Squamous cell carcinoma of the tongue in a patient with dyskeratosis congenita: a rare entity

Fatehi, Khuzema Saifuddin; Thiagarajan, Shivakumar; Dhar, Harsh; Chaukar, Devendra A; D'Cruz, AK

doi:10.1016/j.bjoms.2018.12.002

Cited by 7 publications

(4 citation statements)

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“…We found a total of 12 other case reports of patients with DC and SCC of the head and neck, excluding cutaneous malignancies. [5][6][7][8][9][10][11][12][13][14][15][16] To our knowledge, this is the largest systematic review of this patient population. Of note, most of the cases involved SCC of the tongue; this is the only case that reports on sequential osteocutaneous free tissue transfers.…”

Section: Discussionmentioning

confidence: 99%

Dyskeratosis Congenita and Squamous Cell Cancer of the Head and Neck: A Case Report and Systematic Review

Liu

Deane

Prisman

et al. 2021

Ann Otol Rhinol Laryngol

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Objectives: Dyskeratosis congenita (DC) is a progressive congenital disorder that predisposes patients to squamous cell cancers (SCC) of the head and neck. We report a case of a patient who underwent primary osteocutaneous free flap for mandibular SCC followed by additional treatments for positive margins and discuss a systematic review on therapeutic management for this patient population. Methods: Case report of a 39-year-old male with DC who underwent resection and reconstruction with a fibular free flap for mandible SCC, followed by revision surgery and adjuvant radiotherapy for positive margins. A systematic review was completed afterward with the following terms: “dyskeratosis congenita” AND “oral cancer” OR “head and neck” OR “otolaryngology” on Medline and Web of Science for articles between 1980 and 2021. In total, 12 articles were included that reported on DC and SCC in the head and neck. Results: Of the case reports that were included in this review, half the patients had recurrence within 1 year of primary treatments. Only 2 patients did not require revision surgery, adjuvant, or salvage therapy. Half of patients that received radiation therapy had severe side effects. Conclusions: This is the largest review of DC and SCC in the head and neck. Based off our case report and review, these patients have aggressive disease that often requires multi-modality treatment. Consideration should be taken in regards to reports of side effects with radiation therapy.

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Section: Discussionmentioning

confidence: 99%

Dyskeratosis Congenita and Squamous Cell Cancer of the Head and Neck: A Case Report and Systematic Review

Liu

Deane

Prisman

et al. 2021

Ann Otol Rhinol Laryngol

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“…Dyskeratosis congenita (DC) is a rare, inherited bone marrow failure syndrome, [1][2][3] and there are 3 inheritance modes: X-linked recessive, autosomal dominant, and autosomal recessive. 4 It is characterized by 3 features: nail dystrophy, reticular skin pigmentation, and oral leukoplakia.…”

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confidence: 99%

“…4 It is characterized by 3 features: nail dystrophy, reticular skin pigmentation, and oral leukoplakia. 1,5,6 Leukoplakia is usually oral, but sometimes conjunctival, urethral, genital, or intestinal. 5,7 Oral leukoplakia in patients with DC has a high risk of malignant transformation.…”

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confidence: 99%

“…9 In recent systematic review and meta-analysis, the malignant transformation rate of oral leukoplakia was 9.5%, 9 whereas approximately 30% of the leukoplakic areas progress to malignant transformation with the development of SCC in 10 to 50 years. 1,2,4-8,10 The most common site of oral SCC is the tongue, 1-3,5-7,10 followed by the buccal mucosa. 3 Therefore, frequent monitoring and biopsy of suspicious areas to detect possible oral cancer are necessary.…”

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Malignant Transformation of Buccal Mucosa Leukoplakia in a Patient With Dyskeratosis Congenita

et al. 2020

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MicroRNA-27a promotes tumorigenesis in tongue squamous cell carcinoma by enhancing proliferation, migration and suppressing apoptosis

Chen

Zhang

Chen

et al. 2021

Eur Arch Otorhinolaryngol

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Squamous cell carcinoma of the tongue in a patient with dyskeratosis congenita: a rare entity

Cited by 7 publications

References 4 publications

Dyskeratosis Congenita and Squamous Cell Cancer of the Head and Neck: A Case Report and Systematic Review

Dyskeratosis Congenita and Squamous Cell Cancer of the Head and Neck: A Case Report and Systematic Review

Malignant Transformation of Buccal Mucosa Leukoplakia in a Patient With Dyskeratosis Congenita

MicroRNA-27a promotes tumorigenesis in tongue squamous cell carcinoma by enhancing proliferation, migration and suppressing apoptosis

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