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Review
. 2019 Feb 1;5(1):a003210.
doi: 10.1101/mcs.a003210. Print 2019 Feb.

Hematologic malignancies and Li-Fraumeni syndrome

Mahesh Swaminathan  1 , Sarah A Bannon  2 , Mark Routbort  3 , Kiran Naqvi  1 , Tapan M Kadia  1 , Koichi Takahashi  1 , Yesid Alvarado  1 , Farhad Ravandi-Kashani  1 , Keyur P Patel  3 , Richard Champlin  4 , Hagop Kantarjian  1 , Louise Strong  5 , Courtney D DiNardo  1
Affiliations
Review

Hematologic malignancies and Li-Fraumeni syndrome

Mahesh Swaminathan et al. Cold Spring Harb Mol Case Stud. .

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.

Keywords: leukemia; multiple lineage myelodysplasia.

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Figures

Figure 1.
Figure 1.
(A) Pedigree charts of (A) case 1, (B) case 2, (C) case 3, (D) case 4, (E) case 5, (F) case 6, and (G) case 7.
See this image and copyright information in PMC

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