High Incidence of Head and Neck Squamous Cell Carcinoma in Patients With Fanconi Anemia

Kutler, David I.; Auerbach, Arleen D.; Satagopan, Jaya M.; Giampietro, Philip F.; Batish, Sat Dev; Huvos, Andrew G.; Goberdhan, Andy; Shah, Jatin P.; Singh, Bhuvanesh

doi:10.1001/archotol.129.1.106

Cited by 305 publications

(334 citation statements)

References 32 publications

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“…Furthermore, despite the mild course of her disease, the patient experienced two different episodes of malignancy (esophageal carcinoma and gingival in situ carcinoma), thus underlining the high propensity of cancer development in such patients [6]. As in the present case, malignancy recurrence in FA patients is often a significant issue as shown in the prospective study by Kutler et al, who found that among the 19 FA patients who developed SCC, 10 (53%) developed locoregional recurrences within a median of 16 months after diagnosis [11]. In this patient, recurrence occurred 26 months after the first gingival SCC diagnosis.…”

Section: Discussionsupporting

confidence: 59%

Localized gingival erythroleukoplakia in a 57-year-old Fanconi anemia patient: a case report

Moreau

Renoux

Mignerey³

et al. 2017

Med Buccale Chir Buccale

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--Fanconi anemia is an extremely rare genetic disorder that has several modes of presentations, and it can lead to multiple hematological malignancies and malignant solid tumors, especially squamous cell carcinoma. Erythroleukoplakia is a rare oral mucosal disorder, associated with a high risk of malignant transformation. We report a rare case of localized gingival erythroleukoplakia in a 57-year-old female patient with Fanconi anemia that eventually revealed to be gingival in situ squamous cell carcinoma. Early surgical excision was performed but two local recurrences occurred. Early treatment of the recurrences allowed for adequate management of the oral malignancy. The present case aims to underline the need for thorough clinical examination and regular follow-up sessions in the early detection of premalignant and malignant conditions, especially in patients with diseases predisposing to oral cancer.

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Section: Discussionsupporting

confidence: 59%

Localized gingival erythroleukoplakia in a 57-year-old Fanconi anemia patient: a case report

Moreau

Renoux

Mignerey³

et al. 2017

Med Buccale Chir Buccale

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“…FA patients who are homozygous for mutation of a FA gene have a systemic DNA repair defect that results in a low tolerance for DNA-damaging chemotherapeutic agents. Accordingly chemotherapeutic agents are often given at low dosage or are avoided in favor of surgical approaches (Kutler et al 2003a). The situation, however, is different for cancer patients who carry a heterozygous mutation in a FA gene.…”

Section: The Fa Pathway and Cancer Treatmentmentioning

confidence: 99%

The Fanconi Anemia/BRCA pathway: new faces in the crowd

Kennedy¹,

D’Andrea²

2005

Genes Dev.

362

345

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Over the past few years, study of the rare inherited chromosome instability disorder, Fanconi Anemia (FA), has uncovered a novel DNA damage response pathway. Through the cooperation of multiple proteins, this pathway regulates a complicated cellular response to DNA cross-linking agents and other genotoxic stresses. In this article we review recent data identifying new components of the FA pathway that implicate it in several aspects of the DNA damage response, including the direct processing of DNA, translesion synthesis, homologous recombination, and cell cycle regulation. We also discuss new findings that explain how the FA pathway is regulated through the processes of ubiquitination and deubiquitination. We then consider the clinical implications of our current understanding of the FA pathway, particularly in the development and treatment of malignancy in heterozygous carriers of FA mutations or in patients with sporadic cancers. We consider how recent studies of p53-mediated apoptosis and loss of p53 function in models of FA may help explain the clinical features of the disease and finally present a hypothesis to account for the specificity of the FA pathway in the response to DNA cross-links.

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“…These patients, who inherit recessive autosomal mutations in genes regulating DNA recognition and repair, show an increased risk of bone marrow failure, leukemia, and solid tumors including OSCC. Fanconi anemia patients have a 500-to 700-fold increased risk of OSCC formation [23][24][25][26]. Increased risk of OSCC has also been reported in individuals inheriting functionally inactivating mutations in the CDKN2A gene.…”

Section: Etiology and Risk Factorsmentioning

confidence: 99%

Molecular mechanisms of head and neck cancer

Deshpande

Wong²

2008

Expert Review of Anticancer Therapy

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Background-With a global incidence rank of eight and a significant portion of head and neck malignancies (~90%), oral squamous cell carcinoma (OSCC) poses a major health risk and is one of the leading cause of mortality in developing nations [1]. Distribution of the incidence of OSCC varies across the world with south-central Asia and Africa leading, followed by eastern and central Europe, and to a lesser extent Australia, Japan, and the United States. Over the past few years there has been a drastic increase in the incidence of oral cancer in most parts of the world [2]. In the United States alone, with about 17 new cases/100,000, oral cancer is the fifth most common and sixth leading cause of cancer-related mortality per year [3].While men tend to have a higher incidence of OSCC (6.6/100,000) compared to women (2.9/100,000), there is an equal mortality rate between the sexes (50%).

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High Incidence of Head and Neck Squamous Cell Carcinoma in Patients With Fanconi Anemia

Cited by 305 publications

References 32 publications

Localized gingival erythroleukoplakia in a 57-year-old Fanconi anemia patient: a case report

Localized gingival erythroleukoplakia in a 57-year-old Fanconi anemia patient: a case report

The Fanconi Anemia/BRCA pathway: new faces in the crowd

Molecular mechanisms of head and neck cancer

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