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A 42-Year-Old Woman With a 7-Month History of Abdominal Pain

2005; American Medical Association; Volume: 129; Issue: 12 Linguagem: Inglês

10.5858/2005-129-e218-aywwam

1543-2165

Hina A Sheikh, Uma Krishnamurti, Yasser M. Bhat, Swaminathan Rajendiran,

Uterine Myomas and Treatments

A 42-year-old woman presented to the gastroenterology clinic with a 7-month history of intermittent, cramping abdominal pain. It was associated with diarrhea alternating with constipation, vomiting, and a poor appetite, leading to an overall 23-kg weight loss. Past medical history was notable for a positive tuberculin test, for which she was receiving isoniazid. She was gravida 0, para 0. No abdominal masses were noted on physical examination. Computed tomography performed at an outside hospital demonstrated focal ileal thickening. Colonoscopy identified a soft mass in the cecum. Biopsy of the mass showed intact colonic crypt architecture with prominent lymphoid aggregates. Owing to persistence of symptoms, an ileocolonic resection was performed and sent for intraoperative evaluation. It consisted of a 35-cm segment of bowel. The small bowel was dilated to a circumference of 5.5 cm, owing to a 4 × 4 × 3-cm mass located at the ileocecal junction. The mucosa overlying the mass was grossly unremarkable. The cut surface showed a poorly demarcated, dense, gray-white fibrous lesion predominantly in the muscularis propria and subserosal adipose tissue, with foci of recent hemorrhage (Figure 1). The remainder of the specimen showed no abnormalities.Frozen and permanent sections of the lesion demonstrated multiple dilated glands within the muscularis propria (Figure 2). The glands were lined by a single layer of columnar cells with basally located, oval nuclei and were surrounded by an edematous spindle-cell stroma (Figure 2, inset). Some glands contained hemorrhagic luminal contents admixed with macrophages. The overlying small bowel mucosa showed intact crypt architecture with mild vascular congestion. No granulomas were seen.Of the 17 lymph nodes identified in the specimen, 2 showed foci of glandular epithelium surrounded by a spindled stroma, similar to those seen in the ileocecal mass (Figure 3). Two additional lymph nodes showed rare, cystically dilated glands in a subcapsular location with no appreciable surrounding stroma (Figure 4). The lining cells were low columnar with bland oval nuclei and occasional cilia (Figure 4, inset). Lamellated calcifications were noted in 1 gland lumen.What is your diagnosis?We present a case of endometriosis producing a mass lesion in the ileocecum in a middle-aged woman. This case illustrates a common clinical presentation and pitfalls in diagnosis of endometriosis involving the gastrointestinal tract. One interesting pathologic finding was the presence of benign glandular inclusions in 2 regional lymph nodes. Molecular mutational analysis, using multiple polymorphic markers associated with tumor suppressor genes, was performed on the ileocecal endometrioma and a benign glandular inclusion. Both lesions demonstrated no allelic imbalance in any of the markers tested, confirming their nonneoplastic nature. This case demonstrates that endometriosis should be considered in the clinical differential diagnosis of obstructive gastrointestinal symptoms in women of reproductive age and also in the histologic differential diagnosis of intranodal benign glandular inclusions.This 42-year-old woman presented with small bowel obstruction and significant weight loss, leading to a clinical concern for inflammatory bowel disease and malignancy. Although histologic diagnosis of the ileocecal mass was straightforward and rendered at the time of intraoperative evaluation, the clinical presentation was unusual, warranting a review of the literature on endometriosis of the gastrointestinal tract.Endometriosis is defined as the presence of ectopic endometrial glands and stroma outside the mucosal lining of the uterus. The overall prevalence is estimated to be 5% to 10% of women of childbearing age. The ovaries are the most common sites of involvement. Endometriosis has been reported in multiple organs, including the lungs, urinary bladder, pleura, and skin, although the incidence is lower at these extrapelvic sites.The gastrointestinal tract is the most common extrapelvic site of involvement, with most cases being reported in the rectosigmoid colon, followed by the rectovaginal septum, ileum, jejunum, and cecum. In a large study of more than 1500 patients with pelvic endometriosis diagnosed at laparoscopy, 5.4% also had gastrointestinal tract involvement.1 However, only 0.7% underwent bowel resection, most commonly because of intractable obstructive gastrointestinal symptoms or inability to clinically exclude malignancy. Interestingly, appendiceal endometriosis, representing less than 1% of all cases, was not associated with any symptoms. A case report describes ileocecal endometriosis in a 26-year-old woman presenting with intussusception and gastrointestinal hemorrhage.2 Similar to our case, histopathology showed serosal and subserosal endometrial implants without mucosal involvement. However, the cecal mucosa also showed ulceration and ischemic changes. Rarely, endometriosis involving the intestinal mucosal surface presents as a polypoid mass and hematochezia, and may cause diagnostic confusion with a primary colonic malignancy on endoscopic biopsy.3 Villous atrophy resulting in protein-losing enteropathy and anasarca is a less common clinical presentation.4Laparoscopy and laparotomy remain the gold standard for diagnosis. As illustrated by our case, most lesions are extramucosal to the gastrointestinal tract and therefore may not be identified by endoscopic biopsy procedures. Likewise, radiology may not show abnormalities until late in the disease process. Data concerning treatment options are limited to case reports and a few retrospective studies. Surgical resection appears necessary when complete obstruction occurs or malignancy is suspected. Ectopic endometrial tissue responds unpredictably to hormonal manipulation, and the exact role of medical treatment for extrapelvic disease is not known.The other interesting aspect of this case was the presence of benign glandular inclusions (BGIs) without the characteristic endometrial stroma in 2 lymph nodes. Two additional lymph nodes showed typical endometriotic foci. Benign glandular inclusions have been described in pelvic and para-aortic lymph nodes.56 They have been reported exclusively in women and classically are composed of cystically dilated glands lined by a single layer of cuboidal to columnar epithelium that is often ciliated (tubal type). Intraluminal secretions may be present, as can periglandular and intraglandular calcifications resembling psammoma bodies. In most cases, the glands are located within the fibrous capsule, in the cortex, or within the subcapsular sinus.5 Multiple theories have been proposed to explain BGIs in lymph nodes. Sloughing of fallopian tube epithelium within the peritoneum and subsequent lymphatic drainage to lymph nodes has led to the term endosalpingiosis being applied to these lesions. Although they do not have a stromal component, derivation from endometriotic tissue has been proposed as a possible mechanism, as has metaplasia of the secondary mullerian system of coelomic-derived peritoneum.Difficulties in differentiating BGIs from nodal metastases have been reported, as have rare cases of borderline and malignant serous tumors arising from BGIs.57 While much of the current literature considers BGIs to be benign lesions, their biologic significance is not entirely clear. Recently, Moore et al8 studied the clinicopathologic features of 62 patients with microscopic BGIs (referred to as mullerian inclusion cysts in their article) present in lymph nodes and peritoneum. Their results showed a high prevalence of these lesions in patients with tumors of the ovary (58% of all cases). Only 5 cases were associated with endometriosis alone. Because BGIs occur predominantly in para-aortic lymph nodes that drain the ovary, some authors hypothesize that these lesions could represent metastases of well-differentiated serous tumors. In a study of 6 serous borderline tumors of the ovary, k-ras oncogene mutations were seen in 2 primary tumors and their associated BGIs, giving weak support to this hypothesis.9 Diagnosis and management of BGIs in the absence of a primary ovarian tumor is unclear. In addition to the morphologic features discussed earlier, BGIs demonstrate estrogen- and progesterone-receptor positivity, which may provide some diagnostic utility.10 In our case, a polymerase chain reaction–based analysis was performed on 1 microdissected BGI and the epithelial component of ileocecal endometrioma to compare their molecular profiles and to evaluate for cumulative mutational damage. Using capillary gel electrophoresis, allelic ratios for 15 polymorphic markers associated with tumor suppressor genes were calculated. Loss of heterozygosity for each marker was defined when the allele ratio was greater than 2.0 or less than 0.5. Both the BGI and the ileocecal endometrioma showed no loss of heterozygosity in any of the markers tested, confirming their nonneoplastic nature and suggesting that, in this case, the BGIs may in fact have originated from foci of endometriosis.In summary, this case demonstrates that endometriosis should be considered in the clinical differential diagnosis of obstructive gastrointestinal symptoms in women of reproductive age and also in the histologic differential diagnosis of intranodal benign glandular inclusions.