ARP-T1-associated Bazex–Dupré–Christol syndrome is an inherited basal cell cancer with ciliary defects characteristic of ciliopathies

Park, Hyun‐Sook; Papanastasi, Eirini; Blanchard, Gabriela; Chiticariu, Elena; Bachmann, Daniel; Battaglia, Giuseppe; Morice‐Picard, Fanny; Vabres, P.; Smahi, Asma; Huber, Marcel; Pich-Bavastro, Christine; Hohl, Daniel

doi:10.1038/s42003-021-02054-9

Cited by 8 publications

(5 citation statements)

References 67 publications

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“…It occurs in the second or third decade of life and is caused by mutations in the CYLD gene, located on chromosome 16q12-16q13 [ 32 , 46 ] Bazex-Dupré-Christol syndrome (BDCS). It is a dominant genetic disorder linked to chromosome Xq24-Xq27.1 caused by a gene mutation in the actin-related protein-testis 1 (ARP-T1/ACTRT1) gene, characterized by multiple BCCs, follicular atrophy on the back of the hands and feet (resembles the skin and is different from the palm-plantar pits of the NBCCS), hypohidrosis, and hypotrichosis [ 47 , 48 ] Rombo syndrome. It is a dominant hereditary disease like Bazex-Dupré-Christol syndrome, reported in a single family.…”

Section: Main Textmentioning

confidence: 99%

“…Bazex-Dupré-Christol syndrome (BDCS). It is a dominant genetic disorder linked to chromosome Xq24-Xq27.1 caused by a gene mutation in the actin-related protein-testis 1 (ARP-T1/ACTRT1) gene, characterized by multiple BCCs, follicular atrophy on the back of the hands and feet (resembles the skin and is different from the palm-plantar pits of the NBCCS), hypohidrosis, and hypotrichosis [ 47 , 48 ]…”

Section: Main Textmentioning

confidence: 99%

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Multidisciplinary approach to Gorlin-Goltz syndrome: from diagnosis to surgical treatment of jawbones

Spadari

Pulicari

Pellegrini

et al. 2022

Maxillofac Plast Reconstr Surg

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Background Gorlin syndrome, also known as Gorlin-Goltz syndrome (GGS) or basal cell nevus syndrome (BCNS) or nevoid basal cell carcinoma syndrome (NBCCS), is an autosomal dominant familial cancer syndrome. It is characterized by the presence of numerous basal cell carcinomas (BCCs), along with skeletal, ophthalmic, and neurological abnormalities. It is essential to anticipate the diagnosis by identifying the pathology through the available diagnostic tests, clinical signs, and radiological manifestations, setting up an adequate treatment plan. Main body In the first part, we searched recent databases including MEDLINE (PubMed), Embase, and the Cochrane Library by analyzing the etiopathogenesis of the disease, identifying the genetic alterations underlying them. Subsequently, we defined what are, to date, the major and minor clinical diagnostic criteria, the possible genetic tests to be performed, and the pathologies with which to perform differential diagnosis. The radiological investigations were reviewed based on the most recent literature, and in the second part, we performed a review regarding the existing jawbone protocols, treating simple enucleation, enucleation with bone curettage in association or not with topical use of cytotoxic chemicals, and “en bloc” resection followed by possible bone reconstruction, marsupialization, decompression, and cryotherapy. Conclusion To promote the most efficient and accurate management of GGS, this article summarizes the clinical features of the disease, pathogenesis, diagnostic criteria, differential diagnosis, and surgical protocols. To arrive at an early diagnosis of the syndrome, it would be advisable to perform radiographic and clinical examinations from the young age of the patient. The management of the patient with GGS requires a multidisciplinary approach ensuring an adequate quality of life and effective treatment of symptoms.

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Section: Main Textmentioning

confidence: 99%

Section: Main Textmentioning

confidence: 99%

Multidisciplinary approach to Gorlin-Goltz syndrome: from diagnosis to surgical treatment of jawbones

Spadari

Pulicari

Pellegrini

et al. 2022

Maxillofac Plast Reconstr Surg

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“…Germline inactivation of one copy of the Hh receptor Patched 1 (PTCH1) gene [36] and, more rarely, of PTCH2 [37], or of Suppressor of Fused (SUFU) [38], followed by the somatic loss of the second allele results in Gorlin syndrome [12] that are frequently observed in BCC patients. Furthermore, UV-induced mutations of genes encoding for Hh pathway components were identified in about 85% of sporadic BCCs [33,[39][40][41][42][43][44]. Based on this evidence, the Hh pathway has become a major target for molecular therapies aimed to inhibit BBC growth, mainly through the inactivation of the Hh effector SMO (i.e., vismodegib, sonidegib, patidegib, and itraconazole) [45].…”

Section: Mutational Patternmentioning

confidence: 99%

Multiple Basal Cell Carcinomas in Immunocompetent Patients

Savoia

Veronese

Camillo

et al. 2022

Cancers

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Background: The onset of multiple BCCs is a relatively common condition, not only among patients undergoing chronic treatment with immunosuppressant drugs, but also in the general population, although specific risk factors for immunocompetent patients have not been identified. A putative role of somatic mutations in the hedgehog pathway should be considered. Methods: This study is a retrospective observation of all patients diagnosed and surgically treated for BCCs during 5 years at our Dermatological Division. For these patients, we evaluated clinical and histopathological characteristics and data about possible risk factors for BCC. Results: Five-hundred and six patients affected by multiple BCCs, accounting for the 24.2% of the entire sample, have been identified. In these patients, the total number of BCCs was 1516, ranging from 2 to 11. Subjects affected by multiple BCCs were more frequently males, with an older age at diagnosis; multiple BCCs developed mainly on the trunk and were often represented by a nodular histotype. The multivariate analysis highlighted that male gender, older age, nodular BCC, or face involvement at the first diagnosis are risk factors for the development of multiple BCCs. Conclusions: The frequency of multiple BCCs even among the non-immunocompromised population underlines the need to subject patients to a close surveillance program, to allow early diagnosis and treatment of additional cancers.

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“…It has been reported that primary cilia are not formed in many types of malignant tumors to dampen cilia-related signal transduction ( Seeley et al, 2009 ; Hassounah et al, 2013 ; Nobutani et al, 2014 ; Liu et al, 2019 ). However, certain types of medulloblastoma, gastrointestinal stromal tumor, and basal cell carcinoma retain the primary cilia, which transduce signals such as Hedgehog and Wnt to contribute to the malignancy ( Hassounah et al, 2012 ; Castiella et al, 2013 ; Park et al, 2021 ; Marino, 2022 ; Youn et al, 2022 ). Thus, whether primary cilia promote or suppress the progression of carcinoma is an important but difficult question in the field of oncology.…”

Section: Introductionmentioning

confidence: 99%

Cholesterol in the ciliary membrane as a therapeutic target against cancer

Kimura

Morita²,

Hosoba³

et al. 2023

Front. Mol. Biosci.

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Primary cilium is a non-motile, antenna-like structure that develops in the quiescent G0 phase-cell surface. It is composed of an array of axonemal microtubules polymerized from the centrosome/basal body. The plasma membrane surrounding the primary cilium, which is called the ciliary membrane, contains a variety of receptors and ion channels, through which the cell receives extracellular chemical and physical stimuli to initiate signal transduction. In general, primary cilia disappear when cells receive the proliferative signals to re-enter the cell cycle. Primary cilia thus cannot be identified in many malignant and proliferative tumors. In contrast, some cancers, including basal cell carcinoma, medulloblastoma, gastrointestinal stromal tumor, and other malignancies, retain their primary cilia. Importantly, it has been reported that the primary cilia-mediated oncogenic signals of Hedgehog, Wnt, and Aurora kinase A are involved in the tumorigenesis and tumor progression of basal cell carcinoma and some types of medulloblastoma. It has also been demonstrated that cholesterol is significantly more enriched in the ciliary membrane than in the rest of the plasma membrane to ensure Sonic hedgehog signaling. A series of epidemiological studies on statin drugs (cholesterol-lowering medication) demonstrated that they prevent recurrence in a wide range of cancers. Taken together, ciliary cholesterol could be a potential therapeutic target in primary cilia-dependent progressive cancers.

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ARP-T1-associated Bazex–Dupré–Christol syndrome is an inherited basal cell cancer with ciliary defects characteristic of ciliopathies

Cited by 8 publications

References 67 publications

Multidisciplinary approach to Gorlin-Goltz syndrome: from diagnosis to surgical treatment of jawbones

Multidisciplinary approach to Gorlin-Goltz syndrome: from diagnosis to surgical treatment of jawbones

Multiple Basal Cell Carcinomas in Immunocompetent Patients

Cholesterol in the ciliary membrane as a therapeutic target against cancer

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