IDH2 R172

IDH2 and TP53 mutations are enriched in dedifferentiated CS and are significant, independent predictors of adverse survival, regardless of tumor grade. These findings support IDH2 mutation status as clinically meaningful prognostic biomarker that may allow risk stratification and clinical decision-making in CS patients.

P2, N=14, Active, not recruiting, National Cancer Institute (NCI) | Trial completion date: Feb 2026 --> Mar 2027

AML harbouring KMT2A-PTD frequently displays MR immunophenotypic abnormalities and is frequently associated with AML-MR type mutations. In addition, they have similar outcomes as compared with AML-MR.

He received adjuvant concurrent radiation and temozolomide...We present a case of IDH-mutant astrocytoma with a somewhat atypical molecular presentation, including a previously uncharacterized IDH2 mutation, retained ATRX expression, and lack of MGMT promoter hypermethylation. Though it has not been biochemically or functionally validated, tumor methylation profiling is supportive of this previously uncharacterized IDH2 variant as tumorigenic.

P2, N=15, Recruiting, Washington University School of Medicine | Trial completion date: Jun 2027 --> Feb 2029 | Trial primary completion date: May 2027 --> Jan 2028

Based on these data, the Idylla IDH1-2 mutation assay represents a fast and reliable alternative to detect IDH hotspot variants in solid tumors and hematological malignancies using either fixed tissue sections or DNA extracts. Particular attention, however, is needed for the interpretation of cases with cycle of quantification values of the internal controls over 35, for which a variant with low allelic frequency could be missed due to low DNA quantity or quality.

P1, N=4, Completed, Memorial Sloan Kettering Cancer Center | Active, not recruiting --> Completed | Trial completion date: Oct 2026 --> Jan 2026 | Trial primary completion date: Oct 2026 --> Jan 2026

P3, N=57, Active, not recruiting, Servier | Recruiting --> Active, not recruiting | Trial completion date: Jun 2031 --> Oct 2030 | Trial primary completion date: Jun 2026 --> Oct 2025

This study expands the genetic and morphologic repertoire of TCCRP with implications and pitfalls for accurate diagnosis. The findings highlight the IDH1/IDH2 dichotomy with convergence of phenotype in these rare breast tumours.

Among the molecular analytic modalities included in this study, the combination of HBZ-ISH and HTLV-1-qPCR represented the results obtained from the other more expensive modalities, indicating that this combination is effective in daily practice. When T-cell neoplasms arise in HTLV-1 carriers and exhibit atypical clinical, phenotypical, or genetic features for ATLL, it is recommended to perform HBZ-ISH and HTLV-1-qPCR to distinguish non-ATLL TCLs.

This case underscores the importance of integrating histomorphological features, immunohistochemical profiles, and molecular biomarkers to distinguish TCCRP from other triple-negative breast carcinomas. Recognition of this indolent entity is critical for avoiding overtreatment and ensuring appropriate clinical management, given its favorable prognosis compared to conventional triple-negative breast cancers.