c-kit mutation in generalized lentigines associated with gastrointestinal stromal tumor

Dermatology

Volumn 208, Issue 3, 2004, Pages 217-220

  Shibusawa, Y ^a   Tamura, A ^a   Mochiki, E ^a   Kamisaka, K ^b   Kimura, H ^b   Ishikawa, O ^a  

^a GUNMA UNIVERSITY   (Japan)

^b Isesaki Municipal Hospital   (Japan)

Author keywords

c kit gene; Gain of function mutation; Gastrointestinal stromal tumors (GISTs); Generalized lentigines

Indexed keywords

DNA; PROTEIN TYROSINE KINASE; STEM CELL FACTOR RECEPTOR;

ADULT; ANAMNESIS; ARTICLE; C KIT GENE; CASE REPORT; CELL DIFFERENTIATION; CELL PROLIFERATION; CLINICAL FEATURE; CODON; DISEASE ASSOCIATION; EXON; FEMALE; GASTROINTESTINAL STROMAL TUMOR; GENE; GENE IDENTIFICATION; GENE MUTATION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOPATHOGENESIS; LENTIGINOSIS; LEUKOCYTE; MELANOCYTE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; SKIN BIOPSY;

CODON; EXONS; FEMALE; GASTROINTESTINAL NEOPLASMS; HUMANS; LEOPARD SYNDROME; MIDDLE AGED; POINT MUTATION; PROTO-ONCOGENE PROTEINS C-KIT; STROMAL CELLS;

EID: 2342582667     PISSN: 10188665     EISSN: None     Source Type: Journal    
DOI: 10.1159/000077302     Document Type: Article

References (26)

1. Gorlin RJ, Anderson RC, Blaw M: Multiple lentigines syndrome. Am J Dis Child 1969;117:652-662.
2. Rhodes AR, Silverman RA, Harrist TJ, Perez-Atayde AR: Mucocutaneous lentigines, cardiomucocutaneous myxomas, and multiple blue nevi: The 'LAMB' syndrome. J Am Acad Dermatol 1984;10:72-82.
3. Atherton DJ, Pitcher DW, Wells RS, MacDonald DM: A syndrome of various cutaneous pigmented lesions, myxoid neurofibromata and atrial myxoma: The NAME syndrome. Br J Dermatol 1980;103:421-429.
4. Carney JA, Gordon H, Carpenter PC, Shenoy BV, Go VL: The complex of myxomas, spotty pigmentation, and endocrine overactivity. Medicine 1985;64:270-283.
5. Uhle P, Norvell SS Jr: Generalized lentiginosis. J Am Acad Dermatol 1988;18:444-447.
6. Besmer P, Murphy JE, George PC, Qiu FH, Bergold PJ, Lederman L, Snyder HW Jr, Brodeur D, Zuckerman EE, Hardy WD: A new acute transforming feline retrovirus and relationship of its oncogene v-kit with the protein kinase gene family. Nature 1986;320:415-421.
7. Zsebo KM, Williams DA, Geissler EN, Broudy VC, Martin FH, Atkins HL, Hsu RY, Birkett NC, Okino KH, Murdock DC, et al: Stem cell factor is encoded at the Sl locus of the mouse and is the ligand for the c-kit tyrosine kinase receptor. Cell 1990;63:213-224.
8. Russell ES: Hereditary anemias of the mouse: A review for genetics. Adv Genet 1979;20:357-459.
9. V mice and their increase by bone marrow transplantation. Blood 1978;52:447-452.
10. Maeda H, Yamagata A, Nishikawa S, Yoshinaga K, Kobayashi S, Nishi K, Nishikawa S: Requirement of c-kit for development of intestinal pacemaker system. Development 1992;116:369-375.
11. Rosai J: Gastrointestinal tract: Stromal tumors; in Rosai R (ed): Ackermann's Surgical Pathology, ed 8. St Louis, Mosby, 1996, pp 645-647.
12. Hirota S, Isozaki K, Moriyama Y, Hashimoto K, Nishida T, Ishiguro S, Kawano K, Hanada M, Kurata A, Takeda M, Muhammad Tunio G, Matsuzawa Y, Kanakura Y, Shinomura Y, Kitamura Y: Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. Science 1998;279:577-580.
13. Hirota S, Nishida T, Isozaki K, Taniguchi M, Nakamura J, Okazaki T, Kitamura Y: Gain-of-function mutation at the extracellular domain of KIT in gastrointestinal stromal tumors. J Pathol 2001;193:505-510.
14. Lasota J, Jasinski M, Sarlomo-Rikala M, Miettinen M: Mutations in exon 11 of c-kit occur preferentially in malignant versus benign gastrointestinal stromal tumors and do not occur in leiomyomas or leiomyosarcomas. Am J Pathol 1999;154:53-60
15. Selmanowitz VJ: Lentiginosis profusa syndrome (multiple lentigines syndrome). Acta Derm Venereol (Stockh) 1971;51:387-393.
16. Nishida T, Hirota S, Taniguchi M, Hashimoto K, Isozaki K, Nakamura H, Kanakura Y, Tanaka T, Takabayashi A, Matsuda H, Kitamura Y: Familial gastrointestinal stromal tumors with germline mutation of the KIT gene. Nat Genet 1998;19:323-324.
17. Maeyama H, Hidaka E, Ota H, Minami S, Kajiyama M, Kuraishi A, Mori H, Matsuda Y, Wada S, Sodeyama H, Nakata S, Kawamura N, Hata S, Watanabe M, Iijima Y, Katsuyama T: Familial gastrointestinal stromal tumor with hyperpigmentation: Association with a germline mutation of the c-kit gene. Gastroenterology 2001;120:210-215.
18. Beghini A, Tibiletti MG, Roversi G, Chiaravalli AM, Serio G, Capella C, Larizza L: Germline mutation in the juxtamembrane domain of the kit gene in a family with gastrointestinal stromal tumors and urticaria pigmentosa. Cancer 2001;92:657-662.
19. Taniguchi M, Nishida T, Hirota S, Isozaki K, Ito T, Nomura T, Matsuda H, Kitamura Y: Effect of c-kit mutation on prognosis of gastrointestinal stromal tumors. Cancer Res 1999;59:4297-4300.
20. Nishikawa S, Kusakabe M, Yoshinaga K, Ogawa M, Hayashi S, Kunisada T, Era T, Sakakura T, Nishikawa S: In utero manipulation of coat color formation by a monoclonal anti-c-kit antibody: Two distinct waves of c-kit dependency during melanocyte development. EMBO J 1991;10:2111-2118.
21. Giebel LB, Spritz RA: Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism. Proc Natl Acad Sci USA 1991;88:8696-8699.
22. Spritz RA, Ho L, Strunk KM: Inhibition of proliferation of human melanocytes by a KIT antisense oligodeoxynucleotide: Implications for human piebaldism and mouse dominant white spotting (W). J Invest Dermatol 1994;103:148-150.
23. Grichnik JM, Crawford J, Jimenez F, Kurtzberg J, Buchanan M, Blackwell S, Clark RE, Hitchcock MG: Human recombinant stem-cell factor induces melanocytic hyperplasia in susceptible patients. J Am Acad Dermatol 1995;33:577-583.
24. Grichnik JM, Burch JA, Burchette J, Shea CR: The SCF/KIT pathway plays a critical role in the control of normal human melanocyte homeostasis. J Invest Dermatol 1998;111:233-238.
25. Longley BJ, Tyrrell L, Lu SZ, Ma YS, Langley K, Ding TG, Duffy T, Jacobs P, Tang LH, Modlin I: Somatic c-kit activating mutation in urticaria pigmentosa and aggressive mastocytosis: Establishment of clonality in a human mast cell neoplasm. Nat Genet 1996;12:312-314.
26. Möhrenschlager M, Engst R, Müller-Weihrich S, et al: Association of urticaria pigmentosa with café-au-lait spots, neurofibromas and neurofibroma-like neoplasms: A mere coincidence? Dermatology 2003;206:297-302.