Difference between revisions of "Isochromosome 12p"
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'''Isochromosome 12p''', abbreviated i(12p), a genetic abnormality associated with [[germ cell tumours]].<ref>{{cite journal |authors=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 |title=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 |journal=Hum Pathol |volume=112 |issue= |pages=20–34 |date=June 2021 |pmid=33798590 |doi=10.1016/j.humpath.2021.03.008 |url=}}</ref> | [[Image: Isochromosome.gif |thumb|Schematic description of an isochromosome (Kazulanth/WC).]] | ||
'''Isochromosome 12p''', abbreviated '''i(12p)''', a genetic abnormality associated with [[germ cell tumours]].<ref>{{cite journal |authors=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 |title=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 |journal=Hum Pathol |volume=112 |issue= |pages=20–34 |date=June 2021 |pmid=33798590 |doi=10.1016/j.humpath.2021.03.008 |url=}}</ref> | |||
i(12p) is seen in approximately 80% of male germ cell tumours.<ref>{{cite journal |authors=Bosl GJ, Ilson DH, Rodriguez E, Motzer RJ, Reuter VE, Chaganti RS |title=Clinical relevance of the i(12p) marker chromosome in germ cell tumors |journal=J Natl Cancer Inst |volume=86 |issue=5 |pages=349–55 |date=March 1994 |pmid=8308927 |doi=10.1093/jnci/86.5.349 |url=}}</ref> | |||
Can be detected with [[NGS]] and/or [[FISH]].<ref>{{cite journal |authors=Fichtner A, Richter A, Filmar S, Gaisa NT, Schweyer S, Reis H, Nettersheim D, Oing C, Gayer FA, Leha A, Küffer S, Ströbel P, Kaulfuß S, Bremmer F |title=The detection of isochromosome i(12p) in malignant germ cell tumours and tumours with somatic malignant transformation by the use of quantitative real-time polymerase chain reaction |journal=Histopathology |volume=78 |issue=4 |pages=593–606 |date=March 2021 |pmid=32970854 |doi=10.1111/his.14258 |url=}}</ref><ref>{{cite journal |authors=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 |title=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 |journal=Hum Pathol |volume=112 |issue= |pages=20–34 |date=June 2021 |pmid=33798590 |doi=10.1016/j.humpath.2021.03.008 |url=}}</ref> | |||
==See also== | |||
*[[Molecular pathology]]. | |||
==References== | ==References== | ||
{{Reflist| | {{Reflist|2}} | ||
[[Category:Molecular pathology]] | [[Category:Molecular pathology]] | ||
[[Category:Genitourinary pathology]] | [[Category:Genitourinary pathology]] | ||
Latest revision as of 16:10, 31 October 2023
Isochromosome 12p, abbreviated i(12p), a genetic abnormality associated with germ cell tumours.[1]
i(12p) is seen in approximately 80% of male germ cell tumours.[2]
Can be detected with NGS and/or FISH.[3][4]
See also
References
- ↑ 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 (June 2021). "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". Hum Pathol 112: 20–34. doi:10.1016/j.humpath.2021.03.008. PMID 33798590.
- ↑ Bosl GJ, Ilson DH, Rodriguez E, Motzer RJ, Reuter VE, Chaganti RS (March 1994). "Clinical relevance of the i(12p) marker chromosome in germ cell tumors". J Natl Cancer Inst 86 (5): 349–55. doi:10.1093/jnci/86.5.349. PMID 8308927.
- ↑ Fichtner A, Richter A, Filmar S, Gaisa NT, Schweyer S, Reis H, Nettersheim D, Oing C, Gayer FA, Leha A, Küffer S, Ströbel P, Kaulfuß S, Bremmer F (March 2021). "The detection of isochromosome i(12p) in malignant germ cell tumours and tumours with somatic malignant transformation by the use of quantitative real-time polymerase chain reaction". Histopathology 78 (4): 593–606. doi:10.1111/his.14258. PMID 32970854.
- ↑ 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 (June 2021). "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". Hum Pathol 112: 20–34. doi:10.1016/j.humpath.2021.03.008. PMID 33798590.