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Giant Rod Chromosome

MedGen UID:
309229
•Concept ID:
C1517546
•
Cell or Molecular Dysfunction

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGiant Rod Chromosome

Recent clinical studies

Etiology

Consistent Amplification of FRS2 and MDM2 in Low-grade Osteosarcoma: A Genetic Study of 22 Cases With Clinicopathologic Analysis.
He X, Pang Z, Zhang X, Lan T, Chen H, Chen M, Yang H, Huang J, Chen Y, Zhang Z, Jing W, Peng R, Zhang H
Am J Surg Pathol 2018 Sep;42(9):1143-1155. doi: 10.1097/PAS.0000000000001125. PMID: 30001240
High-resolution genomic mapping reveals consistent amplification of the fibroblast growth factor receptor substrate 2 gene in well-differentiated and dedifferentiated liposarcoma.
Wang X, Asmann YW, Erickson-Johnson MR, Oliveira JL, Zhang H, Moura RD, Lazar AJ, Lev D, Bill K, Lloyd RV, Yaszemski MJ, Maran A, Oliveira AM
Genes Chromosomes Cancer 2011 Nov;50(11):849-58. Epub 2011 Jul 26 doi: 10.1002/gcc.20906. PMID: 21793095
Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa.
Friedman JS, Ray JW, Waseem N, Johnson K, Brooks MJ, Hugosson T, Breuer D, Branham KE, Krauth DS, Bowne SJ, Sullivan LS, Ponjavic V, Gränse L, Khanna R, Trager EH, Gieser LM, Hughbanks-Wheaton D, Cojocaru RI, Ghiasvand NM, Chakarova CF, Abrahamson M, Göring HH, Webster AR, Birch DG, Abecasis GR, Fann Y, Bhattacharya SS, Daiger SP, Heckenlively JR, Andréasson S, Swaroop A
Am J Hum Genet 2009 Jun;84(6):792-800. doi: 10.1016/j.ajhg.2009.05.007. PMID: 19520207Free PMC Article
Pathology and genetics of adipocytic tumors.
Hameed M
Cytogenet Genome Res 2007;118(2-4):138-47. doi: 10.1159/000108294. PMID: 18000364
A well-differentiated liposarcoma with a new type of chromosome 12-derived markers.
Forus A, Bjerkehagen B, Sirvent N, Meza-Zepeda LA, Coindre JM, Berner JM, Myklebost O, Pedeutour F
Cancer Genet Cytogenet 2001 Nov;131(1):13-8. doi: 10.1016/s0165-4608(01)00516-7. PMID: 11734312

Diagnosis

Contributions of cytogenetics and molecular cytogenetics to the diagnosis of adipocytic tumors.
Nishio J
J Biomed Biotechnol 2011;2011:524067. Epub 2011 Jan 11 doi: 10.1155/2011/524067. PMID: 21274402Free PMC Article
Carboxypeptidase M: a biomarker for the discrimination of well-differentiated liposarcoma from lipoma.
Erickson-Johnson MR, Seys AR, Roth CW, King AA, Hulshizer RL, Wang X, Asmann YW, Lloyd RV, Jacob EK, Oliveira AM
Mod Pathol 2009 Dec;22(12):1541-7. Epub 2009 Oct 9 doi: 10.1038/modpathol.2009.149. PMID: 19820690
Nebulin--a giant chameleon.
Pelin K, Wallgren-Pettersson C
Adv Exp Med Biol 2008;642:28-39. PMID: 19181091
Pathology and genetics of adipocytic tumors.
Hameed M
Cytogenet Genome Res 2007;118(2-4):138-47. doi: 10.1159/000108294. PMID: 18000364
A well-differentiated liposarcoma with a new type of chromosome 12-derived markers.
Forus A, Bjerkehagen B, Sirvent N, Meza-Zepeda LA, Coindre JM, Berner JM, Myklebost O, Pedeutour F
Cancer Genet Cytogenet 2001 Nov;131(1):13-8. doi: 10.1016/s0165-4608(01)00516-7. PMID: 11734312

Prognosis

Biology and Management of Deep-seated Atypical Lipomatous Tumor of the Extremities.
Nishio J, Nakayama S, Chijiiwa Y, Aoki M
Anticancer Res 2023 Oct;43(10):4295-4301. doi: 10.21873/anticanres.16624. PMID: 37772567
Carboxypeptidase M: a biomarker for the discrimination of well-differentiated liposarcoma from lipoma.
Erickson-Johnson MR, Seys AR, Roth CW, King AA, Hulshizer RL, Wang X, Asmann YW, Lloyd RV, Jacob EK, Oliveira AM
Mod Pathol 2009 Dec;22(12):1541-7. Epub 2009 Oct 9 doi: 10.1038/modpathol.2009.149. PMID: 19820690
NUANCE, a giant protein connecting the nucleus and actin cytoskeleton.
Zhen YY, Libotte T, Munck M, Noegel AA, Korenbaum E
J Cell Sci 2002 Aug 1;115(Pt 15):3207-22. doi: 10.1242/jcs.115.15.3207. PMID: 12118075
Pseudo-Chediak-Higashi anomaly in acute myeloid leukemia (M2) of childhood.
Aonuma K, Komiyama A, Akabane T
Acta Paediatr Jpn 1990 Dec;32(6):651-5. doi: 10.1111/j.1442-200x.1990.tb00899.x. PMID: 2082666

Clinical prediction guides

Carboxypeptidase M: a biomarker for the discrimination of well-differentiated liposarcoma from lipoma.
Erickson-Johnson MR, Seys AR, Roth CW, King AA, Hulshizer RL, Wang X, Asmann YW, Lloyd RV, Jacob EK, Oliveira AM
Mod Pathol 2009 Dec;22(12):1541-7. Epub 2009 Oct 9 doi: 10.1038/modpathol.2009.149. PMID: 19820690
NUANCE, a giant protein connecting the nucleus and actin cytoskeleton.
Zhen YY, Libotte T, Munck M, Noegel AA, Korenbaum E
J Cell Sci 2002 Aug 1;115(Pt 15):3207-22. doi: 10.1242/jcs.115.15.3207. PMID: 12118075
A well-differentiated liposarcoma with a new type of chromosome 12-derived markers.
Forus A, Bjerkehagen B, Sirvent N, Meza-Zepeda LA, Coindre JM, Berner JM, Myklebost O, Pedeutour F
Cancer Genet Cytogenet 2001 Nov;131(1):13-8. doi: 10.1016/s0165-4608(01)00516-7. PMID: 11734312
Comparative sequence analysis of the MECP2-locus in human and mouse reveals new transcribed regions.
Reichwald K, Thiesen J, Wiehe T, Weitzel J, Poustka WA, Rosenthal A, Platzer M, Strätling WH, Kioschis P
Mamm Genome 2000 Mar;11(3):182-90. doi: 10.1007/s003350010035. PMID: 10723722
Structure of the supernumerary ring and giant rod chromosomes in adipose tissue tumors.
Pedeutour F, Forus A, Coindre JM, Berner JM, Nicolo G, Michiels JF, Terrier P, Ranchere-Vince D, Collin F, Myklebost O, Turc-Carel C
Genes Chromosomes Cancer 1999 Jan;24(1):30-41. PMID: 9892106

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