Recurrent Inflammatory Myofibroblastic Tumor of Larynx Harboring a Novel THBS1::ALK Fusion
Inflammatory myofibroblastic tumor (IMT) is a rare soft tissue tumor primarily occurring in the abdominopelvic region of young patients, and it is characterized by spindle-shaped myofibroblasts, or fibroblasts surrounded by inflammatory infiltrate. Herein, we report a case of a 24-year-old male with...
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| Format: | Article |
| Language: | English |
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Wiley
2024-01-01
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| Series: | International Journal of Genomics |
| Online Access: | http://dx.doi.org/10.1155/2024/4937501 |
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| _version_ | 1841561467584774144 |
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| author | Namra Ajmal Stacey M. Gargano Ujwala Gosavi Madalina Tuluc |
| author_facet | Namra Ajmal Stacey M. Gargano Ujwala Gosavi Madalina Tuluc |
| author_sort | Namra Ajmal |
| collection | DOAJ |
| description | Inflammatory myofibroblastic tumor (IMT) is a rare soft tissue tumor primarily occurring in the abdominopelvic region of young patients, and it is characterized by spindle-shaped myofibroblasts, or fibroblasts surrounded by inflammatory infiltrate. Herein, we report a case of a 24-year-old male with a firm submucosal mass in the anterior right vocal fold diagnosed as an IMT that recurred 14 months later. The tumor demonstrated a novel THBS1::ALK fusion containing Exons 1–7 of the thrombospondin 1 (THBS1) gene fused to Exon 19 of the anaplastic lymphoma kinase (ALK) gene via next-generation sequencing with the NextSeq sequencer. The fusion of THBS1 to ALK potentially results in increased expression and constitutive activation of the ALK kinase domain. These findings not only broaden the repertoire of known ALK fusion partners implicated in tumorigenesis but also provide a novel avenue for investigating the etiology of recurrent IMT by considering this fusion event as a causal factor. To our knowledge, this is the second case of IMT of the larynx with this novel mutation reported in the literature and the first such case with a detailed description of this specific fusion and clinical recurrence. |
| format | Article |
| id | doaj-art-1e876428d7b74b0f8b62067f98cc5bb5 |
| institution | Kabale University |
| issn | 2314-4378 |
| language | English |
| publishDate | 2024-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | International Journal of Genomics |
| spelling | doaj-art-1e876428d7b74b0f8b62067f98cc5bb52025-01-03T01:34:45ZengWileyInternational Journal of Genomics2314-43782024-01-01202410.1155/2024/4937501Recurrent Inflammatory Myofibroblastic Tumor of Larynx Harboring a Novel THBS1::ALK FusionNamra Ajmal0Stacey M. Gargano1Ujwala Gosavi2Madalina Tuluc3Department of Pathology and Genomic MedicineDepartment of Pathology and Genomic MedicineDepartment of Pathology and Genomic MedicineDepartment of Pathology and Genomic MedicineInflammatory myofibroblastic tumor (IMT) is a rare soft tissue tumor primarily occurring in the abdominopelvic region of young patients, and it is characterized by spindle-shaped myofibroblasts, or fibroblasts surrounded by inflammatory infiltrate. Herein, we report a case of a 24-year-old male with a firm submucosal mass in the anterior right vocal fold diagnosed as an IMT that recurred 14 months later. The tumor demonstrated a novel THBS1::ALK fusion containing Exons 1–7 of the thrombospondin 1 (THBS1) gene fused to Exon 19 of the anaplastic lymphoma kinase (ALK) gene via next-generation sequencing with the NextSeq sequencer. The fusion of THBS1 to ALK potentially results in increased expression and constitutive activation of the ALK kinase domain. These findings not only broaden the repertoire of known ALK fusion partners implicated in tumorigenesis but also provide a novel avenue for investigating the etiology of recurrent IMT by considering this fusion event as a causal factor. To our knowledge, this is the second case of IMT of the larynx with this novel mutation reported in the literature and the first such case with a detailed description of this specific fusion and clinical recurrence.http://dx.doi.org/10.1155/2024/4937501 |
| spellingShingle | Namra Ajmal Stacey M. Gargano Ujwala Gosavi Madalina Tuluc Recurrent Inflammatory Myofibroblastic Tumor of Larynx Harboring a Novel THBS1::ALK Fusion International Journal of Genomics |
| title | Recurrent Inflammatory Myofibroblastic Tumor of Larynx Harboring a Novel THBS1::ALK Fusion |
| title_full | Recurrent Inflammatory Myofibroblastic Tumor of Larynx Harboring a Novel THBS1::ALK Fusion |
| title_fullStr | Recurrent Inflammatory Myofibroblastic Tumor of Larynx Harboring a Novel THBS1::ALK Fusion |
| title_full_unstemmed | Recurrent Inflammatory Myofibroblastic Tumor of Larynx Harboring a Novel THBS1::ALK Fusion |
| title_short | Recurrent Inflammatory Myofibroblastic Tumor of Larynx Harboring a Novel THBS1::ALK Fusion |
| title_sort | recurrent inflammatory myofibroblastic tumor of larynx harboring a novel thbs1 alk fusion |
| url | http://dx.doi.org/10.1155/2024/4937501 |
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