Neoplasms Associated with Germline and Somatic <i>NF1</i> Gene Mutations

Patil, Sachin; Chamberlain, Ronald S.

doi:10.1634/theoncologist.2010-0181

Cited by 97 publications

(72 citation statements)

References 224 publications

(258 reference statements)

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“…Embryonal rhabdomyosarcoma (eRMS) Although the prevalence of embryonal rhabdomyosarcoma in NF1 populations had been estimated as high as 1.4% to 6%, larger series confirm a risk of less than 1% (17,45,46) but still higher than in the general population. The urogenital system is the most common anatomic site involved, although other localizations have been reported (orbit is the second most frequent localization).…”

Section: Malignancies In Nf1mentioning

confidence: 99%

Cancer and Central Nervous System Tumor Surveillance in Pediatric Neurofibromatosis 1

Evans

Salvador

Chang

et al. 2017

Clinical Cancer Research

141

120

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Although the neurofibromatoses consist of at least three autosomal dominantly inherited disorders, neurofibromatosis 1 (NF1), neurofibromatosis 2 (NF2), and schwannomatosis, NF1 represents a multisystem pleiotropic condition very different from the other two. NF1 is a genetic syndrome first manifesting in childhood; affecting multiple organs, childhood development, and neurocognitive status; and presenting the clinician with often complex management decisions that require a multidisciplinary approach. Molecular genetic testing (see article for detailed discussion) is recommended to confirm NF1, particularly in children fulfilling only pigmentary features of the diagnostic criteria. Although cancer risk is not the major issue facing an individual with NF1 during childhood, the condition causes significantly increased malignancy risks compared with the general population. Specifically, NF1 is associated with highly elevated risks of juvenile myelomonocytic leukemia, rhabdomyosarcoma, and malignant peripheral nerve sheath tumor as well as substantial risks of noninvasive pilocytic astrocytoma, particularly optic pathway glioma (OPG), which represent a major management issue. Until 8 years of age, clinical assessment for OPG is advised every 6 to 12 months, but routine MRI assessment is not currently advised in asymptomatic individuals with NF1 and no signs of clinical visual pathway disturbance. Routine surveillance for other malignancies is not recommended, but clinicians and parents should be aware of the small risks (<1%) of certain specific individual malignancies (e.g., rhabdomyosarcoma). Tumors do contribute to both morbidity and mortality, especially later in life. A single whole-body MRI should be considered at transition to adulthood to assist in determining approaches to long-term follow-up. Clin Cancer Res; 23(12); e46–e53. ©2017 AACR. See all articles in the online-only CCR Pediatric Oncology Series.

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Section: Malignancies In Nf1mentioning

confidence: 99%

Cancer and Central Nervous System Tumor Surveillance in Pediatric Neurofibromatosis 1

Evans

Salvador

Chang

et al. 2017

Clinical Cancer Research

141

120

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“…Patil and Chamberlain reviewed the literature for neoplasm associated with germline and somatic NF1 gene mutations (6). Treatment is the same with sporadic breast cancer cases.…”

Section: Discussionmentioning

confidence: 99%

Bilateral Breast Cancer with Neurofibromatosis Type 1 Patient: Case Report

Dursun

Aktaş

Altun

et al. 2017

Eur J Breast Health

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“…14,15 The NF1 gene contains a GAP domain with a conserved arginine finger motif. 16 Taken together, the facts that clinical NF1 is a dominantly inherited cancer predisposition syndrome, NRAS and KRAS are frequently mutated in human cancers, and neurofibromin is a Ras GAP 16,17 suggested that NF1 was a bona fide tumor suppressor gene.…”

Section: Nf1mentioning

confidence: 99%

Bedside to bench in juvenile myelomonocytic leukemia: insights into leukemogenesis from a rare pediatric leukemia

Chang

Dvorak

Loh

2014

Blood

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Juvenile myelomonocytic leukemia (JMML) is a typically aggressive myeloid neoplasm of childhood that is clinically characterized by overproduction of monocytic cells that can infiltrate organs, including the spleen, liver, gastrointestinal tract, and lung. JMML is categorized as an overlap myelodysplastic syndrome/myeloproliferative neoplasm (MDS/MPN) by the World Health Organization and also shares some clinical and molecular features with chronic myelomonocytic leukemia, a similar disease in adults. Although the current standard of care for patients with JMML relies on allogeneic hematopoietic stem cell transplant, relapse is the most frequent cause of treatment failure. Tremendous progress has been made in defining the genomic landscape of JMML. Insights from cancer predisposition syndromes have led to the discovery of nearly 90% of driver mutations in JMML, all of which thus far converge on the Ras signaling pathway. This has improved our ability to accurately diagnose patients, develop molecular markers to measure disease burden, and choose therapeutic agents to test in clinical trials. This review emphasizes recent advances in the field, including mapping of the genomic and epigenome landscape, insights from new and existing disease models, targeted therapeutics, and future directions.

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Neoplasms Associated with Germline and Somatic NF1 Gene Mutations

Cited by 97 publications

References 224 publications

Cancer and Central Nervous System Tumor Surveillance in Pediatric Neurofibromatosis 1

Cancer and Central Nervous System Tumor Surveillance in Pediatric Neurofibromatosis 1

Bilateral Breast Cancer with Neurofibromatosis Type 1 Patient: Case Report

Bedside to bench in juvenile myelomonocytic leukemia: insights into leukemogenesis from a rare pediatric leukemia

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