Diagnostic morphological features of PDGFRA-mutated gastrointestinal stromal tumors: molecular genetic and histologic analysis of 60 cases of gastric gastrointestinal stromal tumors

Annals of Diagnostic Pathology

Volumn 11, Issue 1, 2007, Pages 27-33

  Daum, Ondrej ^a   Grossmann, Petr ^a   Vanecek, Tomas ^a   Sima, Radek ^a   Mukensnabl, Petr ^a   Michal, Michal ^a  

^a CHARLES UNIVERSITY   (Czech Republic)

Author keywords

GIST; KIT; Morphology; PDGFRA; Stromal tumor

Indexed keywords

PLATELET DERIVED GROWTH FACTOR ALPHA RECEPTOR; STEM CELL FACTOR;

ADOLESCENT; ADULT; AGED; ARTICLE; CELL INFILTRATION; CONTROLLED STUDY; EPITHELIOID CELL; FEMALE; GASTROINTESTINAL STROMAL TUMOR; GENE MUTATION; GIANT CELL; HISTOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MAST CELL; MOLECULAR GENETICS; MORPHOLOGY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RHABDOID TUMOR; SCHOOL CHILD; SPINDLE CELL; TUMOR ASSOCIATED LEUKOCYTE; WILD TYPE;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CHILD; DNA, NEOPLASM; FEMALE; GASTROINTESTINAL NEOPLASMS; GASTROINTESTINAL STROMAL TUMORS; GENE EXPRESSION REGULATION, NEOPLASTIC; HUMANS; MALE; MAST CELLS; MIDDLE AGED; MUTATION; PROTO-ONCOGENE PROTEINS C-KIT; RECEPTOR, PLATELET-DERIVED GROWTH FACTOR ALPHA; TUMOR MARKERS, BIOLOGICAL;

EID: 33846243226     PISSN: 10929134     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.anndiagpath.2006.10.002     Document Type: Article

References (20)

1. Golden T., and Stout A.P. Smooth muscle tumours of the gastrointestinal tract and retroperitoneal tissues. Surg Gynecol Obstet 73 (1941) 784-790
2. Mendoza-Marin M., Hoang M.P., and Albores-Saavedra J. Malignant stromal tumor of the gallbladder with interstitial cells of Cajal phenotype. Arch Pathol Lab Med 126 (2002) 481-483
3. Ortiz-Hidalgo C., Bojorge B.L., and Albores-Saavedra J. Stromal tumor of the gallbladder with phenotype of interstitial cells of Cajal. A previously unrecognized neoplasm. Am J Surg Pathol 24 (2000) 1420-1423
4. Daum O., Klecka J., Ferda J., Treska V., Vanecek T., Sima R., et al. Gastrointestinal stromal tumor of the pancreas: case report with documentation of KIT gene mutation. Virchows Arch 446 (2005) 470-472
5. Neto M.R.M., Machuca T.N., Pinho R.V., Yuasa L.D., and Bleggi-Torres L.F. Gastrointestinal stromal tumor: report of two unusual cases. Virchows Arch 444 (2004) 594-596
6. Lasota J., Carlsson J.A., and Miettinen M. Spindle cell tumor of urinary bladder serosa with phenotypic and genotypic features of gastrointestinal stromal tumor. A clinical report with documentation of KIT expression and mutation. Arch Pathol Lab Med 124 (2000) 894-897
7. Ceballos K.M., Francis J.A., and Mazurka J.L. Gastrointestinal stromal tumor presenting as a recurrent vaginal mass. Arch Pathol Lab Med 128 (2004) 1442-1444
8. Sarlomo-Rikala M., Kovatich A.J., Barusevivius A., and Miettinen M. CD117: a sensitive marker for a gastrointestinal stromal tumor that is more specific than CD34. Mod Pathol 11 (1998) 728-734
9. Hirota S., Isozaki K., Moriyama Y., Hashimoto K., Nishida T., Ishiguro S., et al. Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. Science 279 (1998) 577-580
10. Heinrich M.C., Corless C.L., Duensing A., McGreevey L., Chen C.J., Joseph N., et al. PDGFRA activating mutations in gastrointestinal stromal tumors. Science 299 (2003) 708-710
11. Hirota S., Ohashi A., Nishida T., Isozaki K., Kinoshita K., Shinomura Y., et al. Gain-of-function mutations of platelet-derived growth factor receptor α gene in gastrointestinal stromal tumors. Gastroenterology 125 (2003) 660-667
12. Debiec-Rychter M., Wasag B., Stul M., De Wever I., Van Oosterom A., Hagemeijer A., et al. Gastrointestinal stromal tumours (GISTs) negative for KIT (CD117 antigen) immunoreactivity. J Pathol 202 (2004) 430-438
13. Lasota J., Dansonka-Mieszkowska A., Sobin L.H., and Miettinen M. A great majority of GISTs with PDGFRA mutations represent gastric tumors of low or no malignant potential. Lab Invest 84 (2004) 874-883
14. Penzel R., Aulmann S., Moock M., Schwarzbach M., Rieker R.J., and Mechtersheimer G. The location of KIT and PDGFRA gene mutations in gastrointestinal stromal tumours is site and phenotype associated. J Clin Pathol 58 (2005) 634-639
15. Wardelmann E., Hrychyk A., Merkelbach-Bruse S., Pauls K., Goldstein J., Hohenberger P., et al. Association of platelet-derived growth factor receptor α mutations with gastric primary site and epithelioid or mixed cell morphology in gastrointestinal stromal tumors. J Mol Diagn 6 (2004) 197-204
16. Sakurai S., Hasegawa T., Sakuma Y., Takazawa Y., Motegi A., Nakajima T., et al. Myxoid epithelioid gastrointestinal stromal tumor (GIST) with mast cell infiltrations: a subtype of GIST with mutations of platelet-derived growth factor receptor alpha gene. Hum Pathol 35 (2004) 1223-1230
17. Kwon J., Kang H.J., Kim H., Kim S.E.H., and Kim H. Different histopathological features between gastrointestinal stromal tumors with KIT and PDGFRA mutation. Abstract. Lab Invest 86 Suppl 1 (2006) 111A
18. Pauls K., Merkelbach-Bruse S., Thal D., Büttner R., and Wardelmann E. PGFRα- and c-kit mutated gastrointestinal stromal tumours (GISTs) are characterized by distinctive histological and immunohistochemical features. Histopathology 46 (2005) 166-175
19. Miettinen M., Sobin L.H., and Lasota J. Gastrointestinal stromal tumors of the stomach. A clinicopathologic, immunohistochemical, and molecular genetic study of 1765 cases with long-term follow-up. Am J Surg Pathol 29 (2005) 52-68
20. Michal M., Vanecek T., Sima R., Hes O., Mukensnabl P., Matoska J., et al. Mixed germ cell sex cord-stromal tumors of the testis and ovary. Morphological, immunohistochemical and molecular genetic study of seven cases. Virchows Arch 448 (2006) 612-622