ecancermedicalscience

Case Report

Fumarate hydratase-deficient renal cell carcinoma in extended remission with bevacizumab and erlotinib

30 May 2022
Shubham Tomar, Lakhan Kashyap, Akhil Kapoor

Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is an autosomal dominant syndrome associated with fumarate hydratase (FH) gene mutation leading to defective DNA double-strand break repair mechanism. Although these tumours have an aggressive presentation, they respond well to targeted therapy with fewer adverse effects. Here we present a case of a 42-year-old female having isolated renal cell carcinoma, papillary type 2, carrying a mutation in the FH gene without cutaneous and uterine involvement. Her tumour responded well to erlotinib and bevacizumab combination and she was on treatment for 23 months. This report adds to the current literature and can help to define treatment protocols for HLRCC.

Related Articles

Suresh Kumar Bondili, Ravindra Nandhana, Aditya Dhanawat, Vanita Noronha, Amit Joshi, Vijay Maruti Patil, Nandini Menon, Rajiv Kumar Kaushal, Anuradha Choughule, Sabita S Jiwnani, Amit Janu, Kumar Prabhash
Rogério Agenor de Araújo, Felipe Andrés Cordero da Luz, Eduarda da Costa Marinho, Camila Piqui Nascimento, Lara de Andrade Marques, Patrícia Ferreira Ribeiro Delfino, Rafael Mathias Antonioli, Breno Jeha Araújo, Ana Cristina Araújo Lemos da Silva, Maria Luiza Gonçalves dos Reis Monteiro, Morun Bernardino Neto, Marcelo José Barbosa Silva
Priyal Chakravarti, Amita Maheshwari, Shweta Tahlan, Prithviraj Kadam, Sonali Bagal, Suvarna Gore, Nandkumar Panse, Kedar Deodhar, Pankaj Chaturvedi, Rajesh Dikshit, Atul Budukh
Danny Darlington Carbin Joseph, Jagatheswaran Chinnathambi, Arunkumar Jamburaj
Nicolas Panzardi, Matias Mihura-Irribarra, Daniela Speisky, Joaquin Fernandez-Alberti, Mariana Toffolo Pasquini, Pablo Dezanzo, Daniel Enrique Pirchi