TY - JOUR
T1 - Incidental identification of inv(16)(p13.1q22)/CBFB-MYH11 variant transcript in a patient with therapy-related acute myeloid leukemia by routine leukemia translocation panel screen
T2 - Implications for diagnosis and therapy
AU - Quesada, Andrés E.
AU - Luthra, Rajyalakshmi
AU - Jabbour, Elias
AU - Patel, Keyur P.
AU - Khoury, Joseph D.
AU - Tang, Zhenya
AU - Alvarez, Hector
AU - Mallampati, Saradhi
AU - Garcia-Manero, Guillermo
AU - Montalban-Bravo, Guillermo
AU - Jeffrey Medeiros, L.
AU - Kanagal-Shamanna, Rashmi
N1 - Publisher Copyright:
© 2021 Cold Spring Harbor Laboratory Press. All rights reserved.
PY - 2021/6
Y1 - 2021/6
N2 - A 52-yr-old woman presented with therapy-related acute myeloid leukemia. A bone marrow biopsy showed 21% blasts with a myeloid phenotype and no other notable features such as abnormal eosinophils. Routine nanofluidics-based reverse transcriptase polymerase chain reaction (PCR) leukemia translocation panel designed to screen for recurrent genetic abnormalities in acute leukemia detected an inversion 16 transcript variant E. This prompted rereview of karyotype and fluorescence in situ hybridization studies, which confirmed inv(16), leading to appropriate prognostication and modification of treatment. This case underscores the utility of a powerful molecular screening method for the routine detection of recurrent genetic abnormalities of acute myeloid leukemia. It was especially useful in this case because of the lack of characteristic morphologic findings seen in inversion 16 and the difficulty in its detection by conventional karyotype analysis.
AB - A 52-yr-old woman presented with therapy-related acute myeloid leukemia. A bone marrow biopsy showed 21% blasts with a myeloid phenotype and no other notable features such as abnormal eosinophils. Routine nanofluidics-based reverse transcriptase polymerase chain reaction (PCR) leukemia translocation panel designed to screen for recurrent genetic abnormalities in acute leukemia detected an inversion 16 transcript variant E. This prompted rereview of karyotype and fluorescence in situ hybridization studies, which confirmed inv(16), leading to appropriate prognostication and modification of treatment. This case underscores the utility of a powerful molecular screening method for the routine detection of recurrent genetic abnormalities of acute myeloid leukemia. It was especially useful in this case because of the lack of characteristic morphologic findings seen in inversion 16 and the difficulty in its detection by conventional karyotype analysis.
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U2 - 10.1101/MCS.A006084
DO - 10.1101/MCS.A006084
M3 - Article
C2 - 34117074
AN - SCOPUS:85108302664
SN - 2373-2873
VL - 7
JO - Cold Spring Harbor Molecular Case Studies
JF - Cold Spring Harbor Molecular Case Studies
IS - 3
M1 - a006084
ER -