The Salivary Microbiome and Oral Cancer Risk: a Pilot Study in Fanconi Anemia

Area of Science:

• Microbiology
• Genetics
• Oncology

Background:

• Fanconi anemia (FA) is a rare genetic disorder causing chromosomal instability and impaired DNA repair.
• FA patients have an increased risk of oral squamous cell carcinoma (OSCC), particularly post-hematopoietic stem cell transplantation (HSCT).
• The role of the oral microbiome in FA-associated OSCC is largely unexplored.

Purpose of the Study:

• To investigate the salivary microbiome composition in Fanconi anemia patients.
• To correlate oral microbiome profiles with oral health status and risk factors for OSCC in FA patients.
• To identify specific microbial signatures associated with medical history, such as HSCT and graft-versus-host disease (GVHD).

Main Methods:

• Saliva samples were collected from 61 FA patients.
• 16S rRNA gene sequencing (V3-V4 hypervariable region) was used to analyze the oral microbiome.
• Microbial profiles were statistically analyzed against clinical and medical data using general linear models.

Main Results:

• The most abundant bacterial phyla were Firmicutes and Bacteroidetes.
• A history of GVHD was associated with a higher proportion of Firmicutes.
• Poor oral hygiene, indicated by gingival bleeding, correlated with increased levels of Prevotella, Streptococcus, Porphyromonas, Treponema, Parvimonas, and Dialister.
• Patients transplanted over 11 years prior showed elevated levels of Streptococcus, Haemophilus, and Neisseria.

Conclusions:

• FA patients with poor oral hygiene harbor bacterial profiles indicative of gingival disease.
• Specific salivary microbial differences are associated with oral GVHD and prior oral mucositis in FA patients.
• These findings highlight the importance of monitoring the oral microbiome in FA patients for OSCC risk assessment.