Año 2024 / Volumen 116 / Número 4
Carta
Mucosal Schwann cell hamartoma: a benign and little-known entity

223-224

DOI: 10.17235/reed.2023.9652/2023

Violeta Mauriz Barreiro, Marta Ramos Alonso, Martín Fernández López, Diana Alejandra Rivera Castillo, Cristina Durana Tonder, Carmen Pradera Cibreiro,

Resumen
Dear editor, 50 years-old female with personal history of mutation of the gene BRCA1 and previous prophylactic double anexectomy consulted for rectal bleeding without pain since two weeks. A blood test was performed, with hemoglobin levels of 13.1g/dl and without iron deficiency. In the anal inspection there were neither external hemorrhoids nor anal fistulas, so a colonoscopy was requested. In the colonoscopy, all the colon mucosa was normal but, in the rectal retroflexion, apart from internal engorged hemorrhoids, surrounding the 50% of the anal opening an erythematous and indurated mucosa was found (figure 1). Biopsies were taken. The pathology report informed of proliferation of spindle-shaped cells exclusively in the lamina propria with eosinophilic cytoplasm and unclear cell borders (figure 2). Not nuclear atypia or mitotic activity were observed. On immunohistochemistry, S-100 protein was strongly positive (figure 3) and CD34, SMA, EMA and c-kit were negative. These results are concordant with the diagnosis of Schwann cells in the context of a mucosal Schwann cell hamartoma (MSCH). Given that these lesions seem to not have malignant potential, the patient was discharged without control colonoscopies. The episodes of rectorrhagia were attributed to the presence of internal hemorrhoids. Discussion: MSCH are benign and intramucosal tumors with a mesenchymal origin. They are most commonly located in the distal colon, but they were also found in the gallbladder, the esophagogastric union and in the antrum. They are observed most frequently in middle aged women (around 60 years-old) and they are generally asymptomatic. They are presented as polyps between 1 and 6mm, but in other cases they appeared as small whitish nodules, protruding lesions with normal superficial mucosa or even they were found in random biopsies of the colon. The MSCH are a rare entity with an unknown prevalence. Less than 100 cases are described in the literature. It is essential the differentiation between this entity and the Schwanomas or the gastrointestinal stromal tumors (GIST). Schwanomas are rare in the colon, they are well circumscribed (in contrast with the MSCH) and they are not limited to the lamina propria. GIST are more frequently located in the stomach and they are positive for c-kit. MSCH are not associated with hereditary syndromes such as neurofibromatosis and, in contrast with Schwanomas or GIST, they do not require surveillance because they are benign.
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Bibliografía
1. Chintanaboina J, Clarke K. Case of colonic mucosal Schwann cell hamartoma and review of literature on unusual colonic polyps. BMJ Case Rep. 2018 Sep 21;2018:bcr2018224931. doi: 10.1136/bcr-2018-224931. PMID: 30244220; PMCID: PMC6157549.
2. Okamoto T, Yoshimoto T, Fukuda K. Multiple non-polypoid mucosal Schwann cell hamartomas presenting as edematous and submucosal tumor-like lesions: a case report. BMC Gastroenterol. 2021 Jan 19;21(1):29. doi: 10.1186/s12876-021-01607-w. PMID: 33468041; PMCID: PMC7816477.
3. Vaamonde-Lorenzo M, Elorriaga K, Montalvo I, Bujanda L. Colonic mucosal Schwann cell hamartoma. J Dig Dis. 2020 Aug;21(8):475-477. doi: 10.1111/1751-2980.12874. Epub 2020 Jun 11. PMID: 32378790.
4. García-Molina F, Ruíz-Macia JA, Sola J. Hamartoma de células de Schwann mucoso: revisión de una entidad descrita recientemente [Mucosal Schwann cells hamartoma: Review of a recently described entity]. Rev Esp Patol. 2018 Jan-Mar;51(1):49-54. Spanish. doi: 10.1016/j.patol.2017.03.003. Epub 2017 May 15. PMID: 29290324.
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Mauriz Barreiro V, Ramos Alonso M, Fernández López M, Rivera Castillo D, Durana Tonder C, Pradera Cibreiro C, et all. Mucosal Schwann cell hamartoma: a benign and little-known entity. 9652/2023


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Ficha Técnica

Recibido: 10/04/2023

Aceptado: 19/04/2023

Prepublicado: 28/04/2023

Publicado: 09/04/2024

Tiempo de prepublicación: 18 días

Tiempo de edición del artículo: 365 días


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