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Letters

Near-Haploid B-Cell Acute Lymphoblastic Leukemia in a Patient with Rubinstein-Taybi Syndrome

ORCID Icon, , , , & ORCID Icon
Pages 747-754 | Received 23 Nov 2021, Accepted 16 Feb 2022, Published online: 11 Mar 2022
 

Abstract

Rubinstein-Taybi syndrome (RSTS) is a rare disorder characterized by developmental delay, short stature, dysmorphic facies and skeletal abnormalities. RSTS has been linked to a variety of malignant and benign tumors, but the frequency and characteristics of RSTS-related neoplasms remain unclear. We describe a unique case of near haploid B-cell lymphoblastic leukemia (B-ALL) in a 6-year-old girl with RSTS who harbors a likely pathogenic variant in CREBBP. Somatic CREBBP variants are enriched in some subsets of ALL; however, germline variants have not been previously described in childhood leukemia and may represent an underrecognized predisposition to malignancy. Our patient’s disease responded poorly to conventional chemotherapy and relapsed following a complete remission achieved with CD19 CAR T cell therapy. We propose that the constitutional CREBBP variant may have played a significant role in the leukemia’s resistance to chemotherapy and this patient’s poor response to therapy.

Additional information

Funding

This work was supported by CPRIT RP210027 - Baylor College of Medicine Comprehensive Cancer Training Program.

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