TIM-3 deficiency presenting with two clonally unrelated episodes of mesenteric and subcutaneous panniculitis-like T-cell lymphoma and hemophagocytic lymphohistiocytosis
© 2020 The Authors. Pediatric Blood & Cancer published by Wiley Periodicals, Inc..
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.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2020 |
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| Erschienen: |
2020 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:67 |
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| Enthalten in: |
Pediatric blood & cancer - 67(2020), 6 vom: 03. Juni, Seite e28302 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Wegehaupt, Oliver [VerfasserIn] |
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| Links: |
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| Anmerkungen: |
Date Completed 17.08.2020 Date Revised 17.08.2020 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1002/pbc.28302 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM308709837 |
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| 500 | |a published: Print-Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a © 2020 The Authors. Pediatric Blood & Cancer published by Wiley Periodicals, Inc. | ||
| 520 | |a 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 | ||
| 650 | 4 | |a Case Reports | |
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| 650 | 4 | |a hemophagocytic lymphohistiocytosis | |
| 650 | 4 | |a non-Hodgkin's lymphoma | |
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| 700 | 1 | |a Groß, Miriam |e verfasserin |4 aut | |
| 700 | 1 | |a Wehr, Claudia |e verfasserin |4 aut | |
| 700 | 1 | |a Marks, Reinhard |e verfasserin |4 aut | |
| 700 | 1 | |a Schmitt-Graeff, Annette |e verfasserin |4 aut | |
| 700 | 1 | |a Uhl, Markus |e verfasserin |4 aut | |
| 700 | 1 | |a Lorenz, Myriam |e verfasserin |4 aut | |
| 700 | 1 | |a Schwarz, Klaus |e verfasserin |4 aut | |
| 700 | 1 | |a Kratz, Christian |e verfasserin |4 aut | |
| 700 | 1 | |a Niemeyer, Charlotte |e verfasserin |4 aut | |
| 700 | 1 | |a Ehl, Stephan |e verfasserin |4 aut | |
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