Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a malignant primary cutaneous T-cell lymphoma that is challenging to distinguish from other neoplastic and reactive panniculitides. In an attempt to identify somatic variants in SPTCL that may be diagnostically or therapeutically
relevant, we performed both exome sequencing on paired tumor-normal samples and targeted sequencing of hematolymphoid-malignancy–associated genes on tumor biopsies. Exome sequencing was performed on skin biopsies from 4 cases of skin-limited SPTCL, 1 case of peripheral T-cell lymphoma,
not otherwise specified with secondary involvement of the panniculus, and 2 cases of lupus panniculitis. This approach detected between 1 and 13 high-confidence somatic variants that were predicted to result in a protein alteration per case. Variants of interest identified include 1 missense
mutation in ARID1B in 1 case of SPTCL. To detect variants that were present at a lower level, we used a more sensitive targeted panel to sequence 41 hematolymphoid-malignancy–associated genes. The targeted panel was applied to 2 of the biopsies that were evaluated by whole exome
sequencing as well as 5 additional biopsies. Potentially pathogenic variants were identified in KMT2D and PLCG1 among others, but no gene was altered in >2 of the 7 cases sequenced. One variant that was notably absent from the cases sequences is RHOA G17V. Further work
will be required to further elucidate the genetic abnormalities that lead to this rare lymphoma.
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subcutaneous panniculitis-like T-cell lymphoma
Document Type: Research Article
Departments of Pathology
Departments of Pathology, Biomedical Data Science
Dermatology, Stanford University, CA
Department of Pathology, University of Chicago, Chicago, IL
Departments of Pathology, Dermatology, Stanford University, CA
November 1, 2019