associated with or without the Peutz-Jeghers syndrome, which is an autosomal dominant disorder with incom- plete penetrance. This syndrome consists of gastrointesti- nal hamartomatous polyps associated with mucocutane- ous pigmentation. Patients have an increased risk for gastrointestinal carcinomas (2% to 20%) and nongastroin- testinal carcinomas (10% to 30%). The most frequent of the nongastrointestinal tumor locations are pancreas,

1320 Journal of Pediatric Surgery, Vol33, No 8 (August), 1998: pp 1320-1322

HAMARTOMATOUS POLYP IN GALLBLADDER 1321

hood, whereas the buccal macules remain unchangeda The patient presently reported does not have clinical characteristics of this syndrome. Moreover, there are no relatives having this syndrome in his family history. However, the morphological pattern of the polyp was very characteristic of what is usually considered a hamartomatous polyp. Forty percent of Peutz-Jeghers cases are thought to be caused by new mutations. No exact genetic mutation for Peutz-Jeghers syndrome has been identified. However, there has been recent linkage to the short arm of chromosome 19. This current work suggests that it may be possible in the near future to test for a mutation in this child and his family.4x5

Pseudoinvasion, which is seen with a frequency of up to 10% in Peutz-Jeghers polyp, is also observed in this patient. Pseudoinvasion has been defined as the presence of epithelial islands, disposed like distorted tubules, located at any level of the intestinal wall or peduncle of the polyp. It is more frequent in small intestinal polyps. Also, pseudoinvasion is more frequent in polyps greater than 3 cm. Moreover, this characteristic has never been reported in gastric or colorectal mucosa lesions. Its pathogenesis is believed to have some relationship with torsion of the pedicle with focal hemorrhage and infarc- tion. These changes would provoke damage in the muscular layer that facilitates the hamartomatous tissue migration toward the subserosa or to the base of the polyp. Useful in the histological discrimination with adenocarcinoma are lack of cytological atypia, presence of normotypic epithelium with good histological differen- tiation, hemosiderin deposits, mucous lakes, absence of periglandular desmoplastic reaction, areas of dystrophic calcification, and a basement membrane surrounding the epithelial islands.6

Epithelial invaginations become very deeply located and they continue producing mucous secretions. If these glands leak mucus into the interstitium as a consequence of epithelial disruption, they could lead to mural mucus deposits. This phenomenon has been mentioned in jejuni- tis cystica profunda,’ characterized by downgrowth of small intestinal epithelial with continued mucus produc- tion. A similar mechanism could be playing a major role in the peritoneal pseudomyxoma expressed in this case. Peritoneal pseudomyxoma is a clinical condition in which abundant mutinous material is accumulated in the abdominal cavity,s and a cause-effect between hamarto- matous polyp and peritoneal pseudomyxoma can be stated. Peritoneal pseudomyxoma is commonly associ- ated with ovarian tumors of borderline malignancy (44%), ovarian cystoadenocarcinoma (39%), and appen- diceal cystoadenocarcinoma ( 17%),g none of which were presented in this patient.

Herein is described a young boy harboring a large (5

Fig 1. Abdominal CT scan shows a well-delimited solid cystic mass in the gallbladder zone. Thick parietal calcifications suggested hydatid cyst, but the solid component incorporating contrast me- dium suggested a tumoral lesion.

lung, breast, ovary, and uterus.* Skin and mucosal lesions consist of brown or black-bluish macules on the lips and in the mouth and less frequently on the dorsal surface of the hands and feet. Pigmentation is rarely present at birth and usually appears after the first or second year of life. The skin and lip pigmentation fades gradually in adult-

Fig 2. The entire gallbladder was submitted for surgical pathology analysis. The gallbladder wall was 1 to 2 mm thickness with a large axophytic, well circumscribed, papilliform tumoral lesion. (A) The tumoral lesion was extensively covered by mucous material. (B) The polyp was solid with abundant myxoid areas and multiple calcifica- tion foci, without necrosis or hemorrhage.

1322 GUZMAN ET AL

Fig 3. Tumoral lesion was an epithelial proliferation constituted by multiple glandlike and papillary structures. They were covered by a single layer of mucin-producing tall columnar epithelium with abundant goblet cells. (A) Stroma consisted of delicate connective tissue and smooth muscle fibers. (6) Myxomatous changes in external surface of gallbladder and omentum were extensively seen.

cm) hamartomatous polyp of the gallbladder that is case is particularly interesting because of its pathogenic associated with massive ascitis and peritoneal pseudo- considerations and clinical implications. lo Peritoneal pseu- myxoma. To our knowledge, it is the first time that this domyxoma outlines differential diagnosis problems with type of gallbladder polyp is reported in the literature. The well-differentiated mutinous adenocarcinoma.

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