Neurofibromatosis with gastrointestinal stromal tumors: insights into the association.

Abstract:

:The frequent association of stromal tumors with neurofobromatosis raises high suspicion of a possible correlation between the two entities. The aim of this study was to analyze clinicopathologic features of patients with concomitant neurofibromatosis and gastrointestinal stromal tumors and to discuss the molecular basis for their possible pathogenesis. Detailed information about clinical presentation, histology, immunostains, polymerase chain reaction amplification, and sequencing in three of our own cases was obtained. Stromal tumors presented with abdominal pain in one case and hemorrhage in another. One patient underwent surgery for malignant transformation of neurofibroma and stromal tumors were found incidentally. Stromal tumors were consistently positive for CD117, while the malignant peripheral sheath tumor was not. Mutation in the KIT juxtamembrane domain was found in one case. In this respect, some stromal tumors lack demonstrable KIT mutations but KIT remains activated. We reasoned that other mechanisms, like the Ras pathway involved in neurofibromatosis type 1, might play a role in KIT activation.

journal_name

Dig Dis Sci

authors

Cheng SP,Huang MJ,Yang TL,Tzen CY,Liu CL,Liu TP,Hsiao SC

doi

10.1023/b:ddas.0000037806.14471.a2

subject

Has Abstract

pub_date

2004-08-01 00:00:00

pages

1165-9

issue

7-8

eissn

0163-2116

issn

1573-2568

journal_volume

49

pub_type

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