Erythema multiforme‐like lesions in primary cutaneous aggressive cytotoxic epidermotropic CD8+ T‐cell lymphoma: A diagnostic and therapeutic challenge

Abstract

Primary cutaneous aggressive cytotoxic epidermotropic CD8+ T-cell lymphoma is an extremely rare, rapidly progressing, cutaneous lymphoma, with frequent systemic involvement and poor prognosis, that still represents a diagnostic and therapeutic challenge, especially in the early stage. Herein, we report a case of an elderly woman with a fulminant course, who at onset presented with clinical and pathological features mimicking erythema multiforme (EM) and treated with cyclosporine that led to rapid deterioration with fatal outcome 6 months after disease onset. Histopathology showed a lichenoid, epidermotropic and nodular, angiocentric, dermal and subcutaneous infiltrate of sF1, CD8+, CD45RA+ small to medium-sized atypical lymphoid cells, which strongly expressed cytotoxic markers. Monoclonal T-cell-γ receptor was clonally rearranged and array-CGH showed numerous chromosomal imbalances. This case evidences the clinical, pathological and therapeutic challenges involved in this tumor. The first biopsy showed an interface dermatitis-like pattern, revealing the deceptive features that early cutaneous infiltrates of this aggressive lymphoma may have. A high suspicion for aggressive CTCL and a low threshold for repeat biopsies should be maintained when faced with rapidly progressing and/or ulcerative EM-like lesions, especially if immunomodulatory therapy is being considered.

Array‐based CGH of primary cutaneous CD8+ aggressive EPIDERMO‐tropic cytotoxic T‐cell lymphoma

“…To the best of our knowledge, this is the first a‐CGH analysis of a large cohort of pcAECyTCL patients. Only two previous molecular studies have been published: one, a single case report described by our group and included in this study; the other, a single case report concerning a 6‐year‐old child who was analyzed by means of SNP arrays that revealed numerous gains and losses suggesting genomic instability. In particular, the authors of this study found TP53 haploinsufficiency due to the loss of the entire 17p arm, and suggested that an alteration in the p14ARF/Mdm2/p53 tumor suppressor protein pathway may be associated with an unfavorable clinical course.…”

“…1 The rarity of the entity means that its pathogenesis and molecular mechanisms are still unknown and, to the best of our knowledge, it has not yet been molecularly characterized and only two individual case reports have described genomic aberrations respectively detected by means of a single-nucleotide polymorphism array (SNP array) and arraybased comparative genomic hybridization (a-CGH). 5,6 Daniele Fanoni and Laura Corti contributed equally to this study.…”

NK/T-cell lymphoma, nasal type, γδ T-cell lymphoma, and CD8-positive epidermotropic T-cell lymphoma—clinical and histopathologic features, differential diagnosis, and treatment

“…The rare PCAE-TCL can be clinically misdiagnosed as more common inflammatory dermatoses such as pityriasis lichenoides et varioliformis or Mucha-Haberman disease that often has a CD8 + phenotype and possible monoclonal TCR rearrangement, 29,31 and pyoderma gangrenosum and erythema multiforme. 32 Histology and immunohistochemical studies allow a distinction between these entities.…”

Deregulation of JAK2 signaling underlies primary cutaneous CD8⁺ aggressive epidermotropic cytotoxic T-cell lymphoma

“…Recently, a study performed on tumors from 20 patients defined the copy number alteration (CNA) profile of pcAECyTCL by using array-based comparative genomic hybridization, 5 and before this, two clinical case reports included the evaluation of CNA in single patients by using array-based methods as well. 6,7 Recurrent CNA uncovered by these studies include losses within 1p, 9p, 13q and 16p as well as gains within 7q, 8q and 17q, with loss of the region containing CDKN2A/B being the most frequent CNA. 5 However, aside from the aforementioned chromosomal imbalances, causative genetic changes in pcAECyTCL remain unknown.…”