| Autor: |
Danilo Toshio KANNO, Roberta Lais Mendonça de MATTOS, Fábio Guilherme CAMPOS, Rayama Moreira SIQUEIRA, Rita Barbosa de CARVALHO, Carlos Augusto REAL MARTINEZ |
| Jazyk: |
English<br />Portuguese |
| Rok vydání: |
2023 |
| Předmět: |
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| Zdroj: |
ABCD: Arquivos Brasileiros de Cirurgia Digestiva, Vol 35 (2023) |
| Druh dokumentu: |
article |
| ISSN: |
0102-6720 |
| DOI: |
10.1590/0102-672020220002e1702 |
| Popis: |
ABSTRACT BACKGROUND: Plexiform neurofibromas represent a common neoplasia of type 1 neurofibromatosis in which neurofibromas arise from multiple nerves involving connective tissue and skin and rarely affect the colon and rectum. Co-occurrence of plexiform neurofibromas, neuroendocrine tumors with primary involvement of the rectum, and medullary thyroid carcinoma in patients with neurofibromatosis type 1 is a previously undescribed condition. The aim of this manuscript was to present a case of primary plexiform neurofibroma and neuroendocrine tumors of the upper rectum in a patient with neurofibromatosis type 1 whose genetic sequencing found a novel mutation in the neurofibromatosis type 1 gene and to review the literature. CASE REPORT: A 49-year-old woman with a familial history of neurofibromatosis type 1 complained of abdominal cramps for 6 months. She had previously been submitted for a total thyroidectomy due to medullary thyroid carcinoma. She was submitted to a colonoscopy, which identified a submucosa lesion located in the upper rectum. The patient was referred for a laparoscopic rectosigmoidectomy, and the histopathological study of the surgical specimen identified two different tumors. An immunohistochemical panel was done for histopathological confirmation of the etiology of both lesions. The results of the panel showed intense immunoexpression of S100 protein in the largest and superficial lesion, as well as positivity for chromogranin and synaptophysin in the minor and deep lesion confirming the diagnosis of rectal plexiform neurofibromas concomitant with neuroendocrine tumors. The proliferative activity rate using Ki-67 antibodies showed that both tumors had a low rate of mitotic activity ( |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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