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Histopathology. 2019 Sep 26. doi: 10.1111/his.14005. [Epub ahead of print]

Fluorescence In Situ Hybridization for TP63 Rearrangements in T-cell Lymphomas: Single Site Experience of 470 Patients and Implications for Clinical Testing.

Author information

1
Department of Laboratory Medicine and Pathology, Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, MN, USA.
2
Department of Laboratory Medicine and Pathology, Division of Hematopathology, Mayo Clinic, Rochester, MN, USA.

Abstract

AIMS:

The aims of this study were to review our 5-year experience with clinical FISH testing for TP63 rearrangements using both TP63 breakapart (BAP) and TBL1XR1/TP63 dual-fusion (D-FISH) probes, to evaluate the frequency of TP63 rearrangements and the distribution of TBL1XR1 versus alternate partner loci, and to assess whether both probe sets are necessary in up-front FISH testing.

METHODS AND RESULTS:

A retrospective review of the Mayo Clinic cytogenetic database identified 470 patients evaluated by FISH testing for TP63 rearrangements in FFPE tissue using both BAP and D-FISH probes. Of these, 25 (5.3%) had TP63 rearrangements. All samples were being investigated for anaplastic large cell lymphoma or other T-cell lymphoma subtypes. A TBL1XR1 partner was identified by D-FISH in 12 (48%) of 25 cases. All cases positive by TBL1XR1/TP63 D-FISH were also positive by TP63 BAP FISH.

CONCLUSION:

This is the largest series of TP63 rearrangements to date. The frequency of positive results among cases referred to a large reference laboratory for TP63 FISH testing was 5.3%. Approximately half of TP63 rearrangements have a TBL1XR1 partner. TP63 BAP FISH testing is sufficient for up-front testing of FFPE tissue samples. However, because of the genomic proximity of the TP63 and TBL1XR1 loci, we recommend reflex TBL1XR1/TP63 D-FISH testing in positive and equivocal cases.

KEYWORDS:

TP63 ; Anaplastic large cell lymphoma; T-cell lymphoma; chromosomal rearrangement; fluorescence in situ hybridization; p63

PMID:
31557339
DOI:
10.1111/his.14005

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