PML — gene · CancerIndex

Curated evidence

Clinical evidence (7)

CIViC items involving this gene, grouped by molecular profile and therapy, with native levels and directions. 50 items per page.

civicCuratedShowing 1–7 of 7 evidence items · levels, directions and significance as curated at the source; each row links to its CIViC record.

Therapy	Cancer	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
PML B2 DOMAIN MUTATION1
Tretinoin	Acute Promyelocytic Leukemia	Predictive	B	Supports Resistance	4	accepted	EID1092 Mutations in the B2 domain of PML in the PML-RARa fusion have been shown to be associated with resistance to standard ATRA treatment in patients with acute promyelocytic leukemia. PMID 23670176 · Tomita et al., 2013 · Open in CIViC	civic
PML K227_T233del1
Tamibarotene + TretinoinSubstitutes	Acute Promyelocytic Leukemia	Predictive	C	Supports Resistance	3	submitted	EID8175 A novel seven amino acid deletion (p.K227_T233del) in the RARA region was detected in a refractory APL patient. The PML-RARA mutant was transduced into HL-60 cells and these in-vitro PML-RARA expressi…

Cohorts

Alteration frequency by cohort (3)

Frequency = cases affected / cases profiled within one cohort. Cohorts are never pooled.

cbioportalObserved3 cohort rows · frequency = affected / profiled, as published by each cohort; cohorts are not pooled. Hover a row badge for its release.

Cohort	Mapped cancer	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Rank in cohort	Source
Pediatric Pan-cancer (Columbia U, Genome Med 2016) mixed_pipseq_2017	unmapped	Ssm	11	103	10.7%

Literature

Linked publications (3)

25 per page, newest first.

pubmedPublishedShowing 1–3 of 3 publications · bibliographic data as recorded by PubMed; abstracts are not reproduced.

Mechanisms of action and resistance to all-trans retinoic acid (ATRA) and arsenic trioxide (As2O 3) in acute promyelocytic leukemia.
· Int J Hematol · 2013 · PMID 23670176 · validated civic_curation pubmed
Varying responses of PML-RARA with different genetic mutations to arsenic trioxide.
· Blood · 2016 · PMID 26537301 · validated civic_curation pubmed
Missense mutations in PML-RARA are critical for the lack of responsiveness to arsenic trioxide treatment.
· Blood · 2011 · PMID 21613260 · validated civic_curation pubmed

PML A216V + RARA FusionRARA PML2
Arsenic Trioxide	Acute Promyelocytic Leukemia	Predictive	B	Supports Resistance	4	accepted	EID8177 Five point mutations were identified in the PML B2 domain of PML-RARA transcripts in 9 patients diagnosed with APL and resistant to arsenic. DNA from these 9 patients was cloned into flag-tagged pCag … (full text at CIViC) PMID 26537301 · Liu et al., 2016 · Open in CIViC	civic
Tretinoin	Acute Promyelocytic Leukemia	Predictive	C	Supports Resistance	4	accepted	EID1093 The mutation A216V in the B2 domain of PML in the PML-RARa fusion was seen in a patient with ATRA-resistant acute promyelocytic leukemia. PMID 21613260 · Goto et al., 2011 · Open in CIViC	civic