Epithelioid gastrointestinal stromal tumor of the stomach with liver metastases in a 12-year-old girl: Aspiration cytology and molecular study

Pediatric and Developmental Pathology

Volumn 5, Issue 4, 2002, Pages 386-394

  Li, Peng ^a   Wei, Jianjun ^a   West, A Brian ^a   Perle, MaryAnn ^a   Greco, M Alba ^a   Yang, Grace C H ^a  

^a NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

c kit mutation; Cytogenetics; Fine needle aspiration; Pediatric gastrointestinal stromal tumor; Ultrafast Papanicolaou stain

Indexed keywords

CD34 ANTIGEN; STEM CELL FACTOR RECEPTOR;

ARTICLE; ASPIRATION CYTOLOGY; CASE REPORT; CYTOGENETICS; EPITHELIOID CELL; EXON; FEMALE; GENE MUTATION; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; KARYOTYPE; LIVER METASTASIS; MOLECULAR BIOLOGY; NEUROSECRETORY CELL; PAPANICOLAOU TEST; PRIORITY JOURNAL; PROTEIN EXPRESSION; SCHOOL CHILD; STOMACH TUMOR; STROMA;

BIOPSY, NEEDLE; CHILD; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; LIVER NEOPLASMS; LUNG NEOPLASMS; MUTATION; POLYMERASE CHAIN REACTION; PROTO-ONCOGENE PROTEINS C-KIT; STOMACH NEOPLASMS; STROMAL CELLS; TUMOR MARKERS, BIOLOGICAL;

EID: 0036657064     PISSN: 10935266     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10024-001-0250-8     Document Type: Article

References (54)

1. Kindblom L-G, Remotti HE, Aldenborg F, Meis-Kindblom JM. Gastrointestinal pacemaker cell tumor (GIPACT): gastrointestinal stromal tumors show phenotypic characteristics of the interstitial cells of Cajal. Am J Pathol 1998; 152:1259-1269.
2. Miettinen M, Sarlomo-Rikala M, Sobin LH, Lasota J. Gastrointestinal stromal tumors and leiomyosarcomas in the colon: a clinicopathologic, immunohistochemical, and molecular genetic study of 44 cases. Am J Surg Pathol 2000;24:1339-1352.
3. Sarlomo-Rikala M, Kovatich AJ, Barusevicius A, Miettinen M. CD117: a sensitive marker for gastrointestinal stromal tumors that is more specific than CD34. Mod Pathol 1998; 11:728-734.
4. Sircar K, Hewlett BR, Huizinga JD, Chorneyko K, Berezin I, Riddell RH. Interstitial cells of Cajal as precursors of gastrointestinal stromal tumors. Am J Surg Pathol 1999; 23:377-389.
5. Young HM. Embryological origin of interstitial cells of Cajal. Microsc Res Tech 1999;47:303-308.
6. Miettinen M, Lasota J. Gastrointestinal stromal tumors - definition, clinical, histological, immunohistochemical, and molecular genetic features and differential diagnosis. Virchows Arch 2001;438:1-12.
7. Strickland L, Letson GD, Muro-Cacho CA. Gastrointestinal stromal tumors. Cancer Control 2001;8:252-261.
8. Walker P, Dvorak AM. Gastrointestinal autonomic nerve (GAN) tumor. Ultrastructural evidence for a newly recognized entity. Arch Pathol Lab Med 1986; 110:309-316.
9. Shek TW, Luk IS, Loong F, Ip P, Ma L. Inflammatory cell-rich gastrointestinal autonomic nerve tumor. An expansion of its histologic spectrum. Am J Surg Pathol 1996; 20:325-331.
10. Donner LR. Gastrointestinal autonomic nerve tumor: a common type of gastrointestinal stromal neoplasm. Ultrastruct Pathol 1997;21:419-424.
11. Erlandson RA, Woodruff JM. Role of electron microscopy in the evaluation of soft tissue neoplasms, with emphasis on spindle cell and pleomorphic tumors. Hum Pathol 1998;29:1372-1381.
12. Suster S. Gastrointestinal stromal tumor. Semin Diagn Pathol 1996;13:297-313.
13. Lauwers GY, Erlandson RA, Casper ES, Brennan MF, Woodruff JM. Gastrointestinal autonomic nerve tumors. A clinicopathological, immunohistochemical, and ultrastructural study of 12 cases. Am J Surg Pathol 1993;17: 887-897.
14. Ojanguren I, Ariza A, Navas-Palacios JJ. Gastrointestinal autonomic nerve tumor: further observations regarding an ultrastructural and immunohistochemical analysis of six cases. Hum Pathol 1996;27:1311-1318.
15. Matsumoto K, Min W, Yamada N, Asano G. Gastrointestinal autonomic nerve tumors: immunohistochemical and ultrastructural studies in cases of gastrointestinal stromal tumor. Pathol Int 1997;47:308-314.
16. Lee JR, Joshi V, Griffin JW Jr, Lasota J, Miettinen M. Gastrointestinal autonomic nerve tumor. Immunohistochemical and molecular identity with gastrointestinal stromal tumor. Am J Surg Pathol 2001;25:979-987.
17. Miettinen M, Sarlomo-Rikala M, Lasota J. Gastrointestinal stromal tumors: recent advances in understanding of their biology. Hum Pathol 1999;30:1213-1220.
18. Wiener Y, Gold R, Zehavy S, Sandbank J, Halevy A. Primary gastrointestinal stromal tumors. Harefuah 2001; 140: 377-380.
19. Terada R, Ito S, Akama F, Kidogawa H, Ichikawa K, Ooe H. Clinical and histopathological features of colonic stromal tumor in a child. J Gastroenterol 2000;35:456-459.
20. Varan A, Doganci T, Taskin M, Uner A, Varan B. Gastrointestinal autonomic nerve tumor: the youngest case reported in the literature. J Pediatr Gastroenterol Nutr 2000; 31:183-184.
21. Bates AW, Feakins RM, Scheimberg I. Congenital gastrointestinal stromal tumour is morphologically indistinguishable from the adult form, but does not express CD117 and carries a favourable prognosis. Histopathology 2000; 37:316-322.
22. Shenoy MU, Singh SJ, Robson K, Stewart RJ. Gastrointestinal stromal tumor: a rare cause of neonatal intestinal obstruction. Med Pediatr Oncol 2000;34:70-71.
23. Wu SS, Buchmiller TL, Close P, Gershman GB, Peng S-K, French SW. Congenital gastrointestinal pacemaker cell tumor. Arch Pathol Lab Med 1999;123:842-845.
24. Kerr JZ, Hicks MJ, Nuchtern JG, et al. Gastrointestinal autonomic nerve tumors in the pediatric population. A report of four cases and a review of the literature. Cancer 1999;85:220-230.
25. Kodet R, Snajdauf J, Smelhaus V. Gastrointestinal autonomic nerve tumor: a case report with electron microscopic and immunohistochemical analysis and review of the literature. Pediatr Pathol 1994;14:1005-1016.
26. Perez-Atayde AR, Shamberger RC, Kozakewich HWP. Neuroectodermal differentiation of the gastrointestinal tumors in the Carney triad. An ultrastructural and immunohistochemical study. Am J Surg Pathol 1993;17:706-714.
27. Tortella BJ, Matthews JB, Antonioli DA, Dvorak AM, Silen W. Gastric autonomic nerve (GAN) tumor and extra-adrenal paraganglioma in Carney's triad. A common origin. Ann Surg 1987;205:221-225.
28. Kitamura Y, Hirota S, Nishida T. A loss-of-function mutation of c-kit results in depletion of mast cells and interstitial cells of Cajal, while its gain-of-function mutation results in their oncogenesis. Mutat Res 2001;477:165-171.
29. Hirota S, Nishida T, Isozaki K, et al. Gain-of-function mutation at the extracellular domain of KIT in gastrointestinal stromal tumours. J Pathol 2001;193:505-510.
30. Lasota J, Wozniak A, Sarlomo-Rikala M, et al. Mutations in exons 9 and 13 of KIT gene are rare events in gastrointestinal stromal tumors. A study of 200 cases. Am J Pathol 2000;157:1091-1095.
31. Taniguchi M, Nishida T, Hirota S, et al. Effect of c-kit mutation on prognosis of gastrointestinal stromal tumors. Cancer Res 1999;59:4297-4300.
32. Lux ML, Rubin BP, Biase TL, et al. KIT extracellular and kinase domain mutations in gastrointestinal stromal tumors. Am J Pathol 2000;156:791-795.
33. Sakurai S, Oguni S, Hironaka M, Fukayama M, Morinaga S, Saito K. Mutations in c-kit gene exons 9 and 13 in gastrointestinal stromal. tumors among Japanese. Jpn J Cancer Res 2001;92:494-498.
34. Cheuk W, Lee KC, Chan JK. c-kit immunocytochemical staining in the cytologic diagnosis of metastatic gastrointestinal stromal tumor. A report of two cases. Acta Cytol 2000;44:679-685.
35. Seidal T, Edvardsson H. Diagnosis of gastrointestinal stromal tumor by fine-needle aspiration biopsy: a cytological and immunocytochemical study. Diagn Cytopathol 2000; 23:397-401.
36. Debol SM, Stanley MW, Mallery JS. Can fine needle aspiration cytology adequately diagnose and predict the behavior of gastrointestinal stromal tumors? Adv Anat Pathol 2001;8:93-97.
37. Li SQ, O'Leary TJ, Buchner SB, et al. Fine needle aspiration of gastrointestinal stromal tumors. Acta Cytol 2001; 45:9-17.
38. Yang GC, Alvarez II. Ultrafast Papanicolaou stain. An alternative preparation for fine needle aspiration cytology. Acta Cytol 1995;39:55-60.
39. Soong R, Iacopetta BJ. A rapid and nonisotopic method for the screening and sequencing of p53 gene mutations in formalin-fixed, paraffin-embedded tumors. Mod Pathol 1997;10:252-258.
40. Schmidt-Sarosi C, Schwartz LB, Lublin J, Kaplan-Grazi D, Sarosi P, Perle MA. Chromosomal analysis of early fetal losses in relation to transvaginal ultrasonographic detection of fetal heart motion after infertility. Fertil Steril 1998;69:274-277.
41. El-Rifai W, Sarlomo-Rikala M, Andersson LC, Miettinen M, Knuutila S. High-resolution deletion mapping of chromosome 14 in stromal tumors of the gastrointestinal tract suggests two distinct tumor suppressor loci. Genes Chromosom Cancer 2000;27:387-391.
42. Kim N-G, Kim JJ, Ahn JY, et al. Putative chromosomal deletions on 9P, 9Q and 22Q occur preferentially in malignant gastrointestinal stromal tumors. Int J Cancer 2000; 85:633-638.
43. O'Leary T, Ernst S, Przygodzki R, Emory T, Sobin L. Loss of heterozygosity at 1p36 predicts poor prognosis in gastrointestinal stromal/smooth muscle tumors. Lab Invest 1999;79:1461-1467.
44. Wang L, Vargas H, French SW. Cellular origin of gastrointestinal stromal tumors. A study of 27 cases. Arch Pathol Lab Med 2000;124:1471-1475.
45. Graadt van Roggen JF, van Velthuysen ML, Hogendoorn PC. The histopathological differential diagnosis of gastrointestinal stromal tumours. J Clin Pathol 2001;54:96-102.
46. Berman J, O'Leary TJ. Gastrointestinal stromal tumor workshop. Hum Pathol 2001;32:578-582.
47. Boggino HE, Fernandez MP, Logrono R. Cytomorphology of gastrointestinal stromal tumor: diagnostic role of aspiration cytology, core biopsy, and immunochemistry. Diagn Cytopathol 2000;23:156-160.
48. Nishida T, Hirota S. Biological and clinical review of stromal tumors in the gastrointestinal tract. Histol Histopathol 2000;15:1293-1301.
49. Ernst SI, Hubbs AE, Przygodzki RM, Emory TS, Sobin LH, O'Leary TJ. KIT mutation portends poor prognosis in gastrointestinal stromal/smooth muscle tumors. Lab Invest 1998;78:1633-1636.
50. Rubin BP, Singer S, Tsao C, et al. KIT activation is a ubiquitous feature of gastrointestinal stromal tumors. Cancer Res 2001;15:61:8118-8121.
51. Longley BJ, Reguera MJ, Ma Y. Classes of c-KIT activating mutations: proposed mechanisms of action and implications for disease classification and therapy. Leuk Res 2001; 25:571-576.
52. Ahmed A, Yee H, Greco MA, Kahn E. Distribution of interstitial cells of Cajal in GIT of fetuses and children. Mod Pathol 2001;14:3P.
53. Lam KY, Law SY, Chu KM, Ma LT. Gastrointestinal autonomic nerve tumor of the esophagus. A clinicopathological, immunohistochemical, and ultrastructural study of a case and review of the literature. Cancer 1996;78:1651-1659.
54. Carney JA. Gastric stromal sarcoma, pulmonary chondroma, and extra-adrenal paraganglioma (Carney Triad): natural history, adrenocortical component, and possible familial occurrence. Mayo Clin Proc 1999;74:543-552.