Hematologic malignancies and Li–Fraumeni syndrome

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

doi:10.1101/mcs.a003210

Hematologic malignancies and Li–Fraumeni syndrome

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

Research output: Contribution to journal › Article › peer-review

41 Scopus citations

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.

Original language	English (US)
Article number	a003210
Journal	Cold Spring Harbor Molecular Case Studies
Volume	5
Issue number	1
DOIs	https://doi.org/10.1101/mcs.a003210
State	Published - 2019

ASJC Scopus subject areas

Biochemistry
Molecular Medicine
Genetics
Genetics(clinical)

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title = "Hematologic malignancies and Li–Fraumeni syndrome",

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.",

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

note = "Funding Information: This work was supported in part by The University of Texas MD Anderson Cancer Center Support Grant (CA016672), the Charif Souki Cancer Research Fund, The University of Texas MD Anderson Cancer Center Leukemia Specialized Program of Research Excellence (SPORE grant P50 CA100632), and generous philanthropic contributions to MD Anderson{\textquoteright}s MDS/ AML Moon Shot Program. Publisher Copyright: {\textcopyright} 2019 Swaminathan et al.",

year = "2019",

doi = "10.1101/mcs.a003210",

language = "English (US)",

volume = "5",

journal = "Cold Spring Harbor Molecular Case Studies",

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T1 - Hematologic malignancies and Li–Fraumeni syndrome

AU - Swaminathan, Mahesh

AU - Bannon, Sarah A.

AU - Routbort, Mark

AU - Naqvi, Kiran

AU - Kadia, Tapan M.

AU - Takahashi, Koichi

AU - Alvarado, Yesid

AU - Ravandi-Kashani, Farhad

AU - Patel, Keyur P.

AU - Champlin, Richard

AU - Kantarjian, Hagop

AU - Strong, Louise

AU - DiNardo, Courtney D.

N1 - Funding Information: This work was supported in part by The University of Texas MD Anderson Cancer Center Support Grant (CA016672), the Charif Souki Cancer Research Fund, The University of Texas MD Anderson Cancer Center Leukemia Specialized Program of Research Excellence (SPORE grant P50 CA100632), and generous philanthropic contributions to MD Anderson’s MDS/ AML Moon Shot Program. Publisher Copyright: © 2019 Swaminathan et al.

PY - 2019

Y1 - 2019

N2 - 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.

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Hematologic malignancies and Li–Fraumeni syndrome

Abstract

ASJC Scopus subject areas

MD Anderson CCSG core facilities

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