scholarly journals Increased risk of breast cancer in neurofibromatosis type 1: current insights

2017 ◽  
Vol Volume 9 ◽  
pp. 531-536 ◽  
Author(s):  
Sacha J Howell ◽  
Kimberley Hockenhull ◽  
Zena Salih ◽  
D Gareth Evans
Keyword(s):  
Breast Cancer ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Increased Risk

scholarly journals Association between Neurofibromatosis Type 1 and Breast Cancer: A Report of Two Cases with a Review of the Literature

2015 ◽  
Vol 2015 ◽  
pp. 1-6 ◽  
Author(s):  
Yoon Nae Seo ◽  
Young Mi Park
Keyword(s):  
Breast Cancer ◽  
Neurofibromatosis Type 1 ◽  
Malignant Tumors ◽  
Genetic Diseases ◽  
Neurofibromatosis Type ◽  
Review Of The Literature ◽  
Increased Risk

Neurofibromatosis type 1 (NF1) is one of the most common genetic diseases in humans and is associated with various benign and malignant tumors, including breast cancer. However, an increased risk of breast cancer in NF1 patients has not been widely recognized or accepted. Here, we report two cases of breast cancer in NF1 patients and review the literature on the association between NF1 and breast cancer.

scholarly journals Breast cancer risk and germline genomic profiling of women with neurofibromatosis type 1 who developed breast cancer

2017 ◽  
Vol 57 (1) ◽  
pp. 19-27 ◽  
Author(s):  
Xia Wang ◽  
Jamie K. Teer ◽  
Renee N. Tousignant ◽  
Albert M. Levin ◽  
David Boulware ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Genomic Profiling

Breast cancer in a patient with neurofibromatosis type 1

2017 ◽  
Vol 24 (4) ◽  
pp. 666-668
Author(s):  
Mandeep Garg ◽  
Nidhi Prabhakar ◽  
Veenu Singla ◽  
Tulika Singh ◽  
Gurpreet Singh ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type

scholarly journals Pulmonary hypertension associated with neurofibromatosis type 1

2018 ◽  
Vol 27 (149) ◽  
pp. 180053 ◽  
Author(s):  
Etienne-Marie Jutant ◽  
Barbara Girerd ◽  
Xavier Jaïs ◽  
Laurent Savale ◽  
Caroline O'Connell ◽  
...  
Keyword(s):  
Pulmonary Hypertension ◽  
Lung Disease ◽  
Neurofibromatosis Type 1 ◽  
Genetic Disorder ◽  
Neurofibromatosis Type ◽  
Pulmonary Vascular Disease ◽  
Increased Risk ◽  
Parenchymal Lung Disease ◽  
Parenchymal Lung

Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is a frequent autosomal dominant genetic disorder with a prevalence of 1 in 3000. Pulmonary hypertension (PH) associated with NF1 (PH-NF1) is a rare but severe complication of NF1 and is classified as Group 5 PH, defined as “PH with unclear and/or multifactorial mechanisms”. A literature review in PubMed on the association between NF1 and PH identified 18 articles describing 31 cases. PH-NF1 was characterised by a female predominance, an advanced age at diagnosis, an association with parenchymal lung disease in two out of three cases and poor long-term prognosis. NF1 is generally associated with interstitial lung disease but some cases of severe PH without parenchymal lung disease suggest that there could be a specific pulmonary vascular disease. There is no data available on the efficacy of specific pulmonary arterial hypertension treatment in PH-NF1. Therefore, these patients should be evaluated in expert PH centres and referred for lung transplantation at an early stage. As these patients have an increased risk of malignancy, careful assessment of the post-transplant malignancy risk prior to listing for transplantation is necessary. Clinical trials are needed to evaluate promising treatments targeting the RAS-downstream signalling pathways.

scholarly journals Metachronous bilateral triple‑negative breast cancer associated with neurofibromatosis type 1: A case report

2019 ◽  
Author(s):  
Yoji Yamagishi ◽  
Takahiro Einama ◽  
Tamio Yamasaki ◽  
Tomomi Koiwai ◽  
Miyuki Hiratsuka ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Case Report ◽  
Triple Negative Breast Cancer ◽  
Neurofibromatosis Type 1 ◽  
Triple Negative ◽  
Neurofibromatosis Type

scholarly journals Pathological fracture of non-ossifying fibroma associated with neurofibromatosis type 1

2019 ◽  
Vol 12 (7) ◽  
pp. e228170 ◽  
Author(s):  
James Ritchie Gill ◽  
Tamer Magid EL Nakhal ◽  
Soo-Mi Park ◽  
Mariusz Chomicki
Keyword(s):  
Clinical Features ◽  
Neurofibromatosis Type 1 ◽  
Pathological Fracture ◽  
Neurofibromatosis Type ◽  
Ossifying Fibroma ◽  
Pathological Fractures ◽  
Cast Immobilisation ◽  
Increased Risk ◽  
Operative Fixation

We report the management of a pathological fracture through a proximal tibial non-ossifying fibroma (NOF) in a 13-year-old girl with neurofibromatosis type 1 (NF1). The fracture was minimally displaced, and the lesion had clinical features of a NOF, and therefore biopsy was not required. Operative fixation has been the preferred method of treatment for pathological fractures through NOF associated with NF1. Multiple NOFs associated with NF1 are rare but can coalesce resulting in large lesions with an increased risk of pathological fracture. In cases which permit, non-operative treatment with cast immobilisation can yield satisfactory results.

scholarly journals Breast cancer in neurofibromatosis type 1: overrepresentation of unfavourable prognostic factors

2016 ◽  
Vol 116 (2) ◽  
pp. 211-217 ◽  
Author(s):  
Elina Uusitalo ◽  
Roope A Kallionpää ◽  
Samu Kurki ◽  
Matti Rantanen ◽  
Janne Pitkäniemi ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Prognostic Factors ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type
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