TIM‐3 deficiency presenting with two clonally unrelated episodes of mesenteric and subcutaneous panniculitis‐like T‐cell lymphoma and hemophagocytic lymphohistiocytosis
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 l...
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| Veröffentlicht in: | Pediatric blood & cancer 2020-06, Vol.67 (6), p.e28302-n/a |
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| creator | Wegehaupt, Oliver Groß, Miriam Wehr, Claudia Marks, Reinhard Schmitt‐Graeff, Annette Uhl, Markus Lorenz, Myriam Schwarz, Klaus Kratz, Christian Niemeyer, Charlotte Ehl, Stephan |
| description | 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. |
| doi_str_mv | 10.1002/pbc.28302 |
| format | Article |
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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.</description><identifier>ISSN: 1545-5009</identifier><identifier>EISSN: 1545-5017</identifier><identifier>DOI: 10.1002/pbc.28302</identifier><identifier>PMID: 32285995</identifier><language>eng</language><publisher>United States: Wiley Subscription Services, Inc</publisher><subject>congenital immunodeficiency (not HIV) ; Flow cytometry ; Hematology ; Hematopoietic stem cells ; hemophagocytic lymphohistiocytosis ; Histiocytosis ; Localization ; Lymphatic diseases ; Lymphocytosis ; Lymphoma ; Mucin ; Mutation ; non‐Hodgkin's lymphoma ; Oncology ; Pediatrics ; Stem cell transplantation ; subcutaneous panniculitis‐like T‐cell lymphoma ; T-cell lymphoma</subject><ispartof>Pediatric blood & cancer, 2020-06, Vol.67 (6), p.e28302-n/a</ispartof><rights>2020 The Authors. published by Wiley Periodicals, Inc.</rights><rights>2020 The Authors. 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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.</description><subject>congenital immunodeficiency (not HIV)</subject><subject>Flow cytometry</subject><subject>Hematology</subject><subject>Hematopoietic stem cells</subject><subject>hemophagocytic lymphohistiocytosis</subject><subject>Histiocytosis</subject><subject>Localization</subject><subject>Lymphatic diseases</subject><subject>Lymphocytosis</subject><subject>Lymphoma</subject><subject>Mucin</subject><subject>Mutation</subject><subject>non‐Hodgkin's lymphoma</subject><subject>Oncology</subject><subject>Pediatrics</subject><subject>Stem cell transplantation</subject><subject>subcutaneous panniculitis‐like T‐cell lymphoma</subject><subject>T-cell lymphoma</subject><issn>1545-5009</issn><issn>1545-5017</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><sourceid>24P</sourceid><sourceid>WIN</sourceid><recordid>eNp1kUtu1TAUhiNERUthwAaQJSZ0cFs_8rCHcEWhUisYXMaRYx83Lk4cYkdXmbGErqSLYiU4N6UDJEY-sr_zHdt_lr0h-JxgTC-GRp1TzjB9lp2QIi82BSbV86cai-PsZQh3CS1xwV9kx4xSXghRnGQPu6ub37_uGdJgrLLQqxkNIwToo-1v0d7GFsW9R8r5Xjo3o6kfwckIGsFgg9cQkDeoO3TAaBWSvUZhatQUZQ9-CmiQfW_V5Gy0IY1y9gegXSoUOIfc3A2t7-ShrYXOD6289WqOybSetTZEu-z4YMOr7MhIF-D143qafb_8tNt-2Vx__Xy1_XC9UYxzuqlIqTkIU4iyIsYAFlWjTUEwbUpe6RxjXIGoQJaJK0pshKFgNOOSEZDA2Gn2fvUOo_85QYh1Z8Ny4fVNNWVclILm-YK--we989OYPmuhRM4xy8sqUWcrpUYfwgimHkbbyXGuCa6XEOsUYn0IMbFvH41T04F-Iv-mloCLFdhbB_P_TfW3j9tV-QfdNq2b</recordid><startdate>202006</startdate><enddate>202006</enddate><creator>Wegehaupt, Oliver</creator><creator>Groß, Miriam</creator><creator>Wehr, Claudia</creator><creator>Marks, Reinhard</creator><creator>Schmitt‐Graeff, Annette</creator><creator>Uhl, Markus</creator><creator>Lorenz, Myriam</creator><creator>Schwarz, Klaus</creator><creator>Kratz, Christian</creator><creator>Niemeyer, Charlotte</creator><creator>Ehl, Stephan</creator><general>Wiley Subscription Services, Inc</general><scope>24P</scope><scope>WIN</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7T5</scope><scope>7TK</scope><scope>7TO</scope><scope>8FD</scope><scope>FR3</scope><scope>H94</scope><scope>K9.</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0002-9391-0761</orcidid></search><sort><creationdate>202006</creationdate><title>TIM‐3 deficiency presenting with two clonally unrelated episodes of mesenteric and subcutaneous panniculitis‐like T‐cell lymphoma and hemophagocytic lymphohistiocytosis</title><author>Wegehaupt, Oliver ; Groß, Miriam ; Wehr, Claudia ; Marks, Reinhard ; Schmitt‐Graeff, Annette ; Uhl, Markus ; Lorenz, Myriam ; Schwarz, Klaus ; Kratz, Christian ; Niemeyer, Charlotte ; Ehl, Stephan</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3882-716d8e9f59671ffe097bdf5102b687d40007e97ea66d8560f9f2efd38a31eae33</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>congenital immunodeficiency (not HIV)</topic><topic>Flow cytometry</topic><topic>Hematology</topic><topic>Hematopoietic stem cells</topic><topic>hemophagocytic lymphohistiocytosis</topic><topic>Histiocytosis</topic><topic>Localization</topic><topic>Lymphatic diseases</topic><topic>Lymphocytosis</topic><topic>Lymphoma</topic><topic>Mucin</topic><topic>Mutation</topic><topic>non‐Hodgkin's lymphoma</topic><topic>Oncology</topic><topic>Pediatrics</topic><topic>Stem cell transplantation</topic><topic>subcutaneous panniculitis‐like T‐cell lymphoma</topic><topic>T-cell lymphoma</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Wegehaupt, Oliver</creatorcontrib><creatorcontrib>Groß, Miriam</creatorcontrib><creatorcontrib>Wehr, Claudia</creatorcontrib><creatorcontrib>Marks, Reinhard</creatorcontrib><creatorcontrib>Schmitt‐Graeff, Annette</creatorcontrib><creatorcontrib>Uhl, Markus</creatorcontrib><creatorcontrib>Lorenz, Myriam</creatorcontrib><creatorcontrib>Schwarz, Klaus</creatorcontrib><creatorcontrib>Kratz, Christian</creatorcontrib><creatorcontrib>Niemeyer, Charlotte</creatorcontrib><creatorcontrib>Ehl, Stephan</creatorcontrib><collection>Wiley Online Library Open Access</collection><collection>Wiley Online Library Free Content</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Immunology Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Oncogenes and Growth Factors Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Pediatric blood & cancer</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Wegehaupt, Oliver</au><au>Groß, Miriam</au><au>Wehr, Claudia</au><au>Marks, Reinhard</au><au>Schmitt‐Graeff, Annette</au><au>Uhl, Markus</au><au>Lorenz, Myriam</au><au>Schwarz, Klaus</au><au>Kratz, Christian</au><au>Niemeyer, Charlotte</au><au>Ehl, Stephan</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>TIM‐3 deficiency presenting with two clonally unrelated episodes of mesenteric and subcutaneous panniculitis‐like T‐cell lymphoma and hemophagocytic lymphohistiocytosis</atitle><jtitle>Pediatric blood & cancer</jtitle><addtitle>Pediatr Blood Cancer</addtitle><date>2020-06</date><risdate>2020</risdate><volume>67</volume><issue>6</issue><spage>e28302</spage><epage>n/a</epage><pages>e28302-n/a</pages><issn>1545-5009</issn><eissn>1545-5017</eissn><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.</abstract><cop>United States</cop><pub>Wiley Subscription Services, Inc</pub><pmid>32285995</pmid><doi>10.1002/pbc.28302</doi><tpages>4</tpages><orcidid>https://orcid.org/0000-0002-9391-0761</orcidid><oa>free_for_read</oa></addata></record> |
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| subjects | congenital immunodeficiency (not HIV) Flow cytometry Hematology Hematopoietic stem cells hemophagocytic lymphohistiocytosis Histiocytosis Localization Lymphatic diseases Lymphocytosis Lymphoma Mucin Mutation non‐Hodgkin's lymphoma Oncology Pediatrics Stem cell transplantation subcutaneous panniculitis‐like T‐cell lymphoma T-cell lymphoma |
| title | TIM‐3 deficiency presenting with two clonally unrelated episodes of mesenteric and subcutaneous panniculitis‐like T‐cell lymphoma and hemophagocytic lymphohistiocytosis |
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