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Loss of Chromosome 9

MedGen UID:
276489
•Concept ID:
C1517993
•
Cell or Molecular Dysfunction
Synonym: del(9)

Definition

A cytogenic abnormality that refers to loss of all or part of chromosome 9. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLoss of Chromosome 9

Professional guidelines

PubMed

Preimplantation genetic testing for aneuploidy (PGT-A)-a single-center experience.
Nair J, Shetty S, Kasi CI, Thondehalmath N, Ganesh D, Bhat VR, Mannadia S, Ranganath A, Nayak R, Gunasheela D, Shetty S
J Assist Reprod Genet 2022 Mar;39(3):729-738. Epub 2022 Feb 4 doi: 10.1007/s10815-022-02413-3. PMID: 35119550Free PMC Article
Absence of heterozygosity detected by single-nucleotide polymorphism array in prenatal diagnosis.
Liu J, He Z, Lin S, Wang Y, Huang L, Huang X, Luo Y
Ultrasound Obstet Gynecol 2021 Feb;57(2):314-323. Epub 2021 Jan 7 doi: 10.1002/uog.21951. PMID: 31840905
Molecular targeting and pharmacogenomics in the management of advanced bladder cancer.
Raghavan D
Cancer 2003 Apr 15;97(8 Suppl):2083-9. doi: 10.1002/cncr.11281. PMID: 12673700

Recent clinical studies

Etiology

Meta-analysis of tumor- and T cell-intrinsic mechanisms of sensitization to checkpoint inhibition.
Litchfield K, Reading JL, Puttick C, Thakkar K, Abbosh C, Bentham R, Watkins TBK, Rosenthal R, Biswas D, Rowan A, Lim E, Al Bakir M, Turati V, Guerra-Assunção JA, Conde L, Furness AJS, Saini SK, Hadrup SR, Herrero J, Lee SH, Van Loo P, Enver T, Larkin J, Hellmann MD, Turajlic S, Quezada SA, McGranahan N, Swanton C
Cell 2021 Feb 4;184(3):596-614.e14. Epub 2021 Jan 27 doi: 10.1016/j.cell.2021.01.002. PMID: 33508232Free PMC Article
Tracking Cancer Evolution Reveals Constrained Routes to Metastases: TRACERx Renal.
Turajlic S, Xu H, Litchfield K, Rowan A, Chambers T, Lopez JI, Nicol D, O'Brien T, Larkin J, Horswell S, Stares M, Au L, Jamal-Hanjani M, Challacombe B, Chandra A, Hazell S, Eichler-Jonsson C, Soultati A, Chowdhury S, Rudman S, Lynch J, Fernando A, Stamp G, Nye E, Jabbar F, Spain L, Lall S, Guarch R, Falzon M, Proctor I, Pickering L, Gore M, Watkins TBK, Ward S, Stewart A, DiNatale R, Becerra MF, Reznik E, Hsieh JJ, Richmond TA, Mayhew GF, Hill SM, McNally CD, Jones C, Rosenbaum H, Stanislaw S, Burgess DL, Alexander NR, Swanton C; PEACE; TRACERx Renal Consortium
Cell 2018 Apr 19;173(3):581-594.e12. Epub 2018 Apr 12 doi: 10.1016/j.cell.2018.03.057. PMID: 29656895Free PMC Article
Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder.
Koemans TS, Kleefstra T, Chubak MC, Stone MH, Reijnders MRF, de Munnik S, Willemsen MH, Fenckova M, Stumpel CTRM, Bok LA, Sifuentes Saenz M, Byerly KA, Baughn LB, Stegmann APA, Pfundt R, Zhou H, van Bokhoven H, Schenck A, Kramer JM
PLoS Genet 2017 Oct;13(10):e1006864. Epub 2017 Oct 25 doi: 10.1371/journal.pgen.1006864. PMID: 29069077Free PMC Article
Chronic myelogenous leukemia.
D'Antonio J
Clin J Oncol Nurs 2005 Oct;9(5):535-8. doi: 10.1188/05.CJON.535-538. PMID: 16235580
Bladder cancer.
Ozen H
Curr Opin Oncol 1998 May;10(3):273-8. PMID: 9619365

Diagnosis

Germline CHEK2 and ATM Variants in Myeloid and Other Hematopoietic Malignancies.
Stubbins RJ, Korotev S, Godley LA
Curr Hematol Malig Rep 2022 Aug;17(4):94-104. Epub 2022 Jun 8 doi: 10.1007/s11899-022-00663-7. PMID: 35674998
Meta-analysis of tumor- and T cell-intrinsic mechanisms of sensitization to checkpoint inhibition.
Litchfield K, Reading JL, Puttick C, Thakkar K, Abbosh C, Bentham R, Watkins TBK, Rosenthal R, Biswas D, Rowan A, Lim E, Al Bakir M, Turati V, Guerra-Assunção JA, Conde L, Furness AJS, Saini SK, Hadrup SR, Herrero J, Lee SH, Van Loo P, Enver T, Larkin J, Hellmann MD, Turajlic S, Quezada SA, McGranahan N, Swanton C
Cell 2021 Feb 4;184(3):596-614.e14. Epub 2021 Jan 27 doi: 10.1016/j.cell.2021.01.002. PMID: 33508232Free PMC Article
Chronic myelogenous leukemia.
D'Antonio J
Clin J Oncol Nurs 2005 Oct;9(5):535-8. doi: 10.1188/05.CJON.535-538. PMID: 16235580
Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders.
Baxter EJ, Scott LM, Campbell PJ, East C, Fourouclas N, Swanton S, Vassiliou GS, Bench AJ, Boyd EM, Curtin N, Scott MA, Erber WN, Green AR; Cancer Genome Project
Lancet 2005 Mar 19-25;365(9464):1054-61. doi: 10.1016/S0140-6736(05)71142-9. PMID: 15781101
Molecular mechanisms of cancer.
Koeffler HP, McCormick F, Denny C
West J Med 1991 Nov;155(5):505-14. PMID: 1815390Free PMC Article

Therapy

9p21 loss confers a cold tumor immune microenvironment and primary resistance to immune checkpoint therapy.
Han G, Yang G, Hao D, Lu Y, Thein K, Simpson BS, Chen J, Sun R, Alhalabi O, Wang R, Dang M, Dai E, Zhang S, Nie F, Zhao S, Guo C, Hamza A, Czerniak B, Cheng C, Siefker-Radtke A, Bhat K, Futreal A, Peng G, Wargo J, Peng W, Kadara H, Ajani J, Swanton C, Litchfield K, Ahnert JR, Gao J, Wang L
Nat Commun 2021 Sep 23;12(1):5606. doi: 10.1038/s41467-021-25894-9. PMID: 34556668Free PMC Article
C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia: gain or loss of function?
Mizielinska S, Isaacs AM
Curr Opin Neurol 2014 Oct;27(5):515-23. doi: 10.1097/WCO.0000000000000130. PMID: 25188012Free PMC Article
Chronic myelogenous leukemia.
D'Antonio J
Clin J Oncol Nurs 2005 Oct;9(5):535-8. doi: 10.1188/05.CJON.535-538. PMID: 16235580
Bladder cancer.
Ozen H
Curr Opin Oncol 1998 May;10(3):273-8. PMID: 9619365
Near-triploid Ph-positive leukemia.
Ohtaki K, Abe R, Tebbi CK, de los Santos R, Han T, Sandberg AA
Cancer Genet Cytogenet 1985 Oct;18(2):113-21. doi: 10.1016/0165-4608(85)90061-5. PMID: 3863695

Prognosis

9p21 loss confers a cold tumor immune microenvironment and primary resistance to immune checkpoint therapy.
Han G, Yang G, Hao D, Lu Y, Thein K, Simpson BS, Chen J, Sun R, Alhalabi O, Wang R, Dang M, Dai E, Zhang S, Nie F, Zhao S, Guo C, Hamza A, Czerniak B, Cheng C, Siefker-Radtke A, Bhat K, Futreal A, Peng G, Wargo J, Peng W, Kadara H, Ajani J, Swanton C, Litchfield K, Ahnert JR, Gao J, Wang L
Nat Commun 2021 Sep 23;12(1):5606. doi: 10.1038/s41467-021-25894-9. PMID: 34556668Free PMC Article
Meta-analysis of tumor- and T cell-intrinsic mechanisms of sensitization to checkpoint inhibition.
Litchfield K, Reading JL, Puttick C, Thakkar K, Abbosh C, Bentham R, Watkins TBK, Rosenthal R, Biswas D, Rowan A, Lim E, Al Bakir M, Turati V, Guerra-Assunção JA, Conde L, Furness AJS, Saini SK, Hadrup SR, Herrero J, Lee SH, Van Loo P, Enver T, Larkin J, Hellmann MD, Turajlic S, Quezada SA, McGranahan N, Swanton C
Cell 2021 Feb 4;184(3):596-614.e14. Epub 2021 Jan 27 doi: 10.1016/j.cell.2021.01.002. PMID: 33508232Free PMC Article
Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder.
Koemans TS, Kleefstra T, Chubak MC, Stone MH, Reijnders MRF, de Munnik S, Willemsen MH, Fenckova M, Stumpel CTRM, Bok LA, Sifuentes Saenz M, Byerly KA, Baughn LB, Stegmann APA, Pfundt R, Zhou H, van Bokhoven H, Schenck A, Kramer JM
PLoS Genet 2017 Oct;13(10):e1006864. Epub 2017 Oct 25 doi: 10.1371/journal.pgen.1006864. PMID: 29069077Free PMC Article
Chronic myelogenous leukemia.
D'Antonio J
Clin J Oncol Nurs 2005 Oct;9(5):535-8. doi: 10.1188/05.CJON.535-538. PMID: 16235580
Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders.
Baxter EJ, Scott LM, Campbell PJ, East C, Fourouclas N, Swanton S, Vassiliou GS, Bench AJ, Boyd EM, Curtin N, Scott MA, Erber WN, Green AR; Cancer Genome Project
Lancet 2005 Mar 19-25;365(9464):1054-61. doi: 10.1016/S0140-6736(05)71142-9. PMID: 15781101

Clinical prediction guides

9p21 loss confers a cold tumor immune microenvironment and primary resistance to immune checkpoint therapy.
Han G, Yang G, Hao D, Lu Y, Thein K, Simpson BS, Chen J, Sun R, Alhalabi O, Wang R, Dang M, Dai E, Zhang S, Nie F, Zhao S, Guo C, Hamza A, Czerniak B, Cheng C, Siefker-Radtke A, Bhat K, Futreal A, Peng G, Wargo J, Peng W, Kadara H, Ajani J, Swanton C, Litchfield K, Ahnert JR, Gao J, Wang L
Nat Commun 2021 Sep 23;12(1):5606. doi: 10.1038/s41467-021-25894-9. PMID: 34556668Free PMC Article
Meta-analysis of tumor- and T cell-intrinsic mechanisms of sensitization to checkpoint inhibition.
Litchfield K, Reading JL, Puttick C, Thakkar K, Abbosh C, Bentham R, Watkins TBK, Rosenthal R, Biswas D, Rowan A, Lim E, Al Bakir M, Turati V, Guerra-Assunção JA, Conde L, Furness AJS, Saini SK, Hadrup SR, Herrero J, Lee SH, Van Loo P, Enver T, Larkin J, Hellmann MD, Turajlic S, Quezada SA, McGranahan N, Swanton C
Cell 2021 Feb 4;184(3):596-614.e14. Epub 2021 Jan 27 doi: 10.1016/j.cell.2021.01.002. PMID: 33508232Free PMC Article
Tracking Cancer Evolution Reveals Constrained Routes to Metastases: TRACERx Renal.
Turajlic S, Xu H, Litchfield K, Rowan A, Chambers T, Lopez JI, Nicol D, O'Brien T, Larkin J, Horswell S, Stares M, Au L, Jamal-Hanjani M, Challacombe B, Chandra A, Hazell S, Eichler-Jonsson C, Soultati A, Chowdhury S, Rudman S, Lynch J, Fernando A, Stamp G, Nye E, Jabbar F, Spain L, Lall S, Guarch R, Falzon M, Proctor I, Pickering L, Gore M, Watkins TBK, Ward S, Stewart A, DiNatale R, Becerra MF, Reznik E, Hsieh JJ, Richmond TA, Mayhew GF, Hill SM, McNally CD, Jones C, Rosenbaum H, Stanislaw S, Burgess DL, Alexander NR, Swanton C; PEACE; TRACERx Renal Consortium
Cell 2018 Apr 19;173(3):581-594.e12. Epub 2018 Apr 12 doi: 10.1016/j.cell.2018.03.057. PMID: 29656895Free PMC Article
Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder.
Koemans TS, Kleefstra T, Chubak MC, Stone MH, Reijnders MRF, de Munnik S, Willemsen MH, Fenckova M, Stumpel CTRM, Bok LA, Sifuentes Saenz M, Byerly KA, Baughn LB, Stegmann APA, Pfundt R, Zhou H, van Bokhoven H, Schenck A, Kramer JM
PLoS Genet 2017 Oct;13(10):e1006864. Epub 2017 Oct 25 doi: 10.1371/journal.pgen.1006864. PMID: 29069077Free PMC Article
Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders.
Baxter EJ, Scott LM, Campbell PJ, East C, Fourouclas N, Swanton S, Vassiliou GS, Bench AJ, Boyd EM, Curtin N, Scott MA, Erber WN, Green AR; Cancer Genome Project
Lancet 2005 Mar 19-25;365(9464):1054-61. doi: 10.1016/S0140-6736(05)71142-9. PMID: 15781101

Recent systematic reviews

Chromosome 9 Inversion: Pathogenic or Benign? A Comprehensive Systematic Review of all Clinical Reports.
Mohsen-Pour N, Talebi T, Naderi N, Moghadam MH, Maleki M, Kalayinia S
Curr Mol Med 2022;22(5):385-400. doi: 10.2174/1566524021666210806161128. PMID: 34365947

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