Chr t(15;17)

Due to resource constraints, all-trans retinoic acid-based therapy was unavailable, and induction chemotherapy was administered, with a fatal outcome after one week. This case highlights gingival hypertrophy as an atypical early presentation and the impact of delayed diagnosis and limited access to essential therapy.

Furthermore, marked myelofibrosis was identified in our patient - an unusual finding for APL. By sharing this observation, we emphasize the importance of a comprehensive approach in achieving an accurate and timely diagnosis of APL, including the integration of morphologic assessment, immunohistochemistry, flow cytometry, and molecular techniques.

To our knowledge, this is the first report of a reciprocal translocation in mosaic NF1, highlighting the role of structural genomic rearrangements in this disorder and underscoring the diagnostic utility of optical genome mapping in suspected cases. Molecular confirmation of mosaic NF1 is critical for accurate diagnosis, clinical management, and genetic counselling.

APL may exhibit immunophenotypic aberrancies mimicking MPAL. Molecular confirmation of PML::RARA and an integrated diagnostic approach are essential to avoid misclassification and ensure timely therapy.

P2/3, N=12, Not yet recruiting, Quetzal Therapeutics LLC

P=N/A, N=110, Beijing Chao-Yang Hospital, Capital Medical University; Beijing Chao-Yang Hospital, Capital Medical University

P1, N=30, Active, not recruiting, Fred Hutchinson Cancer Center | Recruiting --> Active, not recruiting | Trial completion date: Dec 2029 --> May 2029 | Trial primary completion date: Dec 2026 --> May 2026

P3, N=150, Recruiting, Quetzal Therapeutics

When interpreted together with the in silico analyses performed on AML patient datasets, these results support the rationale for future validation in APL-oriented models carrying the PML::RARα fusion, the disease-defining oncogenic driver generated by the t(15;17) translocation that blocks myeloid differentiation. However, the in silico and in vitro datasets were not formally integrated at the patient level, and these functional results should be considered exploratory.

P2, N=60, Active, not recruiting, National Cancer Institute (NCI) | Trial completion date: Jan 2026 --> Jan 2027

He underwent haploidentical transplantation using post-transplant cyclophosphamide (PTCy) after conventional chemotherapy and maintained long-term remission. This case highlights the importance of a morphological diagnosis and allogeneic hematopoietic stem cell transplantation (allo-HSCT) in APL with t(11;17)(q23.2;q21.2).

P1, N=30, Recruiting, Fred Hutchinson Cancer Center | Trial completion date: Dec 2027 --> Dec 2029