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Article

Systemic Presentation of Somatic TET2 Mutated B-Cell Lymphoma in a Child With Kabuki Syndrome and a Germline KMT2D Variant.

American journal of clinical pathology - 3 Nov 2022

Kumar Jyoti, Alspach Amy E, Zucker Jacob P, Gratzinger Dita

Abstract excerpt

OBJECTIVES: Kabuki syndrome (KS) is a rare congenital malformation syndrome associated with germline KMT2D mutations. Recurrent somatic mutations in KMT2D have frequently been observed in B-cell lymphoma, but limited studies are available that evaluate the genetic landscape of B-cell lymphomas in the setting of KS. METHODS: We describe a unique case of B-cell lymphoma that illustrates histologic features of...

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Identifiers

PMID: 36048893
DOI: 10.1093/ajcp/aqac104

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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