Print version ISSN 2237-9363
J. Coloproctol. (Rio J.) vol.31 no.4 Rio de Janeiro Oct./Dec. 2011
Rafael Denadai Pigozzi SilvaI; Rogério Saad-HossneII; Rafael Aliceda FerrazI; Marcus de Medeiros MatsushitaIII; Roberto FalzoniIV; Fábio Vieira TeixeiraV
IAcademicians, Medical School of Universidade de Marília - Marília (SP), Brazil
IIAssistant Professor, Physician at the Department of Surgery and Orthopedics of the Medical School of Universidade Estadual Paulista (UNESP) - Botucatu (SP), Brazil
IIIDoctor and Professor, Department of Pathology of the Medical School of Universidade de Marília; Pathologist at the Associação Beneficente Hospital Universitário da Universidade de Marília (ABHU) - Marília (SP), Brazil
IVTechnical Director, Service of Surgical Pathology of the Division of Anatomical Pathology at the Clinical Hospital of the Medical School of Universidade de São Paulo (HC-FMUSP) - São Paulo (SP), Brazil
VGuest Professor, Doctor at the Department of Surgery and Orthopedics, Medical School of UNESP - Botucatu (SP), Brazil; Physician at UNIGASTRO - Marília (SP), Brazil
Leiomyomas of the rectum are rare, with low reported incidence in literature. In most cases, patients are asymptomatic, and are often incidental endoscopic findings. The difficult distinction from leiomyosarcomas, associated with the possibility of recurrence, implies the absence of a standard treatment. Endoscopic resection, if well indicated, may be a therapeutic option. In this study, we report two cases of asymptomatic leiomyoma of the rectum in two patients, discovered incidentally during a routine colonoscopy, removed by conventional polypectomy and discuss its diagnostic and therapeutic aspects based on a literature review.
Keywords: rectal neoplasm; leiomyoma; colonoscopy.
Os leiomiomas de reto são raros, com baixa incidência relatada na literatura; na maioria dos casos os pacientes são assintomáticos, sendo que em muitos casos são achados incidentais endoscópicos. A dificuldade de distinguí-los dos leiomiossarcomas, aliada a possibilidade de recorrência, implica na inexistência de um tratamento padrão. A ressecção endoscópica desde que bem indicada pode ser uma opção terapêutica. Reportamos dois casos de leiomioma de reto assintomáticos em dois pacientes, descobertos casualmente durante exame colonoscópico de rotina, removidos por polipectomia convencional e discutimos seus aspectos diagnósticos e terapêuticos, através de uma revisão da literatura.
Palavras-chave: neoplasia retal; leiomioma; colonoscopia.
Leiomyoma and leiomyosarcoma, tumors of smooth muscle, can occur in the whole gastrointestinal tract1-3, affecting more frequently organs such as the stomach (65%) and small bowel (25%)4 and rarely found in the rectum1,5-14.
Leiomyoma of the rectum occurs in approximately 1 out of 2,000-3,000 rectal tumors4,8 and, although such occurrence is rare, many cases have been reported in the literature1,4-14 since its first histopathological confirmation described by Malassez in 18724.
These tumors are originated in the smooth muscle fibers of mucosa or muscular fibers of the circular and longitudinal layers of the rectal wall4,8,12,15,16 or blood vessel walls4,12,16. They occur especially in the distal two-thirds of the rectum13,15 and tend to present intraluminal growth7.
Most cases are asymptomatic1,9,10,17,18, and for this reason, found incidentally while performing endoscopic procedures1,3,5,9,10,16,18,19.
The difficult distinction from leiomyosarcoma, associated with the possibility of recurrence, implies the absence of a standard treatment9,11.
The purpose of this study was to report the authors' experience with endoscopic resection in two cases of leiomyoma of the rectum found incidentally during a colonoscopy and discuss its diagnostic and therapeutic aspects based on a literature review.
A 39-year-old male patient, was sent for investigation of a lower gastrointestinal bleeding that had started one year before. He reported that the bleeding was sporadic after evacuating, noticed during anal cleansing, with streaks of blood on the toilet paper, without any other associated symptom. General and abdominal examinations showed no alteration. The proctologic examination showed first-degree hemorrhoid. No tumor was evidenced with digital rectal examination. To better elucidate the situation, the patient was submitted to colonoscopy, which detected a sessile polypoid lesion, of smooth surface, around 4 mm diameter, with no alterations to the mucosa and no signs of lower rectal bleeding (Figure 1A). A loop polypectomy was performed, without complications. The patient was discharged one day after the procedure.
A 56-year-old male patient came in with rectal pain at evacuation for 6 months. He reported burning sensation of moderate intensity, caused by evacuation and relieved after passing stool. He denied any history of bleeding or other associated symptoms. General and abdominal examinations showed no alteration. The proctologic examination showed a chronic anal fissure in the posterior midline. The digital rectal examination did not detect any tumor. Colonoscopy showed a sessile polyp of 5 mm diameter, smooth surface, no alterations to the mucosa and no signs of upper rectal bleeding (Figure 1B). The endoscopic resection of the lesion (loop polypectomy) was performed, without complications. The patient was discharged one day after the procedure.
The two dissected specimens were submitted to an anatomopathological analysis. Macroscopically, they presented uniform whitish color and consistency. No area with necrosis or cystic alterations were observed.
In both lesions, both showed in microscopy mucosa of colonic pattern without interruption. In the first, the glass plate showed proliferating smooth muscle cells, with relatively abundant cytoplasm, and arranged in crossed-over bundles. The nuclei were elongated and regular, with delicate and evenly distributed chromatin, without evidence of necrosis. The second presented crossed-over bundles of smooth muscle cells in the submucosa, individually uniform, with elongated nuclei and smooth margins, located in the cell nuclei, with no areas of necrosis. In both dissected specimens, the margins did not present neoplasm, and no mitosis was observed in ten high-resolutions fields.
At the immunohistochemical analysis, the tumors were positive for smooth muscle actin and desmin and negative for CD117 (c-kit) (Figures 2A-D).
Both patients are now receiving outpatient care, with no symptoms and signs of local recurrence, as well as no colon lesions in colonoscopy examinations made in the follow-up period.
Leiomyoma of the rectum represents only 3% of all gastrointestinal leiomyoma1, and less than 0.1% of rectal tumors1,4,8.
So far, the most important compilation of anorectal tumors of smooth muscle (432 leiomyoma and 480 leiomyosarcoma) found in worldwide literature has been that published by Hatch et al.7, in 2000. In Brazil, few cases of smooth muscle tumors of the rectum have been described15,16,18,20-24.
In general, these tumors occur more predominantly in individuals between 40 and 59 years old7. This study investigated two male patients and, in the case compilation made by Hartch et al.7, the probability that men will develop anorectal benign and malign tumors of smooth muscle was a little higher than in women7. Regarding the wall location, there seems to be no significant difference when comparing leiomyoma and leiomyosarcoma7.
The clinical manifestations vary with the size, location and direction of the tumoral growth1. Most patients are asymptomatic1,9,10,17,18; discomfort or local pain, associated or not with defecation, palpable mass, sensation of a strange body, changes in intestinal habit and rectal bleeding1,3,9,15,16,18 are sporadically reported in the literature1,9,25,26. Usually, when symptomatic, the tumors are diagnosed within one year of symptom onset7. As in the cases reported in this study, most tumors are intraluminal and sessile1,5,6 and may occasionally present a pedicle1,5,10.
In both cases described here, the patients had proctologic complaints - the first was related hemorrhoid and the second to a chronic anal fissure -, and these findings are similar to those in the literature, where most lesions are incidentally diagnosed, through digital rectal examination or endoscopy1,3,5,9,16-19, before the patients had any complaint1,5,17.
Besides colonoscopy, some examinations can help in the lesion diagnosis and staging: opaque enema, colonoscopy, computed tomography, magnetic resonance and endoanal ultrasound1,9,11,15,16,18. Therefore, the histopathological analysis will determine the sure diagnosis and the distinction between benign and malign lesions11,16,21.
Particularly when the lesion is in the rectum, the endoanal ultrasound can help define the lesion extent (size, number and layer it originated)1,7,11,14,18,21. It can also help distinguish benign from malign disease (rupture of normal tissue planes, cystic degeneration and lymphadenopathy)7,11,14,19.
Differential diagnosis includes schwannomas, carcinoid tumors, neurofibroma, hemangioma, endometriosis, lipomas, melanoma, and especially gastrointestinal stromal tumors (GISTs) and leiomyosarcoma6,16,27. The distinction of these lesions is essential, as it affects the proper therapy selection14,19,27, as each lesion has specific clinical and pathological characteristics6,27.
Histologically, leiomyomas differ from GISTs due to their uniform positivity in immunohistochemistry for smooth muscle actin and desmin and their negativity for CD34 and CD117 (c-kit), unlike the GISTs1,5,6,14,16,19,27.
On the other hand, differing leiomyomas from leiomyosarcomas is often difficult2,7-9,13,14-16,19,21,25-28. In histology, leiomyosarcomas present differentiated smooth muscle cells6,14; most of them of high-degree type, with focal pleomorphism and increased mitotic activity6,27, and presenting the same immunohistochemical pattern as that of leiomyomas6,27.
However, no criteria have been established to determine the malignity of these tumors19,21. Then, certain characteristics suggest the malignity degree, including the tumor size (>5 cm), histological aspect (necrosis of tumor cells, ulceration and cell atypia), and the number of mitotic figures per 10 high-power fields1,8,14,15,18,19,27,28. From these, the latter is the most important malignity criterion7,14,16; tumors of less than two mitoses per 10 fields offer good prognosis; however, if two or more mitoses are found, the tumor is usually considered as malign7,19. Therefore, a complete analysis of the resected specimens is essential for malignity diagnosis and correct selection of treatment plans27.
Due to the difficult distinction between benign and malign tumors2,7-9,13-16,19,21,27, possibility of recurrence7-9,11-13,16,19,21,25,29 and insensitivity of these tumors to adjuvant therapies7,8,14-16,18,19,28, most authors recommend the surgical removal of the tumor3,7,8,11-19,29-31, either through open15,16,18,21 or endoscopic procedure1,2,5,10,12,21,32,33.
The surgical treatment should ensure tumor-free margins1,18. The options include transanal excision, endoscopic resection, lower anterior resection or abdominoperineal amputation7,9,15,19.
In both cases, endoscopic resection of the lesion was considered a therapeutic procedure, as the margins were free of neoplasm, and the tumors were smaller than 5 cm, without necrosis, ulceration and cell atypia, and the number of mitoses per 10 high-power fields was less than two1,8,14-15,19,27,28.
Some cases using endoscopic resection of rectal leiomyoma have been described2,10,12,32,33. This approach is a valid alternative to invasive surgery when the complete removal of the lesion is ensured5,32. However, it may lead to hemorrhage and perforation1,2,32,34.
Therefore, endoscopic resection is improper to leiomyosarcoma and leiomyoma of >2 cm diameter or originated in the muscularis propria, due to the risk of hemorrhage and perforation32. Thus, it is extremely important to determine the layer of lesion origin32. In this context, endoscopic ultrasound will help decide about the proper surgical procedure1,7,11,14,18,34, as the distinction from the lesion origin layer is important for the proper surgical planning2,11,14,34. Usually, leiomyomas originated in the muscularis mucosa can be endoscopically resected, while for those originated in the muscularis propria, this procedure should be avoided34. Unfortunately, this procedure was not performed in the patients of this study.
Prognosis is uncertain for these tumors25, due to the recurrence rate7-9,11-13,16,19,21,25,29, and the short follow-up period for the cases reported above5,7,15,21,25. Then, extended follow-up is important to confirm a disease-free status2,5,7,14,15,18,19,21. The postoperative follow-up can include tomography, flexible digestive endoscopy and endoanal ultrasound4,14,19,21.
We have concluded that leiomyoma in the rectum is rare, usually asymptomatic, and that it should be distinguished from GISTs and leiomyosarcoma. For this purpose, histological and immunohistochemical analyses of the whole specimen should be performed by a pathologist with experience in this type of lesion. Endoscopic resection is an therapeutic option, since it enables the complete removal of the tumor.
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Fábio Vieira Teixeira
Serviço de Endoscopia, Cirurgia do Aparelho Digestivo e Coloproctologia - UNIGASTRO
Rua Dr. Próspero Cecílio Coimbra, 80, Cidade Universitária
CEP 17525-160 - Marilia (SP), Brazil
Submitted on: 08//11/2010
Approved on: 10/27/2010
Financing source: none.
Conflict of interest: nothing to declare.
Study carried out at the Service of Endoscopy, Digestive Tract Surgery and Coloproctology at UNIGASTRO, Associação Beneficente Hospital Universitário (ABHU) - Marília (SP), Brazil.