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.

doi:10.1016/j.humpath.2021.03.008

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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.

Human pathology - 1 Jun 2021

Freitag C Eric, Sukov William R, Bryce Alan H, Berg Jamie V, Vanderbilt Chad M, Shen Wei, Smadbeck James B, Greipp Patricia T, Ketterling Rhett P, Jenkins Robert B, Herrera-Hernandez Loren, Costello Brian A, Thompson R Houston, Boorjian Stephen A, Leibovich Bradley C, Jimenez Rafael E, Murphy Stephen J, Vasmatzis George, Cheville John C, Gupta Sounak

Abstract excerpt

The identification of isochromosome 12p [i(12p)] and 12p gains have significant clinical utility in the diagnosis of germ cell tumors (GCTs). We have summarized the results of fluorescence in situ hybridization (FISH) assays to identify i(12p), performed in a Clinical Laboratory Improvement Amendments (CLIA)-validated setting for 536 specimens. In addition, the American Association for Cancer Research (AACR)...

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PMID: 33798590
DOI: 10.1016/j.humpath.2021.03.008

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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