PMC7510171_01
Pathology and radiology. (A) Hematoxylin and eosin staining. Immunohistochemistry for (B) CD2, (C) CD3, (D) CD4, (E) CD56, (F) granzyme-B. Postcontrast T1-weighted MRI. (G) Left ethmoid tumor invading the left orbit and (H) left anterior cranial fossa. (I) Invasion of the left straight gyrus and adjacent dura.
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F1
The tumor tissue was characterized by large atypical lymphoid cells with irregular nuclear outlines and multiple nucleoli (Fig. 1A). The malignant cells were positive for CD2, CD3, CD4, CD56, and granzyme-B (Figs. 1B-F) by immunohistochemistry. Metastatic evaluation revealed an orbital mass (Fig. 1G) demonstrating intracranial extension into the left frontal cortex (Fig. 1H) and straight gyrus (Fig. 1I).
Molecular profiling data. (A) Circos plot illustrating the genomic profile. Outside-in: genes of interest, chromosome ideograms, copy number plot, and chromosomal structural aberrations. Red arrow points to loss of chromosome 6q. (B) Sanger sequence validation of mutations of interest. Altered nucleotides (N) are indicated by red arrows.
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F2
Notably, EBV viral sequences were identified (data not shown) along with a partial deletion of chromosome 6q, and a nonsense mutation in PRDM1, thereby supporting a diagnosis of ENKTCL (Figs. 2A and B). Oncogenic MAP2K1 (K57N) and STAT3 (N647I) mutations were also identified in this tumor (Fig. 2B).