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Nevoid Basal Cell Carcinoma Syndrome (nevoid + basal_cell_carcinoma_syndrome)

Distribution by Scientific Domains

Medical Sciences	55%
Life Sciences	22%

Selected Abstracts

Functional analysis in Drosophila indicates that the NBCCS/PTCH1 mutation G509V results in activation of smoothened through a dominant-negative mechanism

DEVELOPMENTAL DYNAMICS, Issue 4 2004
Gary R. Hime
Abstract Mutations in the human homolog of the patched gene are associated with the developmental (and cancer predisposition) condition Nevoid Basal Cell Carcinoma Syndrome (NBCCS), as well as with sporadic basal cell carcinomas. Most mutations that have been identified in the germline of NBCCS patients are truncating or frameshift mutations, with amino acid substitutions rarely found. We show that a missense mutation in the sterol-sensing domain G509V acts as a dominant negative when assayed in vivo in Drosophila. Ectopic expression of a Drosophila patched transgene, carrying the analogous mutation to G509V, causes ectopic activation of Hedgehog target genes and ectopic membrane stabilisation of Smoothened. The G509V transgene behaves in a manner similar, except in its subcellular distribution, to a C-terminal truncation that has been characterised previously as a dominant-negative protein. G509V exhibits vesicular localisation identical to the wild-type protein, but the C-terminal truncated Patched molecule is localised predominantly to the plasma membrane. This finding suggests that dominant-negative function can be conferred by interruption of different aspects of Patched protein behaviour. Another mutation at the same residue, G509R, did not exhibit dominant-negative activity, suggesting that simple removal of the glycine at 509 is not sufficient to impart dominant-negative function. Developmental Dynamics 229:780,790, 2004. © 2004 Wiley-Liss, Inc. [source]

Nevoid Basal Cell Carcinoma Syndrome in infants: improving diagnosis

CHILD: CARE, HEALTH AND DEVELOPMENT, Issue 3 2005
L. Pastorino
Abstract Background, Diagnosis of Nevoid Basal Cell Carcinoma Syndrome (NBCCS) in infants may pose significant challenges to clinicians owing to its variable expressivity and age-related manifestations. Methods, We report two paediatric cases of NBCCS who presented initially with a non-specific phenotype. Results, In case 1, a diagnosis of NBCCS was possible only after the father was interviewed and found to present with two major criteria for the disease. Subsequent molecular testing confirmed the diagnosis. In case 2, molecular testing of the infant and his father had diagnostic value as neither satisfied fully the current diagnostic criteria for NBCCS. Conclusions, Presence of the few clinical manifestations of NBCCS that appear in infants, typically congenital malformations and skeletal abnormalities, should prompt clinicians to conduct in-person interviews with both parents. In general, paediatricians should refer both parents of infants who are suspected of having an inherited condition to clinical geneticists for expert examination, given the potential unreliability of reported medical history. [source]

Immunohistochemical analysis of the biological potential of odontogenic keratocysts

JOURNAL OF ORAL PATHOLOGY & MEDICINE, Issue 2 2006
k Kolá
Background:, The aim of this study was to analyse the usefulness of detecting important apoptosis and proliferation markers in assessing the biological potential of odontogenic keratocysts (OKC) and thus selecting the optimal diagnostic algorithm for these lesions. Methods:, Indirect immunohistochemistry and relevant statistical methods were used for analysis of formalin-fixed and paraffin-embedded samples from 98 patients. Results:, Nevoid basal cell carcinoma syndrome (NBCCS) keratocysts were characterized by higher expression of Bcl-2, p27Kip1 and c-erbB-2 as well as by lower proliferative activity measured by Ki-67 in basal cell epithelium and by a lower inflammatory response in comparison with sporadic keratocysts. Dentigerous, radicular and non-specified odontogenic cysts differed from both NBCCS and sporadic keratocysts in a wide spectrum of apoptosis and/or cell cycle-related protein expressions, higher proliferation in the basal cell layer, and vice versa, lower proliferation in the suprabasal cell layer. Conclusions:, The NBCCS keratocysts have a different immunophenotype from sporadic keratocysts and both types are distinguishable from dentigerous, radicular and non-specified odontogenic cysts. These findings confirm the separate biological potential of these lesions and the results of the immunohistochemical analysis have diagnostic and prognostic implications. [source]

Treatment of basal cell carcinomas in patients with nevoid basal cell carcinoma syndrome

JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY & VENEREOLOGY, Issue 3 2009
S Van Der Geer
Abstract Background, Nevoid basal cell carcinoma syndrome (NBCCS) is characterized by the development of multiple basal cell carcinomas (BCCs). A major problem for these patients is the enormous amount of BCCs which can invade in the deep underlying structures, especially in the face. Different treatment modalities are used in these patients; surgical excision, Mohs micrographic surgery, cryotherapy, photodynamic therapy, ablative laser therapy and topical 5% imiquimod. There is no evidence based advice how to treat a NBCCS patient. Objective, To give a review of the literature about the possible treatment modalities for the multiple BCCs in NBCCS patients. Results, Literature consists mainly of case reports; no evidence based advice how to treat a NBCCS patient exists. Multiple treatments are available (surgical and non-surgical), and a lot of them can be combined. Treatment in a megasession is an option to diminish the medical and social inconvenience for the patient. Conflicts of interest None declared [source]

Nevoid basal cell carcinoma syndrome: Relation with desmoplastic medulloblastoma in infancy

CANCER, Issue 3 2003
A population-based study, review of the literature
Abstract BACKGROUND Patients with nevoid basal cell carcinoma syndrome (NBCCS) are believed to be predisposed to develop early-onset neoplasms including medulloblastomas (MB). The desmoplastic subtype of MB is associated most commonly with NBCCS. The goals of this study were to demonstrate the relation between desmoplastic MB and NBCCS and to evaluate the concomitant diagnosis of NBCCS and MB. METHODS The medical records of 76 consecutive children who received surgical treatment for MB between 1970 and 2000 were studied. A review of the literature was performed based on the National Library of Medicine database and bibliographies of selected articles were scanned. RESULTS The authors reported three patients with NBCCS who received surgical treatment for an MB during infancy. The literature review identified 33 patients with NBCCS who were treated for MB at a mean age of 28 months. The desmoplastic subtype was the only histopathologic subtype of MB reported in the NBCCS population. Although patients with NBCCS are predisposed to develop multiple basal cell carcinomas and intracranial tumors in the field of irradiation, the prognosis for syndromic MBs was much better compared with the prognosis for sporadic MBs. CONCLUSIONS Patients with NBCCS have an increased risk for other malignancies, especially radiation-induced neoplasms. Early diagnosis of this syndrome is important for the selection of appropriate adjuvant treatment and family genetic counseling. The authors did not advocate the use of radiotherapy as an adjuvant treatment in desmoplastic MB diagnosed in children younger than 5 years of age. They suggested that the desmoplastic subtype of MB in children younger than 2 years of age is a major diagnostic criterion for the diagnosis of NBCCS. Cancer 2003;98:618,24. © 2003 American Cancer Society. DOI 10.1002/cncr.11537 [source]

PTCH mutations: distribution and analyses,

HUMAN MUTATION, Issue 3 2006
Erika Lindström
Abstract Mutations in the PTCH (PTCH1) gene are the underlying cause of nevoid basal cell carcinoma syndrome (NBCCS), and are also found in many different sporadic tumors in which PTCH is thought to act as a tumor suppressor gene. To investigate the distribution pattern of these mutations in tumors and NBCCS, we analyzed 284 mutations and 48 SNPs located in the PTCH gene that were compiled from our PTCH mutation database. We found that the PTCH mutations were mainly clustered into the predicted two large extracellular loops and the large intracellular loop. The SNPs appeared to be clustered around the sterol sensing domain and the second half of the protein. The NBCCS cases and each class of tumor analyzed revealed a different distribution of the mutations in the various PTCH domains. Moreover, the types of mutations were also unique for the different groups. Finally, the PTCH gene harbors mutational hot spot residues and regions, including a slippage-sensitive sequence in the N-terminus. Hum Mutat 27(3), 215,219, 2006. © 2006 Wiley-Liss, Inc. [source]