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Case Reports
. 2020 Jun;67(6):e28302.
doi: 10.1002/pbc.28302. Epub 2020 Apr 14.

TIM-3 deficiency presenting with two clonally unrelated episodes of mesenteric and subcutaneous panniculitis-like T-cell lymphoma and hemophagocytic lymphohistiocytosis

Oliver Wegehaupt  1   2 , Miriam Groß  2   3 , Claudia Wehr  4   5 , Reinhard Marks  5 , Annette Schmitt-Graeff  6 , Markus Uhl  7 , Myriam Lorenz  8 , Klaus Schwarz  8   9 , Christian Kratz  10 , Charlotte Niemeyer  1 , Stephan Ehl  2
Affiliations
Case Reports

TIM-3 deficiency presenting with two clonally unrelated episodes of mesenteric and subcutaneous panniculitis-like T-cell lymphoma and hemophagocytic lymphohistiocytosis

Oliver Wegehaupt et al. Pediatr Blood Cancer. 2020 Jun.

Abstract

This report offers novel clinical and diagnostic aspects of the association between germline mutations in HAVCR2 and subcutaneous panniculitis-like T-cell lymphoma (SPTCL). The patient presented with panniculitis-like T-cell lymphoma involving mesenteric fatty tissue associated with hemophagocytic lymphohistiocytosis (HLH). Five years later, he developed a clonally unrelated SPTCL and underwent hematopoietic stem cell transplantation. Retrospectively, he was found to carry germline mutations in HAVCR2 associated with reduced T-cell immunoglobulin mucin-3 (TIM-3) expression. We show that mesenteric fatty tissue localization of SPTCL can be the presenting manifestation of TIM-3 deficiency, that this condition predisposes to recurrent lymphoma, and that flow cytometry is a possible screening tool.

Keywords: congenital immunodeficiency (not HIV); hemophagocytic lymphohistiocytosis; non-Hodgkin's lymphoma; stem cell transplantation; subcutaneous panniculitis-like T-cell lymphoma.

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References

REFERENCES

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