A case of Brooke-Spiegler syndrome with a new mutation in the <i>CYLD</i>
 gene

Heinritz, Wolfram; Grunewald, Sonja; Strenge, Sibylle; Schütz, Alexander; Froster, Ursula G.; Glander, H.‐J.; Paasch, Uwe; Simon, Jan C.

doi:10.1111/j.1365-2133.2006.07142.x

Cited by 19 publications

(12 citation statements)

References 8 publications

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“…Most CYLD mutations identified in cylindromatosis are frameshift or nonsense mutations that remove all or part of the catalytic domain of CYLD (Bignell et al, 2000;Poblete-Gutie´rrez et al, 2002;Hu et al, 2003;Scheinfeld et al, 2003;Tobin et al, 2003;Bowen et al, 2005;Heinritz et al, 2006) (Figure 2). In addition, a few missense mutations have been identified, but how they affect CYLD function is unclear .…”

Section: Ikba-related Immune Deficiencymentioning

confidence: 99%

Mutations in the NF-κB signaling pathway: implications for human disease

2006

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Section: Ikba-related Immune Deficiencymentioning

confidence: 99%

Mutations in the NF-κB signaling pathway: implications for human disease

2006

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“…1,2,14,20 From the data presented by Bignell et al it may be assumed that 1 or 2 BSS patients in their series showed a mixed pattern of LOH and somatic sequence mutation in the neoplasms; however, there was no specification as to whether the tested tumors were of the same histologic type. Although the first hit, a germline mutation, has been widely studied in BSS and related lesions, the second hit, a somatic alteration, has rarely been the subject of analysis, and the spectrum of somatic mutations in different neoplasms in the same individual is virtually unknown.…”

Section: Discussionmentioning

confidence: 96%

“…2 Our search of the literature revealed 51 germline CYLD gene mutations reported to date (Fig. 2,[12][13][14][15][16][17][18][19][20][21][22][23][24][25][26][27][28] Somatic CYLD mutations have rarely been investigated. 2,[12][13][14][15][16][17][18][19][20][21][22][23][24][25][26][27][28] Somatic CYLD mutations have rarely been investigated.…”

mentioning

confidence: 99%

“…1). 1,2,14,20,29 Our goals in this study were (1) to report novel germline mutations in BSS; (2) to study various neoplasms from the same patients to identify the spectrum of secondary genetic events; (3) and to review all published mutations of the CYLD gene in BSS and related disorders (multiple familial trichoepitheliomas). 1,2,14,20,29 Our goals in this study were (1) to report novel germline mutations in BSS; (2) to study various neoplasms from the same patients to identify the spectrum of secondary genetic events; (3) and to review all published mutations of the CYLD gene in BSS and related disorders (multiple familial trichoepitheliomas).…”

mentioning

confidence: 99%

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Brooke-Spiegler Syndrome: Report of 10 Patients From 8 Families With Novel Germline Mutations

Šíma¹,

Vaněček²,

Kacerovská³

et al. 2010

Diagnostic Molecular Pathology

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Brooke-Spiegler syndrome (BSS) is an inherited autosomal dominant disease characterized by the development of multiple adnexal cutaneous neoplasms including spiradenoma, cylindroma, spiradenocylindroma, and trichoepithelioma (cribriform trichoblastoma). BSS patients have various mutations in the CYLD gene, a tumor suppressor gene located on chromosome 16q. Our search of the literature revealed 51 germline CYLD mutations reported to date. Somatic CYLD mutations have rarely been investigated. We studied 10 patients from 8 families with BSS. Analysis of germline mutations of the CYLD gene was performed using either peripheral blood or nontumorous tissue. In addition, 19 formalin-fixed paraffin-embedded tumor samples were analyzed for somatic mutations, including loss of heterozygosity studies. A total of 38 tumors were available for histopathologic review. We have identified 8 novel germline mutations, all of which consisted of substitutions, deletions, and insertions/duplications and all except one led to premature stop codons. The substitution mutation in a single case was also predicted to disrupt protein function and seems causally implicated in tumor formation. We demonstrate for the first time that somatic events, loss of heterozygosity, or sequence mutations may differ among multiple neoplasms even of the same histologic type, occurring in the same patient.

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“…Cylindromas are rare adnexal skin tumours that usually occur in the cutaneous areas of the head and neck, particularly on the scalp or face. Cylindromas are considered to be benign tumours; however, malignant transformation has been described 3 5 6…”

Section: Introductionmentioning

confidence: 99%

Benign cylindroma: a rare differential diagnosis of external ear canal tumour

et al. 2016

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Cylindromas are rare adnexal skin tumours that usually occur in the head and neck area. This article reports a case of benign cylindroma arising in the external auditory canal. A 75-year-old man presented with a 3-month history of right aural fullness; no other symptoms were reported. Ear microscopy examination revealed a skin mass on the floor of the external ear canal. Α CT scan of the skull showed a well-circumscribed soft tissue mass, with no signs of underlying cortical bone erosion. Tumour resection through an endaural approach was performed. Histological examination revealed a benign cylindroma with margins free of tumour, so that no further treatment was necessary. 8 months after surgery the patient is asymptomatic with normal findings in the ear microscopy examination. Benign cylindroma has a high recurrence rate and can undergo malignant transformation. Therefore, complete surgical removal and close follow-up are of great importance.

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A case of Brooke-Spiegler syndrome with a new mutation in the CYLD gene

Cited by 19 publications

References 8 publications

Mutations in the NF-κB signaling pathway: implications for human disease

Mutations in the NF-κB signaling pathway: implications for human disease

Brooke-Spiegler Syndrome: Report of 10 Patients From 8 Families With Novel Germline Mutations

Benign cylindroma: a rare differential diagnosis of external ear canal tumour

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