Subcutaneous Panniculitis-like T-Cell Lymphoma (SPTCL) With Hemophagocytic Lymphohistiocytosis (HLH) Syndrome in Children and Its Essential Role of HAVCR2 Gene Mutation Analysis


J Pediatr Hematol Oncol. 2020 Sep 29. doi: 10.1097/MPH.0000000000001954. Online ahead of print.


BACKGROUND: We identified 3 adolescents with alpha-beta subtype subcutaneous panniculitis-like T-cell lymphoma.

CASE PRESENTATION: Three patients presented with prolonged fever, abnormal skin lesions, and cytopenia described in the context. All had the same disease entity, which showed the prolonged duration of B systemic symptoms till diagnosis, difficulty to distinguish from autoimmune diseases, presence of hemophagocytic lymphohistiocytosis syndrome, good response, and remained on long-term remission with nonchemotherapy treatment, which included oral corticosteroid and cyclosporin.

CONCLUSIONS: Although diagnosis can only be "highly suspected" with pathologic review, some cases may need multiple serial skin biopsy to clarify diagnosis because of the discrete distribution of specific histology. T-cell receptor gene rearrangement, which demonstrates a monoclonal pattern of alpha and beta chain gene, is the essential requirement for specific diagnosis. The role of molecular analysis by identification of germline hepatitis A virus cellular receptor 2 (HAVCR2) gene mutation can

be much valuable in classifying susceptible patients.