Gigantiform cementoma

Did You Know?

• The ANO5 gene, also known as TMEM16E, encodes a protein called Anoctiamin-5 involved in ion channel regulation and cell signaling.
• Gigantiform cementoma is classified as a benign fibro-osseous lesion of the jaw, containing both fibrous tissue and bone-like structures.
• Treatment involves surgical removal of the tumor, affected bone, and teeth, followed by jaw reconstruction using implants and virtual surgical planning.

Symptoms

Symptoms of gigantiform cementoma typically appear during adolescence, between ages 10 and 19, though some cases are detected later in life. The tumor grows rapidly, causing expansion of the maxilla and mandible that leads to facial deformity and malocclusion. Short-term symptoms include jaw swelling and pain. As the tumor enlarges, teeth may shift or become loose. The growth can affect the trigeminal nerve, which has three branches—ophthalmic, maxillary, and mandibular—that are involved in chewing and facial sensation. Long-term complications include persistent jaw pain, altered tooth alignment, and significant changes in facial appearance. There is a slight risk of recurrence after treatment.

Diagnosis

Individuals with symptoms suggestive of gigantiform cementoma should seek evaluation by a dentist, oral surgeon, oral pathologist, or prosthodontist. A dentist can perform an examination and take x-rays to assess symptoms and refer the patient to a specialist. Oral surgeons are trained in surgical procedures of the mouth, jaw, and face. Oral pathologists examine tissue samples to diagnose and treat jaw and mouth diseases. Prosthodontists assist with dental prosthetics for missing teeth. Diagnosis requires imaging such as a panoramic radiograph or cone beam computed tomography (CBCT) to identify the tumor and determine its size. An oral surgeon may recommend a biopsy to collect tissue for histological examination, which is necessary to confirm the diagnosis. Blood tests can also aid in confirmation.

Prognosis

The tumor progresses in three stages. It typically develops between ages 11 and 13, expands rapidly by age 16, and growth suppression occurs around ages 18 to 20. Because it is an autosomal dominant disorder, a single copy of the mutant allele can cause the condition, and both sexes can be affected, though females are more likely to develop it. Recurrence is possible, especially during skeletal growth when lesions are more cellular and biologically active, and recurrence can occur even after surgery. The tumor is benign and does not directly threaten life, but its size determines the degree of impact. Initially small and asymptomatic, it expands quickly, causing jaw swelling and tooth shifting. For young adolescents, these changes can be difficult. Due to the small number of cases, information on prognosis remains limited.

Epidemiology

Gigantiform cementoma is a rare tumor, and its epidemiology reflects that rarity, with only a handful of documented cases worldwide. Some cases are discovered incidentally during dental exams. The age range at presentation spans early childhood to early adulthood, with most cases occurring between 10 and 50 years of age and a mean of 42 years. The condition is seen more frequently in females than in males, but it can affect males as well. There is no strong link to any specific ethnicity or race. Sporadic cases are more common than familial ones, though inheritance is possible. The tumor typically affects the mandible more often than the maxilla and can involve multiple quadrants of the jaw, causing significant expansion. Recurrence rates are high because rapid tumor growth makes complete surgical removal difficult; incomplete removal leads to regrowth. Recent studies have linked the condition to mutations in the ANO5 gene.