Leukemia Research Reports最新文献

Introduction

Pediatric Myelodysplastic Syndrome (MDS) presents complex challenges, often requiring Allogeneic Hematopoietic Stem Cell Transplantation (HSCT). This study explores the clinical profile and demographics of seven pediatric MDS patients post-HSCT, shedding light on causes, molecular abnormalities, and patient diversity.

Methods

Retrospective data from 2014 to 2023 were gathered from the Pediatric Hematology Oncology & Bone Marrow Transplantation Unit at the Cancer Institute in North India.

Results

Patient Demographics: Seven pediatric patients (4 males, 3 females), median age 12, underwent HSCT (Five matched related donor HSCT and two haploidentical). Underlying Causes of MDS: Varied etiological factors identified, including Fanconi anemia (n=2), Emberger syndrome (n=1), therapy-related (n=1), GATA-2 insufficiency (n=1), and de novo cases in 2 patients, highlighting population heterogeneity. Molecular Abnormalities: Analysis revealed Monosomy-7 in two patients, NPM-1 in one, and GATA-2 mutation in two cases, providing crucial insights into the genetic landscape of MDS in this specific patient group. Post-transplant Outcome: Successful engraftment for all, with median neutrophil engraftment at 15.5 days and platelet engraftment at 13.5 days. GVHD and viral reactivation observed, yet 85.7% survived with complete donor chimerism. Unfortunately, one FA patient succumbed on day +72 due to E.coli sepsis with grade-IV GVHD. Mean follow-up is 33.5 months (2.7 years), ranging from 2.5 to 60 months.

Conclusions

HSCT emerges as an effective therapy for pediatric MDS patients, yielding promising results in this developing world context.

Objective

To investigate the short-term efficacy and safety of different chemotherapy regimens combined with thalidomide, in the treatment of low-income patients with newly diagnosed HIV-associated diffuse large B-cell lymphoma.

Methods

A retrospective analysis was performed on 42 patients with HIV-DLBCL who were admitted to the Infectious Diseases Department of Yunnan Provincial Infectious Diseases Hospital from January 2018 to December 2020. 14 cases (including 1 case in stage II and 13 cases in stage III/IV) were treated with R-CHOP, 24 cases (including 1 case in stage II and 23 cases in stage III/IV) were treated with R-DAEPOCH, and 4 cases (including 1 case in stage II and 3 cases in stage III/IV) were treated with EPOCH. All patients were treated with thalidomide. The ART regimen was adjusted. At least 1 and up to 6 intrathecal injections were given during chemotherapy, and cotrimoxazole was taken orally to prevent infection. The clinical efficacy was evaluated after 4 cycles of chemotherapy, and adverse events were evaluated at each cycle of chemotherapy.

Results

All patients received 1–8 cycles of chemotherapy. CR (64.2 %) was achieved in 9 patients in R-CHOP group, and 5 patients died. In the R-DAEPOCH group, 17 patients achieved CR (70.8 %) and 7 died. In the EPOCH group, 2 patients reached CR (50 %) and 2 died. The main adverse reactions were grade II and above myelosuppression.

Conclusion

Combined treatment with thalidomide can improve the prognosis of low-income patients with newly diagnosed HIV-DLBCL.

T-cell acute lymphoblastic leukemia/lymphoma (T-ALL/LBL) is a rare and aggressive leukemia. Philadelphia chromosome-positive cytogenetic abnormality is most common in CML. It is difficult to differentiate between de novo Ph+ T-ALL/LBL and T-cell lymphoblastic crises of CML. We present a case of adult Ph+ T-ALL/LBL with a likely history of antecedent CML. Initially thought to be a case of chronic-phase CML, a diagnostic quandary led to the pursuit of a lymph node biopsy that established the diagnosis of Ph+ T-LBL or T lymphoblastic blast crisis of CML, a clinical presentation extremely rare and only the second of its kind from our review of the literature. The patient was treated with an intensive chemotherapy regimen for over a year due to persistent minimal residual disease (MRD) positivity indicating aggressive disease.

IGLL5 is shown to be located near super-enhancer (SE) in B-cell tumors, and this gene is frequently mutated and a target of translocation in B-cell tumors. These results suggest roles of the IGLL5 in tumorigenesis; however, its functional properties have been unclear. We found that two mature B-cell lymphoma cell lines expressed IGLL5 mRNA with Cλ1 segment. JQ1 treatment resulted in down-expression of IGLL5, indicating that IGLL5 is controlled by SE. IGLL5 knockdown induced cell death with down-expression of MYC. Our results suggested that IGLL5 might have a role in survival of mature B-cell tumors and involvement in MYC expression. (100 words)

Mixed-phenotype acute leukemia (MPAL) is a rare form of leukemia with ambiguous lineage, and there are challenges in accurately diagnosing this entity according to formal criteria. Here we report a case which was initially diagnosed as “AML” based on atypical peripheral blood flow cytometry that was subsequently determined to be B-ALL with KMT2A rearrangement based on marrow results. Although KMT2A rearrangements represent a defining genetic abnormality for acute leukemia of ambiguous lineage, this case did not meet the criteria for MPAL based on WHO 2022 criteria. This case highlights the diagnostic challenges of MPAL and the potential limitations of the current classification. We discuss the most appropriate workup and management of these patients and identify areas for future study.

Burkitt's lymphoma (BL) is an aggressive B-cell lymphoma that occurs in children and adults. It is a chemosensitive lymphoma with very exceptional cases of late relapse.

We report the case of a 32-year-old male, originally from a nonendemic area for BL, who was successfully treated for abdominal BL 20 years ago. He described a two-month history of cervical swelling and a one-week history of dyspnea. Physical examination was unremarkable except for a left submandibular mass that extended to the collarbone. An ultrasound of the neck revealed cervical lymphadenopathy. The patient was submitted to a lymph node biopsy with an immunohistochemical analysis, which concluded to the diagnosis of BL. Screening for recent Epstein-Barr-Virus (EBV) infection was negative. We considered this a very late relapse (VLR) of the original disease, and the patient was treated according to the same initial protocol. Unfortunately, he suffered a second relapse and died.

We report an unusual case of a VLR of nonendemic BL in an EBV-negative patient, occurring 20 years after achieving complete remission following the initial chemotherapy.

Patients who receive allogeneic hematopoietic stem cell transplantation (alloHSCT) are at risk for developing persistent thrombocytopenia. Here, we describe treatment with avatrombopag, a thrombopoietin receptor agonist, in a pediatric patient with chronic, severe, transfusion-dependent thrombocytopenia (<10 × 10³/µL) post-alloHSCT that was persistent despite treatment with romiplostim, another thrombopoietin receptor agonist. Following the granting of a compassionate use investigational new drug authorization, avatrombopag treatment was initiated, and the patient's platelet count increased. To date, the patient has maintained a platelet count >100 × 10³/µL. No adverse events or medication toxicities have been reported, and he has resumed his pre-alloHSCT activities.

Cuplike Nuclei(CLN) cells, particularly rare in Acute Lymphoblastic Leukemia(ALL), have been documented in only few cases to date. A recent study has revealed a correlation between CLN and IKZF1 deletions in pediatric B-ALL. This study introduces a case of CLN in adult B-ALL with a translocation (4;11)(q21;q23), while discussing the current relevant literature on the subject. Through this examination, several unique characteristics of CLN cells in both ALL and Acute Myeloid Leukemia are highlighted. It is essential to accumulate further data to confirm these distinctive traits, and investigate the potential association between CLN and cytogenetic/molecular abnormalities.

Introduction

Luspatercept is a recent breakthrough in the therapy of anemia in low-risk MDS.

Methods

From January 2021 to October 2023, 44 patients (median age 77, M/F 25/19, WHO 2016 classification: MDS-RS-MLD 28, MDS-MLD -4, RARS-T 8, CMML- 0 2, 5q- + RS 2, IPSS-R: very low 2, low 33, Intermediate 9, IPSS-M (35 pts): very low + low 18, moderate low 11, moderate high 2, high 2, very high 2) were treated with luspatercept. Median follow-up was 13 months (range 1-42). The median number of cycles was 15 (2-42). Transfusion dependency (TD) before luspatercept initiation ranged from 2 transfusion units (TU) to 12 TU/8 weeks. All patients were tested for SF3B1 mutation.

Results

We evaluated 42 patients. Twenty-four (57 %) patients reached TI (>12weekes), 6 (14 %) patients have had a reduction in transfusion need (HI, according to IWG criteria 2006). There were differences in response according to transfusion burden. Significant more responders belonged to lower IPSS-R, IPSS-M categories. In 17 patients, we added ESA (± prednisone), which led to the improvement of response in 12 cases with 9 TI. Four patients died (2-disease progression, 2 for comorbidity). There were no adverse effects of Grade II or more.

Conclusions

We did observed better responses in patients bearing single mutation in SF3B1, in lower IPSS-R and IPSS-M risk categories, patients with LTB and lower initial baseline EPO levels. The higher response rate in our follow-up may be influenced by the combination with ESA and rapid dose escalation.