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

Liu, Alice; Deane, Emily C.; Prisman, Eitan; Durham, J.S.

doi:10.1177/00034894211047470

Cited by 4 publications

(3 citation statements)

References 24 publications

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“… 2 , 10 As the most common dental finding, oral leukoplakia is associated with an increased risk of head and neck squamous cell carcinoma (HNSCC) (primarily tongue) and approximately 30% of oral leukoplakia can be transformed to carcinoma. 11 , 12 It is investigated that erosive oral leukoplakia and carcinoma develop about 20–30 years of age. 12 In general, DC-affected individuals have 100-fold higher risk for developing HNSCC and anogenital SCC compared with general population.…”

Section: Discussionmentioning

confidence: 99%

“… 11 , 12 It is investigated that erosive oral leukoplakia and carcinoma develop about 20–30 years of age. 12 In general, DC-affected individuals have 100-fold higher risk for developing HNSCC and anogenital SCC compared with general population. 13 Significant cancers in DC are HNSCC, acute myeloid leukemia, non-Hodgkin lymphoma and anogenital SCC.…”

Section: Discussionmentioning

confidence: 99%

“…Moreover, he suffered from trachoma, pulmonary fungal infection and abnormal liver function and macrocytic anemia. His complete blood count included a red-blood-cell count (RBC) of 3.29×10 12 /L, hemoglobin level of 113 g/L, mean corpuscular volume of 105.3fL, and platelet count of 166×10 9 /L. Physical examination revealed a poor health, reticulate hyperpigmented macules of the face, neck and upper trunk (Figure 3B), atrophic hypopigmented spots on the back of hands (Figure 3C), nail dystrophy (Figure 3C and D) and partial loss of the tip of the tongue (Figure 3E).…”

Section: Patients and Methods Patientsmentioning

confidence: 99%

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A Novel Variant and a Missense Variant Identified in the DKC1 Gene in Three Chinese Familieswith Dyskeratosis Congenita

Yuan¹,

Deng²,

Yang³

et al. 2022

CCID

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Purpose Dyskeratosis congenita (DC) is an inherited telomere biology disorder characterized clinically by mucocutaneous triad of reticulate hyperpigmentation, nail changes and oral leukoplakia. Bone marrow failure, pulmonary fibrosis and malignancies are the mainly life-threatening causes. There are X-linked recessive, autosomal dominant and autosomal recessive patterns of DC. DKC1 is the most common pathogenic mutation gene responsible for X-linked DC, and it encodes a protein, dyskerin, which is a component of telomerase holoenzyme complex essential for telomere maintenance. Patients with DC have very short telomeres, but the precise pathogenic mechanism remains unclear. This study aimed to identify the causative mutations in the DKC1 gene in three Chinese families with the X-linked form of DC. Patients and Methods Three Chinese families with DC were included in this study. Whole exome sequencing and Sanger sequencing were performed to clarify the mutation of DKC1 gene. Measurement of relative telomere length through qPCR. Predictions of protein structure and function were performed using bioinformatics tools, including I-TASSER, Polyphen-2 and SIFT. Results There were four males with DC and a female carrier in three Chinese pedigrees. The novel mutation c.92A>C (p. Q31P) and the missense mutation c.1058C>T (p. A353V) in DKC1 were identified. Both mutations locally changed the structure of dyskerin. Variant Q31P and A353V were predicted to have “deleterious” and “natural” effects on the function of dyskerin, respectively. Conclusion The novel variant and missense variant detected in the DKC1 gene improve our understanding of DC and broaden the mutation spectrum of the DKC1 gene.

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