The BCOR-rearranged sarcoma involving the lung: Diagnosis with clinical outcome and literature review
BCOR-rearranged sarcomas (BRS) constitute relatively newly described sarcomas, which, within the musculoskeletal sites, usually occur in the bones, followed by soft tissues. Primary BRS involving the visceral organs is very rare, and only a single case is reported in the lung. These tumors share ove...
Saved in:
| Main Authors: | , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2024-12-01
|
| Series: | Indian Journal of Pathology and Microbiology |
| Subjects: | |
| Online Access: | https://journals.lww.com/10.4103/ijpm.ijpm_569_24 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1841549978058620928 |
|---|---|
| author | Rakesh K. Gupta Bharat Rekhi Mehar C. Sharma Ranganath Ganga Mudalsha Ravina Amit Kumar Dibakar Sahu |
| author_facet | Rakesh K. Gupta Bharat Rekhi Mehar C. Sharma Ranganath Ganga Mudalsha Ravina Amit Kumar Dibakar Sahu |
| author_sort | Rakesh K. Gupta |
| collection | DOAJ |
| description | BCOR-rearranged sarcomas (BRS) constitute relatively newly described sarcomas, which, within the musculoskeletal sites, usually occur in the bones, followed by soft tissues. Primary BRS involving the visceral organs is very rare, and only a single case is reported in the lung. These tumors share overlapping morphological and immunohistochemical (IHC) features with other neoplasms, such as synovial sarcoma, Ewing sarcoma, as well as carcinosarcoma, the latter especially when occurring in the visceral organs. BCOR immunostaining is useful in triaging a tumor for molecular diagnosis, which constitutes the “essential” diagnostic criterion for these tumors. To report an extremely rare case of a BRS, confirmed by BCOR-rearrangement by fluorescence in situ hybridization (FISH), primarily occurring in the lung, emphasizing the diagnostic approach and management, along with review of literature. An18-year-old boy presented with complaints of left-sided chest pain, along with cough, fever, loss of appetite, and weight. On radio imaging, there was a complete collapse of the left lower lobe of lung with moderate pleural effusion. The biopsy showed a biphasic tumor comprising primitive round cells admixed with spindle cells. Immunohistochemically, the tumor cells were positive for BCOR, TLE1, and p53. FISH showed BCOR gene rearrangement. A diagnosis of primary BRS of lung was offered. The patient had a favorable response to the chemotherapy regime. BRS is an ultra-rare tumor, which rarely involves visceral organs. The lung is an exceptionally rare site, with only single reported case previously. An exact confirmation by molecular testing has treatment-associated implications. A review of similar reported cases is presented herewith. |
| format | Article |
| id | doaj-art-0b322954133347ce9e82ed56de2aa1bb |
| institution | Kabale University |
| issn | 0377-4929 0974-5130 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Indian Journal of Pathology and Microbiology |
| spelling | doaj-art-0b322954133347ce9e82ed56de2aa1bb2025-01-10T10:25:37ZengWolters Kluwer Medknow PublicationsIndian Journal of Pathology and Microbiology0377-49290974-51302024-12-0167486586910.4103/ijpm.ijpm_569_24The BCOR-rearranged sarcoma involving the lung: Diagnosis with clinical outcome and literature reviewRakesh K. GuptaBharat RekhiMehar C. SharmaRanganath GangaMudalsha RavinaAmit KumarDibakar SahuBCOR-rearranged sarcomas (BRS) constitute relatively newly described sarcomas, which, within the musculoskeletal sites, usually occur in the bones, followed by soft tissues. Primary BRS involving the visceral organs is very rare, and only a single case is reported in the lung. These tumors share overlapping morphological and immunohistochemical (IHC) features with other neoplasms, such as synovial sarcoma, Ewing sarcoma, as well as carcinosarcoma, the latter especially when occurring in the visceral organs. BCOR immunostaining is useful in triaging a tumor for molecular diagnosis, which constitutes the “essential” diagnostic criterion for these tumors. To report an extremely rare case of a BRS, confirmed by BCOR-rearrangement by fluorescence in situ hybridization (FISH), primarily occurring in the lung, emphasizing the diagnostic approach and management, along with review of literature. An18-year-old boy presented with complaints of left-sided chest pain, along with cough, fever, loss of appetite, and weight. On radio imaging, there was a complete collapse of the left lower lobe of lung with moderate pleural effusion. The biopsy showed a biphasic tumor comprising primitive round cells admixed with spindle cells. Immunohistochemically, the tumor cells were positive for BCOR, TLE1, and p53. FISH showed BCOR gene rearrangement. A diagnosis of primary BRS of lung was offered. The patient had a favorable response to the chemotherapy regime. BRS is an ultra-rare tumor, which rarely involves visceral organs. The lung is an exceptionally rare site, with only single reported case previously. An exact confirmation by molecular testing has treatment-associated implications. A review of similar reported cases is presented herewith.https://journals.lww.com/10.4103/ijpm.ijpm_569_24bcor immunohistochemistrybcor-rearranged sarcomaewing sarcomafluorescence in situ hybridizationrare lung tumors |
| spellingShingle | Rakesh K. Gupta Bharat Rekhi Mehar C. Sharma Ranganath Ganga Mudalsha Ravina Amit Kumar Dibakar Sahu The BCOR-rearranged sarcoma involving the lung: Diagnosis with clinical outcome and literature review Indian Journal of Pathology and Microbiology bcor immunohistochemistry bcor-rearranged sarcoma ewing sarcoma fluorescence in situ hybridization rare lung tumors |
| title | The BCOR-rearranged sarcoma involving the lung: Diagnosis with clinical outcome and literature review |
| title_full | The BCOR-rearranged sarcoma involving the lung: Diagnosis with clinical outcome and literature review |
| title_fullStr | The BCOR-rearranged sarcoma involving the lung: Diagnosis with clinical outcome and literature review |
| title_full_unstemmed | The BCOR-rearranged sarcoma involving the lung: Diagnosis with clinical outcome and literature review |
| title_short | The BCOR-rearranged sarcoma involving the lung: Diagnosis with clinical outcome and literature review |
| title_sort | bcor rearranged sarcoma involving the lung diagnosis with clinical outcome and literature review |
| topic | bcor immunohistochemistry bcor-rearranged sarcoma ewing sarcoma fluorescence in situ hybridization rare lung tumors |
| url | https://journals.lww.com/10.4103/ijpm.ijpm_569_24 |
| work_keys_str_mv | AT rakeshkgupta thebcorrearrangedsarcomainvolvingthelungdiagnosiswithclinicaloutcomeandliteraturereview AT bharatrekhi thebcorrearrangedsarcomainvolvingthelungdiagnosiswithclinicaloutcomeandliteraturereview AT meharcsharma thebcorrearrangedsarcomainvolvingthelungdiagnosiswithclinicaloutcomeandliteraturereview AT ranganathganga thebcorrearrangedsarcomainvolvingthelungdiagnosiswithclinicaloutcomeandliteraturereview AT mudalsharavina thebcorrearrangedsarcomainvolvingthelungdiagnosiswithclinicaloutcomeandliteraturereview AT amitkumar thebcorrearrangedsarcomainvolvingthelungdiagnosiswithclinicaloutcomeandliteraturereview AT dibakarsahu thebcorrearrangedsarcomainvolvingthelungdiagnosiswithclinicaloutcomeandliteraturereview AT rakeshkgupta bcorrearrangedsarcomainvolvingthelungdiagnosiswithclinicaloutcomeandliteraturereview AT bharatrekhi bcorrearrangedsarcomainvolvingthelungdiagnosiswithclinicaloutcomeandliteraturereview AT meharcsharma bcorrearrangedsarcomainvolvingthelungdiagnosiswithclinicaloutcomeandliteraturereview AT ranganathganga bcorrearrangedsarcomainvolvingthelungdiagnosiswithclinicaloutcomeandliteraturereview AT mudalsharavina bcorrearrangedsarcomainvolvingthelungdiagnosiswithclinicaloutcomeandliteraturereview AT amitkumar bcorrearrangedsarcomainvolvingthelungdiagnosiswithclinicaloutcomeandliteraturereview AT dibakarsahu bcorrearrangedsarcomainvolvingthelungdiagnosiswithclinicaloutcomeandliteraturereview |