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i(12p)

MedGen UID:
271854
•Concept ID:
C1515647
•
Cell or Molecular Dysfunction
Synonym: isochromosome 12p

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVi(12p)

Professional guidelines

PubMed

Prenatal diagnosis of Pallister-Killian syndrome and literature review.
Wu X, Xie X, Su L, Lin N, Liang B, Guo N, Chen Q, Xu L, Huang H
J Cell Mol Med 2021 Sep;25(18):8929-8935. Epub 2021 Aug 18 doi: 10.1111/jcmm.16853. PMID: 34405543Free PMC Article
Prenatal profile of Pallister-Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis.
Salzano E, Raible SE, Kaur M, Wilkens A, Sperti G, Tilton RK, Bettini LR, Rocca A, Cocchi G, Selicorni A, Conlin LK, McEldrew D, Gupta R, Thakur S, Izumi K, Krantz ID
Am J Med Genet A 2018 Dec;176(12):2575-2586. Epub 2018 Oct 5 doi: 10.1002/ajmg.a.40499. PMID: 30289601
Molecular genetic parameters in pathogenesis and prognosis of testicular germ cell tumors.
Heidenreich A, Srivastava S, Moul JW, Hofmann R
Eur Urol 2000 Feb;37(2):121-35. doi: 10.1159/000020128. PMID: 10705188

Recent clinical studies

Etiology

Prenatal diagnosis of Pallister-Killian syndrome and literature review.
Wu X, Xie X, Su L, Lin N, Liang B, Guo N, Chen Q, Xu L, Huang H
J Cell Mol Med 2021 Sep;25(18):8929-8935. Epub 2021 Aug 18 doi: 10.1111/jcmm.16853. PMID: 34405543Free PMC Article
Practical Molecular Testing in a Clinical Genitourinary Service.
Magers MJ, Cheng L
Arch Pathol Lab Med 2020 Mar;144(3):277-289. Epub 2019 Aug 2 doi: 10.5858/arpa.2019-0134-RA. PMID: 31373513
Evidence of a dual histogenetic pathway of sacrococcygeal teratomas.
Emerson RE, Kao CS, Eble JN, Grignon DJ, Wang M, Zhang S, Wang X, Fan R, Masterson TA, Roth LM, Cheng L
Histopathology 2017 Jan;70(2):290-300. Epub 2016 Oct 10 doi: 10.1111/his.13062. PMID: 27521765
Mediastinal germ cell tumors.
Domínguez Malagón H, Pérez Montiel D
Semin Diagn Pathol 2005 Aug;22(3):230-40. doi: 10.1053/j.semdp.2006.02.009. PMID: 16711404
Origins and molecular biology of testicular germ cell tumors.
Reuter VE
Mod Pathol 2005 Feb;18 Suppl 2:S51-60. doi: 10.1038/modpathol.3800309. PMID: 15761466

Diagnosis

Primary mediastinal germ cell tumours: an immunohistochemical and molecular diagnostic approach.
Fichtner A, Richter A, Filmar S, Kircher S, Rosenwald A, Küffer S, Nettersheim D, Oing C, Marx A, Ströbel P, Bremmer F
Histopathology 2022 Jan;80(2):381-396. Epub 2021 Nov 16 doi: 10.1111/his.14560. PMID: 34506648
Prenatal diagnosis of Pallister-Killian syndrome and literature review.
Wu X, Xie X, Su L, Lin N, Liang B, Guo N, Chen Q, Xu L, Huang H
J Cell Mol Med 2021 Sep;25(18):8929-8935. Epub 2021 Aug 18 doi: 10.1111/jcmm.16853. PMID: 34405543Free PMC Article
Mediastinal Germ Cell Tumors: A Review and Update on Pathologic, Clinical, and Molecular Features.
El-Zaatari ZM, Ro JY
Adv Anat Pathol 2021 Sep 1;28(5):335-350. doi: 10.1097/PAP.0000000000000304. PMID: 34029275
Assessment of isochromosome 12p and 12p abnormalities in germ cell tumors using fluorescence in situ hybridization, single-nucleotide polymorphism arrays, and next-generation sequencing/mate-pair sequencing.
Freitag CE, Sukov WR, Bryce AH, Berg JV, Vanderbilt CM, Shen W, Smadbeck JB, Greipp PT, Ketterling RP, Jenkins RB, Herrera-Hernandez L, Costello BA, Thompson RH, Boorjian SA, Leibovich BC, Jimenez RE, Murphy SJ, Vasmatzis G, Cheville JC, Gupta S
Hum Pathol 2021 Jun;112:20-34. Epub 2021 Mar 31 doi: 10.1016/j.humpath.2021.03.008. PMID: 33798590
Practical Molecular Testing in a Clinical Genitourinary Service.
Magers MJ, Cheng L
Arch Pathol Lab Med 2020 Mar;144(3):277-289. Epub 2019 Aug 2 doi: 10.5858/arpa.2019-0134-RA. PMID: 31373513

Therapy

Development of acute megakaryoblastic leukemia with isochromosome (12p) after a primary mediastinal germ cell tumor in Korea.
Yu N, Kim HR, Cha YJ, Park EK, Kim JW
J Korean Med Sci 2011 Aug;26(8):1099-102. Epub 2011 Jul 28 doi: 10.3346/jkms.2011.26.8.1099. PMID: 21860563Free PMC Article
Myelodysplastic syndrome (RARS) with +i(12p) abnormality in a patient 10 months after diagnosis and successful treatment of a mediastinal germ cell tumor (MGCT).
Christodoulou J, Schoch C, Schnittger S, Haferlach T
Ann Hematol 2004 Jun;83(6):386-9. Epub 2003 Nov 13 doi: 10.1007/s00277-003-0787-x. PMID: 14615911
Molecular genetic parameters in pathogenesis and prognosis of testicular germ cell tumors.
Heidenreich A, Srivastava S, Moul JW, Hofmann R
Eur Urol 2000 Feb;37(2):121-35. doi: 10.1159/000020128. PMID: 10705188
Fluorescence in situ hybridization-based approaches for detection of 12p overrepresentation, in particular i(12p), in cell lines of human testicular germ cell tumors of adults.
Mostert MM, van de Pol M, van Echten J, Olde Weghuis D, Geurts van Kessel A, Oosterhuis JW, Looijenga LH
Cancer Genet Cytogenet 1996 Apr;87(2):95-102. doi: 10.1016/0165-4608(95)00233-2. PMID: 8625271
Molecular and cytogenetic studies in the diagnosis of patients with poorly differentiated carcinomas of unknown primary site.
Motzer RJ, Rodriguez E, Reuter VE, Bosl GJ, Mazumdar M, Chaganti RS
J Clin Oncol 1995 Jan;13(1):274-82. doi: 10.1200/JCO.1995.13.1.274. PMID: 7799031

Prognosis

Practical Molecular Testing in a Clinical Genitourinary Service.
Magers MJ, Cheng L
Arch Pathol Lab Med 2020 Mar;144(3):277-289. Epub 2019 Aug 2 doi: 10.5858/arpa.2019-0134-RA. PMID: 31373513
Evidence of a dual histogenetic pathway of sacrococcygeal teratomas.
Emerson RE, Kao CS, Eble JN, Grignon DJ, Wang M, Zhang S, Wang X, Fan R, Masterson TA, Roth LM, Cheng L
Histopathology 2017 Jan;70(2):290-300. Epub 2016 Oct 10 doi: 10.1111/his.13062. PMID: 27521765
Mediastinal germ cell tumors.
Domínguez Malagón H, Pérez Montiel D
Semin Diagn Pathol 2005 Aug;22(3):230-40. doi: 10.1053/j.semdp.2006.02.009. PMID: 16711404
Molecular genetic parameters in pathogenesis and prognosis of testicular germ cell tumors.
Heidenreich A, Srivastava S, Moul JW, Hofmann R
Eur Urol 2000 Feb;37(2):121-35. doi: 10.1159/000020128. PMID: 10705188
Genetic factors in malignant germ-cell tumors.
Heimdal K, Fosså SD
World J Urol 1994;12(4):178-81. doi: 10.1007/BF00185667. PMID: 7820137

Clinical prediction guides

Fluorescence In Situ Hybridization (FISH) Detection of Chromosomal 12p Anomalies in Testicular Germ Cell Tumors.
Cheng L, Davidson DD, Montironi R, Wang M, Lopez-Beltran A, Masterson TA, Albany C, Zhang S
Methods Mol Biol 2021;2195:49-63. doi: 10.1007/978-1-0716-0860-9_4. PMID: 32852756
Restricted 12p amplification and RAS mutation in human germ cell tumors of the adult testis.
Roelofs H, Mostert MC, Pompe K, Zafarana G, van Oorschot M, van Gurp RJ, Gillis AJ, Stoop H, Beverloo B, Oosterhuis JW, Bokemeyer C, Looijenga LH
Am J Pathol 2000 Oct;157(4):1155-66. doi: 10.1016/S0002-9440(10)64631-7. PMID: 11021820Free PMC Article
Clinical relevance of the i(12p) marker chromosome in germ cell tumors.
Bosl GJ, Ilson DH, Rodriguez E, Motzer RJ, Reuter VE, Chaganti RS
J Natl Cancer Inst 1994 Mar 2;86(5):349-55. doi: 10.1093/jnci/86.5.349. PMID: 8308927
Genetic factors in malignant germ-cell tumors.
Heimdal K, Fosså SD
World J Urol 1994;12(4):178-81. doi: 10.1007/BF00185667. PMID: 7820137
Overrepresentation of chromosome 12p sequences and karyotypic evolution in i(12p)-negative testicular germ-cell tumors revealed by fluorescence in situ hybridization.
Suijkerbuijk RF, Sinke RJ, Meloni AM, Parrington JM, van Echten J, de Jong B, Oosterhuis JW, Sandberg AA, Geurts van Kessel A
Cancer Genet Cytogenet 1993 Oct 15;70(2):85-93. doi: 10.1016/0165-4608(93)90173-j. PMID: 8242603

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