TY - JOUR
T1 - Gastrointestinal autonomic nerve tumor
T2 - Immunohistochemical and molecular identity with gastrointestinal stromal tumor
AU - Lee, Jeffrey R.
AU - Joshi, Viren
AU - Griffin, Joseph W.
AU - Lasota, Jerzy
AU - Miettinen, Markku
N1 - Funding Information:
We thank Lotte Steffensen for typing the manuscript and Lund-beck Foundation, the Danish Biotechnological Research and Development Program of the Danish Research Agency, Novo Nordisk Foundation, Director Ib Hendriksen Foundation, and the Swedish Natural Science Research Council for financial support.
PY - 2001
Y1 - 2001
N2 - Gastrointestinal autonomic nerve tumor (GANT) is a gastrointestinal neoplasm that ultrastructurally recapitulates the enteric neural plexus. This study identifies and defines the features of 10 cases of this rare mesenchymal tumor and compares its clinicopathologic and molecular genetic features with the data on gastrointestinal stromal tumor (GIST). The majority of patients in this series presented at an older age (mean 64 years). Tumors arose from the stomach (6), small intestine (2), and retroperitoneum (2). Mean tumor size was 14 cm; however, four neoplasms were <6 cm. Histologically, tumors were spindled or epithelioid; one epithelioid tumor demonstrated a previously undescribed rhabdoid histologic phenotype. All tumors were positive for CD117 (KIT), while eight of 10 were positive for CD34. In contrast, only two were positive for S-100, and all were negative for actin and desmin. Five GANTs demonstrated GIST-specific gain-of-function mutations in the juxtamembrane domain of the c-kit gene (50%). Three of 10 patients died of disease in 22-30 months, one patient died in the postoperative period, and one patient died of complications of CML. The clinicopathologic, histologic, immunohistologic, and molecular features of GANT are similar to GIST, indicating that GANT merely represents a phenotypic variant of GIST.
AB - Gastrointestinal autonomic nerve tumor (GANT) is a gastrointestinal neoplasm that ultrastructurally recapitulates the enteric neural plexus. This study identifies and defines the features of 10 cases of this rare mesenchymal tumor and compares its clinicopathologic and molecular genetic features with the data on gastrointestinal stromal tumor (GIST). The majority of patients in this series presented at an older age (mean 64 years). Tumors arose from the stomach (6), small intestine (2), and retroperitoneum (2). Mean tumor size was 14 cm; however, four neoplasms were <6 cm. Histologically, tumors were spindled or epithelioid; one epithelioid tumor demonstrated a previously undescribed rhabdoid histologic phenotype. All tumors were positive for CD117 (KIT), while eight of 10 were positive for CD34. In contrast, only two were positive for S-100, and all were negative for actin and desmin. Five GANTs demonstrated GIST-specific gain-of-function mutations in the juxtamembrane domain of the c-kit gene (50%). Three of 10 patients died of disease in 22-30 months, one patient died in the postoperative period, and one patient died of complications of CML. The clinicopathologic, histologic, immunohistologic, and molecular features of GANT are similar to GIST, indicating that GANT merely represents a phenotypic variant of GIST.
KW - CD117
KW - CD34
KW - Gastrointestinal autonomic nerve tumor (GANT)
KW - Gastrointestinal stromal tumor (GIST)
KW - KIT
KW - Ultrastructure
UR - http://www.scopus.com/inward/record.url?scp=0034933716&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0034933716&partnerID=8YFLogxK
U2 - 10.1097/00000478-200108000-00001
DO - 10.1097/00000478-200108000-00001
M3 - Article
C2 - 11474281
AN - SCOPUS:0034933716
SN - 0147-5185
VL - 25
SP - 979
EP - 987
JO - American Journal of Surgical Pathology
JF - American Journal of Surgical Pathology
IS - 8
ER -