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Gain of Chromosome 6p

MedGen UID:
309198
•Concept ID:
C1517415
•
Cell or Molecular Dysfunction

Definition

A chromosomal abnormality that refers to the gain of genetic material in the short arm of chromosome 6. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGain of Chromosome 6p

Professional guidelines

PubMed

Genetic findings in treatment-naïve and proton-beam-radiated iris melanomas.
Krishna Y, Kalirai H, Thornton S, Damato BE, Heimann H, Coupland SE
Br J Ophthalmol 2016 Jul;100(7):1012-1016. Epub 2016 Apr 20 doi: 10.1136/bjophthalmol-2015-308301. PMID: 27098748
Long-Term Results of GH Treatment in Silver-Russell Syndrome (SRS): Do They Benefit the Same as Non-SRS Short-SGA?
Smeets CC, Zandwijken GR, Renes JS, Hokken-Koelega AC
J Clin Endocrinol Metab 2016 May;101(5):2105-12. Epub 2016 Mar 23 doi: 10.1210/jc.2015-4273. PMID: 27007691
Chromosomal gains and losses in primary colorectal carcinomas detected by CGH and their associations with tumour DNA ploidy, genotypes and phenotypes.
De Angelis PM, Clausen OP, Schjølberg A, Stokke T
Br J Cancer 1999 May;80(3-4):526-35. doi: 10.1038/sj.bjc.6690388. PMID: 10408863Free PMC Article

Recent clinical studies

Etiology

Interdependence of Molecular Lesions That Drive Uveal Melanoma Metastasis.
Reggiani F, Ambrosio M, Croce M, Tanda ET, Spagnolo F, Raposio E, Petito M, El Rashed Z, Forlani A, Pfeffer U, Amaro AA
Int J Mol Sci 2023 Oct 26;24(21) doi: 10.3390/ijms242115602. PMID: 37958591Free PMC Article
Impact of Aneuploidy and Chromosome 9p Loss on Tumor Immune Microenvironment and Immune Checkpoint Inhibitor Efficacy in NSCLC.
Alessi JV, Wang X, Elkrief A, Ricciuti B, Li YY, Gupta H, Spurr LF, Rizvi H, Luo J, Pecci F, Lamberti G, Recondo G, Venkatraman D, Di Federico A, Gandhi MM, Vaz VR, Nishino M, Sholl LM, Cherniack AD, Ladanyi M, Price A, Richards AL, Donoghue M, Lindsay J, Sharma B, Turner MM, Pfaff KL, Felt KD, Rodig SJ, Lin X, Meyerson ML, Johnson BE, Christiani DC, Schoenfeld AJ, Awad MM
J Thorac Oncol 2023 Nov;18(11):1524-1537. Epub 2023 May 27 doi: 10.1016/j.jtho.2023.05.019. PMID: 37247843Free PMC Article
Chromosome 6p amplification detected in blood cell-free DNA in advanced intraocular retinoblastoma.
Sirivolu S, Xu L, Warren M, Prabakar RK, Shah R, Kuhn P, Hicks J, Berry JL
Ophthalmic Genet 2022 Dec;43(6):866-870. Epub 2022 Nov 7 doi: 10.1080/13816810.2022.2142246. PMID: 36342106Free PMC Article
Genetic prognostication in uveal melanoma.
Dogrusöz M, Jager MJ
Acta Ophthalmol 2018 Jun;96(4):331-347. Epub 2017 Nov 4 doi: 10.1111/aos.13580. PMID: 29105334
Genetic determinants of uveal melanoma.
Couturier J, Saule S
Dev Ophthalmol 2012;49:150-165. Epub 2011 Oct 21 doi: 10.1159/000328270. PMID: 22042019

Diagnosis

Outcome of Multiple Myeloma with Chromosome 1q Gain and 1p Deletion after Autologous Hematopoietic Stem Cell Transplantation: Propensity Score Matched Analysis.
Varma A, Sui D, Milton DR, Tang G, Saini N, Hasan O, Mukherjee A, Joseph JJ, Bashir Q, Rondon G, Srour S, Popat UR, Hosing CM, Nieto Y, Kebriaei P, Alousi AM, Ahmed S, Mehta R, Khouri IF, Ahmed H, Iyer S, Weber DM, Thomas SK, Manasanch E, Lee HC, Patel K, Ciurea SO, Shpall EJ, Orlowski RZ, Champlin RE, Qazilbash MH
Biol Blood Marrow Transplant 2020 Apr;26(4):665-671. Epub 2019 Dec 24 doi: 10.1016/j.bbmt.2019.12.726. PMID: 31881283Free PMC Article
Genetic prognostication in uveal melanoma.
Dogrusöz M, Jager MJ
Acta Ophthalmol 2018 Jun;96(4):331-347. Epub 2017 Nov 4 doi: 10.1111/aos.13580. PMID: 29105334
Molecular Characteristics of Conjunctival Melanoma Using Whole-Exome Sequencing.
Swaminathan SS, Field MG, Sant D, Wang G, Galor A, Dubovy SR, Harbour JW, Karp CL
JAMA Ophthalmol 2017 Dec 1;135(12):1434-1437. doi: 10.1001/jamaophthalmol.2017.4837. PMID: 29121185Free PMC Article
Gain of chromosome 3 and loss of 13q are frequent alterations in pituitary adenomas.
Fan X, Paetau A, Aalto Y, Välimäki M, Sane T, Poranen A, Castresana JS, Knuutila S
Cancer Genet Cytogenet 2001 Jul 15;128(2):97-103. doi: 10.1016/s0165-4608(01)00398-3. PMID: 11463446
Cytogenetic analysis in the examination of solid tumors in children.
Mertens F, Mandahl N, Mitelman F, Heim S
Pediatr Hematol Oncol 1994 Jul-Aug;11(4):361-77. doi: 10.3109/08880019409140536. PMID: 7947009

Therapy

Interdependence of Molecular Lesions That Drive Uveal Melanoma Metastasis.
Reggiani F, Ambrosio M, Croce M, Tanda ET, Spagnolo F, Raposio E, Petito M, El Rashed Z, Forlani A, Pfeffer U, Amaro AA
Int J Mol Sci 2023 Oct 26;24(21) doi: 10.3390/ijms242115602. PMID: 37958591Free PMC Article
Impact of Aneuploidy and Chromosome 9p Loss on Tumor Immune Microenvironment and Immune Checkpoint Inhibitor Efficacy in NSCLC.
Alessi JV, Wang X, Elkrief A, Ricciuti B, Li YY, Gupta H, Spurr LF, Rizvi H, Luo J, Pecci F, Lamberti G, Recondo G, Venkatraman D, Di Federico A, Gandhi MM, Vaz VR, Nishino M, Sholl LM, Cherniack AD, Ladanyi M, Price A, Richards AL, Donoghue M, Lindsay J, Sharma B, Turner MM, Pfaff KL, Felt KD, Rodig SJ, Lin X, Meyerson ML, Johnson BE, Christiani DC, Schoenfeld AJ, Awad MM
J Thorac Oncol 2023 Nov;18(11):1524-1537. Epub 2023 May 27 doi: 10.1016/j.jtho.2023.05.019. PMID: 37247843Free PMC Article
The Importance of FISH Signal Cut-off Value and Copy Number Variation for 1q21 in Newly Diagnosed Multiple Myeloma: Is it Underestimated?
Gao L, Liu Y, Li Y, Feng L, Wang Z, Wen L, Wang F, Huang X, Lu J, Lai Y
Clin Lymphoma Myeloma Leuk 2022 Jul;22(7):535-544. Epub 2022 Jan 31 doi: 10.1016/j.clml.2022.01.013. PMID: 35292207
Subtype-specific signaling pathways and genomic aberrations associated with prognosis of glioblastoma.
Park AK, Kim P, Ballester LY, Esquenazi Y, Zhao Z
Neuro Oncol 2019 Jan 1;21(1):59-70. doi: 10.1093/neuonc/noy120. PMID: 30053126Free PMC Article
Genetic prognostication in uveal melanoma.
Dogrusöz M, Jager MJ
Acta Ophthalmol 2018 Jun;96(4):331-347. Epub 2017 Nov 4 doi: 10.1111/aos.13580. PMID: 29105334

Prognosis

Genomic Determinants of Early Recurrences in Low-Stage, Low-Grade Endometrioid Endometrial Carcinoma.
Safdar NS, Stasenko M, Selenica P, Martin AS, da Silva EM, Sebastiao APM, Krystel-Whittemore M, Abu-Rustum NR, Reis-Filho JS, Soslow RA, Shen R, Mueller JJ, Oliva E, Weigelt B
J Natl Cancer Inst 2022 Nov 14;114(11):1545-1548. doi: 10.1093/jnci/djac119. PMID: 35699480Free PMC Article
Subtype-specific signaling pathways and genomic aberrations associated with prognosis of glioblastoma.
Park AK, Kim P, Ballester LY, Esquenazi Y, Zhao Z
Neuro Oncol 2019 Jan 1;21(1):59-70. doi: 10.1093/neuonc/noy120. PMID: 30053126Free PMC Article
Genetic prognostication in uveal melanoma.
Dogrusöz M, Jager MJ
Acta Ophthalmol 2018 Jun;96(4):331-347. Epub 2017 Nov 4 doi: 10.1111/aos.13580. PMID: 29105334
Molecular pathology of uveal melanoma.
Coupland SE, Lake SL, Zeschnigk M, Damato BE
Eye (Lond) 2013 Feb;27(2):230-42. Epub 2012 Dec 7 doi: 10.1038/eye.2012.255. PMID: 23222563Free PMC Article
Genetic determinants of uveal melanoma.
Couturier J, Saule S
Dev Ophthalmol 2012;49:150-165. Epub 2011 Oct 21 doi: 10.1159/000328270. PMID: 22042019

Clinical prediction guides

Impact of Aneuploidy and Chromosome 9p Loss on Tumor Immune Microenvironment and Immune Checkpoint Inhibitor Efficacy in NSCLC.
Alessi JV, Wang X, Elkrief A, Ricciuti B, Li YY, Gupta H, Spurr LF, Rizvi H, Luo J, Pecci F, Lamberti G, Recondo G, Venkatraman D, Di Federico A, Gandhi MM, Vaz VR, Nishino M, Sholl LM, Cherniack AD, Ladanyi M, Price A, Richards AL, Donoghue M, Lindsay J, Sharma B, Turner MM, Pfaff KL, Felt KD, Rodig SJ, Lin X, Meyerson ML, Johnson BE, Christiani DC, Schoenfeld AJ, Awad MM
J Thorac Oncol 2023 Nov;18(11):1524-1537. Epub 2023 May 27 doi: 10.1016/j.jtho.2023.05.019. PMID: 37247843Free PMC Article
Genomic Determinants of Early Recurrences in Low-Stage, Low-Grade Endometrioid Endometrial Carcinoma.
Safdar NS, Stasenko M, Selenica P, Martin AS, da Silva EM, Sebastiao APM, Krystel-Whittemore M, Abu-Rustum NR, Reis-Filho JS, Soslow RA, Shen R, Mueller JJ, Oliva E, Weigelt B
J Natl Cancer Inst 2022 Nov 14;114(11):1545-1548. doi: 10.1093/jnci/djac119. PMID: 35699480Free PMC Article
Outcome of Multiple Myeloma with Chromosome 1q Gain and 1p Deletion after Autologous Hematopoietic Stem Cell Transplantation: Propensity Score Matched Analysis.
Varma A, Sui D, Milton DR, Tang G, Saini N, Hasan O, Mukherjee A, Joseph JJ, Bashir Q, Rondon G, Srour S, Popat UR, Hosing CM, Nieto Y, Kebriaei P, Alousi AM, Ahmed S, Mehta R, Khouri IF, Ahmed H, Iyer S, Weber DM, Thomas SK, Manasanch E, Lee HC, Patel K, Ciurea SO, Shpall EJ, Orlowski RZ, Champlin RE, Qazilbash MH
Biol Blood Marrow Transplant 2020 Apr;26(4):665-671. Epub 2019 Dec 24 doi: 10.1016/j.bbmt.2019.12.726. PMID: 31881283Free PMC Article
ALK gene copy number gain and its clinical significance in hepatocellular carcinoma.
Jia SW, Fu S, Wang F, Shao Q, Huang HB, Shao JY
World J Gastroenterol 2014 Jan 7;20(1):183-92. doi: 10.3748/wjg.v20.i1.183. PMID: 24415871Free PMC Article
Cytogenetic analysis in the examination of solid tumors in children.
Mertens F, Mandahl N, Mitelman F, Heim S
Pediatr Hematol Oncol 1994 Jul-Aug;11(4):361-77. doi: 10.3109/08880019409140536. PMID: 7947009

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