Neurofibromatosis Type 1–Associated Inflammatory Polyp of the Gastrointestinal Tract

Goto, Keisuke; Hirosaki, Takuya; Masubuchi, Mariko

doi:10.1177/1066896916648772

Cited by 6 publications

(8 citation statements)

References 7 publications

(16 reference statements)

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“…Also in contrast to typical IFP, this lesion was associated with prominent, reactive, mucosal changes, including numerous superficial ulcerations and the presence of dilated and distorted entrapped glands, lined by hyperplastic mucus-secreting epithelial cells, responsible for the “juvenile-like appearance” presented as distinctive. 2,5 There is also some overlap in immunohistochemical features. CD34, frequently expressed in IFP, was negative in most cases reported as “juvenile-like (hyperplastic/inflammatory) mucosal polyps’, but was positive in our case, as in previous ones.…”

Section: Discussionmentioning

confidence: 99%

“…CD34, frequently expressed in IFP, was negative in most cases reported as “juvenile-like (hyperplastic/inflammatory) mucosal polyps’, but was positive in our case, as in previous ones. 5 PDFGRA mutations are typically associated with IFP. 12 No PDFGRA mutation was detected in our case, as well as in the 2 previous cases of “juvenile-like (hyperplastic/inflammatory) mucosal polyps’ for which this information is available.…”

Section: Discussionmentioning

confidence: 99%

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NF1-Associated Inflammatory Polyp of the Colon: First Report of a Sporadic Case

et al. 2022

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“Juvenile-like (hyperplastic/inflammatory) mucosal polyp” is a term proposed for rare benign mesenchymal lesions of the gastro-intestinal tract so far reported only in patients with type 1 neurofibromatosis (NF1). We report here a first sporadic case of NF1-associated mucosal inflammatory polyp of the colon. The diagnosis was made in a 53-year old female patient with a large polypoid tumor of the cecum. The lesion was predominantly mucosal, made of fibroblast-like cells associated with inflammatory infiltrates rich in eosinophils and containing entrapped, distorted epithelial glands, responsible for the juvenile-like appearance. Whole exome sequencing showed a pathogenic variant of NF1. The patient had no evidence of NF1; no NF1 mutation was detected in normal tissues. Our observation may support the existence of juvenile-like inflammatory polyps associated with NF1 alterations, either germline or somatic. This justifies to test NF1 in difficult-to-classify gastrointestinal mesenchymal tumors.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

NF1-Associated Inflammatory Polyp of the Colon: First Report of a Sporadic Case

et al. 2022

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“…12 Si bien la prevalencia del compromiso gastrointestinal en la NF-1 es frecuente, la asociación de esta enfermedad con PFI, como en el caso presentado, ha sido poco descrita. 13 El PFI es una lesión generalmente única y de aspecto polipoide que se localiza en la zona alta de la submucosa o la porción más profunda de la mucosa digestiva. Está constituido por una proliferación mal circunscrita de células fusiformes y fibras conjuntivas dispuestas concéntricamente alrededor de capilares y un grado variable de infiltrado inflamatorio con eosinófilos.…”

Section: A B Discusiónunclassified

Manifestaciones gastrointestinales en neurofibromatosis tipo 1. Reporte de un caso

Méndez¹,

Oricchio²,

Pontet³

et al. 2020

Acta gastroenterol. latinoam.

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Neurofibromatosis type 1, also known as von Recklinghausen disease, is an inherited neurocutaneous disorder with gastrointestinal involvement in 5-25% of the patients, which develops following cutaneous manifestations. Only 5% have symptoms such as abdominal pain, diarrhea, palpable mass, bleeding, obstruction or intestinal perforation. There is an increased risk of developing digestive malignancies, frequently in the small bowel. The following report presents the case of a patient with neurofibromatosis type 1, with the diagnosis of a jejunal gastrointestinal stromal tumor and a fibroid inflammatory polyp in the context of gastrointestinal bleeding.

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“…Hyperplastic/nonadenomatous gastrointestinal polyps in the setting of NF-I have been reported in 16 patients in the literature written in English language [ 8 , 15 ]. Of these, only 7 patients had gastric/GEJ lesions which are summarized in Table 1 .…”

Section: Literature Reviewmentioning

confidence: 99%

Coexistence of Juvenile-Like Polyp with Neurofibroma at the Gastroesophageal Junction in an Adult with Neurofibromatosis Type I

Aijaz

Draganov

Iqbal

et al. 2017

Case Reports in Pathology

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A 23-year-old Caucasian male with Neurofibromatosis Type I (NF-I) was found to have a submucosal nodule at the gastroesophageal junction (GEJ) and underwent endoscopic submucosal dissection. Histological examination revealed two different lesions within the nodule. The dominant lesion was inflammatory/hyperplastic (juvenile-like) polyp with obliterative vasculopathy while the smaller lesion was a neurofibroma. Gastric/GEJ lesions in NF-I are very rare with only seven cases reported in the literature. Three cases of juvenile-like gastric polyps (located in the antrum, greater curvature, and fundus) have been reported in adult NF-I patients. An inflammatory polyp associated with a neurofibroma has only been described once in the pediatric literature but never in an adult. Our case is unique from those previously described in the literature due to the age of the patient, the presence of 2 histologically separate lesions in one endoscopically evident lesion, and the presence of obliterative vasculopathy in the juvenile-like polyp.

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Neurofibromatosis Type 1–Associated Inflammatory Polyp of the Gastrointestinal Tract

Cited by 6 publications

References 7 publications

NF1-Associated Inflammatory Polyp of the Colon: First Report of a Sporadic Case

NF1-Associated Inflammatory Polyp of the Colon: First Report of a Sporadic Case

Manifestaciones gastrointestinales en neurofibromatosis tipo 1. Reporte de un caso

Coexistence of Juvenile-Like Polyp with Neurofibroma at the Gastroesophageal Junction in an Adult with Neurofibromatosis Type I

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