Poorly Differentiated Chordoma — Variants & evidence

Poorly Differentiated Chordoma — Variants & evidence · CancerIndex

Variants & evidence

Curated clinical evidence by variant and therapy

9 evidence items mapped to this entity or its descendants, grouped by molecular profile, then therapy. 50 items per page.

civicCuratedShowing 1–9 of 9 evidence items · levels, directions and significance as curated at the source; each row links to its CIViC record.

Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
SMARCB1 Deletion1
(diagnostic)	Diagnostic	B	Supports Positive	2	rejected	EID11179 Copy number profiling revealed loss of chromosome 22q including the SMARCB1 locus as the only recurrent alteration in 7 of 7 poorly differentiated chordomas. FISH or MLPA was used to confirm heterozy… (full text at CIViC) PMID 27067307 · Hasselblatt et al., 2016 · Open in CIViC	civic
SMARCB1 Loss6
(diagnostic)	Diagnostic	B	Supports Positive	3	submitted	EID11170 All 7 of 7 poorly differentiated chordomas exhibited loss of SMARCB1 expression while SMARCB1 expression was retained in 14 conventional chordomas. Copy number profiling revealed loss of chromosome 2… (full text at CIViC) PMID 27067307 · Hasselblatt et al., 2016 · Open in CIViC	civic
〃	Diagnostic	B	Supports Positive	2	submitted	EID11336 9 of 9 poorly differentiated chordomas tested by IHC exhibited loss of SMARCB1 expression. 7 of 8 tested by FISH showed homozygous deletion of SMARCB1. PMID 29119645 · Owosho et al., 2018 · Open in CIViC	civic
(prognostic)	Prognostic	B	Supports Poor Outcome	2	submitted	EID11337 Seven pediatric patients with poorly differentiated chordomas, associated with loss of SMARCB1, had a median overall survival of 9 months (95% confidence level of 6 to 12 months). PMID 27067307 ·
TBX2 Expression1
(diagnostic)	Diagnostic	B	Supports Positive	2	rejected	EID11171 All chordomas including 14 conventional chordomas and 7 poorly differentiated chordomas exhibited nuclear expression of brachyury (TBX2) by IHC whereas only 2 of 30 atypical teratoid/rhabdoid tumors w… (full text at CIViC) PMID 27067307 · Hasselblatt et al., 2016 · Open in CIViC	civic
TBXT Expression1
(diagnostic)	Diagnostic	B	Supports Positive	2	submitted	EID11172 All chordomas including 14 conventional chordomas and 7 poorly differentiated chordomas exhibited nuclear expression of brachyury (TBXT) by IHC whereas only 2 of 30 atypical teratoid/rhabdoid tumors w… (full text at CIViC) PMID 27067307 · Hasselblatt et al., 2016 · Open in CIViC	civic

Data updated 13 hours agoSource updated unknownsource: civic (CC0)

Evidence levels, directions and ratings are those assigned by CIViC curators. "Submitted" items have not completed curation review. This is not treatment guidance.