ecancermedicalscience

Short Communication

Should all paediatric osteosarcoma patients be tested for germline TP53 variants? Insights from a single centre sarcoma unit from India

10 Sep 2026
Badira Cheriyalinkal Parambil, Rajiv Sarin, Sharmishtha Bhattacharya, Girish Chinnaswamy

Western studies report germline TP53 pathogenic variants in 5%–10% of paediatric osteosarcoma cases. Data from the Indian subcontinent are lacking. We retrospectively analysed 23 children (≤15 years) with osteosarcoma, unselected for personal or family history and treated between January 2020 and July 2025 using next generation sequencing cancer predisposition panels (26-, 84- and 94-gene). No patients had consanguinity or stigmata of syndromic predisposition, and only 17.4% had a family cancer history. Germline TP53 pathogenic/likely pathogenic variants were detected in 13% (n = 3). These findings support consideration of germline TP53 testing in paediatric osteosarcoma in low- and middle-income countries wherever feasible, though cost and access barriers remain.

Related Articles

Pavan Raju Kola, Amith Paruchuri, Nimisha Preman, Hemavathi Baskarane, Vishakha Hooda, Aparna Sharma, Ishaan Gupta, Saran Kumar, Shilpi Minocha, Pranay Tanwar, Mohit Kumar Divakar, Atul Batra
Pablo Companys, Tomas Soule, Mariano Aymar, María Natalia Gandur Quiroga, Rosalía Hinojosa Altamirano, Marcelo Fogtman, Augusto Ferreyra Camacho, Rodrigo Sánchez, Gonzalo Taetti, Gabriela Gatica, Natalia Soto, María Elisa Arroyo, Nicolas Mainardi, Carolina Passarella, Andrea Marchioni, Ignacio Jerez, María Pía Domínguez, Emiliano Menna, Harold Somerville, Ernesto Korbenfeld, Florencia Sarru, Karina Peters, Iván Macharashvili, Federico Losco, Laura Pelagatti Santoni, Mauricio Fernández Lazaro, José Zarba, Mabel Gill, Juan Pablo Sade, Federico Cayol
Leonardo G Da Fonseca, Duilio Reis da Rocha Filho, Aline Lopes Chagas, Alexandre Jacome, Leila Moreira Beltrao Pereira, Rogerio Alves, Mario Reis Alvares-da-Silva, Mauro Donadio, Ana Paula Victorino, Federico Piñero, Cassia Guedes Leal
Zakayo Ernesti, Emanuel Lugina, Chacha J Mwita, Felister Tupa, Herriethsiah S Noah, John R Ngowi, Charles Wood, Julius Mwaiselage, Salum J Lidenge
Ryan R. Lion, Glenn Mbah, Nathalie De Sousa Santos, Anne Gagnepain-Lacheteau, Karim Assani, Aissata Barry, Viviane Bissyande, Chantal Bouda, Aleine Budiongo, Isaac Bahati Chuma, Line Couitchéré, Fatou Binetou Diagne Akondé, Mame Ndella Diouf, Aimée Kissou, Robert Lukamba Mbuli, Boubacar Togo, Kan Paulin Yao, Yao Atteby Jean Jacques, Lea Zaho, Ekhtelbenina Zein, Isatou Bah Madison, Laila Hessissen
Prasanth Srinivasan, Gargi Das, Balaji Thiruvengadam Kothandan, Gautam Vydia Vedagiri, Anand Raja, Venkatraman Radhakrishnan