TIM-3 deficiency presenting with two clonally unrelated episodes of mesenteric and subcutaneous panniculitis-like T-cell lymphoma and hemophagocytic lymphohistiocytosis.
Pediatr Blood Cancer
; 67(6): e28302, 2020 06.
Article
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| MEDLINE
| ID: mdl-32285995
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.
Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Paniculitis
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Linfoma de Células T
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Mutación de Línea Germinal
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Linfohistiocitosis Hemofagocítica
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Receptor 2 Celular del Virus de la Hepatitis A
/
Mesenterio
Tipo de estudio:
Prognostic_studies
Límite:
Adolescent
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Humans
/
Male
Idioma:
En
Revista:
Pediatr Blood Cancer
Asunto de la revista:
HEMATOLOGIA
/
NEOPLASIAS
/
PEDIATRIA
Año:
2020
Tipo del documento:
Article
País de afiliación:
Alemania