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

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.

Download Full-text

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.

Download Full-text

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.

Download Full-text

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.

Download Full-text

GermlineNF1Mutational Spectra and Loss-of-Heterozygosity Analyses in Patients with Pheochromocytoma and Neurofibromatosis Type 1

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jc.2006-2833 ◽

2007 ◽

Vol 92 (7) ◽

pp. 2784-2792 ◽

Cited By ~ 88

Author(s):

Birke Bausch ◽

Wiktor Borozdin ◽

Victor F. Mautner ◽

Michael M. Hoffmann ◽

Detlef Boehm ◽

...

Keyword(s):

Loss Of Heterozygosity ◽

Neurofibromatosis Type 1 ◽

Neurofibromatosis Type

Download Full-text

Dissecting loss of heterozygosity (LOH) in neurofibromatosis type 1-associated neurofibromas: Importance of copy neutral LOH

Human Mutation ◽

10.1002/humu.21387 ◽

2010 ◽

Vol 32 (1) ◽

pp. 78-90 ◽

Cited By ~ 42

Author(s):

Carles Garcia-Linares ◽

Juana Fernández-Rodríguez ◽

Ernest Terribas ◽

Jaume Mercadé ◽

Eva Pros ◽

...

Keyword(s):

Loss Of Heterozygosity ◽

Neurofibromatosis Type 1 ◽

Neurofibromatosis Type

Download Full-text

Mitotic recombination of chromosome arm 17q as a cause of loss of heterozygosity of NF1 in neurofibromatosis type 1-associated glomus tumors

Genes Chromosomes and Cancer ◽

10.1002/gcc.21928 ◽

2012 ◽

Vol 51 (5) ◽

pp. 429-437 ◽

Cited By ~ 22

Author(s):

Douglas R. Stewart ◽

Alexander Pemov ◽

Peter Van Loo ◽

Eline Beert ◽

Hilde Brems ◽

...

Keyword(s):

Loss Of Heterozygosity ◽

Neurofibromatosis Type 1 ◽

Neurofibromatosis Type ◽

Mitotic Recombination ◽

Glomus Tumors ◽

Chromosome Arm

Download Full-text

The NF1 gene: a frequent mutational target in sporadic pheochromocytomas and beyond

Endocrine Related Cancer ◽

10.1530/erc-13-0046 ◽

2013 ◽

Vol 20 (4) ◽

pp. C13-C17 ◽

Cited By ~ 10

Author(s):

Jenny Welander ◽

Peter Söderkvist ◽

Oliver Gimm

Keyword(s):

Mrna Expression ◽

Loss Of Heterozygosity ◽

Neurofibromatosis Type 1 ◽

Neurofibromatosis Type ◽

Germline Mutations ◽

Mutation Database ◽

Nf1 Gene ◽

Inactivating Mutations

Patients suffering from the neurofibromatosis type 1 syndrome, which is caused by germline mutations in the NF1 gene, have a tiny but not negligible risk of developing pheochromocytomas. It is, therefore, of interest that the NF1 gene has recently been revealed to carry somatic, inactivating mutations in a total of 35 (21.7%) of 161 sporadic pheochromocytomas in two independent tumor series. A majority of the tumors in both studies displayed loss of heterozygosity at the NF1 locus and a low NF1 mRNA expression. In view of previous findings that many sporadic pheochromocytomas cluster with neurofibromatosis type 1 syndrome-associated pheochromocytomas instead of forming clusters of their own, NF1 inactivation appears to be an important step in the pathogenesis of a large number of sporadic pheochromocytomas. A literature and public mutation database review has revealed that pheochromocytomas are among those human neoplasms in which somatic NF1 alterations are most frequent.

Download Full-text