Neurofibromatosis Type I and Multiple Gastrointestinal Stromal Tumors: A Unique Identity

Joana Espiga de Macedo*

Neurofibromatosis Type I and Multiple Gastrointestinal Stromal Tumors: A Unique Identity.
Von Recklinghausen’s disease is a genetic disorder characterized by the growth of multiple noncancerous tumors of nerves and skin (neurofibromas) and areas of hypo or hyperpigmentation of the skin. It is also known as Neurofibromatosis type I and represents one type of VRD. It is an autosomal dominant disorder with a rate of occurrence of 1 in 3000 in the general population. The cause of NF1 is a mutation in the NF1 gene, located at the chromosome 17q11.2, which encodes the tumor suppressor gene, neurofibromin.

Loss of neurofibromin function results in activity of Ras oncogene and consequently tumor formation. Gastrointestinal stromal tumors  are the most common mesenchymal tumors of the gastrointestinal tract. The prevalence of GISTs in NF1 varies from 5 to 30%. They are more common in the small intestine and only 5% occur in the stomach, and they don´t metastasize immediately. The majority are c-kit and PDGFRA wild-type, which means that are not related to oncogenic mutations.

We report a 75-years single-old man with the diagnosis of VRD – Neurofibromatosis Type I since 2000. He had multiple cutaneous neurofibromas and pigmented macules over the entire body surface. In his past history he was also diagnosed with epilepsy and occasional seizures and benign hypertrophy of the prostate gland. His usual medication was tegretol 400 mg, kepra 1000 mg. No known family history of diagnosis of Von Recklinghausen disease.
This is a unique identity of Gist’s that clinicians have to be aware of. It appears within the Von Recklinghausen disease, as Neurofibromatosis Type I, and are distinct from the usual GISTs, thus require different care approaches. This case report has some interesting particularities which in this case, spares the patient from molecular target therapy and its toxicities.

Cancer Stud Mol Med Open J. 2017; 3(2): 19-20. doi: 10.17140/CSMMOJ-3-117