Gastrointestinal stromal tumors in the setting of multiple tumor syndromes

Current Opinion in Oncology

Volumn 26, Issue 4, 2014, Pages 408-414

  Burgoyne, Adam M ^a   Somaiah, Neeta ^b   Sicklick, Jason K ^c  

^a UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

^b UNIVERSITY OF TEXAS MD ANDERSON CANCER CENTER   (United States)

^c UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

Author keywords

Carney's triad; Carney Stratakis syndrome; Gastrointestinal stromal tumor; Hereditary; Neurofibromatosis

Indexed keywords

PLATELET DERIVED GROWTH FACTOR ALPHA RECEPTOR;

CANCER PATIENT; CANCER SCREENING; CARNEY COMPLEX; CARNEY STRATAKIS SYNDROME; COMPLEX II DEFICIENCY; DISEASE ASSOCIATION; EARLY DIAGNOSIS; FAMILIAL CANCER; GASTROINTESTINAL STROMAL TUMOR; GERMLINE MUTATION; HEMATOLOGIC MALIGNANCY; HIGH RISK PATIENT; HUMAN; MULTIPLE CANCER; NEUROFIBROMATOSIS; ONCOGENE C KIT; PATHOGENESIS; PATIENT CARE; PRIORITY JOURNAL; REVIEW; SECOND CANCER; CLASSIFICATION; FEMALE; GASTROINTESTINAL TUMOR; GENETICS; MALE; MUTATION; PATHOLOGY; SYNDROME;

FEMALE; GASTROINTESTINAL NEOPLASMS; GASTROINTESTINAL STROMAL TUMORS; HUMANS; MALE; MUTATION; SYNDROME;

EID: 84902266805     PISSN: 10408746     EISSN: 1531703X     Source Type: Journal    
DOI: 10.1097/CCO.0000000000000089     Document Type: Review

References (75)

1. Agaimy A, Hartmann A. Hereditary and nonhereditary syndromic gastointestinal stromal tumours. Pathologe 2010; 31:430-437.
2. Neuhann TM, Mansmann V, Merkelbach-Bruse S, et al. A novel germline KIT mutation (p.L576P) in a family presenting with juvenile onset of multiple gastrointestinal stromal tumors, skin hyperpigmentations, and esophageal stenosis. Am J Surg Pathol 2013; 37:898-905.
3. Kuroda N, Tanida N, Hirota S, et al. Familial gastrointestinal stromal tumor with germ line mutation of the juxtamembrane domain of the KIT gene observed in relatively young women. Ann Diagn Pathol 2011; 15:358-361.
4. Ponti G, Luppi G, Martorana D, et al. Gastrointestinal stromal tumor and other primary metachronous or synchronous neoplasms as a suspicion criterion for syndromic setting. Oncol Rep 2010; 23:437-444.
5. Stratakis CA, Carney JA. The triad of paragangliomas, gastric stromal tumours and pulmonary chondromas (Carney triad), and the dyad of paragangliomas and gastric stromal sarcomas (Carney-Stratakis syndrome): molecular genetics and clinical implications. J Intern Med 2009; 266:43-52.
6. Pandurengan RK, Dumont AG, Araujo DM, et al. Survival of patients with multiple primary malignancies: A study of 783 patients with gastrointestinal stromal tumor. Ann Oncol 2010; 21:2107-2111.
7. Agaimy A, Wunsch PH, Sobin LH, et al. Occurrence of other malignancies in patients with gastrointestinal stromal tumors. Semin Diagn Pathol 2006; 23:120-129.
8. Miettinen M, Kraszewska E, Sobin LH, Lasota J. A nonrandom association between gastrointestinal stromal tumors and myeloid leukemia. Cancer 2008; 112:645-649.
9. Rheingold S, Neugut A, Meadows A. Secondary cancers: incidence, risk factors, and management. In: Bast RC Jr, Kufe D, Pollock R, editors. Holland- Frei cancer medicine. 5th ed. Hamilton, Ontario, British Columbia: Decker; 2000. Chapter 156.
10. Kosary C, Lag R, Miller B. SEER Cancer statistics review 1973-1992: tables and graphs, N. National Cancer Institute, Editor 1995: Bethesda, MD.
11. Liu YJ, Yang Z, Hao LS, et al. Synchronous incidental gastrointestinal stromal and epithelial malignant tumors. World J Gastroenterol 2009; 15:2027-2031.
12. Chan CH, Cools-Lartigue J, Marcus VA, et al. The impact of incidental gastrointestinal stromal tumours on patients undergoing resection of upper gastrointestinal neoplasms. Can J Surg 2012; 55:366-370.
13. AbdullGaffar B. Gastrointestinal stromal tumors and extra- gastrointestinal tract neoplasms. South Med J 2010; 103:1004-1008.
14. Kakkar A, Gupta RK, Dash NR, et al. Lymphoepithelioma-like carcinoma of the stomach with incidental gastrointestinal stromal tumor (GIST)-A rare synchrony of two tumors. J Gastrointest Cancer 2014. [Epub ahead of print]
15. 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.
16. Pitini V, Arrigo C, Sauta MG, Altavilla G.Myelodysplastic syndrome appearing during imatinib mesylate therapy in a patient with GIST. Leuk Res 2009; 33:e143-e144.
17. Del Biondo E, De Raeva H, Huysmans G, et al. Concomitant JAK2 V617F positive essential thrombocytemia and BCR-ABL1 positive chronic myeloid leukaemia masked by imatinib therapy for a gastrointestinal stromal tumour. Belgian J Hematol 2012; 3:105-107.
18. Schoeler D, Klühs C, Pink D, et al. Polycythemia vera in GIST patients. J Clin Oncol 2010; 28:. 2010 (suppl; abstr e20520).
19. Campbell PJ, Green AR. The myeloproliferative disorders. N Engl J Med 2006; 355:2452-2466.
20. Pikman Y, Lee BH, Mercher T, et al. MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. PLoS Med 2006; 3:e270.
21. Rubin BP, Heinrich MC, Corless CL. Gastrointestinal stromal tumour. Lancet 2007; 369:1731-1741.
22. Corless CL, Barnett CM, Heinrich MC. Gastrointestinal stromal tumours: origin and molecular oncology. Nat Rev Cancer 2011; 11:865-878.
23. Liegl-Atzwanger B, Fletcher JA, Fletcher CD. Gastrointestinal stromal tumors. Virchows Arch 2010; 456:111-127.
24. 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.
25. Mehta J, Wang H, Iqbal SU, Mesa R. Epidemiology of myeloproliferative neoplasms in the United States. Leuk Lymphoma 2014; 55:595-600.
26. Landgren O, Goldin LR, Kristinsson SY, et al. Increased risks of polycythemia vera, essential thrombocythemia, and myelofibrosis among 24,577 firstdegree relatives of 11,039 patients with myeloproliferative neoplasms in Sweden. Blood 2008; 112:2199-2204.
27. Hemminki K, Sundquist J, Bermejo JL. Associated cancers in parents and offspring of polycythaemia vera and myelofibrosis patients. Br J Haematol 2009; 147:526-530.
28. Cario H, Goerttler PS, Steimle C, et al. The JAK2V617F mutation is acquired secondary to the predisposing alteration in familial polycythaemia vera. Br J Haematol 2005; 130:800-801.
29. Bellanne-Chantelot C, Chaumarel I, Labopin M, et al. Genetic and clinical implications of the Val617Phe JAK2 mutation in 72 families with myeloproliferative disorders. Blood 2006; 108:346-352.
30. Rumi E, Passamonti F, Pietra D, et al. JAK2 (V617F) as an acquired somatic mutation and a secondary genetic event associated with disease progression in familial myeloproliferative disorders. Cancer 2006; 107:2206-2211.
31. Pardanani A, Lasho T, McClure R, et al. Discordant distribution of JAK2V617F mutation in siblings with familial myeloproliferative disorders. Blood 2006; 107:4572-4573.
32. Kralovics R, Stockton DW, Prchal JT. Clonal hematopoiesis in familial polycythemia vera suggests the involvement of multiple mutational events in the early pathogenesis of the disease. Blood 2003; 102:3793-3796.
33. Carney JA, Sheps SG, Go VL, Gordon H. The triad of gastric leiomyosarcoma, functioning extra-Adrenal paraganglioma and pulmonary chondroma. N Engl J Med 1977; 296:1517-1518.
34. Carney JA. Carney triad. Front Horm Res 2013; 41:92-110.
35. Carney JA, Stratakis CA, Young WF Jr. Adrenal cortical adenoma: the fourth component of the Carney triad and an association with subclinical Cushing syndrome. Am J Surg Pathol 2013; 37:1140-1149.
36. Belinsky MG, Rink L, Flieder DB, et al. Overexpression of insulin-like growth factor 1 receptor and frequent mutational inactivation of SDHA in wild-type SDHB-negative gastrointestinal stromal tumors. Genes Chromosomes Cancer 2013; 52:214-224.
37. Tarn C, Rink L, Merkel E, et al. Insulin-like growth factor 1 receptor is a potential therapeutic target for gastrointestinal stromal tumors. Proc Natl Acad Sci U S A 2008; 105:8387-8392.
38. Marshall JB, Diaz-Arias AA, Bochna GS, Vogele KA. Achalasia due to diffuse esophageal leiomyomatosis and inherited as an autosomal dominant disorder. Report of a family study. Gastroenterology 1990; 98 (5 Pt 1):1358-1365.
39. Nishida T, Hirota S, Taniguchi M, et al. Familial gastrointestinal stromal tumours with germline mutation of the KIT gene. Nat Genet 1998; 19:323-324.
40. Campbell T, Felsten L, Moore J. Disappearance of lentigines in a patient receiving imatinib treatment for familial gastrointestinal stromal tumor syndrome. Arch Dermatol 2009; 145:1313-1316.
41. Postow MA, Robson ME. Inherited gastrointestinal stromal tumor syndromes: mutations, clinical features, and therapeutic implications. Clin Sarcoma Res 2012; 2:16.
42. de Raedt T, Cools J, Debiec-Rychter M, et al. Intestinal neurofibromatosis is a subtype of familial GIST and results from a dominant activating mutation in PDGFRA. Gastroenterology 2006; 131:1907-1912.
43. Pasini B, Matyakhina L, Bei T, et al. Multiple gastrointestinal stromal and other tumors caused by platelet-derived growth factor receptor alpha gene mutations: A case associated with a germline V561D defect. J Clin Endocrinol Metab 2007; 92:3728-3732.
44. Chompret A, Kannengiesser C, Barrois M, et al. PDGFRA germline mutation in a family with multiple cases of gastrointestinal stromal tumor. Gastroenterology 2004; 126:318-321.
45. Boguszewski CL, Fighera TM, Bornschein A, et al. Genetic studies in a coexistence of acromegaly, pheochromocytoma, gastrointestinal stromal tumor (GIST) and thyroid follicular adenoma. Arq Bras Endocrinol Metabol 2012; 56:507-512.
46. Agaimy A, Vassos N, Croner RS. Gastrointestinal manifestations of neurofibromatosis type 1 (Recklinghausens disease): clinicopathological spectrum with pathogenetic considerations. Int J Clin Exp Pathol 2012; 5:852-862.
47. Agaimy A, Schaefer IM, Kotzina L, et al. Juvenile-like (inflammatory/hyperplastic) mucosal polyps of the gastrointestinal tract in neurofibromatosis type 1. Histopathology 2014; 64:777-786.
48. Afsar CU, Kara IO, Kozat BK, et al. Neurofibromatosis type 1, gastrointestinal stromal tumor, leiomyosarcoma and osteosarcoma: four cases of rare tumors and a review of the literature. Crit Rev Oncol Hematol 2013; 86:191-199.
49. Tavares AB, Viveiros FA, Cidade CN, Maciel J. Gastric GIST with synchronous neuroendocrine tumour of the pancreas in a patient without neurofibromatosis type 1. BMJ Case Rep 2012; 2012.
50. Cavallaro G, Basile U, Polistena A, et al. Surgical management of abdominal manifestations of type 1 neurofibromatosis: experience of a single center. Am Surg 2010; 76:389-396.
51. Haugvik SP, Rsok BI, Edwin B, et al. Concomitant nonfunctional pancreatic neuroendocrine tumor and gastric GIST in a patient without neurofibromatosis type 1. J Gastrointest Cancer 2011. [Epub ahead of print]
52. Zoller ME, Rembeck B, Odén A, et al. Malignant and benign tumors in patients with neurofibromatosis type 1 in a defined Swedish population. Cancer 1997; 79:2125-2131.
53. Miettinen M, Fetsch JF, Sobin LH, Lasota J. Gastrointestinal stromal tumors in patients with neurofibromatosis 1: A clinicopathologic and molecular genetic study of 45 cases. Am J Surg Pathol 2006; 30:90-96.
54. Ferner RE. Neurofibromatosis 1 and neurofibromatosis 2: A twenty first century perspective. Lancet Neurol 2007; 6:340-351.
55. Maertens O, Prenen H, Debiec-Rychter M, et al. Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patients. Hum Mol Genet 2006; 15:1015-1023.
56. Takazawa Y, Sakurai S, Sakuma Y, et al. Gastrointestinal stromal tumors of neurofibromatosis type I (von Recklinghausens disease). Am J Surg Pathol 2005; 29:755-763.
57. Saha SB, Parmar RA. Mandal, small bowel obstruction in a neurofibromatosis patient-A rare presentation of gastro-intestinal stromal tumors (GISTs): case report and literature review. Indian J Surg 2013; 75 (Suppl 1):415-417.
58. Swain SK, Smile R, Arul T, David D. Unusual presentation of gastrointestinal stromal tumor of stomach in neurofibromatosis type 1: A case report. Indian J Surg 2013; 75 (Suppl 1):398-400.
59. Sawalhi S, Al-Harbi K, Raghib Z, et al. Behavior of advanced gastrointestinal stromal tumor in a patient with von-Recklinghausen disease: Case report. World J Clin Oncol 2013; 4:70-74.
60. Kitagawa M, Koh T, Nakagawa N, et al. Gastrointestinal stromal tumor in a patient with neurofibromatosis: Abscess formation in the tumor leading to bacteremia and seizure. Case Rep Gastroenterol 2010; 4:435-442.
61. Gottfried ON, Viskochil DH, Couldwell WT. Neurofibromatosis type 1 and tumorigenesis: molecular mechanisms and therapeutic implications. Neurosurg Focus 2010; 28:E8.
62. Gill AJ, Chou A, Vilain R, et al. Immunohistochemistry for SDHB divides gastrointestinal stromal tumors (GISTs) into 2 distinct types. Am J Surg Pathol 2010; 34:636-644.
63. Wang JH, Lasota J, Miettinen M. Succinate dehydrogenase subunit B (SDHB) is expressed in neurofibromatosis 1-Associated gastrointestinal stromal tumors (GISTs): implications for the SDHB expression based classification of GISTs. J Cancer 2011; 2:90-93.
64. Kinoshita K, Hirota S, Isozaki K, et al. Absence of c-kit gene mutations in gastrointestinal stromal tumours from neurofibromatosis type 1 patients. J Pathol 2004; 202:80-85.
65. Lee JL, Kim JY, Ryu MH, et al. Response to imatinib in KIT- And PDGFRA-wild type gastrointestinal stromal associated with neurofibromatosis type 1. Dig Dis Sci 2006; 51:1043-1046.
66. Mussi C, Schildhaus HU, Gronchi A, et al. Therapeutic consequences from molecular biology for gastrointestinal stromal tumor patients affected by neurofibromatosis type 1. Clin Cancer Res 2008; 14:4550-4555.
67. Carney JA, Stratakis CA. Familial paraganglioma and gastric stromal sarcoma: A new syndrome distinct from the Carney triad. Am J Med Genet 2002; 108:132-139.
68. McWhinney SR, Pasini B, Stratakis CA, et al. Familial gastrointestinal stromal tumors and germ-line mutations. N Engl J Med 2007; 357:1054-1056.
69. Pasini B, McWhinney SR, Bei T, et al. Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD. Eur J Hum Genet 2008; 16:79-88.
70. Miettinen M, Wang ZF, Sarlomo-Rikala M, et al. Succinate dehydrogenasedeficient GISTs: A clinicopathologic, immunohistochemical, and molecular genetic study of 66 gastric GISTs with predilection to young age. Am J Surg Pathol 2011; 35:1712-1721.
71. Gaal J, Stratakis CA, Carney JA, et al. SDHB immunohistochemistry: A useful tool in the diagnosis of Carney-Stratakis and Carney triad gastrointestinal stromal tumors. Mod Pathol 2011; 24:147-151.
72. Dwight T, Benn DE, Clarkson A, et al. Loss of SDHA expression identifies SDHA mutations in succinate dehydrogenase-deficient gastrointestinal stromal tumors. Am J Surg Pathol 2013; 37:226-233.
73. Miettinen M, Killian JK, Wang ZF, et al. Immunohistochemical loss of succinate dehydrogenase subunit A (SDHA) in gastrointestinal stromal tumors (GISTs) signals SDHA germline mutation. Am J Surg Pathol 2013; 37:234-240.
74. Matyakhina L, Bei TA, McWhinney SR, et al. Genetics of carney triad: recurrent losses at chromosome 1 but lack of germline mutations in genes associated with paragangliomas and gastrointestinal stromal tumors. J Clin Endocrinol Metab 2007; 92:2938-2943.
75. Kelly L, Bryan K, Ki SY, et al. Posttranscriptional dysregulation by miRNAs is implicated in the pathogenesis of gastrointestinal stromal tumor [GIST]. PLoS One 2013; 8:e64102.