Neurofibromatosis type 1: New developments in genetics and treatment

Wilson, Britney N.; John, Ann M; Handler, Marc Z.; Schwartz, Robert A.

doi:10.1016/j.jaad.2020.07.105

Cited by 50 publications

(59 citation statements)

References 120 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…The presence of two or more of the following criteria are necessary: (1) six or more café-au-lait macules (greater than five millimeters in diameter in prepubertal individuals and greater than 15 millimeters in postpubertal individuals); (2) two or more neurofibromas (of any type) or one plexiform neurofibroma; (3) freckling (which are small light brown colored pigmented lesions known as Crowe sign) in the axillary or inguinal regions; (4) optic pathway glioma; (5) two or more Lisch nodules (which are pigmented iris hamartomas); (6) a distinctive osseous lesion (such as sphenoid wing dysplasia--which is a defect of the skull base--or thinning of long bone cortex, with or without pseudoarthrosis); and (7) a first-degree relative (such as a parent, sibling, or offspring) with NF1 based on the above criteria. The patient in this report had four diagnostic criteria for NF1: multiple neurofibroma, axillary freckling, more than two Lisch nodules, and several siblings with NF1 [ 1 - 3 ].…”

Section: Discussionmentioning

confidence: 99%

“…They include not only features that have been incorporated into the diagnostic criteria for the syndrome (such as axillary and inguinal freckling, café-au-lait macules, and neurofibromas), but also other skin conditions (such as Becker nevus, juvenile xanthogranuloma, lipoma, melanoma, nevus anemicus, nevus spilus, poliosis, and psoriasis). The patient described in this paper had both numerous neurofibromas and extensive freckling that involved not only her left axilla extending onto her left arm but also involving the scapular area of her left upper back and the skin adjacent to and beneath her left breast [ 1 - 3 ].…”

Section: Discussionmentioning

confidence: 99%

“…Some of the malignant neoplasms in adults are breast cancer, gastrointestinal stromal tumor, malignant glioma (and glioma of the brainstem that behave in an aggressive manner by causing obstructive hydrocephalus), malignant peripheral nerve sheath tumor, and rhabdomyosarcoma, In children with NF1, there is an increased risk of duodenal carcinoids, pheochromocytoma, and Wilms tumor. Indeed, NF1 patients can sequentially develop multiple malignant cancers [ 1 , 3 , 9 - 11 ].…”

Section: Discussionmentioning

confidence: 99%

“…The diagnosis of NF1 occurs equally in all ethnic groups. However, differences in penetrance and expressivity may exist; for example, pediatric brain tumors are more common in Europeans than Africans or Asians [ 3 ].…”

Section: Discussionmentioning

confidence: 99%

“…The condition results from a mutation in the NF1 gene which is located on the long arm of chromosome 17 (17q11.2); the NF1 gene codes for neurofibromin, a tumor suppressor protein that regulates cell growth and tumorigenesis. In addition to cutaneous features, NF1 can have multiple other potential manifestations: cardiovascular, endocrinologic, neurologic, oncologic, ophthalmologic, and orthopedic [ 1 - 3 ].…”

Section: Introductionmentioning

confidence: 99%

See 4 more Smart Citations

Chronic Lymphocytic Leukemia in Neurofibromatosis Type 1 Patients: Case Report and Literature Review of a Rare Occurrence

Cohen¹

2021

Cureus

View full text Add to dashboard Cite

Neurofibromatosis type 1 (NF1) is an autosomal dominant genodermatosis that may also occur as the result of a spontaneous mutation. The diagnosis can be established by the presence of two of the seven National Institutes of Health (NIH) diagnostic criteria; several dermatologic manifestations are NIH criteria used to establish the diagnosis: axillary and inguinal freckling, café-au-lait macules, and neurofibromas. Mucosal evaluation of the eyes may detect a fourth criteria: pigmented iris hamartomas (Lisch nodules). The remaining NIH criteria include optic path glioma, distinctive osseus lesions, and a positive family history of the condition. A breast cancer 2 (BRCA2) positive woman with NF1 and chronic lymphocytic leukemia is described. Patients with NF1 have an increased lifetime risk to develop breast cancer, gastrointestinal stromal tumor, malignant glioma, malignant peripheral nerve sheath tumor, and rhabdomyosarcoma. Chronic lymphocytic leukemia occurring in NF1 patients is rare; including my female patient reported in this paper, chronic lymphocytic leukemia has only been reported in three individuals with NF1--two women and one man. The man and the other woman presented with advanced chronic lymphocytic leukemia and treatment with antineoplastic therapy at diagnosis; the man achieved clinical remission and the woman passed away from complications associated with therapy-refractory progression of her leukemia. My female patient required treatment 41 months after diagnosis and had a good clinical response; she has been without significant disease progression for 34 months. Similar to NF1, breast cancer 1 (BRCA1) and BRCA2 mutations are associated with an increased lifetime risk of developing cancer--particularly breast and ovarian carcinoma. An increased risk of chronic lymphocytic leukemia has also been demonstrated in patients with mutations of either BRCA1 or BRCA2. Also, albeit uncommon, either BRCA1 or BRCA2 mutation has been detected in women with NF1 who develop breast cancer. In conclusion, the development of chronic lymphocytic leukemia in NF1 patients may be coincidental and not associated with the underlying genodermatosis; however, the occurrence of chronic lymphocytic leukemia in my patient with NF1, in part, may be related to her BRCA2 positivity.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Chronic Lymphocytic Leukemia in Neurofibromatosis Type 1 Patients: Case Report and Literature Review of a Rare Occurrence

Cohen¹

2021

Cureus

View full text Add to dashboard Cite

show abstract

Inherited Skin Tumour Syndromes

Rajan,

Mellerio,

Irvine

2024

Rook's Textbook of Dermatology

View full text Add to dashboard Cite

This chapter covers three exemplar inherited skin tumour syndromes: neurofibromatosis type 1 (NF1), the tuberous sclerosis complex and familial adenomatous polyposis, as well as providing an overview of inherited tumour syndromes with cutaneous manifestations. NF1, tuberous sclerosis complex and familial adenomatous polyposis have diverse clinical and genetic features and require disease‐specific knowledge for diagnosis, along with targeted interventions and cancer surveillance plans. All three share in common the clinical presentation of multiple benign skin tumours, which are often pathognomonic for these genetic conditions, and a significant risk of cutaneous and non‐cutaneous neoplasia. The chapter reviews the clinical features of these conditions, their genetic bases and diagnostic tests and provide guidance for management of these conditions.

show abstract

Portal cavernoma in type 1 neurofibromatosis: A fortuitous or causal association?

Ashworth

Abreu

Guerra

et al. 2023

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Neurofibromatosis type 1 (NF‐1) is a multisystem genetic disorder affecting the NF1 tumor suppressor gene. Patients typically develop superficial (cutaneous) and internal (plexiform) neurofibromas. The latter may rarely involve the liver locating in the hilum and encasing the portal vessels, leading to portal hypertension. Vascular abnormalities (NF‐I vasculopathy) are a well‐recognized manifestation of NF‐1. Although the pathogenesis is not well‐known, NF‐1 vasculopathy involves arteries of both peripheral and cerebral territories, with venous thrombosis being exceptionally reported. Portal venous thrombosis (PVT) is the leading cause of portal hypertension in childhood and has been associated with several risk factors. Nevertheless, predisposing conditions remain unknown in more than 50% of the cases. The treatment options are limited, and its management is nonconsensual in the pediatric age. We report the case of a 9‐year‐old boy with clinically and genetically confirmed NF‐1, diagnosed with portal venous cavernoma after an episode of gastrointestinal bleeding. There were no identifiable risk factors for PVT and intrahepatic peri‐hilar plexiform neurofibroma was excluded by MRI imaging. To the best of our knowledge, this is the first report of PVT in NF‐1. We speculate that NF‐1 vasculopathy may have been a pathogenic factor, or instead, it was a fortuitous association.

show abstract

Neurofibromatosis type 1: New developments in genetics and treatment

Cited by 50 publications

References 120 publications

Chronic Lymphocytic Leukemia in Neurofibromatosis Type 1 Patients: Case Report and Literature Review of a Rare Occurrence

Chronic Lymphocytic Leukemia in Neurofibromatosis Type 1 Patients: Case Report and Literature Review of a Rare Occurrence

Inherited Skin Tumour Syndromes

Portal cavernoma in type 1 neurofibromatosis: A fortuitous or causal association?

Contact Info

Product

Resources

About