Coexistence of conventional renal cell carcinoma with gastrointestinal stromal
tumor
A R T I C L E I N F O
A B S T R A C T
Keywords:
Case Study
Gastrintestinal stromal tumors (GIST)
Papillary renal cell carcinoma
Conventional renal cell carcinoma
Cancer registry
Oncogenes
1. Introduction
Gastrointestinal stromal tumors (GISTs) constitute an important group of mesenchymal
tumors of gastrointestinal tract. Sporadic coexistence of papillary renal cell carcinoma and
gastrointestinal stromal tumor is known. Mutation in proto-oncogenes, related to tyrosine
kinase receptor molecules are involved in both tumors. We here in present a case of
conventional clear cell renal cell carcinoma in a patient diagnosed to have gastrointestinal
stromal tumor on endoscopic biopsy, stomach. It would be interesting to verify our case with
findings of larger cancer registries. The repeated associations of specific tumors often serve as
pointers to novel oncogene defects. Such germ line mutations are rarely found in sporadic
cases such as ours.
Gastrointestinal tumors are subset of mesenchymal tumors
that are different from neoplasm of neurogenic or smooth muscle
origin. Gastrointestinal tumors constitute approximately 3.6% of
all gastric tumors
Approximately 95% of GISTs have gain of
function mutations of the KIT gene and immuno positive for
CD117. The most common mutations (in-frame deletion, point
mutations, duplications, and insertions) are at the juxta-
membrane domain (exon
). Less commonly, mutations occur at
the extracellular domain (exon 9) or at exon 13 and 17. Most of the
remaining 5% of GISTs have mutation of the platelet derived
growth factor alpha (PDGFRA) gene (juxtamembrane exon 12 or
tyrosinase kinase domain at 18 or 14). A very small number of
tumors have no detectable mutation (wild type)
Detecting individual mutations is valuable in predicting the
prognosis of a GIST and determining whether it will respond to
imatinib therapy. Some authors blame imatinib mesylate
(Gleevac), which is trad