IDH2 R172

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.

The patient continues to be followed up for prognostic evaluation, and no recurrence or metastasis occurred until now. The case has represented a full view to gaining an improved understanding of TCCRP.

Comparison of IDH and NPM1 trends during follow-up revealed a statistically significant positive correlation, both in raw (β = 0.079, p = 0.001) and ranked data (β = 0.99, p = 0.004), suggesting a co-dynamic pattern potentially useful for surrogate monitoring. While our study cannot yet define the clinical role of IDH mutation assessment by ddPCR due to the lack of comparative follow-up studies, it establishes a solid methodological foundation for standardizing minimal residual disease evaluation via ddPCR, paving the way for future prospective validation.

P1, N=4, Active, not recruiting, Memorial Sloan Kettering Cancer Center | Trial completion date: Oct 2025 --> Oct 2026 | Trial primary completion date: Oct 2025 --> Oct 2026

Both patients underwent breast conservation surgery, radiation therapy and adjuvant endocrine therapy with anastrozole and show no evidence of disease at 65 and 25 months, respectively. This study suggests that tall cell carcinoma with reversed polarity may give rise to frank invasive carcinoma, the prognostic significance of which is yet unknown.

Our method achieved a turnaround time of 105 min at the point-of-care from receipt of a tumor biopsy to result with the potential to impact surgical strategy. Our approach can be integrated with recently developed DNA methylation-based diagnostic classification systems, corroborating diagnoses and even further specifying tumor grades, thus enabling a multimodal diagnostic intraoperative assessment of CNS malignancies.