Glioblastoma and Colorectal Adenocarcinoma in an Adolescent Girl with Constitutional Mismatch Repair Deficiency Syndrome Mimicking Neurofibromatosis Type-I

Mismatch repair deficiency syndrome

  • Firdevs Aydın
  • Derya Altay
  • Orhan Görükmez
  • Aslıhan Hafo Kiraz
  • Filiz Karaman
  • Alper Özcan
  • Ebru Yılmaz
  • Ali Kurtsoy
  • Keramettin Uğur Özkan
  • Kemal Deniz
  • Hüseyin Per
  • Musa Karakukcu
  • Ekrem Ünal
  • Turkan Patıroğlu
Keywords: Adenocarcinoma, adolescent, DNA mismatch repair, neurofibromatosis type 1

Abstract

Children with constitutional mismatch repair deficiency syndrome (CMMRDS) are prone to different types of cancers. A 16-year-old girl who was misdiagnosed with neurofibromatosis Type-I (NF-I) for 1 years had experienced glioblastoma and colonic adenocarcinoma. After operation, chemotherapy and radiotherapy were started for adenocarcinoma. Genetic analysis from the patient, effected brother, and mother showed heterozygote (c.479 + 36A> G) mutation in the intron 4 region of NF-1 gene. Initially, it was thought that this genetic variant was causative. Furthermore, next generation sequencing showed that the index patient and his brother have homozygote (c.1444 C>T) mutations in the MSH6 gene which are associated with CMMRDS both died because of colonic adenocarcinoma, and T cell non-Hodgkin lymphoma, respectively. Patients with CMMRDS may resemble NF-I. The physicians must not be confused with the previous diagnosis. Increased awareness of CMMRDS, and prompt evaluation for an underlying genetic background is advised if there are unexpected cancer in patients with NF-I.

Author Biographies

Firdevs Aydın

Division of Pediatric Hematology and Oncology, Department of Pediatrics, Erciyes University, Faculty of Medicine, Kayseri, Turkey

Derya Altay

Division of Pediatric Gastroenterology, Department of Pediatrics, Erciyes University, Faculty of Medicine, Kayseri, Turkey

Orhan Görükmez

Department of Medical Genetics, Health Sciences University, Bursa Training and Research Hospital, Bursa, Turkey

Aslıhan Hafo Kiraz

Department of Medical Genetics, Health Sciences University, Kayseri Training and Research Hospital, Kayseri, Turkey

Filiz Karaman

Division of Pediatric Radiology, Department of Radiology, Erciyes University, Faculty of Medicine, Kayseri, Turkey

Alper Özcan

Division of Pediatric Hematology and Oncology, Department of Pediatrics, Erciyes University, Faculty of Medicine, Kayseri, Turkey

Ebru Yılmaz

Division of Pediatric Hematology and Oncology, Department of Pediatrics, Erciyes University, Faculty of Medicine, Kayseri, Turkey

Ali Kurtsoy

Department of Neurosurgery, Erciyes University, Faculty of Medicine, Kayseri, Turkey

Keramettin Uğur Özkan

Division of Pediatric Surgery, Erciyes University, Faculty of Medicine, Kayseri, Turkey

Kemal Deniz

Department of Pathology, Erciyes University, Faculty of Medicine, Kayseri, Turkey

Hüseyin Per

Division of Pediatric Neurology, Department of Pediatrics, Erciyes University, Faculty of Medicine, Kayseri, Turkey

Musa Karakukcu

Division of Pediatric Hematology and Oncology, Department of Pediatrics, Erciyes University, Faculty of Medicine, Kayseri, Turkey

Ekrem Ünal

Division of Pediatric Hematology and Oncology, Department of Pediatrics, Erciyes University, Faculty of Medicine, Kayseri, Turkey - Department of Molecular Biology and Genetics, Gevher Nesibe Genom and Stem Cell Institute, Genome and Stem Cell Center (GENKOK), Erciyes University, Kayseri, Turkey

Turkan Patıroğlu

Division of Pediatric Hematology and Oncology, Department of Pediatrics, Erciyes University, Faculty of Medicine, Kayseri, Turkey

Published
2020-07-31
How to Cite
Aydın, F., Altay, D., Görükmez, O., Hafo Kiraz, A., Karaman, F., Özcan, A., Yılmaz, E., Kurtsoy, A., Özkan, K. U., Deniz, K., Per, H., Karakukcu, M., Ünal, E., & Patıroğlu, T. (2020). Glioblastoma and Colorectal Adenocarcinoma in an Adolescent Girl with Constitutional Mismatch Repair Deficiency Syndrome Mimicking Neurofibromatosis Type-I: Mismatch repair deficiency syndrome. The Journal of Pediatric Academy, 1(1), 34-38. Retrieved from https://jpediatricacademy.com/index.php/jpa/article/view/77