TWO SURGICAL CASES OF FAMILIAL CHORDOMA, A SHORT REPORT AND LITERATURE REVIEW

Abstract

Purpose: To report the genetic correlation of familial chordoma, a rare tumour of embryonic notochordal remnant.

Method: We present two patients with a family history of chordoma. Both patients had surgery at our unit, one for a clival and one for a sacral tumour. These two cases comprise 1.14% (2 out of total 175 chordoma cases) of our unit’s surgical experience with chordoma (79 cases involving craniocervical junction, 4 cases involving thoracolumbar spine, 92 cases involving sacral region) over the period of 15 years (1990– 2005). Patient1 had clival chordoma and Patient2 had sacral chordoma. Both the patients had excision of the tumour followed by postoperative radiotherapy and annual follow up. There was no recurrence eight years later in Patient 1 and Patient 2 died three years after the surgery.

Results: Patient 1 had ten other family members affected by chordoma (mostly clival) and Patient 2 had two other family members affected by clival chordoma. Genetic analysis for the Patient 1 and of her relatives (National Cancer Institute, Bethesda) showed that there was loss of heterozygosity on chromosome 7q 33. None of the affected members of the Patient 2 were alive to do the genetic study.

A literature search on genetic studies was performed using the key term as familial chordoma and following studies have been found-

1. Kelly et al- the study had 10 affected members and showed linkage to chromosome 7q 33.

2. Miozszo et al- the study had 3 affected family members and showed tumour suppressor locus on chromosome 1p36.

3. Stepanek et al –the study had affected 4 members in a family and showed probable autosomal dominant inheritance.

Conclusion : Familial chordoma is a very rare tumour. Further genetic studies will hopefully reveal valuable insight into the pathogenesis and possible therapeutic measures of this tumour.