ecancermedicalscience

Research

A rare case of clear cell sarcoma of the foot with a cascade of pathological misdiagnosis – the importance of expert sarcoma pathology

31 Oct 2022
Anand Rajendran, Gaurav Gupta, Adarsh Barwad, Sameer Rastogi

Sarcoma pathology discrepancy is well known owing to the extremely heterogenous and rare nature of this tumour. Through this case, we want to highlight the difficulty that a patient has to undergo in a case of misdiagnosis. A 20-year-old male presented with swelling in the right foot for 4 months, which was initially diagnosed as alveolar rhabdomyosarcoma, subsequently as synovial sarcoma and finally as Ewing’s sarcoma (based upon positive Ewing Sarcoma Breakpoint Region 1 (EWSR1) by fluorescence in situ hybridisation and he underwent neoadjuvant chemotherapy and surgical excision with grafting before he presented to our institute, where the pathologists reviewed the biopsy slides, which were positive for HMB45 and negative for Melan-A suggestive of clear cell sarcoma. The next-generation sequencing suggested EWSR1-ATF1 fusion, which again reinforced the diagnosis. This case throws light on the importance of expert pathology and interpreting molecular results in the right context.

Related Articles

Sanal Fernandes, Sameer Rastogi, Kanu Priya Bhatia, Sindhura Chitikela, Shamim A Shamim, Shivanand Gammanagatti, Adarsh Barwad
Joseph Daniels, Onesmus Iinekela Amunyela, Andrew Yaw Nyantakyi, Edwina Ayaaba Ayabilah, Judith Naa Odey Tackie, Kofi Adesi Kyei
Gustavo Hipólito Diaz Infantes, Edgar Fermín Yan Quiroz, Luis Fernando Meza Montoya, José Richard Tenazoa Villalobos
Oluwaseyi K Idowu, Adewumi O Alabi, Ibijoke A Idowu, Opeyemi I Olusunmade, Bright A Igbinoba, Abdulwahab Ajani, Mohammed Y M Habeebu, Jane U Igwilo, Kolawole O Aramide, Eyitayo O Alabi, Fatimah B Abdulkareem, Samuel U Eyesan, Suleiman O Giwa
Francis Okongo, Catherine Amuge, Alfred Jatho, Nixon Niyonzima, David Martin Ogwang, Jackson Orem