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1.
Br J Oral Maxillofac Surg ; 62(2): 118-127, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-38296711

RESUMEN

Proliferative verrucous leukoplakia (PVL) is a rare oral potentially malignant disorder characterised by multifocal origin and unpredictable long-term evolution to oral squamous cell carcinoma (OSCC) or oral verrucous carcinoma (OVC). Currently no predictive biomarkers are in clinical use. We aimed to explore the genomic profile of PVL. A total of 685 cases in 26 studies were included in this review. Genomic data were presented in 15% of studies and biomarker analysis was reported in 85% of studies. At first clinical presentation, PVL is characterised by a high loss of heterozygosity (LOH), similar to OSCC, and low copy number alterations (CNA). As these progress, more CNAs and mutations in CDKN2A and alterations to ELAVL1 expression are noted, but no TP53 mutations are identified. There is significantly lower LOH at 17p in early PVL compared with OSCC (p = 0.037). Deletions in chromosomal loci 17q12, 5q31.1 and amplifications in 7q11.2, 7q22 are shared between early lesions and OVC. PVL shows CNAs at 11q31. WNT signalling pathway genes (SUZ12, CTTN and FOLR3) are enriched in CN-altered regions. PVL stroma shows significantly lower α-SMA and higher CD34 expression than OVC and OSCC. The exact genomic landscape is currently unclear, and further studies are necessary to unravel this mystery.


Asunto(s)
Carcinoma de Células Escamosas , Carcinoma Verrugoso , Neoplasias de Cabeza y Cuello , Neoplasias de la Boca , Humanos , Neoplasias de la Boca/genética , Carcinoma de Células Escamosas/genética , Leucoplasia Bucal/genética , Carcinoma de Células Escamosas de Cabeza y Cuello , Carcinoma Verrugoso/genética
2.
Head Neck Pathol ; 10(3): 327-31, 2016 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-26897633

RESUMEN

Syphilis was the first sexually transmitted disease to be diagnosed in childhood. Most developed countries controlled syphilis effectively after the 1950s and congenital syphilis became rare. Since the late 1990s there has been a resurgence of syphilis in developed and developing countries and the WHO estimates that at least half a million infants die of congenital syphilis every year. The earliest reference to the dental manifestations of congenital syphilis was by Sir Jonathan Hutchinson, Assistant Surgeon at The London Hospital in 1861. Three main dental defects are described in congenital syphilis; Hutchinson's incisors, Moon's molars or bud molars, and Fournier's molars or mulberry molars. Although many physicians, dentists, and pathologists in developed countries will be aware of the dental features of syphilis, most will never have seen a case or made the diagnosis. The purpose of this article is to review some of the history of congenital syphilis, remind healthcare professionals of the features, and bring to their attention that the changes are still prevalent and that milder cases can be mistaken for other causes of hypoplasia.


Asunto(s)
Sífilis Congénita/historia , Niño , Preescolar , Femenino , Historia del Siglo XV , Historia del Siglo XVI , Historia del Siglo XVII , Historia del Siglo XVIII , Historia del Siglo XIX , Historia del Siglo XX , Historia del Siglo XXI , Humanos , Lactante , Recién Nacido , Masculino , Sífilis Congénita/diagnóstico , Sífilis Congénita/patología
3.
Head Neck Pathol ; 9(3): 412-6, 2015 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-25480329

RESUMEN

Primary carcinoma of the parotid duct (Stensen's duct carcinoma) is a rare entity, first described in 1927 and with approximately thirty-one cases reported in the English literature. Criteria for diagnosis are primarily demonstration of an origin from the Stensen's duct lining and exclusion of parotid gland, accessory parotid, oral mucosal and adjacent minor salivary gland origin. The carcinoma is usually of a specific type, and most have been described as squamous, mucoepidermoid, or undifferentiated adenocarcinomas. We report an unusual case of Stensen's duct carcinoma showing a primarily basaloid phenotype with focal squamous differentiation and a partial papillary architecture raising the possibility of malignant transformation in a ductal papilloma. Wide local excision was performed with postoperative radiotherapy and the patient is free of complications one and a half years postoperatively. Due to the small number of cases reported, the overall prognosis is not well defined, but seems to depend on the tumour size. Regional metastasis confers a 14 % mortality rate but there appears to be no relationship between histological type and prognosis.


Asunto(s)
Carcinoma Ductal/patología , Papiloma/patología , Neoplasias de la Parótida/patología , Conductos Salivales/patología , Anciano , Femenino , Humanos
4.
Expert Rev Mol Diagn ; 11(2): 145-7, 2011 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-21405965

RESUMEN

Evaluation of: Eckert AW, Schutze A, Lautner MHW, Taubert H, Schubert J, Bilkenroth U. HIF-1α is a prognostic marker in OSCC. Int. J. Biol. Markers 25(2), 87-92 (2010). Oral squamous cell carcinoma is the most common cancer in the oral cavity, accounting for 95% of all malignancies. Predicting prognosis and survival of oral cancer patients has been challenging. To date, there are no molecular markers that can be used reliably in routine clinical practice, other than clinical and histological parameters. Numerous molecules have been tested in order to achieve the above objective. Hypoxia-inducible factor (HIF)-1α is a molecule that is mainly activated under hypoxic conditions. According to the article under evaluation, tumors negatively or weakly expressing HIF-1α had a 5-year disease-specific survival of 80% or more, whereas the disease-specific survival in cases with moderate or strong HIF-1α expression was only 49.4 and 33.6%, respectively. The mean disease-specific survival time was 54 months for patients whose tumors showed negative or weak HIF-1α expression, whereas patients with moderate or strong HIF-1α expression survived on average only 38 months (p = 0.001). HIF-1α may have a role to play in diagnostic and clinical practice to predict prognosis of oral cancer, provided the findings are confirmed by more reliable investigations in addition to immunohistochemistry analysis.

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