Dedifferentiation in gastrointestinal stromal tumor to an anaplastic kit-negative phenotype: A diagnostic pitfall: Morphologic and molecular characterization of 8 cases occurring either de novo or after imatinib therapy

American Journal of Surgical Pathology

Volumn 37, Issue 3, 2013, Pages 385-392

  Antonescu, Cristina R ^a   Romeo, Salvatore ^e   Zhang, Lei ^a   Nafa, Khedoudja ^a   Hornick, Jason L ^c   Nielsen, Gunnlaugur Petur ^d   Mino Kenudson, Mari ^d   Huang, Hsuan Ying ^f   Mosquera, Juan Miguel ^b   Tos, Paolo A Dei ^e   Fletcher, Christopher D M ^c  

^a MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

^b WEILL CORNELL MEDICAL COLLEGE   (United States)

^c BRIGHAM AND WOMEN S HOSPITAL   (United States)

^d MASSACHUSETTS GENERAL HOSPITAL   (United States)

^e Treviso General Hospital   (Italy)

^f CHANG GUNG UNIVERSITY COLLEGE OF MEDICINE   (Taiwan)

Author keywords

dedifferentiation; gastrointestinal stromal tumor; imatinib; KIT

Indexed keywords

ANTINEOPLASTIC AGENT; IMATINIB; PIPERAZINE DERIVATIVE; PYRIMIDINE DERIVATIVE; STEM CELL FACTOR RECEPTOR;

ADULT; AGED; ARTICLE; CELL DEDIFFERENTIATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GASTROINTESTINAL STROMAL TUMOR; GENE DOSAGE; GENETICS; HUMAN; IMMUNOHISTOCHEMISTRY; MALE; METABOLISM; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PHENOTYPE; POLYMERASE CHAIN REACTION; TUMOR SUPPRESSOR GENE;

ADULT; AGED; ANTINEOPLASTIC AGENTS; CELL DEDIFFERENTIATION; DNA MUTATIONAL ANALYSIS; FEMALE; GASTROINTESTINAL STROMAL TUMORS; GENE DOSAGE; GENES, P53; HUMANS; IMMUNOHISTOCHEMISTRY; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; PIPERAZINES; POLYMERASE CHAIN REACTION; PROTO-ONCOGENE PROTEINS C-KIT; PYRIMIDINES; YOUNG ADULT;

EID: 84873987649     PISSN: 01475185     EISSN: 15320979     Source Type: Journal    
DOI: 10.1097/PAS.0b013e31826c1761     Document Type: Article

References (23)

1. Antonescu CR. The GIST paradigm: lessons for other kinase-driven cancers. J Pathol. 2011;223:251-261.
2. Hirota S, Isozaki K, Moriyama Y, et al. Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. Science. 1998;279:577-580.
3. Rubin BP, Singer S, Tsao C, et al. KIT activation is a ubiquitous feature of gastrointestinal stromal tumors. Cancer Res. 2001;61:8118-8121.
4. Heinrich MC, Corless CL, Duensing A, et al. PDGFRA activating mutations in gastrointestinal stromal tumors. Science. 2003;299:708-710.
5. Medeiros F, Corless CL, Duensing A, et al. KIT-negative gastrointestinal stromal tumors: proof of concept and therapeutic implications. Am J Surg Pathol. 2004;28:889-894.
6. Pauwels P, Debiec-Rychter M, Stul M, et al. Changing phenotype of gastrointestinal stromal tumours under imatinib mesylate treatment: a potential diagnostic pitfall. Histopathology. 2005;47:41-47.
7. Agaram NP, Besmer P, Wong GC, et al. Pathologic and molecular heterogeneity in imatinib-stable or imatinib-responsive gastrointestinal stromal tumors. Clin Cancer Res. 2007;13:170-181.
8. Diaz Delgado M, Hernandez Amate A, Pereira Gallardo S, et al. Gastrointestinal stromal tumors: morphological, immunohistochemical and molecular changes associated with kinase inhibitor therapy. Pathol Oncol Res. 2011;17:455-461.
9. Liegl B, Hornick JL, Corless CL, et al. Monoclonal antibody DOG1.1 shows higher sensitivity than KIT in the diagnosis of gastrointestinal stromal tumors, including unusual subtypes. Am J Surg Pathol. 2009;33:437-446.
10. Agaram NP, Wong GC, Guo T, et al. Novel V600E BRAF mutations in imatinib-naive and imatinib-resistant gastrointestinal stromal tumors. Genes Chromosomes Cancer. 2008;47:853-859.
11. Demetri GD, von Mehren M, Antonescu CR, et al. NCCN Task Force report: update on the management of patients with gastrointestinal stromal tumors. J Natl Compr Cancer Netw. 2010;8(suppl 2):S1-S41. quiz S42-S44.
12. Dahlin DC, Beabout JW. Dedifferentiation of low-grade chondrosarcomas. Cancer. 1971;28:461-466.
13. Evans HL. Liposarcoma: a study of 55 cases with a reassessment of its classification. Am J Surg Pathol. 1979;3:507-523.
14. Chen E, O'Connell F, Fletcher CD. Dedifferentiated leiomyosarcoma: clinicopathological analysis of 18 cases. Histopathology. 2011;59:1135-1143.
15. Mosquera JM, Fletcher CD. Expanding the spectrum of malignant progression in solitary fibrous tumors: a study of 8 cases with a discrete anaplastic component-is this dedifferentiated SFT? Am J Surg Pathol. 2009;33:1314-1321.
16. Insabato L, Masone S, Campione S, et al. Coexistence of primary gastric giant cell-rich leiomyosarcoma and gastrointestinal stromal tumor: report of a very rare combination and review of the literature. Int J Surg Pathol. 2012;20:74-78.
17. Dumont AG, Rink L, Godwin AK, et al. A nonrandom association of gastrointestinal stromal tumor (GIST) and desmoid tumor (deep fibromatosis): case series of 28 patients. Ann Oncol. 2012;23: 1335-1340.
18. Miranda C, Nucifora M, Molinari F, et al. KRAS and BRAF mutations predict primary resistance to imatinib in gastrointestinal stromal tumors. Clin Cancer Res. 2012;18:1769-1776.
19. Romeo S, Debiec-Rychter M, Van Glabbeke M, et al. Cell cycle/apoptosis molecule expression correlates with imatinib response in patients with advanced gastrointestinal stromal tumors. Clin Cancer Res. 2009;15:4191-4198.
20. Antonescu CR, Besmer P, Guo T, et al. Acquired resistance to imatinib in gastrointestinal stromal tumor occurs through secondary gene mutation. Clin Cancer Res. 2005;11:4182-4190.
21. Debiec-Rychter M, Cools J, Dumez H, et al. Mechanisms of resistance to imatinib mesylate in gastrointestinal stromal tumors and activity of the PKC412 inhibitor against imatinib-resistant mutants. Gastroenterology. 2005;128:270-279.
22. Mahadevan D, Cooke L, Riley C, et al. A novel tyrosine kinase switch is a mechanism of imatinib resistance in gastrointestinal stromal tumors. Oncogene. 2007;26:3909-3919.
23. Liegl B, Kepten I, Le C, et al. Heterogeneity of kinase inhibitor resistance mechanisms in GIST. J Pathol. 2008;216:64-74.