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Loss of Chromosome 6p

MedGen UID:
274707
•Concept ID:
C1517987
•
Cell or Molecular Dysfunction
Synonym: del(6p)

Definition

A cytogenetic abnormality that refers to the loss of all or part of the short arm of chromosome 6 (6p). [from NCI]

Term Hierarchy

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

Professional guidelines

PubMed

The effects of 3-year growth hormone treatment and body composition in Polish patients with Silver-Russell syndrome.
Świąder-Leśniak A, Jurkiewicz D, Kołodziejczyk H, Kozłowska A, Korpysz A, Szalecki M, Chrzanowska K
Endokrynol Pol 2023;74(3):285-293. Epub 2023 Jun 19 doi: 10.5603/EP.a2023.0042. PMID: 37335065
Preimplantation Genetic Diagnosis (PGD) for Monogenic Disorders: the Value of Concurrent Aneuploidy Screening.
Goldman KN, Nazem T, Berkeley A, Palter S, Grifo JA
J Genet Couns 2016 Dec;25(6):1327-1337. Epub 2016 Jun 9 doi: 10.1007/s10897-016-9975-4. PMID: 27277129
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

Recent clinical studies

Etiology

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 phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review.
Rraku E, Kerstjens-Frederikse WS, Swertz MA, Dijkhuizen T, van Ravenswaaij-Arts CMA, Engwerda A
Orphanet J Rare Dis 2023 Mar 24;18(1):68. doi: 10.1186/s13023-023-02670-0. PMID: 36964621Free PMC Article
Genomic and immune profiling of pre-invasive lung adenocarcinoma.
Chen H, Carrot-Zhang J, Zhao Y, Hu H, Freeman SS, Yu S, Ha G, Taylor AM, Berger AC, Westlake L, Zheng Y, Zhang J, Ramachandran A, Zheng Q, Pan Y, Zheng D, Zheng S, Cheng C, Kuang M, Zhou X, Zhang Y, Li H, Ye T, Ma Y, Gao Z, Tao X, Han H, Shang J, Yu Y, Bao D, Huang Y, Li X, Zhang Y, Xiang J, Sun Y, Li Y, Cherniack AD, Campbell JD, Shi L, Meyerson M
Nat Commun 2019 Nov 29;10(1):5472. doi: 10.1038/s41467-019-13460-3. PMID: 31784532Free PMC Article
Treatment of Stage IV Favorable Histology Wilms Tumor With Lung Metastases: A Report From the Children's Oncology Group AREN0533 Study.
Dix DB, Seibel NL, Chi YY, Khanna G, Gratias E, Anderson JR, Mullen EA, Geller JI, Kalapurakal JA, Paulino AC, Perlman EJ, Ehrlich PF, Malogolowkin M, Gastier-Foster JM, Wagner E, Grundy PE, Fernandez CV, Dome JS
J Clin Oncol 2018 Jun 1;36(16):1564-1570. Epub 2018 Apr 16 doi: 10.1200/JCO.2017.77.1931. PMID: 29659330Free 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

Diagnosis

The predictive value of PNH clones, 6p CN-LOH, and clonal TCR gene rearrangement for aplastic anemia diagnosis.
Shah YB, Priore SF, Li Y, Tang CN, Nicholas P, Kurre P, Olson TS, Babushok DV
Blood Adv 2021 Aug 24;5(16):3216-3226. doi: 10.1182/bloodadvances.2021004201. PMID: 34427585Free PMC Article
Subgroup and subtype-specific outcomes in adult medulloblastoma.
Coltin H, Sundaresan L, Smith KS, Skowron P, Massimi L, Eberhart CG, Schreck KC, Gupta N, Weiss WA, Tirapelli D, Carlotti C, Li KKW, Ryzhova M, Golanov A, Zheludkova O, Absalyamova O, Okonechnikov K, Stichel D, von Deimling A, Giannini C, Raskin S, Van Meir EG, Chan JA, Fults D, Chambless LB, Kim SK, Vasiljevic A, Faure-Conter C, Vibhakar R, Jung S, Leary S, Mora J, McLendon RE, Pollack IF, Hauser P, Grajkowska WA, Rubin JB, van Veelen MC, French PJ, Kros JM, Liau LM, Pfister SM, Kool M, Kijima N, Taylor MD, Packer RJ, Northcott PA, Korshunov A, Ramaswamy V
Acta Neuropathol 2021 Nov;142(5):859-871. Epub 2021 Aug 18 doi: 10.1007/s00401-021-02358-4. PMID: 34409497Free PMC Article
Complex chromosome rearrangement of 6p25.3->p23 and 12q24.32->qter in a child with moyamoya.
Rosenberg RE, Egan M, Rodgers S, Harter D, Burnside RD, Milla S, Pappas J
Pediatrics 2013 Jun;131(6):e1996-2001. Epub 2013 May 27 doi: 10.1542/peds.2012-0749. PMID: 23713105
Molecular biology of colorectal cancer.
Gryfe R, Swallow C, Bapat B, Redston M, Gallinger S, Couture J
Curr Probl Cancer 1997 Sep-Oct;21(5):233-300. doi: 10.1016/s0147-0272(97)80003-7. PMID: 9438104
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

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
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
A comparison of pregnancy outcomes after second-trimester amniocentesis between cases with penetration of the placenta and nonpenetration.
Chaksuwat P, Wanapirak C, Piyamongkol W, Sirichotiyakul S, Tongprasert F, Srisupundit K, Luewan S, Traisrisilp K, Jatavan P, Tongsong T
J Matern Fetal Neonatal Med 2021 Dec;34(23):3883-3888. Epub 2020 Apr 16 doi: 10.1080/14767058.2019.1702017. PMID: 32299277
Cordocentesis-associated fetal loss and risk factors: single-center experience with 6650 cases.
Tanvisut R, Wanapirak C, Piyamongkol W, Sirichotiyakul S, Tongprasert F, Srisupundit K, Luewan S, Traisrisilp K, Jatavan P, Tongsong T
Ultrasound Obstet Gynecol 2020 Nov;56(5):664-671. doi: 10.1002/uog.21980. PMID: 31975486
Treatment of Stage IV Favorable Histology Wilms Tumor With Lung Metastases: A Report From the Children's Oncology Group AREN0533 Study.
Dix DB, Seibel NL, Chi YY, Khanna G, Gratias E, Anderson JR, Mullen EA, Geller JI, Kalapurakal JA, Paulino AC, Perlman EJ, Ehrlich PF, Malogolowkin M, Gastier-Foster JM, Wagner E, Grundy PE, Fernandez CV, Dome JS
J Clin Oncol 2018 Jun 1;36(16):1564-1570. Epub 2018 Apr 16 doi: 10.1200/JCO.2017.77.1931. PMID: 29659330Free PMC Article

Prognosis

Subgroup and subtype-specific outcomes in adult medulloblastoma.
Coltin H, Sundaresan L, Smith KS, Skowron P, Massimi L, Eberhart CG, Schreck KC, Gupta N, Weiss WA, Tirapelli D, Carlotti C, Li KKW, Ryzhova M, Golanov A, Zheludkova O, Absalyamova O, Okonechnikov K, Stichel D, von Deimling A, Giannini C, Raskin S, Van Meir EG, Chan JA, Fults D, Chambless LB, Kim SK, Vasiljevic A, Faure-Conter C, Vibhakar R, Jung S, Leary S, Mora J, McLendon RE, Pollack IF, Hauser P, Grajkowska WA, Rubin JB, van Veelen MC, French PJ, Kros JM, Liau LM, Pfister SM, Kool M, Kijima N, Taylor MD, Packer RJ, Northcott PA, Korshunov A, Ramaswamy V
Acta Neuropathol 2021 Nov;142(5):859-871. Epub 2021 Aug 18 doi: 10.1007/s00401-021-02358-4. PMID: 34409497Free PMC Article
Treatment of Stage IV Favorable Histology Wilms Tumor With Lung Metastases: A Report From the Children's Oncology Group AREN0533 Study.
Dix DB, Seibel NL, Chi YY, Khanna G, Gratias E, Anderson JR, Mullen EA, Geller JI, Kalapurakal JA, Paulino AC, Perlman EJ, Ehrlich PF, Malogolowkin M, Gastier-Foster JM, Wagner E, Grundy PE, Fernandez CV, Dome JS
J Clin Oncol 2018 Jun 1;36(16):1564-1570. Epub 2018 Apr 16 doi: 10.1200/JCO.2017.77.1931. PMID: 29659330Free PMC Article
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
Molecular biology of colorectal cancer.
Gryfe R, Swallow C, Bapat B, Redston M, Gallinger S, Couture J
Curr Probl Cancer 1997 Sep-Oct;21(5):233-300. doi: 10.1016/s0147-0272(97)80003-7. PMID: 9438104

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
The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review.
Rraku E, Kerstjens-Frederikse WS, Swertz MA, Dijkhuizen T, van Ravenswaaij-Arts CMA, Engwerda A
Orphanet J Rare Dis 2023 Mar 24;18(1):68. doi: 10.1186/s13023-023-02670-0. PMID: 36964621Free PMC Article
The predictive value of PNH clones, 6p CN-LOH, and clonal TCR gene rearrangement for aplastic anemia diagnosis.
Shah YB, Priore SF, Li Y, Tang CN, Nicholas P, Kurre P, Olson TS, Babushok DV
Blood Adv 2021 Aug 24;5(16):3216-3226. doi: 10.1182/bloodadvances.2021004201. PMID: 34427585Free PMC Article
Treatment of Stage IV Favorable Histology Wilms Tumor With Lung Metastases: A Report From the Children's Oncology Group AREN0533 Study.
Dix DB, Seibel NL, Chi YY, Khanna G, Gratias E, Anderson JR, Mullen EA, Geller JI, Kalapurakal JA, Paulino AC, Perlman EJ, Ehrlich PF, Malogolowkin M, Gastier-Foster JM, Wagner E, Grundy PE, Fernandez CV, Dome JS
J Clin Oncol 2018 Jun 1;36(16):1564-1570. Epub 2018 Apr 16 doi: 10.1200/JCO.2017.77.1931. PMID: 29659330Free PMC Article
Molecular biology of colorectal cancer.
Gryfe R, Swallow C, Bapat B, Redston M, Gallinger S, Couture J
Curr Probl Cancer 1997 Sep-Oct;21(5):233-300. doi: 10.1016/s0147-0272(97)80003-7. PMID: 9438104

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