Gastrointestinal involvement in von Recklinghausen's neurofibromatosis

Hochberg, Fred H.; Dasilva, Amauri Batista; Galdabini, James J.; Richardson, E. P.

doi:10.1212/wnl.24.12.1144

Cited by 189 publications

(72 citation statements)

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“…Las tres principales manifestaciones gastrointestinales son: neurofibromas gastrointestinales, tumores estromales gastrointestinales (GIST) y tumores neuroendocrinos periampulares, algunas veces asociados con feocromocitoma (11). De los individuos con neurofibromas gastrointestinales, el 83-85% tiene un neurofibroma aislado, mientras que el 15-17% tiene enfermedad de von Recklinghausen (12,13). La mayoría de los tumores surge del plexo mientérico (Auerbach), presentándose como lesiones subserosas que se manifiestan como un cuadro de obstrucción intestinal secundario a una compresión extrínseca o por un vólvulo.…”

Section: Discussionunclassified

Neurofibromatosis tipo 1 y sangrado de intestino delgado. Reporte de caso

Gómez-Zuleta

Lúquez-Mindiola

2017

Rev. Fac. Med.

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REPORTE DE CASO | Resumen |La neurofibromatosis tipo 1, o enfermedad de von Recklinghausen, es un desorden neurocutáneo hereditario con compromiso gastrointestinal en el 5-25% de los pacientes, siendo sintomático solo el 5%; se presenta posterior a las manifestaciones cutáneas y afecta en su mayoría el yeyuno. Los síntomas de esta enfermedad son dolor abdominal, obstrucción intestinal, perforación, diarrea, masa palpable y sangrado gastrointestinal alto o bajo.A continuación se reporta el caso de una mujer con sangrado gastrointestinal manifiesto secundario a neurofibromas plexiformes en yeyuno y se realiza una breve revisión de la literatura sobre compromiso gastrointestinal. | Abstract | Neurofibromatosis type 1, also known as von Recklinghausen disease, is an inherited neurocutaneous disorder with gastrointestinal involvement in 5-25% of patients, with only 5% being symptomatic; it develops following cutaneous manifestations and mostly affects the jejunum. The symptoms include abdominal pain, intestinal obstruction, perforation, diarrhea, palpable mass and high or low gastrointestinal bleeding.The following report presents the case of a woman with manifest gastrointestinal bleeding secondary to plexiform neurofibromas in the jejunum, as well as a brief review of the literature on gastrointestinal involvement. Keywords IntroducciónLa neurofibromatosis tipo 1, también llamada enfermedad de von Recklinghausen, es un desorden hereditario autosómico dominante en el cual se desarrollan tumores benignos y malignos en el sistema nervioso central y periférico que afectan varias partes del cuerpo. Esta enfermedad la describe por primera vez en 1882 el patólogo alemán Frederich von Recklinghausen (1) y en la actualidad su prevalencia es cercana a 1 por cada 3 000 habitantes, con mayor presencia en niños (2). En la etiopatogenia de esta enfermedad está involucrada la mutación del gen NF-1, un gen supresor tumoral que se localiza en el cromosoma 17q11.2 y codifica la neurofibromina (3).Los criterios diagnósticos de la neurofibromatosis tipo 1 se publican en 1988 en la última conferencia de consenso del Instituto Nacional de Salud de los Estados Unidos (4); sin embargo, en la actualidad hay propuestas de modificarlos dado el avance en el entendimiento de la enfermedad, la disponibilidad de análisis moleculares precisos y nuevos signos clínicos (5).La neurofibromatosis tipo 1 se caracteriza por manchas color café con leche, efélides axilares o inguinales, neurofibromas plexiformes, nódulos de Lisch (hamartomas del iris), lesiones óseas (displasia del ala del esfenoides, displasia de huesos largos y escoliosis) y glioma óptico (1).La frecuencia de manifestaciones intraabdominales varía entre el 5% y el 25% de los pacientes y solo el 5% son sintomáticos, presentándose por lo general tardío en la enfermedad y posterior a las manifestaciones cutáneas (6). Los síntomas dependen del sitio de compromiso gastrointestinal, y son, en su mayoría, dolor abdominal, obstrucción intestinal, perforación, diarrea, masa palpable y sangrado ...

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Section: Discussionunclassified

Neurofibromatosis tipo 1 y sangrado de intestino delgado. Reporte de caso

Gómez-Zuleta

Lúquez-Mindiola

2017

Rev. Fac. Med.

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“…There are different growth patterns for neurofibromas. The one associated with neurofibromatosis type 1 is the plexiform growth pattern [6,7]. Neurofibromas are mostly found in the stomach or small intestine, with colonic involvement very rare [1].…”

Section: Discussionmentioning

confidence: 99%

Rectal Mucosal Schwann-Cell Hamartoma: A Case Report and Literature Review

Syed¹,

Mahmood²,

Fazili³

2017

JGPLD

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Background: Mucosal Schwann cell hamartoma is a newly recognized disease entity that describes lesions which share some features but are distinct from schwannomas and neurofibromas. This mesenchymal lesion, consisting of a proliferation of Schwann cells in the lamina propria and a strong positivity for the S-100 protein, should be differentiated from other similar lesions because it exists solely in the intestines as a polypoid lesion. Here, we report on a case of Schwann cell hamartoma diagnosed on pathology of rectal polyp removed during colonoscopy

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“…26,[31][32][33] The association between GISTs and type 1 neurofibromatosis has been well established, however, the frequency with which GISTs occur in this setting is not entirely clear. [22][23][24][28][29][30]51,[56][57][58] In one autopsy study of greater than 27,000 patients, 3/12 (25%) patients with type 1 neurofibromatosis had multiple GISTs, whereas clinical studies indicate that GISTs are identified in 5-25% of patients with type 1 neurofibromatosis. 25,27,59 The GISTs in these patients have a predilection for the small intestine; tumors originating in the stomach and colon are less common.…”

Section: Discussionmentioning

confidence: 99%

“…14,15,20,21 An association between the development of multiple GISTs and type 1 neurofibromatosis has also been established, however, the molecular abnormalities of GISTs arising in this setting have not been elucidated and studies assessing their molecular features are limited. [22][23][24][25][26][27][28][29][30][31][32] Therefore, the purpose of this study was to evaluate a series of multiple GISTs in patients with type 1 neurofibromatosis, in an effort to identify any distinctive morphologic features of these tumors and molecular abnormalities in the KIT and PDGFRA genes.…”

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confidence: 99%

Multiple gastrointestinal stromal tumors in type I neurofibromatosis: a pathologic and molecular study

et al. 2005

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Multiple gastrointestinal stromal tumors typically occur in familial form associated with KIT receptor tyrosine kinase or platelet-derived growth factor receptor-alpha (PDGFRA) germline mutations, but may also develop in the setting of type 1 neurofibromatosis. The molecular abnormalities of gastrointestinal stromal tumors arising in neurofibromatosis have not been extensively studied. We identified three patients with type 1 neurȯ -fibromatosis and multiple small intestinal stromal tumors. Immunostains for CD117, CD34, desmin, actins, S-100 protein, and keratins were performed on all of the tumors. DNA was extracted from representative paraffin blocks from separate tumor nodules in each case and subjected to a nested polymerase chain reaction, using primers for KIT exons 9, 11, 13, and 17 and PDGFRA exons 12 and 18, followed by direct sequencing. The mean patient age was 56 years (range: 37-86 years, male/female ratio: 2/1). One patient had three tumors, one had five, and one had greater than 10 tumor nodules, all of which demonstrated histologic features characteristic of gastrointestinal stromal tumors and stained strongly for CD117 and CD34. One patient died of disease at 35 months, one was disease free at 12 months and one was lost to follow-up. DNA extracts from 10 gastrointestinal stromal tumors (three from each of two patients and four from one patient) were subjected to polymerase chain reactions and assessed for mutations. All of the tumors were wild type for KIT exons 9, 13, and 17 and PDGFRA exons 12 and 18. Three tumors from one patient had identical point mutations in KIT exon 11, whereas the other tumors were wild type at this locus. We conclude that, although most patients with type 1 neurofibromatosis and gastrointestinal stromal tumors do not have KIT or PDGFRA mutations, KIT germline mutations might be implicated in the pathogenesis of gastrointestinal stromal tumors in some patients.

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Gastrointestinal involvement in von Recklinghausen's neurofibromatosis

Cited by 189 publications

References 0 publications

Neurofibromatosis tipo 1 y sangrado de intestino delgado. Reporte de caso

Neurofibromatosis tipo 1 y sangrado de intestino delgado. Reporte de caso

Rectal Mucosal Schwann-Cell Hamartoma: A Case Report and Literature Review

Multiple gastrointestinal stromal tumors in type I neurofibromatosis: a pathologic and molecular study

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