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

Ranti Ghosh, Debarshi Lahiri, Debjit Ghosh, Kushal Sen, Debanjan Chakraborty, Tapas Maji, Suparna Mazumder, Ranajit Mandal, Arit Bhattacharjee, Jayanta Chakrabarti
Bartholomeo Nicholaus Ngowi, Alex Mremi, Mshangama Seif, Frank Bright, Godrule Lyimo, Innocent Uggh, Modesta Paschal Mitao, Obadia Nyongole, Orgeness Jasper Mbwambo, Harcharan Gill, Mramba Nyindo, Kien Alfred Mteta, Blandina Theophil Mmbaga
Shubham Dokania, Ajay K Choubey, Shashank Tiwari, Prasenjit Nath, Jhansi Pattanaik, Sambit S Nanda, Ashutosh Mukherji, Satyajit Pradhan
Ahmed A Hammad, Osama Ezzat, Alex Filicevas, Sara A Hammad, Mostafa M Elkady, Mohamed E Eladl, Karim Mosaad, Mohammed M Shalaby, Ahmed A Barakat, Karim Y El-Deeb, Basma A Eldawody, Ghada Elkanishy, Muhammed A Moukhtar Hammad, Ahmed Mosbah
Chinomso Ugochukwu Nwozichi, Omolabake Salako, Anita Frimpomaa Oppong, Margaret Olutosin Ojewale