Life History of Organoid Nevi

Mehregan, Amir H.

doi:10.1001/archderm.1965.01600120006002

Cited by 331 publications

(125 citation statements)

References 20 publications

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“…Furthermore, TEs and cylindromas often coexist in patients with the tumor predisposition syndrome hereditary multiple epithelioma (MIM 132700) (37,38). TE and BCC occur in the multiple familial TE syndrome (MIM 60͞606), and trichoblastoma and BCC often develop within a congenital malformation called sebaceous nevus, in which deletions in the PTCH1 gene region were recently reported (39)(40)(41). A link to constitutive activation of the SHH-PTCH1 signaling pathway is clear for BCCs and TEs displaying both PTCH1 mutations and consistent up-regulation of PTCH1 mRNA in familial as well as sporadic tumors (5,31).…”

Section: Discussionmentioning

confidence: 99%

Induction of basal cell carcinomas and trichoepitheliomas in mice overexpressing GLI-1

Nilsson

Undén²,

Krause³

et al. 2000

Proceedings of the National Academy of Sciences

241

146

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Basal cell carcinoma is the most prevalent cancer in the western world, showing a rapid increase in incidence. Activation of the Sonic hedgehog͞Patched (PTCH) signaling pathway because of PTCH1 inactivation is a key event in sporadic and familial basal cell carcinoma development in humans and is associated with transcriptional activation of specific target genes, including PTCH1 itself. These changes are analogous to the situation in Drosophila where hedgehog activates the zinc-finger transcription factor Cubitus interruptus, leading to increased transcription of target genes. In the present study, we show that mice ectopically expressing the human Cubitus interruptus homolog GLI-1 in the skin develop tumors closely resembling human BCCs as well as other hair follicle-derived neoplasias, such as trichoepitheliomas, cylindromas, and trichoblastomas. Furthermore, examination of the tumors revealed wild-type p53 and Ha ras genes. These findings firmly establish that increased GLI-1 expression is central and probably sufficient for tumor development and suggest that GLI-1-induced tumor development does not depend on additional p53 or Ha ras mutations.G enetic studies on patients with nevoid basal cell carcinoma syndrome (NBCCS), which predisposes affected individuals to the development of multiple basal cell carcinomas (BCCs), have led to the identification of inactivating mutations in the human homolog of the Drosophila gene patched (PTCH1) as the defect underlying this syndrome (1, 2). In addition, a number of surveys have provided evidence that mutations in the PTCH1 locus is a significant cause of sporadic BCCs as well as other hair follicle-derived neoplasias such as trichoepitheliomas (TEs) (3-5). The other common genetic alteration in BCCs is a mutation in the tumor-suppressor gene p53 (6).In biochemical assays, Ptch1 has been shown to bind the ligand Sonic hedgehog (Shh) (7,8). Ptch1 is a transmembrane protein that together with Smoothened (Smoh), a seven-transmembrane protein, forms a receptor complex for Shh (9, 10). Ligand binding results in derepression of signaling from Smoh and subsequently to activation of the transcription factor Gli, the mammalian homolog to Drosophila Cubitus interruptus (Ci). Three Ci homologs have been identified in mammals, Gli-1, Gli-2, and Gli-3, which share a highly conserved zinc-finger domain with Ci and are believed to function as the most downstream components in the vertebrate Sonic hedgehogPatched signaling pathway (11,12). The precise roles played by the three Gli genes have not yet been fully defined. GLI-1 was originally isolated as an amplified gene in a glioma and can transform primary rat cells in cooperation with adenovirus E1A (13). Several lines of evidence suggest a role for Gli-1 in mediating the Shh signal: first, Gli-1 is expressed in cells that are responsive to Shh (14,15). Second, elevated Gli-1 expression is observed in Shh-treated cells, and third, ectopic expression of Gli-1 in the dorsal midbrain and hindbrain mimics the effects of ectopically expres...

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Section: Discussionmentioning

confidence: 99%

Induction of basal cell carcinomas and trichoepitheliomas in mice overexpressing GLI-1

Nilsson

Undén²,

Krause³

et al. 2000

Proceedings of the National Academy of Sciences

241

146

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“…4 The nevus sebaceous itself may reflect abnormal ectodermal development at a later stage of embryonic life. 35 Mesenchymal cells displaced during closure of the facial fissure may be responsible for differentiation into cartilage and bone.236 SUMMARY We have reported 5 cases of the organoid nevus syndrome and have reviewed the literature on the subject. We have emphasized the characteristic ocular findings of the syndrome, including epibulbar choristoma and diffuse light-colored areas in the posterior fundus.…”

Section: Pathogenesismentioning

confidence: 99%

Ophthalmic features of the organoid nevus syndrome

Shields

Eagle

et al. 1997

American Journal of Ophthalmology

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Background/Purpose: The organoid nevus (sebaceous nevus) syndrome is characterized primarily by cutaneous sebaceous nevus, seizures, and epibulbar choristomas. On the basis of ophthalmoscopic and computed tomographic studies, a yellow fundus lesion recently observed in this syndrome has been called a coloboma by some investigators and a choroidal osteoma by others. This study was undertaken to review our personal experience with the organoid nevus syndrome, to review the English language literature on the subject, and to address some misconceptions regarding its ocular manifestations.

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“…During puberty, they usually enlarge and become elevated, verrucous, or nodular and may appear brown (1,2). In late childhood and adulthood, there is a significant risk of developing a secondary tumor, the most common of which are syringocystadenoma papilliferum and basal cell carcinoma (1,3).…”

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confidence: 99%

“…In late childhood and adulthood, there is a significant risk of developing a secondary tumor, the most common of which are syringocystadenoma papilliferum and basal cell carcinoma (1,3). Myriad other cutaneous appendageal neoplasms have also been reported to arise within NSJ.…”

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confidence: 99%

The Role of Androgen Receptors in the Clinical Course of Nevus Sebaceus of Jadassohn

2001

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Nevus sebaceus of Jadassohn (NSJ) is a benign, congenital hamartoma that often presents at birth, appears to regress in childhood, and grows during puberty, suggesting possible hormonal control. We studied 18 cases of NSJ from children and adults for immunohistochemical evidence of androgen receptor expression. The lesions were evaluated for location and pattern of immunostaining, and these findings were compared between age groups, sexes, and to androgen receptor expression in normal skin. Androgen receptor positivity was seen in the sebaceous glands, in eccrine glands with and without apocrine change, and rarely in keratinocytes in the sebaceous nevi. There were no significant differences in staining location or pattern between the age groups or sexes. Normal skin showed similar staining in the sebaceous glands but did not show staining of the eccrine glands or keratinocytes. Androgen receptors are present in all epithelial components of NSJ, but there is no change in androgen receptor expression during puberty.

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Life History of Organoid Nevi

Cited by 331 publications

References 20 publications

Induction of basal cell carcinomas and trichoepitheliomas in mice overexpressing GLI-1

Induction of basal cell carcinomas and trichoepitheliomas in mice overexpressing GLI-1

Ophthalmic features of the organoid nevus syndrome

The Role of Androgen Receptors in the Clinical Course of Nevus Sebaceus of Jadassohn

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