PRIMARY PEDIATRIC MYELOFIBROSIS WITH A NOVEL CALRETICULIN GENE MUTATION
- Priyanka Chauhan,
- Anshul Gupta,
- Chandni Bhandary,
- Ruchi Gupta,
- Rajesh Kashyap
Priyanka Chauhan
Sanjay Gandhi Post Graduate Institute of Medical Sciences
Author ProfileChandni Bhandary
Sanjay Gandhi Post Graduate Institute of Medical Sciences
Author ProfileRuchi Gupta
Sanjay Gandhi Post Graduate Institute of Medical Sciences
Author ProfileRajesh Kashyap
Sanjay Gandhi Post Graduate Institute of Medical Sciences
Author ProfileAbstract
Primary myelofibrosis in childhood is a rare occurrence. We report a
case of 12-year-old female who had a three year history of progressive
abdominal distension with two months history of increasing pallor and
associated symptoms. On evaluation she was found to have primary
myelofibrosis with a novel frameshift deletion in the Calreticulin gene
leading to premature truncation of the protein. Patient responded to
hydroxyurea and low dose steroid therapy. Our case highlights the
typical adult like presentation with a novel mutation in CALR gene,
emphasizing the need to perform mutational analysis in pediatric
myelofibrosis with no secondary etiology