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i(17q)

MedGen UID:
308346
•Concept ID:
C1515648
•
Cell or Molecular Dysfunction
Synonym: Isochromosome 17q

Definition

A cytogenetic abnormality involving chromosome 17 that results from loss of the short arm and duplication of the long arm. This aberration is associated with a variety of neoplastic diseases, and is indicative of a poor prognosis for individuals with hematologic malignancies. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVi(17q)

Professional guidelines

PubMed

Primary myelofibrosis: 2023 update on diagnosis, risk-stratification, and management.
Tefferi A
Am J Hematol 2023 May;98(5):801-821. Epub 2023 Feb 6 doi: 10.1002/ajh.26857. PMID: 36680511
Primary myelofibrosis: 2021 update on diagnosis, risk-stratification and management.
Tefferi A
Am J Hematol 2021 Jan;96(1):145-162. Epub 2020 Dec 2 doi: 10.1002/ajh.26050. PMID: 33197049
Primary myelofibrosis: 2017 update on diagnosis, risk-stratification, and management.
Tefferi A
Am J Hematol 2016 Dec;91(12):1262-1271. doi: 10.1002/ajh.24592. PMID: 27870387

Recent clinical studies

Etiology

Primary myelofibrosis: 2023 update on diagnosis, risk-stratification, and management.
Tefferi A
Am J Hematol 2023 May;98(5):801-821. Epub 2023 Feb 6 doi: 10.1002/ajh.26857. PMID: 36680511
Advances in myelodysplastic/myeloproliferative neoplasms.
Prakash S, Arber DA, Bueso-Ramos C, Hasserjian RP, Orazi A
Virchows Arch 2023 Jan;482(1):69-83. Epub 2022 Dec 5 doi: 10.1007/s00428-022-03465-7. PMID: 36469102
Myeloproliferative Neoplasms with Monocytosis.
Morsia E, Gangat N
Curr Hematol Malig Rep 2022 Feb;17(1):46-51. Epub 2021 Nov 13 doi: 10.1007/s11899-021-00660-2. PMID: 34773576
Primary myelofibrosis: 2021 update on diagnosis, risk-stratification and management.
Tefferi A
Am J Hematol 2021 Jan;96(1):145-162. Epub 2020 Dec 2 doi: 10.1002/ajh.26050. PMID: 33197049
Relapse and cytogenetic evolution in myeloid neoplasms.
Ertz-Archambault N, Kelemen K
Panminerva Med 2017 Dec;59(4):308-319. doi: 10.23736/S0031-0808.17.03380-8. PMID: 29144072

Diagnosis

Primary myelofibrosis: 2023 update on diagnosis, risk-stratification, and management.
Tefferi A
Am J Hematol 2023 May;98(5):801-821. Epub 2023 Feb 6 doi: 10.1002/ajh.26857. PMID: 36680511
Advances in myelodysplastic/myeloproliferative neoplasms.
Prakash S, Arber DA, Bueso-Ramos C, Hasserjian RP, Orazi A
Virchows Arch 2023 Jan;482(1):69-83. Epub 2022 Dec 5 doi: 10.1007/s00428-022-03465-7. PMID: 36469102
Myeloproliferative Neoplasms with Monocytosis.
Morsia E, Gangat N
Curr Hematol Malig Rep 2022 Feb;17(1):46-51. Epub 2021 Nov 13 doi: 10.1007/s11899-021-00660-2. PMID: 34773576
Primary myelofibrosis: 2021 update on diagnosis, risk-stratification and management.
Tefferi A
Am J Hematol 2021 Jan;96(1):145-162. Epub 2020 Dec 2 doi: 10.1002/ajh.26050. PMID: 33197049
Relapse and cytogenetic evolution in myeloid neoplasms.
Ertz-Archambault N, Kelemen K
Panminerva Med 2017 Dec;59(4):308-319. doi: 10.23736/S0031-0808.17.03380-8. PMID: 29144072

Therapy

Primary myelofibrosis: 2023 update on diagnosis, risk-stratification, and management.
Tefferi A
Am J Hematol 2023 May;98(5):801-821. Epub 2023 Feb 6 doi: 10.1002/ajh.26857. PMID: 36680511
Relapse and cytogenetic evolution in myeloid neoplasms.
Ertz-Archambault N, Kelemen K
Panminerva Med 2017 Dec;59(4):308-319. doi: 10.23736/S0031-0808.17.03380-8. PMID: 29144072
Primary myelofibrosis: 2013 update on diagnosis, risk-stratification, and management.
Tefferi A
Am J Hematol 2013 Feb;88(2):141-50. doi: 10.1002/ajh.23384. PMID: 23349007
Cytogenetic and molecular genetic evolution of chronic myeloid leukemia.
Johansson B, Fioretos T, Mitelman F
Acta Haematol 2002;107(2):76-94. doi: 10.1159/000046636. PMID: 11919388
Cytogenetics and molecular genetics of malignant gliomas and medulloblastoma.
Bigner SH, Vogelstein B
Brain Pathol 1990 Sep;1(1):12-8. doi: 10.1111/j.1750-3639.1990.tb00633.x. PMID: 1669688

Prognosis

Primary myelofibrosis: 2023 update on diagnosis, risk-stratification, and management.
Tefferi A
Am J Hematol 2023 May;98(5):801-821. Epub 2023 Feb 6 doi: 10.1002/ajh.26857. PMID: 36680511
Myeloproliferative Neoplasms with Monocytosis.
Morsia E, Gangat N
Curr Hematol Malig Rep 2022 Feb;17(1):46-51. Epub 2021 Nov 13 doi: 10.1007/s11899-021-00660-2. PMID: 34773576
Primary myelofibrosis: 2021 update on diagnosis, risk-stratification and management.
Tefferi A
Am J Hematol 2021 Jan;96(1):145-162. Epub 2020 Dec 2 doi: 10.1002/ajh.26050. PMID: 33197049
Relapse and cytogenetic evolution in myeloid neoplasms.
Ertz-Archambault N, Kelemen K
Panminerva Med 2017 Dec;59(4):308-319. doi: 10.23736/S0031-0808.17.03380-8. PMID: 29144072
Somatic SETBP1 mutations in myeloid neoplasms.
Makishima H
Int J Hematol 2017 Jun;105(6):732-742. Epub 2017 Apr 26 doi: 10.1007/s12185-017-2241-1. PMID: 28447248

Clinical prediction guides

Primary myelofibrosis: 2023 update on diagnosis, risk-stratification, and management.
Tefferi A
Am J Hematol 2023 May;98(5):801-821. Epub 2023 Feb 6 doi: 10.1002/ajh.26857. PMID: 36680511
Myeloproliferative Neoplasms with Monocytosis.
Morsia E, Gangat N
Curr Hematol Malig Rep 2022 Feb;17(1):46-51. Epub 2021 Nov 13 doi: 10.1007/s11899-021-00660-2. PMID: 34773576
Primary myelofibrosis: 2021 update on diagnosis, risk-stratification and management.
Tefferi A
Am J Hematol 2021 Jan;96(1):145-162. Epub 2020 Dec 2 doi: 10.1002/ajh.26050. PMID: 33197049
Relapse and cytogenetic evolution in myeloid neoplasms.
Ertz-Archambault N, Kelemen K
Panminerva Med 2017 Dec;59(4):308-319. doi: 10.23736/S0031-0808.17.03380-8. PMID: 29144072
Primary myelofibrosis: 2017 update on diagnosis, risk-stratification, and management.
Tefferi A
Am J Hematol 2016 Dec;91(12):1262-1271. doi: 10.1002/ajh.24592. PMID: 27870387

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