Recurrent novel THBS1-ADGRF5 gene fusion in a new tumor subtype “Acral FibroChondroMyxoid Tumors”
Acral soft tissue tumors are common neoplasms, a subset of which pose a diagnostic challenge. We report 10 cases of a previously unrecognized acral benign soft tissue tumor. These tumors arose on the fingers and toes and involved bone in half of cases. Histologically, the tumors were lobulated and d...
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| Veröffentlicht in: | Modern pathology 2020-07, Vol.33 (7), p.1360-1368 |
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| creator | Bouvier, Corinne Le Loarer, François Macagno, Nicolas Aubert, Sébastien Audard, Virginie Geneste, Damien Gomez-Brouchet, Anne Guinebretière, Jean-Marc Larousserie, Frédérique Pissaloux, Daniel Marie, Béatrice Tirode, Franck Baud, Jessica De Pinieux, Gonzague |
| description | Acral soft tissue tumors are common neoplasms, a subset of which pose a diagnostic challenge. We report 10 cases of a previously unrecognized acral benign soft tissue tumor. These tumors arose on the fingers and toes and involved bone in half of cases. Histologically, the tumors were lobulated and displayed an abundant stroma made of variable fibrous, chondroid and myxoid material reminiscent of cartilaginous or myoepithelial differentiation. Tumor cells harbored small round to reniform nuclei with clear chromatin and inconspicuous nucleoli along with scant eosinophilic cytoplasm. The cells were mostly arranged haphazardly in the stroma but also in small clusters. No mitotic activity was detected. No specific feature was identified in recurrent cases. By immunohistochemistry, the cells consistently stained for CD34 (10/10), ERG (9/10), and SOX9 (7/10). Whole RNA sequencing identified a previously undescribed recurrent in frame
THBS1-ADGRF5
gene fusion in all cases. The transcript was confirmed by RT-PCR and was not found in the control group of mimickers including soft tissue chondromas. We propose the name of Acral FibroChondroMyxoid Tumors for this new entity. |
| doi_str_mv | 10.1038/s41379-020-0493-4 |
| format | Article |
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THBS1-ADGRF5
gene fusion in all cases. The transcript was confirmed by RT-PCR and was not found in the control group of mimickers including soft tissue chondromas. We propose the name of Acral FibroChondroMyxoid Tumors for this new entity.</description><identifier>ISSN: 0893-3952</identifier><identifier>EISSN: 1530-0285</identifier><identifier>DOI: 10.1038/s41379-020-0493-4</identifier><identifier>PMID: 32047233</identifier><language>eng</language><publisher>New York: Nature Publishing Group US</publisher><subject>13/51 ; 38/77 ; 38/91 ; 692/53/2421 ; 692/698 ; Adult ; Bone tumors ; CD34 antigen ; Cell differentiation ; Chromatin ; Cytoplasm ; Female ; Fingers - pathology ; Gene fusion ; Human health and pathology ; Humans ; Immunohistochemistry ; Laboratory Medicine ; Leukocytes (eosinophilic) ; Life Sciences ; Male ; Medicine ; Medicine & Public Health ; Middle Aged ; Neoplasia ; Neoplasms, Connective Tissue - genetics ; Nucleoli ; Oncogene Fusion - genetics ; Pathology ; Polymerase chain reaction ; Receptors, G-Protein-Coupled - genetics ; Ribonucleic acid ; RNA ; Soft Tissue Neoplasms - genetics ; Sox9 protein ; Stroma ; Thrombospondin 1 - genetics ; Toes - pathology ; Transcription ; Tumor cells ; Tumors</subject><ispartof>Modern pathology, 2020-07, Vol.33 (7), p.1360-1368</ispartof><rights>The Author(s), under exclusive licence to United States & Canadian Academy of Pathology 2020</rights><rights>The Author(s), under exclusive licence to United States & Canadian Academy of Pathology 2020.</rights><rights>Distributed under a Creative Commons Attribution 4.0 International License</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c477t-9aeb41f206ef451b4176472498ba1120afcda6ff9b93252597132070b50263c03</citedby><cites>FETCH-LOGICAL-c477t-9aeb41f206ef451b4176472498ba1120afcda6ff9b93252597132070b50263c03</cites><orcidid>0000-0002-9882-2162 ; 0000-0001-8582-9819 ; 0000-0003-4731-7817</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.proquest.com/docview/2474988887?pq-origsite=primo$$EHTML$$P50$$Gproquest$$H</linktohtml><link.rule.ids>230,314,776,780,881,27903,27904,64362,64364,64366,72216</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/32047233$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://amu.hal.science/hal-03156743$$DView record in HAL$$Hfree_for_read</backlink></links><search><creatorcontrib>Bouvier, Corinne</creatorcontrib><creatorcontrib>Le Loarer, François</creatorcontrib><creatorcontrib>Macagno, Nicolas</creatorcontrib><creatorcontrib>Aubert, Sébastien</creatorcontrib><creatorcontrib>Audard, Virginie</creatorcontrib><creatorcontrib>Geneste, Damien</creatorcontrib><creatorcontrib>Gomez-Brouchet, Anne</creatorcontrib><creatorcontrib>Guinebretière, Jean-Marc</creatorcontrib><creatorcontrib>Larousserie, Frédérique</creatorcontrib><creatorcontrib>Pissaloux, Daniel</creatorcontrib><creatorcontrib>Marie, Béatrice</creatorcontrib><creatorcontrib>Tirode, Franck</creatorcontrib><creatorcontrib>Baud, Jessica</creatorcontrib><creatorcontrib>De Pinieux, Gonzague</creatorcontrib><title>Recurrent novel THBS1-ADGRF5 gene fusion in a new tumor subtype “Acral FibroChondroMyxoid Tumors”</title><title>Modern pathology</title><addtitle>Mod Pathol</addtitle><addtitle>Mod Pathol</addtitle><description>Acral soft tissue tumors are common neoplasms, a subset of which pose a diagnostic challenge. We report 10 cases of a previously unrecognized acral benign soft tissue tumor. These tumors arose on the fingers and toes and involved bone in half of cases. Histologically, the tumors were lobulated and displayed an abundant stroma made of variable fibrous, chondroid and myxoid material reminiscent of cartilaginous or myoepithelial differentiation. Tumor cells harbored small round to reniform nuclei with clear chromatin and inconspicuous nucleoli along with scant eosinophilic cytoplasm. The cells were mostly arranged haphazardly in the stroma but also in small clusters. No mitotic activity was detected. No specific feature was identified in recurrent cases. By immunohistochemistry, the cells consistently stained for CD34 (10/10), ERG (9/10), and SOX9 (7/10). Whole RNA sequencing identified a previously undescribed recurrent in frame
THBS1-ADGRF5
gene fusion in all cases. The transcript was confirmed by RT-PCR and was not found in the control group of mimickers including soft tissue chondromas. 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We report 10 cases of a previously unrecognized acral benign soft tissue tumor. These tumors arose on the fingers and toes and involved bone in half of cases. Histologically, the tumors were lobulated and displayed an abundant stroma made of variable fibrous, chondroid and myxoid material reminiscent of cartilaginous or myoepithelial differentiation. Tumor cells harbored small round to reniform nuclei with clear chromatin and inconspicuous nucleoli along with scant eosinophilic cytoplasm. The cells were mostly arranged haphazardly in the stroma but also in small clusters. No mitotic activity was detected. No specific feature was identified in recurrent cases. By immunohistochemistry, the cells consistently stained for CD34 (10/10), ERG (9/10), and SOX9 (7/10). Whole RNA sequencing identified a previously undescribed recurrent in frame
THBS1-ADGRF5
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| ispartof | Modern pathology, 2020-07, Vol.33 (7), p.1360-1368 |
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| source | MEDLINE; EZB-FREE-00999 freely available EZB journals; ProQuest Central UK/Ireland; Alma/SFX Local Collection |
| subjects | 13/51 38/77 38/91 692/53/2421 692/698 Adult Bone tumors CD34 antigen Cell differentiation Chromatin Cytoplasm Female Fingers - pathology Gene fusion Human health and pathology Humans Immunohistochemistry Laboratory Medicine Leukocytes (eosinophilic) Life Sciences Male Medicine Medicine & Public Health Middle Aged Neoplasia Neoplasms, Connective Tissue - genetics Nucleoli Oncogene Fusion - genetics Pathology Polymerase chain reaction Receptors, G-Protein-Coupled - genetics Ribonucleic acid RNA Soft Tissue Neoplasms - genetics Sox9 protein Stroma Thrombospondin 1 - genetics Toes - pathology Transcription Tumor cells Tumors |
| title | Recurrent novel THBS1-ADGRF5 gene fusion in a new tumor subtype “Acral FibroChondroMyxoid Tumors” |
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