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Loss of Chromosome 17q

MedGen UID:
274701
•Concept ID:
C1517966
•
Cell or Molecular Dysfunction
Synonym: del(17q)

Definition

A cytogenetic abnormality that refers to the loss of all or part of the long arm of chromosome 17 (17q). [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLoss of Chromosome 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
Genetic gains and losses in oral squamous cell carcinoma: impact on clinical management.
Ribeiro IP, Marques F, Caramelo F, Pereira J, Patrício M, Prazeres H, Ferrão J, Julião MJ, Castelo-Branco M, de Melo JB, Baptista IP, Carreira IM
Cell Oncol (Dordr) 2014 Feb;37(1):29-39. Epub 2013 Dec 19 doi: 10.1007/s13402-013-0161-5. PMID: 24353162
Risk-based management: current concepts of treating malignant solid tumors of childhood.
Grosfeld JL
J Am Coll Surg 1999 Oct;189(4):407-25. doi: 10.1016/s1072-7515(99)00167-2. PMID: 10509467

Recent clinical studies

Etiology

Molecular characterisation defines clinically-actionable heterogeneity within Group 4 medulloblastoma and improves disease risk-stratification.
Goddard J, Castle J, Southworth E, Fletcher A, Crosier S, Martin-Guerrero I, García-Ariza M, Navajas A, Masliah-Planchon J, Bourdeaut F, Dufour C, Ayrault O, Goschzik T, Pietsch T, Sill M, Pfister SM, Rutkowski S, Richardson S, Hill RM, Williamson D, Bailey S, Schwalbe EC, Clifford SC, Hicks D
Acta Neuropathol 2023 May;145(5):651-666. Epub 2023 Apr 4 doi: 10.1007/s00401-023-02566-0. PMID: 37014508Free PMC Article
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
Molecular Stratification of Medulloblastoma: Clinical Outcomes and Therapeutic Interventions.
Sursal T, Ronecker JS, Dicpinigaitis AJ, Mohan AL, Tobias ME, Gandhi CD, Jhanwar-Uniyal M
Anticancer Res 2022 May;42(5):2225-2239. doi: 10.21873/anticanres.15703. PMID: 35489737
Impact of chromosome alterations, genetic mutations and clonal hematopoiesis of indeterminate potential (CHIP) on the classification and risk stratification of MDS.
Ganguly BB, Banerjee D, Agarwal MB
Blood Cells Mol Dis 2018 Mar;69:90-100. Epub 2017 Oct 16 doi: 10.1016/j.bcmd.2017.10.001. PMID: 29079134
Pathology and genetics of meningiomas.
Alahmadi H, Croul SE
Semin Diagn Pathol 2011 Nov;28(4):314-24. doi: 10.1053/j.semdp.2011.01.002. PMID: 22195409

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
Melanotic Schwannoma of the Vulva: A Case Report and Review of the Literature.
Cohen JN, Yeh I, LeBoit PE
Am J Dermatopathol 2020 Jan;42(1):46-51. doi: 10.1097/DAD.0000000000001482. PMID: 31268928
Impact of chromosome alterations, genetic mutations and clonal hematopoiesis of indeterminate potential (CHIP) on the classification and risk stratification of MDS.
Ganguly BB, Banerjee D, Agarwal MB
Blood Cells Mol Dis 2018 Mar;69:90-100. Epub 2017 Oct 16 doi: 10.1016/j.bcmd.2017.10.001. PMID: 29079134
Cytogenetics of melanoma and nonmelanoma skin cancer.
Carless MA, Griffiths LR
Adv Exp Med Biol 2014;810:160-81. doi: 10.1007/978-1-4939-0437-2_9. PMID: 25207365
The role of cytogenetics in the classification of soft tissue tumours.
Dei Tos AP, Dal Cin P
Virchows Arch 1997 Aug;431(2):83-94. doi: 10.1007/s004280050073. PMID: 9293889

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
Primary mediastinal large B-cell lymphoma is characterized by large-scale copy-neutral loss of heterozygosity.
Tuveri S, Debackere K, Marcelis L, Dierckxsens N, Demeulemeester J, Dimitriadou E, Dierickx D, Lefesvre P, Deraedt K, Graux C, Michaux L, Cools J, Tousseyn T, Vermeesch JR, Wlodarska I
Genes Chromosomes Cancer 2022 Oct;61(10):603-615. Epub 2022 Jul 9 doi: 10.1002/gcc.23069. PMID: 35611992
Medulloblastomas in adults: prognostic factors and lessons from paediatrics.
Fellay CN, Frappaz D, Sunyach MP, Franceschi E, Brandes AA, Stupp R
Curr Opin Neurol 2011 Dec;24(6):626-32. doi: 10.1097/WCO.0b013e32834cd4b1. PMID: 22027544
Variety and complexity of chromosome 17 translocations in neuroblastoma.
Schleiermacher G, Raynal V, Janoueix-Lerosey I, Combaret V, Aurias A, Delattre O
Genes Chromosomes Cancer 2004 Feb;39(2):143-50. doi: 10.1002/gcc.10313. PMID: 14695994
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

Molecular characterisation defines clinically-actionable heterogeneity within Group 4 medulloblastoma and improves disease risk-stratification.
Goddard J, Castle J, Southworth E, Fletcher A, Crosier S, Martin-Guerrero I, García-Ariza M, Navajas A, Masliah-Planchon J, Bourdeaut F, Dufour C, Ayrault O, Goschzik T, Pietsch T, Sill M, Pfister SM, Rutkowski S, Richardson S, Hill RM, Williamson D, Bailey S, Schwalbe EC, Clifford SC, Hicks D
Acta Neuropathol 2023 May;145(5):651-666. Epub 2023 Apr 4 doi: 10.1007/s00401-023-02566-0. PMID: 37014508Free PMC Article
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
Molecular Stratification of Medulloblastoma: Clinical Outcomes and Therapeutic Interventions.
Sursal T, Ronecker JS, Dicpinigaitis AJ, Mohan AL, Tobias ME, Gandhi CD, Jhanwar-Uniyal M
Anticancer Res 2022 May;42(5):2225-2239. doi: 10.21873/anticanres.15703. PMID: 35489737
Gain of 1q and loss of 9q21.3-q32 are associated with a less favorable prognosis in papillary thyroid carcinoma.
Kjellman P, Lagercrantz S, Höög A, Wallin G, Larsson C, Zedenius J
Genes Chromosomes Cancer 2001 Sep;32(1):43-9. doi: 10.1002/gcc.1165. PMID: 11477660
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

Clinical prediction guides

Molecular characterisation defines clinically-actionable heterogeneity within Group 4 medulloblastoma and improves disease risk-stratification.
Goddard J, Castle J, Southworth E, Fletcher A, Crosier S, Martin-Guerrero I, García-Ariza M, Navajas A, Masliah-Planchon J, Bourdeaut F, Dufour C, Ayrault O, Goschzik T, Pietsch T, Sill M, Pfister SM, Rutkowski S, Richardson S, Hill RM, Williamson D, Bailey S, Schwalbe EC, Clifford SC, Hicks D
Acta Neuropathol 2023 May;145(5):651-666. Epub 2023 Apr 4 doi: 10.1007/s00401-023-02566-0. PMID: 37014508Free PMC Article
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
Impact of chromosome alterations, genetic mutations and clonal hematopoiesis of indeterminate potential (CHIP) on the classification and risk stratification of MDS.
Ganguly BB, Banerjee D, Agarwal MB
Blood Cells Mol Dis 2018 Mar;69:90-100. Epub 2017 Oct 16 doi: 10.1016/j.bcmd.2017.10.001. PMID: 29079134
Familial acromegaly.
Frohman LA, Eguchi K
Growth Horm IGF Res 2004 Jun;14 Suppl A:S90-6. doi: 10.1016/j.ghir.2004.03.021. PMID: 15135786
Oncogenesis in ovarian cancer.
Børresen AL
Acta Obstet Gynecol Scand Suppl 1992;155:25-30. doi: 10.1111/j.1600-0412.1992.tb00004.x. PMID: 1502889

Recent systematic reviews

Molecular cytogenetic characterization of Sézary syndrome.
Mao X, Lillington DM, Czepulkowski B, Russell-Jones R, Young BD, Whittaker S
Genes Chromosomes Cancer 2003 Mar;36(3):250-60. doi: 10.1002/gcc.10152. PMID: 12557225

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