A prospective study of neurofibromatosis type 1 cancer incidence in the UK

Walker, Lisa; Thompson, Deborah J.; Easton, Douglas F.; Ponder, Bruce A.J.; Ponder, M. A.; Frayling, Ian Martin; Baralle, Diana

doi:10.1038/sj.bjc.6603227

Cited by 214 publications

(212 citation statements)

References 21 publications

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Section: Figure 1 Case 1 (A) Initial Coronal and Axial Magnetic Resomentioning

confidence: 99%

“…The overall incidence of cancer in nf1 patients is 2.7 times that in the general population; in nf1 patients less than 20 years of age, it is 27.8 times the incidence in the age-matched general population 8 . The most common tumours in nf1 are mpnst and gliomas; however, other malignancies have been associated with nf1, including rhabdomyosarcoma 9 , pheochromocytoma 10 , breast cancer 8 , and leukemia 11 . A review of previously published cohorts and population-based studies of individuals with nf1 described an incidence of malignancy between 4% and 52%, but identified only a single case of germcell tumour (malignant teratoma of the retroperitoneum in a Japanese registry 12 ) and no cases of hl among 535 nf1-associated malignancies reviewed 13 .…”

Section: Figure 1 Case 1 (A) Initial Coronal and Axial Magnetic Resomentioning

confidence: 99%

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fdg-pet in Two Cases of Neurofibromatosis Type 1 and Atypical Malignancies

et al. 2014

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A 6-year-old boy was referred for evaluation of a nontender 4-cm left axillary mass, which had recently increased in size. On examination, 6 café-au-lait macules more than 5 mm in diameter were noted, as well as axillary freckling, meeting the clinical diagnostic criteria for nf1.Chest radiography revealed no active disease in the thorax; a complete blood count was normal; and the erythrocyte sedimentation rate was not elevated. Magnetic resonance imaging using multiplanar short T1 inversion recovery sequences revealed a 3×1.6×5-cm mass within the left axilla abutting the chest wall (Figure 1). Imaging characteristics were consistent with benign neurofibroma, mpnst, or lymph node expansion from other malignancy. Because of the tumour's rapid growth, imaging by combined fdg-pet and computed tomography (ct) was obtained to evaluate the lesion's malignant potential. Images revealed a hypermetabolic focus with a maximum standardized uptake value (suv max ) of 5.8 that corresponded with the soft-tissue mass.Because of the increased fdg uptake and recent growth, excisional biopsy was performed. Pathology was consistent with nodular lymphocyte-predominant Hodgkin lymphoma (hl). Imaging of neck, chest, abdomen and pelvis by ct with intravenous contrast showed no other tumours, and the child received no further therapy at that time.He returned 3 months after surgery for surveillance fdg-pet-ct, which revealed no increased fdg uptake in the left axilla, but a new focus of abnormal activity in the left chest wall with an suv max of 5.4, corresponding to a 1.9×1.2-cm soft-tissue mass under the pectoralis major muscle that had not been present during the earlier study. Based on the imaging, a second surgical resection was performed, and histologic evaluation confirmed recurrence of nodular lymphocyte-predominant hl. ABSTRACTPatients with neurofibromatosis type 1 (nf1) are at increased risk for both benign and malignant tumours, and distinguishing the malignant potential of an individual tumour is a common clinical problem in these patients. Here, we review two cases of uncommon malignancies (Hodgkin lymphoma and mediastinal germ-cell tumour) in patients with nf1. Although 18 F-fluorodeoxyglucose positron-emission tomography (fdg-pet) has been used to differentiate benign neurofibromas from malignant peripheral nerve sheath tumours, fdg-pet characteristics for more rare tumours have been poorly described in children with nf1. Here, we report the role of pet imaging in clinical decision-making in each case. In nf1, fdg-pet might be useful in the clinical management of unusual tumour presentations and might help to provide information about the malignant potential of uncommon tumours.

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Section: Figure 1 Case 1 (A) Initial Coronal and Axial Magnetic Resomentioning

confidence: 99%

Section: Figure 1 Case 1 (A) Initial Coronal and Axial Magnetic Resomentioning

confidence: 99%

fdg-pet in Two Cases of Neurofibromatosis Type 1 and Atypical Malignancies

et al. 2014

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“…The protein encoded by neurofibromatosis 1 (NF1) functions to catalyze the exchange of GTP for GDP in Ras -preventing cell proliferation. While it is reported that NF1 patients are predisposed to gliomagenesis [89], inactivating mutations in NF1 was not discovered in glioblastoma until recently [22,23,90,91]. The TCGA results indicated that approximately 20% of glioblastomas harbor loss of function mutations in NF1 [22, 23] and more significantly, mutations in NF1 appear to define a particular subtype of glioblastoma.…”

Section: Mutationsmentioning

confidence: 99%

Genetic Profiling: Searching for Novel Genetic Aberrations in Glioblastoma

Jamshidi¹,

Chen²

2013

Oncogenomics and Cancer Proteomics - Novel Approaches in Biomarkers Discovery and Therapeutic Targets in Cancer

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“…The protein encoded by neurofibromatosis 1 (NF1) functions to catalyze the exchange of GTP for GDP in Ras, consequently preventing cell proliferation. In this context, it is not surprising that NF1 patients are predisposed to gliomagenesis 16 . The TCGA results showed that approximately 20% of glioblastomas harbor loss of function mutations in NF1 3,4 .…”

Section: Self-sufficiency In Growth Signals -The Receptor Tyrosine Kimentioning

confidence: 99%

Molecular Etiology of Glioblastomas: Implication of Genomic Profiling From the Cancer Genome Atlas Project

Ng¹,

Kesari²,

Carter³

et al. 2011

Glioma - Exploring Its Biology and Practical Relevance

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GlioblastomaGlioblastoma is the most common form of primary brain tumor, with dismal prognosis. The incidence of this tumor is fairly low, with 2-3 cases per 100,000 people in Europe and North America. Despite its rarity, overall mortality related to glioblastoma is comparable to the more prevalent tumors 5 . This is, in large part, due to the near uniform fatality of the afflicted patients. Indeed, glioblastoma is one of the most aggressive of the malignant tumors. Without treatment, the median survival is approximately 3 months 6 . The current standard of treatment involves maximal surgical resection followed by concurrent radiation therapy and www.intechopen.com Glioma -Exploring Its Biology and Practical Relevance 26 chemotherapy with the DNA alkylating agent, temozolomide 7 . With this regimen, the median survival is approximately 14 months. For nearly all affected, the treatments available remain palliative. Studies carried out over the past three decades suggest that glioblastomas, like other cancers, arise secondary to the accumulation of genetic alterations. These alterations can take the form of epigenetic modifications, point mutations, translocations, amplifications, or deletions, and modify gene function in ways that deregulate cellular signaling pathways leading to the cancer phenotype 1 . The exact number and nature of genetic alterations and deregulated signaling pathways required for tumorogenesis remains an issue of debate 8 , although it is now clear that CNS carcinogenesis requires multiple disruptions to the normal cellular circuitry 3, 4 .

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A prospective study of neurofibromatosis type 1 cancer incidence in the UK

Cited by 214 publications

References 21 publications

fdg-pet in Two Cases of Neurofibromatosis Type 1 and Atypical Malignancies

fdg-pet in Two Cases of Neurofibromatosis Type 1 and Atypical Malignancies

Genetic Profiling: Searching for Novel Genetic Aberrations in Glioblastoma

Molecular Etiology of Glioblastomas: Implication of Genomic Profiling From the Cancer Genome Atlas Project

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