U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Cortical iron accumulation in MAPT- and C9orf 72-associated frontotemporal lobar degeneration.
Giannini LAA, Bulk M, Kenkhuis B, Rajicic A, Melhem S, Hegeman-Kleinn I, Bossoni L, Suidgeest E, Dopper EGP, van Swieten JC, van der Weerd L, Seelaar H
Brain Pathol 2023 Jul;33(4):e13158. Epub 2023 Mar 27 doi: 10.1111/bpa.13158. PMID: 36974379Free 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
The evolution of bladder cancer genomics: What have we learned and how can we use it?
Audenet F, Attalla K, Sfakianos JP
Urol Oncol 2018 Jul;36(7):313-320. Epub 2018 Mar 21 doi: 10.1016/j.urolonc.2018.02.017. PMID: 29573965
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

Therapy

Effect of D-mannose on Philadelphia chromosome-positive leukemia cells.
Okabe S, Tanaka Y, Gotoh A
Cancer Biomark 2022;34(3):337-346. doi: 10.3233/CBM-210141. PMID: 35001876
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

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

Supplemental Content

Table of contents

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...