AJMP2204 - CME/CMLE - Systemic Presentation of Somatic TET2 Mutated B-cell Lymphoma in a Child with Kabuki syndrome and Germline KMT2D Variant-Systemic Presentation of Somatic TET2 Mutated B-cell Lymphoma in a Child with Kabuki syndrome and Germline KMT2D Variant

Systemic Presentation of Somatic TET2 Mutated B-cell Lymphoma in a Child with Kabuki syndrome and Germline KMT2D Variant

Back to course

Pdf Summary

The report discusses a rare case of a child with Kabuki syndrome (KS) and a germline KMT2D variant who developed a systemic B-cell lymphoma. The patient presented with lymphadenopathy and clonal lymphocytosis. Histologically, the lymphoma resembled pediatric-type follicular lymphoma (FL). Genetic analysis revealed somatic TET2 and subclonal CXCR4 variants, indicating abnormal epigenetic regulation. This case underscores the importance of close monitoring and considering clinical context in diagnosing pediatric FL-like lesions in KS patients. The report highlights the association of KMT2D mutations with lymphoma development and the potential role of TET2 in promoting lymphomagenesis. The presence of specific gene variants suggests a complex interplay of genetic factors contributing to the disease. The patient was treated with lenalidomide and rituximab, but unfortunately, succumbed to complications including Pneumocystis jiroveci pneumonia. The role of KMT2D as a tumor suppressor and the significance of epigenetic alterations in driving lymphomagenesis are emphasized. The report concludes that the unique genetic landscape in this case underscores the need for careful surveillance in KS patients with potential lymphoma risks. Key findings include the co-occurrence of germline KMT2D and somatic TET2 mutations in a systemic B-cell lymphoma in a KS patient, shedding light on the interplay between genetic mutations in promoting lymphomagenesis.

Keywords

Kabuki syndrome

KMT2D variant

B-cell lymphoma

lymphadenopathy

pediatric-type follicular lymphoma

TET2 variant

CXCR4 variant

genetic analysis

epigenetic regulation

lymphomagenesis