DOI: 10.20452/pamw.16344, Published online: September 27, 2022, Authors: Monika Adamska, Ewelina Kowal-Wiśniewska, Anna Przybyłowicz-Chalecka, Marta Barańska, Anna Łojko-Dankowska, Monika Joks, Zuzanna Kanduła, Małgorzata Jarmuż-Szymczak, Lidia Gil

Background: Acute myeloid leukemia post cytotoxic therapy (AML-pCT) among breast cancer (BC) survivors represents a life-threatening complication. This study aims to assess the clinical outcomes of AML-pCT post BC. Methods: An analysis of all AML patients treated at a single hematology center (2000–2023) was performed to select patients with AML-pCT post BC. We applied the 2022 ELN criteria to define the genetic risk. Results: Among 847 AML patients, 28 were diagnosed with AML-pCT following BC. Complex karyotype (CK) occurred in 23.8% of patients. The median overall survival (OS) was 40 months. The survival outcomes were better after allogenic hematopoietic stem cell transplantation (alloHCT) treatment compared to chemotherapy alone (median OS: 47 versus 7 months, p = 0.008). Patients demonstrating CK showed lower survival compared to those without CK (2-year OS: 25.0% versus 66.2%, p = 0.0048). The multivariable Cox proportional hazards regression model indicated that treatment with alloHCT emerged as a significant factor associated with improved OS. The treatment was associated with superior OS (HR = 0.07, 95% CI = 0.01–0.86, p = 0.04). Conclusions: Patients with AML-pCT following BC were characterized with the highest frequency of adverse genetic risk profiles and demonstrated worse survival rates. AlloHCT should be performed as early as possible in such patients. The growing need for studies on inherited cancer susceptibility underscores the importance of close AML-pCT development monitoring in BC survivors.

Post-transplant lymphoproliferative disorder (PTLD) is a rare, but severe Epstein-Barr virus (EPV)-driven disorder that manifest after hematopoietic stem cell transplantation (HSCT) or solid organ transplantation (SOT). This heterogenous disease may manifest as localized or disseminated, and clinical presentation may differ significantly. It may be difficult to early diagnose PTLD, as is may be misdiagnosed as infection or graft rejection. The majority of EBV-PTLD typically occurs within four months following HSCT, and almost all cases present within the first year. EBV-PTLD that manifests > 5 years is considered an exceedingly rare occurrence. We describe a case of 66-year-old male, who was diagnosed with high-risk chronic lymphocytic leukemia (CLL). He underwent allogeneic HSCT from HLA-identical sister, and subsequently developed acute followed by chronic graft-versus-host disease, for which he was long-term treated with immunosuppressants. At 6 years following HSCT, the patient presented with life-threatening perforation of gut. Histological evaluation revealed diffuse large B cell lymphoma. Serum sample test showed positive EBV DNA and diagnosis of probable EBV-PTLD was done. After the treatment with rituximab, along with the reduction of immunosuppression, the patient achieved complete remission. Late onset EBV-PTLD after HSCT is extremely uncommon, and hardly described in literature.

Myelodysplastic syndromes (MDS) are a heterogeneous group of myeloid neoplasms characterized by the presence of cytopenias, ineffective hematopoiesis and frequent transformation into secondary acute myeloid leukemia (secAML). Recent genomic studies provide unprecedented insight into the molecular landscape of clonal proliferation in MDS. Genetic diversity of both MDS and secAML subclones cannot be defined by a single somatic mutation. Mutations of the founding clone may survive over implemented chemotherapy and allogenic hematopoietic cell transplantation (alloHCT), but new subclonal mutations may also appear. Next generation sequencing (NGS) makes it possible to define the mutational profile of disease subclones during the treatment course and has a potential in pre- and post-alloHCT monitoring. Understanding the molecular pathophysiology of MDS may soon allow for monitoring the course of disease and personalized treatment depending on the mutational landscape. In the present paper we report, for the first time in MDS, ASXL1 c.1945G>T, TET2 c.4044+2dupT and c.4076G>T sequence variants. Moreover, we detected RUNX1 c.509-2A>C and SF3B1 c.1874G>T sequence variants. Furthermore, we verify the clinical utility of NGS and pyrosequencing in MDS and secAML.

Introduction: Lower-risk myelodysplastic neoplasms (LR-MDS) comprise the majority of MDS. Despite favourable prognoses, some patients remain at risk of rapid progression. We aimed to define the mutational profile of LR-MDS using next-generation sequencing (NGS), Sanger Sequencing (SSeq), and...

Background: Breast cancer (BC) represents the most frequent female malignancy worldwide, and one of the rare, however life-threatening, complications after oncological treatment is acute myeloid leukemia post cytotoxic therapy (AML-pCT). Moreover, most AML-pCT cases have contributed to previous BC cytotoxic therapies. The treatment approach for AML-pCT in BC survivors with an active second BC represents the challenging decision-making process that is described in this report. Results: A 48-year-old woman was diagnosed with invasive lobular carcinoma of the right breast (T2N0M0, BRCA1 negative) and successfully treated with breast-conserving therapy, adjuvant radiotherapy, and hormone therapy. Seven years later, she was diagnosed with ductal carcinoma in situ in the left breast, and unexpectedly, directly before the surgery, with leukocytosis, anemia, and thrombocytopenia. Hematological investigation revealed a diagnosis of AML-pCT (intermediate ELN2022 risk group). After a management conference involving both oncologists and haematologists, conserving surgery of the left breast (pTis, pNX) was performed. Seven days later the patient started intensive antileukemic treatment with “ 3+7” induction chemotherapy, followed by two consolidation chemotherapies, which resulted in complete remission (CR) of leukemia with negative measurable residual disease. Despite a high hematopoietic cell transplantation comorbidity index score (due to a previous neoplasm), the patient qualified for allogeneic hematopoietic cell transplantation (alloHCT). The procedure was performed using myeloablative conditioning with a matched unrelated donor. Currently, 3 years post-alloHCT, the patient remains in CR for all three neoplasms. Conclusion: In this case report, we describe the therapeutic success of intensive alloHCT in AML-pCT patient with active BC. The presented treatment approach for active BC and AML-pCT requires collaboration between oncologists and hematologists to ensure fast decision-making.