Oral and oesophageal squamous cell carcinoma – A complication or component of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED, APS-I)

Rautemaa, Riina; Hietanen, Jarkko; Niissalo, Sirkku; Pirinen, Sinikka; Perheentupa, Jaakko

doi:10.1016/j.oraloncology.2006.07.005

Cited by 141 publications

(111 citation statements)

References 27 publications

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“…Of all the APECED patients in Finland that are beyond the age of 25, 10% have developed oral or oesophageal carcinoma at the site of chronic mucositis. 5 It is the only malignancy diagnosed in these patients. The age at cancer diagnosis was markedly low (29-44 years), significantly lower than for oral or oesophageal squamous cell carcinoma in general.…”

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confidence: 97%

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Chronic candidosis and oral cancer in APECED‐patients: Production of carcinogenic acetaldehyde from glucose and ethanol by Candida albicans

Uittamo

Siikala

Kaihovaara

et al. 2008

Intl Journal of Cancer

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confidence: 97%

“…26 In APECED patients, however, the mean age at diagnosis is only 37 years. 5 The early onset of oral cancer in APECED patients could be partially due to their immune defect and other intrinsic factors. However, both extrinsic and intrinsic factors may operate, and with many of the factors, only long exposure might be carcinogenic.…”

mentioning

confidence: 99%

Chronic candidosis and oral cancer in APECED‐patients: Production of carcinogenic acetaldehyde from glucose and ethanol by Candida albicans

Uittamo

Siikala

Kaihovaara

et al. 2008

Intl Journal of Cancer

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“…Ryan et al ont montré une hyperactivité des cellules dendritiques immatures pouvant jouer un rôle dans le développement des candidoses cutanéo-muqueuses chroniques [14]. Cette forme chronique a des aspects de leucoplasie et pourrait parfois se transformer en carcinome épidermoïde [14][15][16]. Dans les différentes études, le diagnostic de candidose orale n'était pas fait sur biopsie mais sur prélèvement des lésions par frottis ou par bain de bouche.…”

Section: Discussionunclassified

“…La fréquence est de 10 % avec un âge moyen de 35 ans dans certaines séries [16]. Le jeune âge et la fréquence élevée des carcinomes épider-moïdes suggèrent un lien avec le syndrome APECED qui pourrait être la présence de lésions de lichénoïdes.…”

Section: Discussionunclassified

Syndrome APECED et lichen plan atrophique : un cas

Regnault

Catros

Sibaud

et al. 2016

Med Buccale Chir Buccale

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-Introduction:Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is an autosomal recessive disease defined by two of the following conditions: hypoparathyroidism, adrenocortical failure and chronic mucocutaneous candidiasis. Other autoimmune disorders may be associated with it. Chronic candidiasis is usually the first and most common aspect of the syndrome. Case report: We report the case of a 19-year-old man whose clinical manifestations of APECED comprised adrenocortical failure, keratopathy and alopecia. Chronic candidiasis was previously clinically suspected, but never demonstrated with mucocutaneous scraping and cultures. APECED status was confirmed after identification of a mutation in the AIRE gene. In the oral mucosa, atrophic and erosive lesions were observed, which were compatible with oral lichen planus. This was histologically confirmed. Discussion: The finding of oral lichen planus in an APECED patient is unusual, and it poses the question of the occurrence of misdiagnosis of candidiasis in some cases of APECED, which could be due to the lack of histological examinations of these lesions. Conclusion: Dentists should be aware of this dystrophy, as oral manifestations are not specific but can be related to more common oral diseases such as oral lichen planus or candidiasis.

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“…Notably, AIRE-and STAT1-mutant CMC patients are susceptible to developing oral, esophageal, and stomach carcinomas. [59][60][61][62] APECED is a rare disease but is more prevalent among some populations, such as Finns (1/25 000), Sardinians (1/14 400), and Iranian Jews (1/9000). [63][64][65] More than 60 AIRE mutations have been reported in APECED.…”

Section: Aire and Apeced/chronic Mucocutaneous Candidiasis (Cmc)mentioning

confidence: 99%

Integrity of IKK/NF‐κB Shields Thymic Stroma That Suppresses Susceptibility to Autoimmunity, Fungal Infection, and Carcinogenesis

Zhu

2018

BioEssays

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A pathogenic connection between autoreactive T cells, fungal infection, and carcinogenesis has been demonstrated in studies of human autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) as well as in a mouse model in which kinase-dead Ikkα knock-in mice develop impaired central tolerance, autoreactive T cell-mediated autoimmunity, chronic fungal infection, and esophageal squamous cell carcinoma, which recapitulates APECED. IkB kinase α (IKKα) is one subunit of the IKK complex required for NF-kB activation. IKK/NF-kB is essential for central tolerance establishment by regulating the development of medullary thymic epithelial cells (mTECs) that facilitate the deletion of autoreactive T cells in the thymus. In this review, we extensively discuss the pathogenic roles of inborn errors in the IKK/NF-kB loci in the phenotypically related diseases APECED, immune deficiency syndrome, and severe combined immunodeficiency; differentiate how IKK/NF-kB components, through mTEC (stroma), T cells/leukocytes, or epithelial cells, contribute to the pathogenesis of infectious diseases, autoimmunity, and cancer; and highlight the medical significance of IKK/NF-kB in these diseases.

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Oral and oesophageal squamous cell carcinoma – A complication or component of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED, APS-I)

Cited by 141 publications

References 27 publications

Chronic candidosis and oral cancer in APECED‐patients: Production of carcinogenic acetaldehyde from glucose and ethanol by Candida albicans

Chronic candidosis and oral cancer in APECED‐patients: Production of carcinogenic acetaldehyde from glucose and ethanol by Candida albicans

Syndrome APECED et lichen plan atrophique : un cas

Integrity of IKK/NF‐κB Shields Thymic Stroma That Suppresses Susceptibility to Autoimmunity, Fungal Infection, and Carcinogenesis

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