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

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

doi:10.4067/s0034-98872009000900009

Cited by 6 publications

(16 citation statements)

References 20 publications

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“…The GIST localized in the terminal ileum was perforated, covered by the greater omentum with some fibrin and pus. A segmental resection with primary anastomosis was performed (black circle) triad among others [1][2][3][4]; however, multiple sporadic primary GISTs seem to be a less common clinical scenario. The case reported here illustrates some frequent characteristics of sporadic primary GISTs since the patient presented with an acute complication of his tumor.…”

Section: Discussionmentioning

confidence: 99%

Multiple Primary Gastrointestinal Stromal Tumors Presenting in Jejunum and Ileum

et al. 2012

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Section: Discussionmentioning

confidence: 99%

Multiple Primary Gastrointestinal Stromal Tumors Presenting in Jejunum and Ileum

et al. 2012

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“…en 5% de los casos se presentan en el contexto de un síndrome familiar siendo la neurofibromatosis tipo 1 (NF1) el más común 21 , además se describen en la triada de Carney y en el síndrome de Carney-Stratakis 9,10,21,24,25 . La NF1 es una de las alteraciones genéticas más comunes con una frecuencia de 1:2.500 a 1:5.000 nacimientos [24][25][26][27] . Se hereda en un patrón autosómico dominante con penetración variable, la anomalía genética se localiza en el brazo largo del cromosoma 17 (17q11.2), este gen codifica la neurofibromina que es una proteína citoplásmica que controla la proliferación celular inactivando las vías del ras p21 y de la kinasa MAP 26 .…”

Section: Gist Duodenales En Pacientes Con Neurofibromatosis Tipo Iunclassified

“…Las complicaciones gastrointestinales de la NF1 se encuentran extensamente descritas pero la verdadera incidencia y repercusión clínica de los GIST no son conocidas 27 . Se ha estimado que una proporción que varía entre 10% y 60% de todos los pacientes con NF1 desarrollan GIST, aunque sólo 5% o menos presentan sintomatología asociada 24 . Los GIST duodenales son infrecuentes en pacientes con NF1 24 .…”

Section: Gist Duodenales En Pacientes Con Neurofibromatosis Tipo Iunclassified

“…Se ha estimado que una proporción que varía entre 10% y 60% de todos los pacientes con NF1 desarrollan GIST, aunque sólo 5% o menos presentan sintomatología asociada 24 . Los GIST duodenales son infrecuentes en pacientes con NF1 24 . en estos pacientes los GIST se localizan en el intestino delgado, con mayor frecuencia en el íleon [24][25][26][27] , son habitualmente múltiples coexistiendo tumores benignos y malignos 23 .…”

Section: Gist Duodenales En Pacientes Con Neurofibromatosis Tipo Iunclassified

“…Las imágenes de la resonancia magnética (RM) son comparables a las de la CT [17][18][19][20][21][22][23][24][25][26][27][28][29][30] . en RM los GIST duodenales sólidos tienen una señal de intensidad baja en T1 y elevada en T2 7,15,33 .…”

Section: Resonancia Magnéticaunclassified

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Tumores Del Estroma Gastrointestinal (Gist) Del Duodeno: Presentación Clínica, Estudio Diagnóstico Y Tratamiento Actual

Beltrán

Marcelo²

2014

Rev Chil Cir

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Duodenal gastrointestinal stromal tumors (GIST): Clinical presentation, diagnostic studies and current treatment Duodenal gastrointestinal stromal tumors (GIST) constitute the most challenging location for the treatment of this neoplasm. Duodenal GIST are relatively uncommon tumors, their prevalence is very low accounting for 5% to 7% or less of all surgically resected GIST. Most published reports on duodenal GIST are case reports or case series. Consequently, the clinical manifestations, radiologic diagnosis, appropriate surgical treatment, and prognostic factors constitute a subject of current controversy. Most articles concerning duodenal GISTs state that unlike tumors involving other sites of the gastrointestinal tract, the optimal procedure for duodenal GISTs has not been well characterized. However, when carefully reviewing the published literature on the subject, it was found that surgical approaches to duodenal GISTs are fairly standard among different authors. All take into account the location of GIST in the duodenum and its anatomic relationships to decide whether local resection or Whipple operation should be performed. Using this common sense knowledge, defined surgical options for duodenal GISTs according to their localization within the duodenal frame are proposed.

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GIST associated with von recklinghausen disease: Report of two cases and review of literature

Ávila

Leyva

Flores

et al. 2021

Annals of Medicine and Surgery

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Introduction and importance Neurofibromatosis type 1 (NF1), or Von Recklinghausen's disease, is an autosomal dominant condition that affects the central nervous system. Gastrointestinal stromal tumor (GIST) refers to non-epithelial tumors of the gastrointestinal tract lacking smooth muscle structural features and schwann cell immunohistochemical characteristics. The risk of patients with NF1 to develop a GIST is 7%. Case presentation GIST is a soft tissue sarcoma that probably arises from the interstitial Cajal cells of the intestine. GIST associated with NF1 syndrome appears to have a distinct phenotype, occurring in younger patients compared to sporadic GIST. Clinical discussion The clinical presentation can be highly variable, the association of gastrointestinal tumors associated with Von Recklinghausen's disease is up to 7%, postoperative treatment with imatinib is reserved for patients with a high risk of recurrence. Conclusion The treatment of primary GIST is complete surgical resection with free microscopic margins and an intact pseudocapsule.

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

Cited by 6 publications

References 20 publications

Multiple Primary Gastrointestinal Stromal Tumors Presenting in Jejunum and Ileum

Multiple Primary Gastrointestinal Stromal Tumors Presenting in Jejunum and Ileum

Tumores Del Estroma Gastrointestinal (Gist) Del Duodeno: Presentación Clínica, Estudio Diagnóstico Y Tratamiento Actual

GIST associated with von recklinghausen disease: Report of two cases and review of literature

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