Hemorragia digestiva aguda en paciente con neurofibromatosis tipo 1 afecto de múltiples GIST y ganglioneuromatosis intestinal

Fuente, Noa de la; Blanco, Manuel Rodríguez; Cerdán, Gemma; Artigas, Vicenç

doi:10.1016/j.ciresp.2018.08.010

Cited by 1 publication

(1 citation statement)

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“…Many studies confirmed the association between the development of GISTs and neurofibromatosis 1 (NF1) [14][15][16][17]. GISTs associated with NF1 seem however to have a distinct phenotype and the absence of KIT/PDGRFα mutations which has, in turn, an implication on further management where they do not respond well to Imatinib treatment [18][19][20].…”

Section: Introductionmentioning

confidence: 96%

A Huge Pelvic-Abdominal Malignant GIST Tumour in a Patient with Neurofibromatosis Type 1: Case Report and Literature Review

Omar

Alsaati

Waris

2020

Case Reports in Oncological Medicine

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Gastrointestinal stromal tumours are rare tumours of the gastrointestinal tract (GIT) accounting for 0.1%–3% of all gastrointestinal tumours. The most common location is the stomach (55%) followed by the small bowel (31.8%), colon (6%), other various locations (5.5%), and the oesophagus (0.7%). They may also occur in extraintestinal locations. The signs and symptoms of GIST depend on the tumour’s location and size. Gastrointestinal bleeding is one of the most common symptoms. Other signs and symptoms include abdominal discomfort, pain or distention; intestinal obstruction, and weight loss. The association between the development of GISTs and neurofibromatosis 1 (NF1) has been established. NF1-associated GISTs tend to have a distinct phenotype, and the absence of KIT/PDGRFα mutations in turn has implications on further management when they do not respond well to imatinib treatment. Here, we present one of the largest GISTs reported in the literature with a total volume of 25.3×20×14 cm+27.9×23×8 cm and an overall weight of 7.3 kg, which developed in a 43-year-old female patient with NF1 and was resected on an emergency basis due to the rapid deterioration and development of abdominal compartment syndrome. Pathology assessment showed a malignant GIST composed of spindle cells with elongated nuclei with necrosis, marked pleomorphism and numerous giant cell. The mitotic count was >15/50 HPF, Ki 67 was 80%, and the lymphovascular invasion was clear. Immunohistochemistry investigations showed that Vimentin, CD117, and DOG1 were positive, while BCL-2 and CD99 were focal positives. Pan-CK, S-100, CD34, Desmin, SMA, and HMB-45 were negatives.

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