Tumor del estroma gastrointestinal (GIST) en una paciente con neurofibromatosis tipo 1

Marcelo A Beltrán,Christian S Wilson,Carlos Barría,Karina S Cruces,Mario A Contreras

doi:10.4067/s0034-98872009000900009

Marcelo A Beltrán, Christian S Wilson + Show 3 more

Open Access

https://doi.org/10.4067/s0034-98872009000900009

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Abstract

Neurofibromatosis Type 1 (NF1) is an autosomic dominant condition affecting the central nervous system and presenting a disposition towards development of gastrointestinal stromal tumors (GIST). We report a 38 year-old female patient with neurofibromatosis type 1 that required emergency surgery due to a perforated GIST originating in the fourth duodenal portion. The GIST, and the fourth duodenal portion, were excised and a primary duodenum-jejunal anastomosis was performed. The pathological study showed a partially necrotic solid-cystic tumor with 1 to 2 mitoses per 50-high-power fields. The cells stained positively to CD 117, CD34 and Desmin, and were negative to S-100, Vimentin, and Smooth Muscle a-Actin. The patient is currently asymptomatic and under follow-up during the last 11 months after surgery.

Highlights

Neurofibromatosis Type 1 (NF1) is an autosomic dominant condition affecting the central nervous systema and presenting a disposition towards development of gastrointestinal stromal tumors (GIST)
Mujer de 38 años con historia de NF1 que se manifestó en la infancia con abundantes efélides en todo el cuerpo, región axilar e inguinal y neurofibromas discretos
Estas características no son frecuentes en GIST que se desarrollan incidentalmente en otros pacientes, los que habitualmente son únicos y predominantemente gástricos[8,13,14,15]

Summary

Introduction

Neurofibromatosis Type 1 (NF1) is an autosomic dominant condition affecting the central nervous systema and presenting a disposition towards development of gastrointestinal stromal tumors (GIST). Otros tumores que pueden producirse en pacientes con NF1 son los gliomas de la vía óptica, astrocitomas, feocromocitomas, leucemia mieloide juvenil crónica y los tumores del estroma gastrointestinal (GIST)[1,3,4]. En pacientes con NF1, a diferencia de los GIST en pacientes sin NF1, se desarrollan principalmente en el intestino delgado, son múltiples y pueden asociarse a otros tumores digestivos[3,4].

Results

Conclusion