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inv(16)

MedGen UID:
856738
•Concept ID:
C3897144
•
Cell or Molecular Dysfunction

Definition

A chromosomal inversion that involves chromosome 16. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVinv(16)

Professional guidelines

PubMed

The core concepts of core binding factor acute myeloid leukemia: Current considerations for prognosis and treatment.
Darwish C, Farina K, Tremblay D
Blood Rev 2023 Nov;62:101117. Epub 2023 Jul 25 doi: 10.1016/j.blre.2023.101117. PMID: 37524647
Core binding factor acute myelogenous leukemia-2021 treatment algorithm.
Borthakur G, Kantarjian H
Blood Cancer J 2021 Jun 16;11(6):114. doi: 10.1038/s41408-021-00503-6. PMID: 34135311Free PMC Article
Biomarkers of Gemtuzumab Ozogamicin Response for Acute Myeloid Leukemia Treatment.
Fenwarth L, Fournier E, Cheok M, Boyer T, Gonzales F, Castaigne S, Boissel N, Lambert J, Dombret H, Preudhomme C, Duployez N
Int J Mol Sci 2020 Aug 6;21(16) doi: 10.3390/ijms21165626. PMID: 32781546Free PMC Article

Recent clinical studies

Etiology

Prognostic impact of cooccurring mutations in FLT3-ITD pediatric acute myeloid leukemia.
Tarlock K, Gerbing RB, Ries RE, Smith JL, Leonti A, Huang BJ, Kirkey D, Robinson L, Peplinski JH, Lange B, Cooper TM, Gamis AS, Kolb EA, Aplenc R, Pollard JA, Alonzo TA, Meshinchi S
Blood Adv 2024 May 14;8(9):2094-2103. doi: 10.1182/bloodadvances.2023011980. PMID: 38295280Free PMC Article
AML with inv(16)/t(16;16) and high-risk cytogenetic abnormalities: atypical features and unfavorable outcome.
Assaf N, Lefebvre C, Raggueneau V, Guignedoux G, Marceau-Renaut A, Chevalier S, Tondeur S, Bories D, Benramdane R, Rousselot P, Terré C
Hematology 2022 Dec;27(1):636-641. doi: 10.1080/16078454.2022.2078027. PMID: 35622005
Core binding factor acute myelogenous leukemia-2021 treatment algorithm.
Borthakur G, Kantarjian H
Blood Cancer J 2021 Jun 16;11(6):114. doi: 10.1038/s41408-021-00503-6. PMID: 34135311Free PMC Article
Core-binding factor acute myeloid leukemia.
Sangle NA, Perkins SL
Arch Pathol Lab Med 2011 Nov;135(11):1504-9. doi: 10.5858/arpa.2010-0482-RS. PMID: 22032582
Refinement of cytogenetic classification in acute myeloid leukemia: determination of prognostic significance of rare recurring chromosomal abnormalities among 5876 younger adult patients treated in the United Kingdom Medical Research Council trials.
Grimwade D, Hills RK, Moorman AV, Walker H, Chatters S, Goldstone AH, Wheatley K, Harrison CJ, Burnett AK; National Cancer Research Institute Adult Leukaemia Working Group
Blood 2010 Jul 22;116(3):354-65. Epub 2010 Apr 12 doi: 10.1182/blood-2009-11-254441. PMID: 20385793

Diagnosis

Prognostic impact of cooccurring mutations in FLT3-ITD pediatric acute myeloid leukemia.
Tarlock K, Gerbing RB, Ries RE, Smith JL, Leonti A, Huang BJ, Kirkey D, Robinson L, Peplinski JH, Lange B, Cooper TM, Gamis AS, Kolb EA, Aplenc R, Pollard JA, Alonzo TA, Meshinchi S
Blood Adv 2024 May 14;8(9):2094-2103. doi: 10.1182/bloodadvances.2023011980. PMID: 38295280Free PMC Article
AML with inv(16)/t(16;16) and high-risk cytogenetic abnormalities: atypical features and unfavorable outcome.
Assaf N, Lefebvre C, Raggueneau V, Guignedoux G, Marceau-Renaut A, Chevalier S, Tondeur S, Bories D, Benramdane R, Rousselot P, Terré C
Hematology 2022 Dec;27(1):636-641. doi: 10.1080/16078454.2022.2078027. PMID: 35622005
Morphological and Immunophenotypic Clues to the WHO Categories of Acute Myeloid Leukaemia.
Bain BJ, Béné MC
Acta Haematol 2019;141(4):232-244. Epub 2019 Apr 9 doi: 10.1159/000496097. PMID: 30965338
Therapy-Related Myeloid Neoplasms.
Bueso-Ramos CE, Kanagal-Shamanna R, Routbort MJ, Hanson CA
Am J Clin Pathol 2015 Aug;144(2):207-18. doi: 10.1309/AJCPU1JO2LYTWUAV. PMID: 26185306
Refinement of cytogenetic classification in acute myeloid leukemia: determination of prognostic significance of rare recurring chromosomal abnormalities among 5876 younger adult patients treated in the United Kingdom Medical Research Council trials.
Grimwade D, Hills RK, Moorman AV, Walker H, Chatters S, Goldstone AH, Wheatley K, Harrison CJ, Burnett AK; National Cancer Research Institute Adult Leukaemia Working Group
Blood 2010 Jul 22;116(3):354-65. Epub 2010 Apr 12 doi: 10.1182/blood-2009-11-254441. PMID: 20385793

Therapy

Targeting miR-126 in inv(16) acute myeloid leukemia inhibits leukemia development and leukemia stem cell maintenance.
Zhang L, Nguyen LXT, Chen YC, Wu D, Cook GJ, Hoang DH, Brewer CJ, He X, Dong H, Li S, Li M, Zhao D, Qi J, Hua WK, Cai Q, Carnahan E, Chen W, Wu X, Swiderski P, Rockne RC, Kortylewski M, Li L, Zhang B, Marcucci G, Kuo YH
Nat Commun 2021 Oct 22;12(1):6154. doi: 10.1038/s41467-021-26420-7. PMID: 34686664Free PMC Article
Core binding factor acute myelogenous leukemia-2021 treatment algorithm.
Borthakur G, Kantarjian H
Blood Cancer J 2021 Jun 16;11(6):114. doi: 10.1038/s41408-021-00503-6. PMID: 34135311Free PMC Article
Emerging therapies for inv(16) AML.
Surapally S, Tenen DG, Pulikkan JA
Blood 2021 May 13;137(19):2579-2584. doi: 10.1182/blood.2020009933. PMID: 33821975Free PMC Article
Refinement of cytogenetic classification in acute myeloid leukemia: determination of prognostic significance of rare recurring chromosomal abnormalities among 5876 younger adult patients treated in the United Kingdom Medical Research Council trials.
Grimwade D, Hills RK, Moorman AV, Walker H, Chatters S, Goldstone AH, Wheatley K, Harrison CJ, Burnett AK; National Cancer Research Institute Adult Leukaemia Working Group
Blood 2010 Jul 22;116(3):354-65. Epub 2010 Apr 12 doi: 10.1182/blood-2009-11-254441. PMID: 20385793
Therapy-related myeloid leukemia.
Thirman MJ, Larson RA
Hematol Oncol Clin North Am 1996 Apr;10(2):293-320. doi: 10.1016/s0889-8588(05)70340-3. PMID: 8707757

Prognosis

Prognostic impact of cooccurring mutations in FLT3-ITD pediatric acute myeloid leukemia.
Tarlock K, Gerbing RB, Ries RE, Smith JL, Leonti A, Huang BJ, Kirkey D, Robinson L, Peplinski JH, Lange B, Cooper TM, Gamis AS, Kolb EA, Aplenc R, Pollard JA, Alonzo TA, Meshinchi S
Blood Adv 2024 May 14;8(9):2094-2103. doi: 10.1182/bloodadvances.2023011980. PMID: 38295280Free PMC Article
AML with inv(16)/t(16;16) and high-risk cytogenetic abnormalities: atypical features and unfavorable outcome.
Assaf N, Lefebvre C, Raggueneau V, Guignedoux G, Marceau-Renaut A, Chevalier S, Tondeur S, Bories D, Benramdane R, Rousselot P, Terré C
Hematology 2022 Dec;27(1):636-641. doi: 10.1080/16078454.2022.2078027. PMID: 35622005
Core binding factor acute myelogenous leukemia-2021 treatment algorithm.
Borthakur G, Kantarjian H
Blood Cancer J 2021 Jun 16;11(6):114. doi: 10.1038/s41408-021-00503-6. PMID: 34135311Free PMC Article
Core-binding factor acute myeloid leukemia.
Sangle NA, Perkins SL
Arch Pathol Lab Med 2011 Nov;135(11):1504-9. doi: 10.5858/arpa.2010-0482-RS. PMID: 22032582
Refinement of cytogenetic classification in acute myeloid leukemia: determination of prognostic significance of rare recurring chromosomal abnormalities among 5876 younger adult patients treated in the United Kingdom Medical Research Council trials.
Grimwade D, Hills RK, Moorman AV, Walker H, Chatters S, Goldstone AH, Wheatley K, Harrison CJ, Burnett AK; National Cancer Research Institute Adult Leukaemia Working Group
Blood 2010 Jul 22;116(3):354-65. Epub 2010 Apr 12 doi: 10.1182/blood-2009-11-254441. PMID: 20385793

Clinical prediction guides

Comprehensive Mutation Profile in Acute Myeloid Leukemia Patients with RUNX1-RUNX1T1 or CBFB-MYH11 Fusions.
Qin W, Chen X, Shen HJ, Wang Z, Cai X, Jiang N, Hua H
Turk J Haematol 2022 Jun 1;39(2):84-93. Epub 2022 Apr 21 doi: 10.4274/tjh.galenos.2022.2021.0641. PMID: 35445594Free PMC Article
Genetic features and clinical outcomes of patients with isolated and comutated DDX41-mutated myeloid neoplasms.
Alkhateeb HB, Nanaa A, Viswanatha D, Foran JM, Badar T, Sproat L, He R, Nguyen P, Jevremovic D, Salama ME, Greipp P, Gangat N, Tefferi A, Litzow MR, Mangaonkar AA, Shah MV, Patnaik M, Al-Kali A
Blood Adv 2022 Jan 25;6(2):528-532. doi: 10.1182/bloodadvances.2021005738. PMID: 34644397Free PMC Article
Biomarkers of Gemtuzumab Ozogamicin Response for Acute Myeloid Leukemia Treatment.
Fenwarth L, Fournier E, Cheok M, Boyer T, Gonzales F, Castaigne S, Boissel N, Lambert J, Dombret H, Preudhomme C, Duployez N
Int J Mol Sci 2020 Aug 6;21(16) doi: 10.3390/ijms21165626. PMID: 32781546Free PMC Article
Emerging diagnostic and therapeutic approaches in core binding factor acute myeloid leukaemia.
Ustun C, Marcucci G
Curr Opin Hematol 2015 Mar;22(2):85-91. doi: 10.1097/MOH.0000000000000124. PMID: 25635758
Refinement of cytogenetic classification in acute myeloid leukemia: determination of prognostic significance of rare recurring chromosomal abnormalities among 5876 younger adult patients treated in the United Kingdom Medical Research Council trials.
Grimwade D, Hills RK, Moorman AV, Walker H, Chatters S, Goldstone AH, Wheatley K, Harrison CJ, Burnett AK; National Cancer Research Institute Adult Leukaemia Working Group
Blood 2010 Jul 22;116(3):354-65. Epub 2010 Apr 12 doi: 10.1182/blood-2009-11-254441. PMID: 20385793

Recent systematic reviews

Prevalence and Clinical Outcome of FMS-Like Tyrosine Kinase Mutations Among Patients With Core Binding Factor-Acute Myeloid Leukemia: Systematic Review and Meta-Analysis.
Srinivasan S, Kumar S, Vijayasekharan K, Agrawal AK
Clin Lymphoma Myeloma Leuk 2022 Apr;22(4):e221-e232. Epub 2021 Oct 2 doi: 10.1016/j.clml.2021.09.020. PMID: 34750085
Prognostic Importance of C-KIT Mutations in Core Binding Factor Acute Myeloid Leukemia: A Systematic Review.
Ayatollahi H, Shajiei A, Sadeghian MH, Sheikhi M, Yazdandoust E, Ghazanfarpour M, Shams SF, Shakeri S
Hematol Oncol Stem Cell Ther 2017 Mar;10(1):1-7. Epub 2016 Sep 3 doi: 10.1016/j.hemonc.2016.08.005. PMID: 27613372
Prognostic Significance of KIT Mutations in Core-Binding Factor Acute Myeloid Leukemia: A Systematic Review and Meta-Analysis.
Chen W, Xie H, Wang H, Chen L, Sun Y, Chen Z, Li Q
PLoS One 2016;11(1):e0146614. Epub 2016 Jan 15 doi: 10.1371/journal.pone.0146614. PMID: 26771376Free PMC Article

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