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Polysomy

MedGen UID:
269463
•Concept ID:
C1514212
•
Cell or Molecular Dysfunction

Definition

The condition of having additional copies of a chromosome present in a cell. [from NCI]

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
Primary Sclerosing Cholangitis as a Premalignant Biliary Tract Disease: Surveillance and Management.
Ilyas SI, Eaton JE, Gores GJ
Clin Gastroenterol Hepatol 2015 Nov;13(12):2152-65. Epub 2015 Jun 5 doi: 10.1016/j.cgh.2015.05.035. PMID: 26051390Free PMC Article
Classification, diagnosis, and management of cholangiocarcinoma.
Razumilava N, Gores GJ
Clin Gastroenterol Hepatol 2013 Jan;11(1):13-21.e1; quiz e3-4. Epub 2012 Sep 13 doi: 10.1016/j.cgh.2012.09.009. PMID: 22982100Free PMC Article

Recent clinical studies

Etiology

Clinical, radiological and genomic features and targeted therapy in BRAF V600E mutant adult glioblastoma.
Lim-Fat MJ, Song KW, Iorgulescu JB, Andersen BM, Forst DA, Jordan JT, Gerstner ER, Reardon DA, Wen PY, Arrillaga-Romany I
J Neurooncol 2021 May;152(3):515-522. Epub 2021 Mar 1 doi: 10.1007/s11060-021-03719-5. PMID: 33646525Free PMC Article
Role of Genomic Alterations in HER2 Positive Breast Carcinoma: Focus on Susceptibility and Trastuzumab-therapy.
Singla H, Kalra S, Kheterpal P, Kumar V, Munshi A
Curr Cancer Drug Targets 2017;17(4):344-356. doi: 10.2174/1568009616666161216094026. PMID: 27993117
Primary Sclerosing Cholangitis as a Premalignant Biliary Tract Disease: Surveillance and Management.
Ilyas SI, Eaton JE, Gores GJ
Clin Gastroenterol Hepatol 2015 Nov;13(12):2152-65. Epub 2015 Jun 5 doi: 10.1016/j.cgh.2015.05.035. PMID: 26051390Free PMC Article
Recall processes for biliary cytology in primary sclerosing cholangitis.
Eaton JE, Gossard AA, Talwalkar JA
Curr Opin Gastroenterol 2014 May;30(3):287-94. doi: 10.1097/MOG.0000000000000055. PMID: 24686433
Oral premalignant lesions: any progress with systemic therapies?
William WN Jr
Curr Opin Oncol 2012 May;24(3):205-10. doi: 10.1097/CCO.0b013e32835091bd. PMID: 22273549

Diagnosis

Genomic Landscape of Mixed-Phenotype Acute Leukemia.
Hennawi M, Pakasticali N, Tashkandi H, Hussaini M
Int J Mol Sci 2022 Sep 24;23(19) doi: 10.3390/ijms231911259. PMID: 36232559Free PMC Article
Primary Sclerosing Cholangitis as a Premalignant Biliary Tract Disease: Surveillance and Management.
Ilyas SI, Eaton JE, Gores GJ
Clin Gastroenterol Hepatol 2015 Nov;13(12):2152-65. Epub 2015 Jun 5 doi: 10.1016/j.cgh.2015.05.035. PMID: 26051390Free PMC Article
Current HER2 Testing Recommendations and Clinical Relevance as a Predictor of Response to Targeted Therapy.
Ballinger TJ, Sanders ME, Abramson VG
Clin Breast Cancer 2015 Jun;15(3):171-80. Epub 2014 Dec 2 doi: 10.1016/j.clbc.2014.11.009. PMID: 25516402
Recall processes for biliary cytology in primary sclerosing cholangitis.
Eaton JE, Gossard AA, Talwalkar JA
Curr Opin Gastroenterol 2014 May;30(3):287-94. doi: 10.1097/MOG.0000000000000055. PMID: 24686433
Oral premalignant lesions: any progress with systemic therapies?
William WN Jr
Curr Opin Oncol 2012 May;24(3):205-10. doi: 10.1097/CCO.0b013e32835091bd. PMID: 22273549

Therapy

Role of Genomic Alterations in HER2 Positive Breast Carcinoma: Focus on Susceptibility and Trastuzumab-therapy.
Singla H, Kalra S, Kheterpal P, Kumar V, Munshi A
Curr Cancer Drug Targets 2017;17(4):344-356. doi: 10.2174/1568009616666161216094026. PMID: 27993117
Current HER2 Testing Recommendations and Clinical Relevance as a Predictor of Response to Targeted Therapy.
Ballinger TJ, Sanders ME, Abramson VG
Clin Breast Cancer 2015 Jun;15(3):171-80. Epub 2014 Dec 2 doi: 10.1016/j.clbc.2014.11.009. PMID: 25516402
HER2 screening data from ToGA: targeting HER2 in gastric and gastroesophageal junction cancer.
Van Cutsem E, Bang YJ, Feng-Yi F, Xu JM, Lee KW, Jiao SC, Chong JL, López-Sanchez RI, Price T, Gladkov O, Stoss O, Hill J, Ng V, Lehle M, Thomas M, Kiermaier A, Rüschoff J
Gastric Cancer 2015 Jul;18(3):476-84. Epub 2014 Jul 20 doi: 10.1007/s10120-014-0402-y. PMID: 25038874Free PMC Article
The important molecular markers on chromosome 17 and their clinical impact in breast cancer.
Zhang W, Yu Y
Int J Mol Sci 2011;12(9):5672-83. Epub 2011 Sep 5 doi: 10.3390/ijms12095672. PMID: 22016618Free PMC Article
Current paradigms for the use of HER2-targeted therapy in early-stage breast cancer.
Bedard PL, Piccart-Gebhart MJ
Clin Breast Cancer 2008 Dec;8 Suppl 4:S157-65. doi: 10.3816/CBC.2008.s.012. PMID: 19158036

Prognosis

Genomic Landscape of Mixed-Phenotype Acute Leukemia.
Hennawi M, Pakasticali N, Tashkandi H, Hussaini M
Int J Mol Sci 2022 Sep 24;23(19) doi: 10.3390/ijms231911259. PMID: 36232559Free PMC Article
Role of Genomic Alterations in HER2 Positive Breast Carcinoma: Focus on Susceptibility and Trastuzumab-therapy.
Singla H, Kalra S, Kheterpal P, Kumar V, Munshi A
Curr Cancer Drug Targets 2017;17(4):344-356. doi: 10.2174/1568009616666161216094026. PMID: 27993117
Current HER2 Testing Recommendations and Clinical Relevance as a Predictor of Response to Targeted Therapy.
Ballinger TJ, Sanders ME, Abramson VG
Clin Breast Cancer 2015 Jun;15(3):171-80. Epub 2014 Dec 2 doi: 10.1016/j.clbc.2014.11.009. PMID: 25516402
Recall processes for biliary cytology in primary sclerosing cholangitis.
Eaton JE, Gossard AA, Talwalkar JA
Curr Opin Gastroenterol 2014 May;30(3):287-94. doi: 10.1097/MOG.0000000000000055. PMID: 24686433
Oral premalignant lesions: any progress with systemic therapies?
William WN Jr
Curr Opin Oncol 2012 May;24(3):205-10. doi: 10.1097/CCO.0b013e32835091bd. PMID: 22273549

Clinical prediction guides

Variation of mutant allele frequency in NRAS Q61 mutated melanomas.
Hélias-Rodzewicz Z, Funck-Brentano E, Terrones N, Beauchet A, Zimmermann U, Marin C, Saiag P, Emile JF
BMC Dermatol 2017 Jul 1;17(1):9. doi: 10.1186/s12895-017-0061-x. PMID: 28668077Free PMC Article
Role of Genomic Alterations in HER2 Positive Breast Carcinoma: Focus on Susceptibility and Trastuzumab-therapy.
Singla H, Kalra S, Kheterpal P, Kumar V, Munshi A
Curr Cancer Drug Targets 2017;17(4):344-356. doi: 10.2174/1568009616666161216094026. PMID: 27993117
Heterogeneity of c-Met expression in Chinese gastric cancer patients.
Zhu C, Xu J, Li M, Zhao G, Cao H
Hum Pathol 2015 Dec;46(12):1901-7. Epub 2015 Sep 3 doi: 10.1016/j.humpath.2015.06.025. PMID: 26472163
Recall processes for biliary cytology in primary sclerosing cholangitis.
Eaton JE, Gossard AA, Talwalkar JA
Curr Opin Gastroenterol 2014 May;30(3):287-94. doi: 10.1097/MOG.0000000000000055. PMID: 24686433
Chromosomal patterns in human malignant astrocytomas.
Rey JA, Bello MJ, de Campos JM, Kusak ME, Ramos C, Benitez J
Cancer Genet Cytogenet 1987 Dec;29(2):201-21. doi: 10.1016/0165-4608(87)90232-9. PMID: 2824025

Recent systematic reviews

Fluorescence in situ hybridization for diagnosis of cholangiocarcinoma in primary sclerosing cholangitis: a systematic review and meta-analysis.
Navaneethan U, Njei B, Venkatesh PG, Vargo JJ, Parsi MA
Gastrointest Endosc 2014 Jun;79(6):943-950.e3. Epub 2013 Dec 19 doi: 10.1016/j.gie.2013.11.001. PMID: 24360654
EGFR mutation testing on cytological and histological samples in non-small cell lung cancer: a Polish, single institution study and systematic review of European incidence.
Szumera-Ciećkiewicz A, Olszewski WT, Tysarowski A, Kowalski DM, Głogowski M, Krzakowski M, Siedlecki JA, Wągrodzki M, Prochorec-Sobieszek M
Int J Clin Exp Pathol 2013;6(12):2800-12. Epub 2013 Nov 15 PMID: 24294366Free PMC Article
Pentasomy 49,XXXXY diagnosed in utero: case report and systematic review of antenatal findings.
Peitsidis P, Manolakos E, Peitsidou A, Petersen MB, Tsoplou P, Kadir R, Agapitos E
Fetal Diagn Ther 2009;26(1):1-5. Epub 2009 Oct 10 doi: 10.1159/000236351. PMID: 19816022

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