Malignant and benign tumors in patients with neurofibromatosis type 1 in a defined Swedish population

Zöller, Madeleine E. T.; Rembeck, Birgitta; Odén, Anders; Samuelsson, Matilda; Angervall, Lennart

doi:10.1002/(sici)1097-0142(19970601)79:11<2125::aid-cncr9>3.0.co;2-n

Cited by 348 publications

(220 citation statements)

References 17 publications

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“…In most cases, the hypertension is essential, but a characteristic NF1 vasculopathy can produce renal artery stenosis, coarctation of the aorta, or other vascular lesions associated with hypertension. A renovascular cause is often found in children with NF1 and hypertension [23,24] The genotype…”

Section: The Phenotypementioning

confidence: 59%

Pheochromocytoma in von Hippel–Lindau disease and neurofibromatosis type 1

et al. 2005

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Clinical and genetic understanding of chromaffin tumors has been greatly enhanced in the last few years. Although some pheochromocytoma genes may still be unknown, the role of RET, VHL, SDHB, SDHD and NF1 genes is unequivocal and phenotypes are also being better characterized. The loss of function of VHL and NF1 genes can lead to a variety of tumors including phechromocytoma and their mechanism of action is under intensive investigation. Many different mutations are responsible for VHL gene inactivation but only missense mutations have been described so far in families with pheochromocytoma. Because of its large size extensive mutation analysis of the NF1 gene has seldom been performed, and mutations have only been identified in about 15% of patients. Several point mutations have been found in exon 31. Differences in pheochromocytoma phenotype in VHL or NF1 are not very pronounced, but it may be of some interest to consider the two groups separately. In VHL, pheochromocytoma has an earlier onset than in sporadic forms, it is often multiple, and malignancy is less frequent. The mean age of diagnosis is 28 years, the youngest patient being 5 years old. In NF1 patients pheochromocytoma phenotype is similar to sporadic forms. The mean age of pheochromocytoma onset is 42 years; 84% of patients have solitary adrenal tumors, 9.6% have bilateral adrenal disease and 6.1% have ectopic pheochromocytomas; malignant pheochromocytomas were identified in 11.5% of the cases. The group of pheochromocytoma susceptibility genes includes, along with the tumor suppressor genes VHL and NF1, the proto-oncogene RET and the genes encoding succinate dehydrogenase subunit D and succinate dehydrogenase subunit B. Whether there is a common pathway among these different genes is still a matter of debate.

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Section: The Phenotypementioning

confidence: 59%

Pheochromocytoma in von Hippel–Lindau disease and neurofibromatosis type 1

et al. 2005

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“…O presente relato está em conformidade com outras publicações, que teem demonstrado que a associação de GIST e neurofibromatose tipo 1 não é casual 1,7,10,14,15 . Em particular, a faixa etária acometida pelos GISTs na neurofibromatose tipo 1 é menor do que em casos isolado5.…”

Section: Discussionunclassified

GISTs múltiplos em neurofibromatose tipo 1: diagnóstico incidental em paciente com abdome agudo

Filho¹,

Mendonça²,

Golbspan³

et al. 2009

ABCD, arq. bras. cir. dig.

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InTRODUÇÃOOs tumores do estroma gastrointestinal (GISTs) ocorrem predominantemente de forma esporádica e representam cerca de 1% de todas as neoplasias do trato gastrointestinal 12 . As evidências atuais apontam que a origem dos GISTs tem relação direta com as células intersticiais de Cajal, as quais fazem parte do plexo mioentérico do trato digestivo e são responsáveis pelo controle da motilidade intestinal 9 . Em geral os GISTs são neoplasias bem delimitadas que se projetam exofiticamente em direção à luz do órgão envolvido. Podem provocar sintomas obstrutivos e sangramento agudo ou crônico. Com menor frequência eles se expandem através da serosa e seu diâmetro pode atingir dezenas de centímetros 2 .A neurofibromatose tipo 1 (NF-1) ou doença de Von Recklinghausen é uma das desordens genéticas mais comuns e afeta cerca de 1 em cada 3.500 indivíduos 3 . Ela engloba um amplo espectro de manifestações patológicas que aparecem em diversas partes do corpo, com envolvimento dos tecidos cutâneo, ósseo, nervoso e de partes moles. Os achados mais comuns são manchas cutâneas do tipo "café-com-leite" 3 . Uma apresentação característica é o achado de neurofibromas de pele disseminados pela superfície corporal. Os indivíduos portadores apresentam risco aumentado de desenvolver neoplasias malignas em geral, incluindo tumores carcinóides, feocromocitoma e GISTs 14 . Em uma série de necropsias em pacientes com neurofibromatose tipo 1, foi detectada a presença de GISTs incidentais em um terço dos indivíduos 5 . No entanto, a verdadeira incidência dos GISTs e a possibilidade destes tumores se tornarem clinicamente significantes não é conhecida.O presente artigo relata um caso incomum de múltiplos GISTs associados à neurofibromatose tipo 1 que foram diagnosticados incidentalmente em paciente apresentando quadro de abdome agudo. RELATO DO CASO

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“…Based on a Swedish study of 70 patients with NF1, the incidence of GISTs in this population is approximately 7%. 33 We examined GISTs from NF1 patients for the presence of KIT mutations. The results showed that such tumors did not harbor any KIT gene mutations, and that sporadic GISTs in non-NF-1 patients did not have any detectable mutations of the NF1 gene.…”

Section: Gists In Patients With Neurofibromatosis Type 1 (Nf1)mentioning

confidence: 99%

Pathophysiology, diagnosis, and treatment of gastrointestinal stromal tumors

et al. 2005

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Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract. Activating mutations of KIT or the platelet-derived growth factor receptor alpha gene (PDGFRA) have been identified in the vast majority of GISTs. The respective oncoproteins exhibit constitutive tyrosine kinase activity and promote cell growth. KIT and PDGFRA mutations are rarely found in GISTs in patients with neurofibromatosis type 1 (NF1) suggesting that the pathogenesis of GIST in NF1 patients is different from that in non-NF1 patients. Endoscopic diagnosis of GIST is usually difficult. Endoscopic ultrasonography (EUS)-guided fine-needle aspiration biopsy (EUS-FNAB) is a useful method for the diagnosis of GIST and for the detection of KIT or PDGFRA mutations. Imatinib mesylate, a tyrosine kinase inhibitor known to inhibit the activities of BCR-ABL, KIT, and PDGFR, is currently being used for the treatment of both chronic myeloid leukemia and metastatic GIST. The clinical response to imatinib therapy correlates with the types of mutations of KIT and PDGFRA, and the determination of KIT and PDGFRA mutations is useful for predicting the effect of imatinib. Resistance to imatinib after an initial response has been reported; secondary point mutations in KIT or PDGFRA that confer imatinib resistance are the most common mechanisms responsible for acquired resistance to imatinib. The continued development of target-specific therapies should increase the probability of cure in most patients with GISTs.

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Malignant and benign tumors in patients with neurofibromatosis type 1 in a defined Swedish population

Cited by 348 publications

References 17 publications

Pheochromocytoma in von Hippel–Lindau disease and neurofibromatosis type 1

Pheochromocytoma in von Hippel–Lindau disease and neurofibromatosis type 1

GISTs múltiplos em neurofibromatose tipo 1: diagnóstico incidental em paciente com abdome agudo

Pathophysiology, diagnosis, and treatment of gastrointestinal stromal tumors

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