Challenges in Diagnosing Diaphyseal Osteosarcoma – Importance of Strong Clinical Suspicion and Biopsy Technique: An Illustrative Case Report

Introduction: Osteosarcoma is the most common primary malignant bone tumor in adolescents, typically affecting the metaphyseal region of long bones. Diaphyseal osteosarcoma is rare and often mimics benign conditions such as osteomyelitis, leading to diagnostic delays. Case Report: A 17-year-old boy...

Full description

Saved in:
Bibliographic Details
Main Authors: V Balaji, Mohammed Tavfiq, Subalakshmi Balasubramanian, J K Giriraj Harshavardhan, Sabare Naaharaaj
Format: Article
Language:English
Published: Indian Orthopaedic Research Group 2025-08-01
Series:Journal of Orthopaedic Case Reports
Subjects:
Online Access:https://jocr.co.in/wp/2025/08/01/challenges-in-diagnosing-diaphyseal-osteosarcoma-importance-of-strong-clinical-suspicion-and-biopsy-technique-an-illustrative-case-report/
Tags: Add Tag
No Tags, Be the first to tag this record!
_version_ 1849405160787279872
author V Balaji
Mohammed Tavfiq
Subalakshmi Balasubramanian
J K Giriraj Harshavardhan
Sabare Naaharaaj
author_facet V Balaji
Mohammed Tavfiq
Subalakshmi Balasubramanian
J K Giriraj Harshavardhan
Sabare Naaharaaj
author_sort V Balaji
collection DOAJ
description Introduction: Osteosarcoma is the most common primary malignant bone tumor in adolescents, typically affecting the metaphyseal region of long bones. Diaphyseal osteosarcoma is rare and often mimics benign conditions such as osteomyelitis, leading to diagnostic delays. Case Report: A 17-year-old boy presented with progressive left thigh pain and swelling for 3 months. He had a trivial injury to left thigh 7 months back while playing kabaddi. Initial radiographs, computed tomography (CT), and magnetic resonance imaging showed a lytic intramedullary lesion with cortical thickening, suggestive of osteomyelitis. CT-guided biopsy also revealed features consistent with chronic osteomyelitis. Later debridement with open biopsy confirmed increased reactive osteoclastic giant cells, suggestive of chronic healed osteomyelitis. Despite empirical antibiotic treatment, symptoms worsened. A second open biopsy with intraoperative frozen section (FS) revealed features of high-grade osteosarcoma. Histopathological confirmation and immunohistochemistry with SATB2 established the diagnosis. The patient was treated with neoadjuvant chemotherapy followed by resection and femur reconstruction with a custom prosthesis. Discussion: This case illustrates the diagnostic pitfalls associated with diaphyseal osteosarcoma, especially in post-traumatic settings. It has also been observed in previous research studies that early overlapping clinical and radiological features with osteomyelitis often result in misdiagnosis. Needle biopsies, while minimally invasive, may yield non-representative samples, especially in heterogeneous tumors. Open biopsy targeting the lesion’s transition zone, supported by intraoperative FS, enhances diagnostic accuracy and enables timely intervention. Conclusion: In atypical presentations of musculoskeletal pain and swelling unresponsive to conservative treatment, malignancy should be suspected. A multidisciplinary approach, early advanced imaging, and appropriately planned biopsies are critical for accurate diagnosis and effective management of osteosarcoma.
format Article
id doaj-art-2bbe3acbce684ee0a9bec8f287b45c90
institution Kabale University
issn 2250-0685
2321-3817
language English
publishDate 2025-08-01
publisher Indian Orthopaedic Research Group
record_format Article
series Journal of Orthopaedic Case Reports
spelling doaj-art-2bbe3acbce684ee0a9bec8f287b45c902025-08-20T03:36:45ZengIndian Orthopaedic Research GroupJournal of Orthopaedic Case Reports2250-06852321-38172025-08-0115818419010.13107/jocr.2025.v15.i08.5934Challenges in Diagnosing Diaphyseal Osteosarcoma – Importance of Strong Clinical Suspicion and Biopsy Technique: An Illustrative Case ReportV BalajiMohammed TavfiqSubalakshmi BalasubramanianJ K Giriraj HarshavardhanSabare NaaharaajIntroduction: Osteosarcoma is the most common primary malignant bone tumor in adolescents, typically affecting the metaphyseal region of long bones. Diaphyseal osteosarcoma is rare and often mimics benign conditions such as osteomyelitis, leading to diagnostic delays. Case Report: A 17-year-old boy presented with progressive left thigh pain and swelling for 3 months. He had a trivial injury to left thigh 7 months back while playing kabaddi. Initial radiographs, computed tomography (CT), and magnetic resonance imaging showed a lytic intramedullary lesion with cortical thickening, suggestive of osteomyelitis. CT-guided biopsy also revealed features consistent with chronic osteomyelitis. Later debridement with open biopsy confirmed increased reactive osteoclastic giant cells, suggestive of chronic healed osteomyelitis. Despite empirical antibiotic treatment, symptoms worsened. A second open biopsy with intraoperative frozen section (FS) revealed features of high-grade osteosarcoma. Histopathological confirmation and immunohistochemistry with SATB2 established the diagnosis. The patient was treated with neoadjuvant chemotherapy followed by resection and femur reconstruction with a custom prosthesis. Discussion: This case illustrates the diagnostic pitfalls associated with diaphyseal osteosarcoma, especially in post-traumatic settings. It has also been observed in previous research studies that early overlapping clinical and radiological features with osteomyelitis often result in misdiagnosis. Needle biopsies, while minimally invasive, may yield non-representative samples, especially in heterogeneous tumors. Open biopsy targeting the lesion’s transition zone, supported by intraoperative FS, enhances diagnostic accuracy and enables timely intervention. Conclusion: In atypical presentations of musculoskeletal pain and swelling unresponsive to conservative treatment, malignancy should be suspected. A multidisciplinary approach, early advanced imaging, and appropriately planned biopsies are critical for accurate diagnosis and effective management of osteosarcoma.https://jocr.co.in/wp/2025/08/01/challenges-in-diagnosing-diaphyseal-osteosarcoma-importance-of-strong-clinical-suspicion-and-biopsy-technique-an-illustrative-case-report/osteosarcomaosteomyelitiscomputed tomography-guided biopsyfrozen sectionopen biopsy
spellingShingle V Balaji
Mohammed Tavfiq
Subalakshmi Balasubramanian
J K Giriraj Harshavardhan
Sabare Naaharaaj
Challenges in Diagnosing Diaphyseal Osteosarcoma – Importance of Strong Clinical Suspicion and Biopsy Technique: An Illustrative Case Report
Journal of Orthopaedic Case Reports
osteosarcoma
osteomyelitis
computed tomography-guided biopsy
frozen section
open biopsy
title Challenges in Diagnosing Diaphyseal Osteosarcoma – Importance of Strong Clinical Suspicion and Biopsy Technique: An Illustrative Case Report
title_full Challenges in Diagnosing Diaphyseal Osteosarcoma – Importance of Strong Clinical Suspicion and Biopsy Technique: An Illustrative Case Report
title_fullStr Challenges in Diagnosing Diaphyseal Osteosarcoma – Importance of Strong Clinical Suspicion and Biopsy Technique: An Illustrative Case Report
title_full_unstemmed Challenges in Diagnosing Diaphyseal Osteosarcoma – Importance of Strong Clinical Suspicion and Biopsy Technique: An Illustrative Case Report
title_short Challenges in Diagnosing Diaphyseal Osteosarcoma – Importance of Strong Clinical Suspicion and Biopsy Technique: An Illustrative Case Report
title_sort challenges in diagnosing diaphyseal osteosarcoma importance of strong clinical suspicion and biopsy technique an illustrative case report
topic osteosarcoma
osteomyelitis
computed tomography-guided biopsy
frozen section
open biopsy
url https://jocr.co.in/wp/2025/08/01/challenges-in-diagnosing-diaphyseal-osteosarcoma-importance-of-strong-clinical-suspicion-and-biopsy-technique-an-illustrative-case-report/
work_keys_str_mv AT vbalaji challengesindiagnosingdiaphysealosteosarcomaimportanceofstrongclinicalsuspicionandbiopsytechniqueanillustrativecasereport
AT mohammedtavfiq challengesindiagnosingdiaphysealosteosarcomaimportanceofstrongclinicalsuspicionandbiopsytechniqueanillustrativecasereport
AT subalakshmibalasubramanian challengesindiagnosingdiaphysealosteosarcomaimportanceofstrongclinicalsuspicionandbiopsytechniqueanillustrativecasereport
AT jkgirirajharshavardhan challengesindiagnosingdiaphysealosteosarcomaimportanceofstrongclinicalsuspicionandbiopsytechniqueanillustrativecasereport
AT sabarenaaharaaj challengesindiagnosingdiaphysealosteosarcomaimportanceofstrongclinicalsuspicionandbiopsytechniqueanillustrativecasereport