Hematologic malignancies and Li–Fraumeni syndrome

Author:

Swaminathan Mahesh,Bannon Sarah A.,Routbort Mark,Naqvi Kiran,Kadia Tapan M.,Takahashi KoichiORCID,Alvarado Yesid,Ravandi-Kashani Farhad,Patel Keyur P.,Champlin Richard,Kantarjian Hagop,Strong Louise,DiNardo Courtney D.

Abstract

Li–Fraumeni syndrome (LFS) is an autosomal dominant condition associated with a high risk of a broad range of childhood- and adult-onset cancers. LFS is related to germline mutations of the tumor-suppressor gene TP53. The most common reported leukemia associated with LFS is hypodiploid acute lymphoblastic leukemia, but myeloid malignancies including acute myeloid leukemia (AML), chronic myeloid leukemia, and myelodysplastic syndrome (MDS) are also reported, often in the setting of therapy-related disease. We reviewed the clinicopathologic characteristics including cytogenetics and molecular analysis for seven adult patients with LFS and hematologic malignancies evaluated at the Hereditary Hematologic Malignancy Clinic (HHMC) at MD Anderson Cancer Center. We present this LFS review series to increase awareness of LFS for the appropriate diagnosis of both patients and potentially affected relatives, as well as provide experience with patient outcomes in this difficult to treat population.

Publisher

Cold Spring Harbor Laboratory

Subject

General Medicine

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