Establishment of in-hospital clinical network for patients with neurofibromatosis type 1 in Nagoya University Hospital

AbstractNeurofibromatosis type 1 (NF1) is a genetic multisystem disorder. Clinicians must be aware of the diverse clinical features of this disorder in order to provide optimal care for it. We have set up an NF1 in-hospital medical care network of specialists regardless of patient age, launching a multidisciplinary approach to the disease for the first time in Japan. From January 2014 to December 2020, 246 patients were enrolled in the NF1 patient list and medical records. Mean age was 26.0 years ranging from 3 months to 80 years. The number of patients was higher as age at first visit was lower. There were 107 males (41%) and 139 females. After 2011, the number of patients has increased since the year when the medical care network was started. Regarding orthopedic signs, scoliosis was present in 60 cases (26%), and bone abnormalities in the upper arm, forearm, and tibia in 8 cases (3.5%). Neurofibromas other than cutaneous neurofibromas were present in 90 cases (39%), and MPNST in 17 cases (7.4%). We launched a multidisciplinary NF1 clinic system for the first time in Japan. For patients with NF1, which is a hereditary and systemic disease associated with a high incidence of malignant tumors, it will be of great benefit when the number of such clinics in Japan and the rest of Asia is increased.

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Coordinated medical care for children with neurofibromatosis type 1 and related RASopathies in Poland

Archives of Medical Science ◽

10.5114/aoms.2019.85143 ◽

2019 ◽

Author(s):

Marek W. Karwacki ◽

Mariusz Wysocki ◽

Marta Perek-Polnik ◽

Agnieszka Jatczak-Gaca

Keyword(s):

Medical Care ◽

Neurofibromatosis Type 1 ◽

Neurofibromatosis Type

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TP53 mutations in malignant tumors in neurofibromatosis type 1

Cancer Genetics and Cytogenetics ◽

10.1016/0165-4608(94)90332-8 ◽

1994 ◽

Vol 77 (2) ◽

pp. 174

Keyword(s):

Neurofibromatosis Type 1 ◽

Malignant Tumors ◽

Neurofibromatosis Type ◽

Tp53 Mutations

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Establishing the diagnosis neurofibromatosis type 1: A rare case

Dermatology Reports ◽

10.4081/dr.2019.8092 ◽

2019 ◽

Author(s):

Dyatiara Devy ◽

D. Damayanti

Keyword(s):

Neurofibromatosis Type 1 ◽

De Novo ◽

Malignant Tumors ◽

Neurofibromatosis Type ◽

The Body ◽

Multisystem Disorder ◽

Wide Range ◽

Multidisciplinary Clinic ◽

History Of

Neurofibromatosis type 1 (NF1) or Von Recklinghausen's disease is a dominantly inherited genetic, multisystem disorder. Individuals with neurofibromatosis type 1 are prone to develop benign and malignant tumors of the CNS and peripheral nervous system, in addition to malignant diseases affecting other parts of the body. About 50% of individuals with neurofibromatosis type 1 have no family history of the disease and the disease is due to de novo (spontaneous) mutations. Early diagnosis is challenging because of its extremely variable characteristics. Some individuals may be mildly affected showing minimal signs, whereas others are severely afflicted. Individuals with NF-1 are best cared for within a multidisciplinary clinic, which has access to a wide range of subspecialists. The dermatologist has a role not only in the diagnosis of NF1 and differentiating it from other similar disorders, but also in the recognition of rare associated skin manifestations.

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Chromosome 17 loss-of-heterozygosity studies in benign and malignant tumors in neurofibromatosis type 1

Genes Chromosomes and Cancer ◽

10.1002/1098-2264(200008)28:4<425::aid-gcc8>3.0.co;2-e ◽

2000 ◽

Vol 28 (4) ◽

pp. 425-431 ◽

Cited By ~ 71

Author(s):

Sonja A. Rasmussen ◽

Jennifer Overman ◽

Susanne A.M. Thomson ◽

Steven D. Colman ◽

Corinne R. Abernathy ◽

...

Keyword(s):

Loss Of Heterozygosity ◽

Neurofibromatosis Type 1 ◽

Malignant Tumors ◽

Neurofibromatosis Type ◽

Chromosome 17

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A Case Report of a Malignant Peripheral Nerve Sheath Tumor of the Oral Cavity in Neurofibromatosis Type 1

Case Reports in Otolaryngology ◽

10.1155/2012/936735 ◽

2012 ◽

Vol 2012 ◽

pp. 1-3 ◽

Cited By ~ 2

Author(s):

Özmen Öztürk ◽

Alper Tutkun

Keyword(s):

Peripheral Nerve ◽

Neurofibromatosis Type 1 ◽

Malignant Tumors ◽

Rapid Change ◽

Neurofibromatosis Type ◽

Nerve Sheath Tumor ◽

Peripheral Nerve Sheath Tumors ◽

Nerve Sheath ◽

Adjacent Structures

Patients with neurofibromatosis type 1 develop both benign and malignant tumors at an increased frequency. Most of the malignant peripheral nerve sheath tumors (MPNSTs) are considered as high-grade sarcomas originating from tissues of mesenchymal origin. It is generally accepted that MPNSTs occur in about 2% to 5% of neurofibromatosis patients. In this paper, we present a 16-year-old male patient with neurofibromatosis who developed MPNST of the retromolar area. The mass enlarged rapidly in a period of 6 weeks. The patient was treated surgically, and a tumor mass with a diameter of cm was excised, but after 8 months a recurrence was observed at the same site. The sarcomatous change in a neurofibroma has an extremely poor prognosis, so patients with neurofibromatosis should be closely monitored for a possible malignancy. A rapid change in size of a preexisting neurofibroma, infiltration of the adjacent structures, intralesional hemorrhage, and pain indicate a possible malignant transformation to MPNST.

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Malignant Peripheral Nerve Sheath Tumor of the Inguinum and Angiosarcoma of the Scalp in a Child with Neurofibromatosis Type 1

Case Reports in Pathology ◽

10.1155/2017/7542825 ◽

2017 ◽

Vol 2017 ◽

pp. 1-4

Author(s):

Marija Milković Periša ◽

Tihana Džombeta ◽

Jasminka Stepan Giljević ◽

Božo Krušlin

Keyword(s):

Peripheral Nerve ◽

Neurofibromatosis Type 1 ◽

Malignant Tumors ◽

Young Patients ◽

Neurofibromatosis Type ◽

Nerve Sheath Tumor ◽

Peripheral Nerve Sheath Tumor ◽

Nerve Sheath ◽

The Right

Benign and malignant tumors are common in the setting of neurofibromatosis type 1 (NF1). Malignant peripheral nerve sheath tumor (MPNST) and angiosarcoma are rare tumors in children and adolescents and mostly occur in young patients in relation to NF1. Both histological types can be present in the same tumor mass in patients with NF1. We present a case of 12.5-year-old girl with NF1 who first presented with MPNST of the right inguinal region and 1.5 years later with unrelated angiosarcoma of the scalp.

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Intestinal Obstruction and Pheochromocytoma in a Patient Suffering from von Recklinghausen's Disease

Clinical medicine Endocrinology and diabetes ◽

10.4137/cmed.s3315 ◽

2009 ◽

Vol 2 ◽

pp. CMED.S3315

Author(s):

B. Bouhanick ◽

M. Berry ◽

S. Hascouet ◽

J. Selves ◽

J.M. Coindre ◽

...

Keyword(s):

Adrenal Gland ◽

Intestinal Obstruction ◽

Surgical Resection ◽

Neurofibromatosis Type 1 ◽

Complex Disease ◽

Malignant Tumors ◽

Neurofibromatosis Type ◽

Left Adrenal Gland ◽

Inherited Diseases

GISTs are rare neoplasms, which were recently identified to be a distinct pathologic entity. They can develop in patients with neurofibromatosis type 1 (NF1) or may be sporadic. NF1 is one of the most common inherited diseases and is a complex disease, with patients having an increased prevalence of benign and malignant tumors, including pheochromocytomas. The association of pheochromocytoma(s) and GISTs in NF1 is very rare. We report an additional case of this triple association in a normotensive 60-year-old female with NF1 admitted for intestinal obstruction: a pheochromocytoma of the left adrenal gland was discovered and surgical resection is performed. We provide an overview of the literature. The coexistence of NF1-related pheochromocytoma and GISTs is uncommon, but perhaps not fortuitous, and endocrinologists should be aware of this.

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

Case Reports in Medicine ◽

10.1155/2015/456205 ◽

2015 ◽

Vol 2015 ◽

pp. 1-6 ◽

Cited By ~ 4

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.

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Trametinib for aggressive gliomas in adults with neurofibromatosis type 1.

Journal of Clinical Oncology ◽

10.1200/jco.2019.37.15_suppl.e13562 ◽

2019 ◽

Vol 37 (15_suppl) ◽

pp. e13562-e13562

Author(s):

Carlos G Romo ◽

Bronwyn L Slobogean ◽

Lindsay Karen Blair ◽

Jaishri O'Neill Blakeley

Keyword(s):

Neurofibromatosis Type 1 ◽

Clinical Benefit ◽

Malignant Tumors ◽

Synergistic Effects ◽

Single Agent ◽

Retrospective Chart Review ◽

Optimal Dose ◽

Neurofibromatosis Type ◽

Low Grade

e13562 Background: Neurofibromatosis type 1 (NF1) is caused by mutations of the tumor suppressor gene NF1 resulting in decreased levels of neurofibromin and dysregulation of the RAS pathway, including MEK/ERK upregulation. NF1 is characterized by multiple benign and malignant tumors. Central nervous system tumors have an overall standardized incidence ratio of 37.5 in population studies with high rates of aggressive gliomas in adults with NF1. The response to standard glioma therapies is mixed. MEK1/2 inhibitors have shown activity in NF1 driven plexiform neurofibromas and low grade gliomas, however, data is lacking about the optimal dose or sequencing of MEK1/2 inhibitors for adults with NF1 associated aggressive gliomas. We present recent experiences with the MEK1/2 inhibitor trametinib in adults with NF1 and aggressive gliomas. Methods: A retrospective chart review was conducted on all adult patients with NF1 and astrocytoma treated with trametinib at the Johns Hopkins Brain Cancer Program between 2016-2018. Results: Three patients met selection criteria. Two received trametinib as initial therapy (2 mg daily). All developed an acneiform rash; one had transient transaminitis requiring temporary discontinuation and subsequent dose reductions. Clinical benefit was achieved associated with two partial radiographic responses. Conclusions: Astrocytomas in adults with NF1 often have a more aggressive course than suggested by histology. The cases presented here demonstrate clinical benefit from single agent MEK inhibition as well as possible synergistic effects with conventional therapies for gliomas in this patient population. These observations highlight the need for further research in this area. [Table: see text]

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