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Cutaneous neurofibromas are the hallmarks of neurofibromatosis type 1 (NF1). They are composed of multiple cell types, and traditionally they are believed to arise from small nerve tributaries of the skin. A key finding in the context of this view has been that subpopulations of tumor Schwann cells harbor biallelic inactivation of the NF1 gene (NF1(-/-)). In the present study, our aim was to clarify further the pathogenesis of cutaneous neurofibromas. First, we detected cells expressing multipotency-associated biomarkers in cutaneous neurofibromas. Second, we developed a method for isolating and expanding multipotent neurofibroma-derived precursor cells (NFPs) from dissociated human cutaneous neurofibromas and used it to analyze their growth and differentiation potential. In analogy to solitary cells resident in neurofibromas, NFPs were found to express nestin and had the potential to differentiate to, at least, Schwann cells, neurons, epithelial cells, and adipocytes. Mutation analysis of the NFPs revealed that their genotype was NF1(+/-). The results led us to speculate that the development of cutaneous neurofibromas includes the recruitment of multipotent NF1(+/-) precursor cells. These cells may be derived from the multipotent cells of the hair roots, which often are intimately associated with microscopic neurofibromas.
Department of Cell Biology and Anatomy, Institute of Biomedicine, University of Turku, Turku, Finland.
This article was published in the following journal.
Name: The American journal of pathology
The growth behaviors of cutaneous neurofibromas in patients with Neurofibromatosis type 1 are highly variable. The role of the germline NF1 mutation, somatic NF1 mutation and mutations at modifying lo...
[This corrects the article DOI: 10.1371/journal.pone.0170348.].
Benign cutaneous mixed tumor (chondroid syringoma) is the cutaneous counterpart of the benign mixed tumor (pleomorphic adenoma) of salivary glands, consisting of both epithelial and mesenchymal elemen...
The incidence of cutaneous nontuberculous mycobacterial (NTM) infection has increased in recent decades due to widespread use of immunosuppressive therapy and better detection methods. The histopathol...
Mutations in the BRAF proto-oncogene occur in the majority of cutaneous melanomas. The commonly detected valine (V) to glutamate (E) mutation (V600E) is known to drive melanomagenesis and has thus bee...
This is a small study of the oral MEK1/2 inhibitor, selumetinib, to evaluate the potential utility of selumetinib in individuals ≥ 18 years old with Neurofibromatosis 1 (NF1) and cutaneo...
The purpose of this study is to determine whether multiple cutaneous neurofibromas in patients with neurofibromatosis type 1 can be removed with an erbium-YAG-laser.
The purpose of this study is to determine if imiquimod cream can reverse the growth of neurofibromas. Imiquimod is a skin cream that works by stimulating the body's immune system to respo...
The purpose of the research study is intended to use specimens (such as tissue) and medical information in the Laboratory of Musculoskeletal Oncology at the Van Andel Research Institute fo...
The purpose of this research study is to determine if ranibizumab can prevent the growth of neurofibromas. We will also be collecting extra blood and serum samples to help us learn more ab...
A parasitic hemoflagellate of the subgenus Leishmania leishmania that infects man and animals including rodents. The Leishmania mexicana complex causes both cutaneous (LEISHMANIASIS, CUTANEOUS) and diffuse cutaneous leishmaniasis (LEISHMANIASIS, DIFFUSE CUTANEOUS) and includes the subspecies amazonensis, garnhami, mexicana, pifanoi, and venezuelensis. L. m. mexicana causes chiclero ulcer, a form of cutaneous leishmaniasis (LEISHMANIASIS, CUTANEOUS) in the New World. The sandfly, Lutzomyia, appears to be the vector.
A disease caused by any of a number of species of protozoa in the genus LEISHMANIA. There are four major clinical types of this infection: cutaneous (Old and New World) (LEISHMANIASIS, CUTANEOUS), diffuse cutaneous (LEISHMANIASIS, DIFFUSE CUTANEOUS), mucocutaneous (LEISHMANIASIS, MUCOCUTANEOUS), and visceral (LEISHMANIASIS, VISCERAL).
A parasitic hemoflagellate of the subgenus Leishmania viannia that infects man and animals. It causes cutaneous (LEISHMANIASIS, CUTANEOUS), diffuse cutaneous (LEISHMANIASIS, DIFFUSE CUTANEOUS), and mucocutaneous leishmaniasis (LEISHMANIASIS, MUCOCUTANEOUS) depending on the subspecies of this organism. The sandfly, Lutzomyia, is the vector. The Leishmania braziliensis complex includes the subspecies braziliensis and peruviana. Uta, a form of cutaneous leishmaniasis in the New World, is caused by the subspecies peruviana.
Skin lesions due to abnormal infiltration of MAST CELLS. Cutaneous mastocytosis is confined to the skin without the involvement of other tissues or organs, and is mostly found in children. The three major variants are: URTICARIA PIGMENTOSA; diffuse cutaneous mastocytosis; and SOLITARY MASTOCYTOMA OF SKIN.
The most common form of cutaneous mastocytosis (MASTOCYTOSIS, CUTANEOUS) that occurs primarily in children. It is characterized by the multiple small reddish-brown pigmented pruritic macules and papules.
Anything that breaks the skin is a wound because when the skin is broken, there's a risk of germs getting into the body and causing an infection. Follow and track Wound Care News on BioPortfolio: Wound Car...
Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...