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      Gist sincrónico con adenomioma gástrico: Reporte de caso y revisión de la literatura Translated title: Synchronous gist with gastric adenomyoma: Case report and literature review

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          Abstract

          RESUMEN Introducción: La colisión de dos tumores de diferente estirpe celular en un mismo órgano es infrecuente; a pesar de las asociaciones descritas en la literatura, el hallazgo de GIST con adenomioma en sincronismo, llama aún más la atención debido a sus distintos orígenes celulares. Reporte de caso: Presentamos el caso de una paciente mujer de 57 años de edad, quien es sometida a cirugía de resección doble en cuña, y distintos exámenes incluido el anátomo-patológico. Conclusión: Se demuestra la presencia de tumores sincrónicos, GIST gástrico y adenomioma gástrico, a pesar de la infrecuencia de este hallazgo.

          Translated abstract

          ABSTRACT Background: The collision of two tumors of different cell lines in the same organ is infrequent; even though, the associations described in the literature, the finding of synchronous GIST with adenomyoma draws even more attention due to its different cellular origins. Case report: We present the case of a 57-year- old female patient who underwent double wedge resection surgery and various examinations, including pathology. Conclusion: The presence of synchronous tumors, gastric GIST and gastric adenomyoma is demonstrated, despite the infrequency of this finding.

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          The NF1 somatic mutational landscape in sporadic human cancers

          Background Neurofibromatosis type 1 (NF1: Online Mendelian Inheritance in Man (OMIM) #162200) is an autosomal dominantly inherited tumour predisposition syndrome. Heritable constitutional mutations in the NF1 gene result in dysregulation of the RAS/MAPK pathway and are causative of NF1. The major known function of the NF1 gene product neurofibromin is to downregulate RAS. NF1 exhibits variable clinical expression and is characterized by benign cutaneous lesions including neurofibromas and café-au-lait macules, as well as a predisposition to various types of malignancy, such as breast cancer and leukaemia. However, acquired somatic mutations in NF1 are also found in a wide variety of malignant neoplasms that are not associated with NF1. Main body Capitalizing upon the availability of next-generation sequencing data from cancer genomes and exomes, we review current knowledge of somatic NF1 mutations in a wide variety of tumours occurring at a number of different sites: breast, colorectum, urothelium, lung, ovary, skin, brain and neuroendocrine tissues, as well as leukaemias, in an attempt to understand their broader role and significance, and with a view ultimately to exploiting this in a diagnostic and therapeutic context. Conclusion As neurofibromin activity is a key to regulating the RAS/MAPK pathway, NF1 mutations are important in the acquisition of drug resistance, to BRAF, EGFR inhibitors, tamoxifen and retinoic acid in melanoma, lung and breast cancers and neuroblastoma. Other curiosities are observed, such as a high rate of somatic NF1 mutation in cutaneous melanoma, lung cancer, ovarian carcinoma and glioblastoma which are not usually associated with neurofibromatosis type 1. Somatic NF1 mutations may be critical drivers in multiple cancers. The mutational landscape of somatic NF1 mutations should provide novel insights into our understanding of the pathophysiology of cancer. The identification of high frequency of somatic NF1 mutations in sporadic tumours indicates that neurofibromin is likely to play a critical role in development, far beyond that evident in the tumour predisposition syndrome NF1.
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            Collision tumor of the stomach: a case report of mixed gastrointestinal stromal tumor and adenocarcinoma.

            Collision tumors of the stomach are uncommon. To the best of our knowledge, this is the first case report of gastric collision tumor composed of gastrointestinal stromal tumor (GIST) intermixed with primary adenocarcinoma in the English literature. The adenocarcinoma was determined to be the primary tumor based on histologic features. The tumor cells of the GIST were diffusely and strongly positive for CD34 and CD117, weakly positive for smooth muscle actin (5% of cells), and negative for desmin, S-100 protein, synaptophysin, and cytokeratin. There was no transition between the different components. We hypothesized that the stomach was influenced by the same unknown carcinogen, resulting in a simultaneous proliferation of different cell lines (epithelial and stromal cell). This case represents an example of two independent tumors in a unique one-on-another pattern, namely growth of adenocarcinoma on GIST.
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              Synchronous primary adenocarcinoma and gastrointestinal stromal tumor in the stomach: a report of two cases.

              Synchronous occurrence of epithelial and gastrointestinal stromal tumors (GISTs) in the stomach is uncommon. This association has often been detected incidentally on gastric mucosa or serosa, or occasionally intramurally, at surgery or gastroscopy for other reasons. Various hypotheses have been proposed regarding this simultaneous development, and it is not known whether or not such an association is a simple incidental coexistence or whether the two lesions are connected by a causal relationship. In this article, we report two cases of synchronous development of stromal tumor and adenocarcinoma incidentally detected in the stomach in two elderly patients.
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                Author and article information

                Journal
                rcmhnaaa
                Revista del Cuerpo Médico Hospital Nacional Almanzor Aguinaga Asenjo
                Rev. Cuerpo Med. HNAAA
                Cuerpo Médico Hospital Nacional Almanzor Aguinaga Asenjo (Chiclayo, , Peru )
                2225-5109
                2227-4731
                April 2022
                : 15
                : 2
                : 277-279
                Affiliations
                [5] Chiclayo Lambayeque orgnameUniversidad de San Martín de Porres orgdiv1Facultad de Medicina Humana Peru
                [4] Chiclayo orgnameMINSA orgdiv1Hospital Regional de Lambayeque orgdiv2Servicio de Gastroenterología Perú
                [1] Chiclayo orgnameEsSalud orgdiv1Hospital Nacional Almanzor Aguinaga Asenjo orgdiv2Servicio de Anatomía Patológica Perú
                [2] Chiclayo orgnameEsSalud orgdiv1Hospital Nacional Almanzor Aguinaga Asenjo orgdiv2Servicio de Cirugía Perú
                [3] Chiclayo orgnameEsSalud orgdiv1Hospital Luis Heysen Inchaustegui orgdiv2Servicio de Radiología Perú
                Article
                S2227-47312022000200019 S2227-4731(22)01500200019
                10.35434/rcmhnaaa.2022.152.1198
                b43ed974-4595-4561-80ec-797691313f26

                This work is licensed under a Creative Commons Attribution 4.0 International License.

                History
                : 20 November 2021
                : 30 March 2022
                Page count
                Figures: 0, Tables: 0, Equations: 0, References: 15, Pages: 3
                Product

                SciELO Peru

                Categories
                Reporte de Casos

                Interstitial Cells of Cajal,Tumores del estroma gastrointestinal,células intersticiales de Cajal,adenomioma,Gastrointestinal Stromal Tumors,adenomyoma

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