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Partial deletion of chromosome 9

MedGen UID:
1825996
•Concept ID:
C5679653
•
Cell or Molecular Dysfunction
Synonyms: partial deletion of chromosome 9; partial deletion of chromosome type 9; Partial monosomy of chromosome 9; partial monosomy of chromosome 9
 
Monarch Initiative: MONDO:0016874
Orphanet: ORPHA261806

Recent clinical studies

Etiology

Efficacy of ruxolitinib in acute lymphoblastic leukemia: A systematic review.
Kołodrubiec J, Kozłowska M, Irga-Jaworska N, Sędek Ł, Pastorczak A, Trelińska J, Młynarski W
Leuk Res 2022 Oct;121:106925. Epub 2022 Aug 2 doi: 10.1016/j.leukres.2022.106925. PMID: 35939887
p16 overexpression and 9p21 deletion are linked to unfavorable tumor phenotype in breast cancer.
Lebok P, Roming M, Kluth M, Koop C, Özden C, Taskin B, Hussein K, Lebeau A, Witzel I, Wölber L, Geist S, Paluchowski P, Wilke C, Heilenkötter U, Müller V, Schmalfeldt B, Simon R, Sauter G, Terracciano L, Krech RH, von der Assen A, Burandt E
Oncotarget 2016 Dec 6;7(49):81322-81331. doi: 10.18632/oncotarget.13227. PMID: 27835607Free PMC Article
9p partial monosomy and disorders of sex development: review and postulation of a pathogenetic mechanism.
Quinonez SC, Park JM, Rabah R, Owens KM, Yashar BM, Glover TW, Keegan CE
Am J Med Genet A 2013 Aug;161A(8):1882-96. Epub 2013 Jul 3 doi: 10.1002/ajmg.a.36018. PMID: 23824832
Aneuploidy of chromosome 9 and the tumor suppressor genes p16(INK4) and p15(INK4B) detected by in situ hybridization in locally advanced prostate cancer.
Heidenreich B, Heidenreich A, Sesterhenn A, Srivastava S, Moul JW, Sesterhenn IA
Eur Urol 2000 Oct;38(4):475-82. doi: 10.1159/000020327. PMID: 11025389
Increasing complexity of the karyotype in 50 human gliomas. Progressive evolution and de novo occurrence of cytogenetic alterations.
Magnani I, Guerneri S, Pollo B, Cirenei N, Colombo BM, Broggi G, Galli C, Bugiani O, DiDonato S, Finocchiaro G
Cancer Genet Cytogenet 1994 Jul 15;75(2):77-89. doi: 10.1016/0165-4608(94)90157-0. PMID: 8055485

Diagnosis

Partial trisomy 9p and partial monosomy 7p of an infant inherited from maternal balanced translocation: a case report.
Li R, Wang C, Zhang Z, Li D, Li L, Zhao D, Xu Z
BMC Pediatr 2023 Apr 13;23(1):168. doi: 10.1186/s12887-023-03986-3. PMID: 37046298Free PMC Article
9p partial monosomy and disorders of sex development: review and postulation of a pathogenetic mechanism.
Quinonez SC, Park JM, Rabah R, Owens KM, Yashar BM, Glover TW, Keegan CE
Am J Med Genet A 2013 Aug;161A(8):1882-96. Epub 2013 Jul 3 doi: 10.1002/ajmg.a.36018. PMID: 23824832
Studies of genomic imbalances and the MYB-NFIB gene fusion in polymorphous low-grade adenocarcinoma of the head and neck.
Persson F, Fehr A, Sundelin K, Schulte B, Löning T, Stenman G
Int J Oncol 2012 Jan;40(1):80-4. Epub 2011 Sep 7 doi: 10.3892/ijo.2011.1190. PMID: 21901247
Karyotype and molecular cytogenetic studies in polycythemia vera.
Andrieux JL, Demory JL
Curr Hematol Rep 2005 May;4(3):224-9. PMID: 15865876
MTAP gene deletion in endometrial cancer.
Wong YF, Chung TK, Cheung TH, Nobori T, Chang AM
Gynecol Obstet Invest 1998;45(4):272-6. doi: 10.1159/000009983. PMID: 9623796

Therapy

A case report of a truncated ABL1 mutation in 2 cases with Philadelphia chromosome-positive B cell precursor acute lymphoblastic leukemia.
Kato K, Takagi S, Takano H, Tsunoda S, Watanabe O, Yamaguchi K, Kageyama K, Kaji D, Taya Y, Nishida A, Ishiwata K, Yamamoto H, Yamamoto G, Asano-Mori Y, Koike Y, Makino S, Wake A, Taniguchi S, Uchida N
Int J Hematol 2024 Feb;119(2):205-209. Epub 2024 Jan 18 doi: 10.1007/s12185-023-03691-y. PMID: 38236369
Loss at 12p detected by comparative genomic hybridization (CGH): association with TEL-AML1 fusion and favorable prognostic features in childhood acute lymphoblastic leukemia (ALL). A multi-institutional study.
Kanerva J, Niini T, Vettenranta K, Riikonen P, Mäkipernaa A, Karhu R, Knuutila S, Saarinen-Pihkala UM
Med Pediatr Oncol 2001 Nov;37(5):419-25. doi: 10.1002/mpo.1224. PMID: 11745869
Collaborative study of karyotypes in childhood acute lymphoblastic leukemias. Groupe Français de Cytogénétique Hématologique.
Leukemia 1993 Jan;7(1):10-9. PMID: 8418369
Localization of preferential sites of rearrangement within the BCR gene in Philadelphia chromosome-positive acute lymphoblastic leukemia.
Denny CT, Shah NP, Ogden S, Willman C, McConnell T, Crist W, Carroll A, Witte ON
Proc Natl Acad Sci U S A 1989 Jun;86(11):4254-8. doi: 10.1073/pnas.86.11.4254. PMID: 2567002Free PMC Article

Prognosis

p16 overexpression and 9p21 deletion are linked to unfavorable tumor phenotype in breast cancer.
Lebok P, Roming M, Kluth M, Koop C, Özden C, Taskin B, Hussein K, Lebeau A, Witzel I, Wölber L, Geist S, Paluchowski P, Wilke C, Heilenkötter U, Müller V, Schmalfeldt B, Simon R, Sauter G, Terracciano L, Krech RH, von der Assen A, Burandt E
Oncotarget 2016 Dec 6;7(49):81322-81331. doi: 10.18632/oncotarget.13227. PMID: 27835607Free PMC Article
A pericentric inv(9)(p22q34) of the der(9)t(9;22)(q34;q11.2) is a recurrent secondary anomaly in Ph-positive leukemia.
Pan J, Xue Y, Qiu H, Chen S, Zhang J, Wu Y, Shen J, Wang Y
Cancer Genet Cytogenet 2010 Dec;203(2):333-40. doi: 10.1016/j.cancergencyto.2010.05.009. PMID: 21156255
Tumor suppressor loci in bladder cancer.
Knowles MA
Front Biosci 2007 Jan 1;12:2233-51. doi: 10.2741/2226. PMID: 17127460
Karyotype and molecular cytogenetic studies in polycythemia vera.
Andrieux JL, Demory JL
Curr Hematol Rep 2005 May;4(3):224-9. PMID: 15865876
Abnormalities of the short arm of chromosome 9 with partial loss of material in hematological disorders.
Pollak C, Hagemeijer A
Leukemia 1987 Jul;1(7):541-8. PMID: 3312844

Clinical prediction guides

Efficacy of ruxolitinib in acute lymphoblastic leukemia: A systematic review.
Kołodrubiec J, Kozłowska M, Irga-Jaworska N, Sędek Ł, Pastorczak A, Trelińska J, Młynarski W
Leuk Res 2022 Oct;121:106925. Epub 2022 Aug 2 doi: 10.1016/j.leukres.2022.106925. PMID: 35939887
Tumor suppressor loci in bladder cancer.
Knowles MA
Front Biosci 2007 Jan 1;12:2233-51. doi: 10.2741/2226. PMID: 17127460
Codeletion of CDKN2 and MTAP genes in a subset of non-Hodgkin's lymphoma may be associated with histologic transformation from low-grade to diffuse large-cell lymphoma.
Dreyling MH, Roulston D, Bohlander SK, Vardiman J, Olopade OI
Genes Chromosomes Cancer 1998 May;22(1):72-8. PMID: 9591637
Partial allelotype of carcinoma in situ of the human bladder.
Rosin MP, Cairns P, Epstein JI, Schoenberg MP, Sidransky D
Cancer Res 1995 Nov 15;55(22):5213-6. PMID: 7585577
Molecular analysis of deletions of the short arm of chromosome 9 in human gliomas.
Olopade OI, Jenkins RB, Ransom DT, Malik K, Pomykala H, Nobori T, Cowan JM, Rowley JD, Diaz MO
Cancer Res 1992 May 1;52(9):2523-9. PMID: 1568221

Recent systematic reviews

Efficacy of ruxolitinib in acute lymphoblastic leukemia: A systematic review.
Kołodrubiec J, Kozłowska M, Irga-Jaworska N, Sędek Ł, Pastorczak A, Trelińska J, Młynarski W
Leuk Res 2022 Oct;121:106925. Epub 2022 Aug 2 doi: 10.1016/j.leukres.2022.106925. PMID: 35939887

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