Burkitt lymphoma in a patient with Kabuki syndrome carrying a novel KMT2D mutation

Emmanuel de Billy, Luisa Strocchio, Antonella Cacchione, Emanuele Agolini, Maria Gnazzo, Antonio Novelli, Rita De Vito, Rossella Capolino, Maria Cristina Digilio, Roberta Caruso, Angela Mastronuzzi, Franco Locatelli

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Kabuki syndrome (KS) is an extremely rare genetic disorder, mainly caused by germline mutations at specific epigenetic modifier genes, including KMT2D. Because the tumor suppressor gene KMT2D is also frequently altered in many cancer types, it has been suggested that KS may predispose to the development of cancer. However, KS being a rare disorder, few data are available on the incidence of cancer in KS patients. Here, we report the case of a 5-year-old boy affected by KS who developed Burkitt lymphoma (BL). Genetic analysis revealed the presence of a novel heterozygous mutation in the splice site of the intron 4 of KMT2D gene in both peripheral blood-extracted DNA and tumour cells. In addition, the tumour sample of the patient was positive for the classical somatic chromosomal translocation t(8;14) involving the c-MYC gene frequently identified in BL. We propose that the mutated KMT2D gene contributes to the development of both KS and BL observed in our patient and we suggest that strict surveillance must be performed in KS patients.

Original languageEnglish
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Publication statusPublished - Dec 20 2018


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