Neurofibromatosis Type 1–Associated Inflammatory Polyp of the Gastrointestinal Tract

The entity known as “juvenile-like (inflammatory/hyperplastic) mucosal polyps of the gastrointestinal tract in neurofibromatosis type 1 (NF1)” was recently proposed, but is not well known. Here, we describe the characteristics of this entity in a surgically resected case. The hemorrhagic 2 × 1 cm–sized polyp was resected from the ascending colon of a 55-year-old male NF1 patient. The polyp was composed of characteristic multiple mucosal protrusions and submucosal elements that included vasculopathic changes. Histologically, this lesion was similar to an inflammatory fibroid polyp rather than juvenile or hyperplastic polyps. This disease could be a distinct entity, and “inflammatory vasculopathic polyp” would be a suitable name.

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Case report of ascending colon cancer and multiple jejunal GISTs in a patient with neurofibromatosis type 1 (NF1)

BMC Cancer ◽

10.1186/s12885-019-6375-9 ◽

2019 ◽

Vol 19 (1) ◽

Author(s):

Liang Shang ◽

Zhen Fang ◽

Jin Liu ◽

Fengying Du ◽

Haiyan Jing ◽

...

Keyword(s):

Colon Cancer ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Neurofibromatosis Type 1 ◽

Neurofibromatosis Type ◽

Ascending Colon ◽

Malignant Tumours ◽

Whole Exome ◽

Ascending Colon Cancer

Abstract Background NF1(Neurofibromatosis type 1) is an autosomal dominant genetic disorder. Patients with NF1 have an increased risk of developing benign or malignant tumours, such as gastrointestinal stromal tumours (GISTs). However, the coexistence of NF1, GIST and colon cancer is very rare, and few cases have been reported in the literature. Case presentation We admitted a case of a 64-year-old man with type 1 neurofibromatosis, GISTs, and ascending colon cancer. This case was characterized by café-au-lait macules, discrete cutaneous neurofibromas, nodular neurofibromas, multiple jejunal tumours, and ascending colon cancer. Laparoscopic exploration revealed ascending colon cancer and multiple jejunal tumours. Laparoscopic right hemicolectomy and local excision of the jejunal tumours were performed successfully. The pathological results confirmed moderate differentiated adenocarcinoma of the ascending colon with multiple jejunal GISTs (low risk, very low risk). Moreover, the immunohistochemistry results of multiple jejunal GISTs suggest that NF1 is positive. Whole-exome sequencing (WES) of colon cancer revealed mutations in more than 20 genes, including KRAS, PIK3CA, APC, SMAD4, etc. The results of whole-exome sequencing (WES) of jejunal GISTs revealed an NF1 mutation and no KIT or PDGFR gene mutation. Conclusion We report a rare case of simultaneous NF1, GIST and colon adenocarcinoma. For patients with NF1, benign and/or malignant tumours are often combined. Therefore, these patients should undergo regular physical examinations so that early detection and early treatment can be achieved.

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Intra-abdominal plexiform neurofibromatosis including periportal, mesentery, and gastrointestinal tract involvement in neurofibromatosis type 1: case report and review of the literature

Clinical Journal of Gastroenterology ◽

10.1007/s12328-011-0241-x ◽

2011 ◽

Vol 4 (5) ◽

pp. 292-297 ◽

Cited By ~ 4

Author(s):

Takashi Fujisawa ◽

Masafumi Takata ◽

Sachiko Ouchi ◽

Shigemitsu Ueyama ◽

Takahiro Nakajima ◽

...

Keyword(s):

Case Report ◽

Gastrointestinal Tract ◽

Neurofibromatosis Type 1 ◽

Neurofibromatosis Type ◽

Review Of The Literature ◽

Plexiform Neurofibromatosis ◽

Tract Involvement

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Goblet Cell Carcinoid in a Patient with Neurofibromatosis Type 1: A Rare Combination

Case Reports in Gastrointestinal Medicine ◽

10.1155/2012/185730 ◽

2012 ◽

Vol 2012 ◽

pp. 1-3 ◽

Cited By ~ 1

Author(s):

Tine Gregersen ◽

Nanna Holt ◽

Henning Gronbaek ◽

Ida Vogel ◽

Lars J. Jørgensen ◽

...

Keyword(s):

Gastrointestinal Tract ◽

Neuroendocrine Tumors ◽

Goblet Cell ◽

Neurofibromatosis Type 1 ◽

Autosomal Dominant ◽

Neurofibromatosis Type ◽

Goblet Cell Carcinoid ◽

Autosomal Dominant Disorder ◽

Rare Tumors

Neuroendocrine tumors are rare tumors primarily located in the gastrointestinal tract. Goblet cell carcinoid is a rare subgroup of neuroendocrine tumors located in the appendix. Neurofibromatosis type 1 is an autosomal dominant disorder caused by a mutation in theNF1gene. Patients with neurofibromatosis type 1 have an increased incidence of typical neuroendocrine tumors, but it is unknown if this is the case with goblet cell carcinoids. We describe a patient with both neurofibromatosis type 1 and goblet cell carcinoid, that according to literature would occur in 0.00017 per million per year. This may suggest a previously unknown association between neurofibromatosis type 1 and goblet cell carcinoids.

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Manifestaciones gastrointestinales en neurofibromatosis tipo 1. Reporte de un caso

Acta gastroenterológica latinoamericana ◽

10.52787/gkno4993 ◽

2020 ◽

Vol 50 (4) ◽

Author(s):

Daniela Méndez ◽

Martin Oricchio ◽

Yesica Pontet ◽

Martha Otero ◽

Felipe Muñiz ◽

...

Keyword(s):

Neurofibromatosis Type 1 ◽

Neurofibromatosis Type ◽

Inflammatory Polyp ◽

Palpable Mass ◽

Cutaneous Manifestations ◽

Increased Risk ◽

Neurocutaneous Disorder ◽

Digestive Malignancies ◽

Von Recklinghausen

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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