Isochromosome 12p

Isochromosome 12p, abbreviated i(12p), a genetic abnormality associated with germ cell tumours.^[1]

Schematic description of an isochromosome (Kazulanth/WC).

i(12p) is seen in approximately 80% of male germ cell tumours.^[2]

Can be detect with NGS and/or FISH.^[3]^[4]

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.

[1] 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.

[2] 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.

[3] 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.

[4] 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.

[1]

[2]

[3]

[4]

Isochromosome 12p

See also

References

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