Constitutional mismatch repair deficiency syndrome: Do we know it?
Constitutional mismatch repair deficiency syndrome is a rare autosomal recessive syndrome caused by homozygous mutations in mismatch repair genes. This is characterized by the childhood onset of brain tumors, colorectal cancers, cutaneous manifestations of neurofibromatosis-1 like café au lait spots, hematological malignancies, and occasionally other rare malignancies. Here, we would like to present a family in which the sibling had glioblastoma, and the present case had acute lymphoblastic lymphoma and colorectal cancer. We would like to present this case because of its rarity and would add to literature.
Department of Surgical Oncology, Kidwai Memorial Institute of Oncology, Bengaluru, Karnataka, India.
C
C
Ramachandra
Department of Surgical Oncology, Kidwai Memorial Institute of Oncology, Bengaluru, Karnataka, India.
Vasu Reddy
VR
Challa
Department of Medical Oncology, Kidwai Memorial Institute of Oncology, Bengaluru, Karnataka, India.
Rachan
R
Shetty
Constitutional mismatch repair deficiency; Lynch syndrome; hereditary nonpolyposis colorectal cancer; mismatch repair genes