Hematóloga- Dra María Fernanda Luján

02/06/2025

Absolute iron deficiency affects approximately 2 billion people worldwide.

This narrative review examines the screening, diagnosis, and treatment of adults with absolute iron deficiency without anemia and iron-deficiency anemia.

https://ja.ma/4ksYLGQ

30/05/2025

Primary myelofibrosis involving lymph nodes with the same mutational profile in bone marrow

A 56-year-old woman with primary myelofibrosis (PMF) with TET2 (variant allele frequency [VAF] 61%), MPL (VAF 37%), and SRSF2 (VAF 38%) mutations in bone marrow (BM) underwent axillary lymph node (LN) excision for lymphadenopathy to exclude metastasis. The LNs showed distorted architecture with the medulla and paracortical areas replaced by atypical trilineage hematopoietic cells in a fibrovascular background, compressing the lymph node cortex (panel A, 1× lens objective; panel B, 5× lens objective; hematoxylin and eosin [H&E] stain for both panels). The scattered and clustered atypical megakaryocytes with hyperchromatic and bizarre nuclei (panel C, 20× lens objective; panel D, 40× lens objective; H&E stain for both panels) were highlighted by CD61 (panel E, 40× lens objective), in the background of fibrosis shown by reticulin (panel H, 10× lens objective), resembling the findings in BM (panel I, 2× lens objective; panel J, 10× lens objective; panel K, 40× lens objective; panel L, reticulin, 10× lens objective; panel M, trichrome, 10× lens objective; H&E stain for panels I-K). LNs also showed clusters of CD71+ erythroid precursors (panel F, 40× lens objective) and scattered myeloperoxidase-positive myeloid cells (panel G, 40× lens objective). There were no increased CD34+ blasts. CD31 highlighted increased vascularity. Next-generation sequencing on the LN revealed a similar mutational profile as in BM including TET2 (VAF 21%), MPL (VAF 18%), and SRSF2 (VAF 16%).
This case is an example demonstrating that the so-called extramedullary hematopoiesis in PMF represents the same neoplastic process as in the BM that extends to involve extramedullary organs and tissue, most likely via metastasis and implant of the clonal neoplastic hematopoietic stem or progenitor cells.
https://ashpublications.org/blood/article/145/22/2672/537334/Primary-myelofibrosis-involving-lymph-nodes-with

08/05/2025

After a median follow-up of 99 months, salvage high-dose chemotherapy and autologous stem cell transplantation (sHDCT/ASCT) showed no survival benefit compared with continuous lenalidomide/dexamethasone in relapsed multiple myeloma. The absence of benefit was consistent across all subgroups, including patients with time to progression after frontline transplant beyond 48 months. http://ms.spr.ly/6186SVl2Y

04/05/2025

Statin use in patients with chronic lymphocytic leukemia (CLL) and small lymphocytic lymphoma (SLL) was associated with significant survival benefits, with a 45% lower risk for overall mortality and 27% reduced risk for disease progression. Benefits remained consistent across treatment types, with no increase in severe adverse effects. http://ms.spr.ly/6183SrlV3

08/04/2025

A new review series on myeloproliferative neoplasms (MPN): prevention, diagnosis and management. A selection of a few key topics of particular interest to the field which have been informed by recent advances in basic or clinical research:
- strategies to prevent or treat the devastating clinical consequence of acute myeloid leukemia arising from antecedent MPN, also known as blast-phase MPN;
- the evolution of MPN from normal blood stem cells;
- clinical and laboratory approaches to target and eradicate early disease-initiating stem cells;
- the pathogenesis and management of patients with molecularly defined high-risk MPN.
https://haematologica.org/article/view/haematol.2024.285414

06/04/2025

Chromoplexy and FNDC3B::RARB fusion: deciphering a rare case of PML::RARA-negative APL

A 30-year-old man was admitted to the hospital with a 1-week history of asthenia and febrile angina. Blood tests revealed pancytopenia and 25% immature myeloid cells, but no blast cells. Coagulation tests were normal. Bone marrow aspiration with 93% blasts and numerous clustered Auer rods was highly suggestive of acute promyelocytic leukemia (APL) (panel A: May-Grünwald Giemsa staining, original magnification ×100). Flow cytometry revealed high side scatter with cMPO+, CD33+, CD117+, CD34− (consistent with promyelocytes), but atypical HLA-DR+. PML::RARA fast fluorescence in situ hybridization (FISH) was negative. Cytogenetics revealed loss of chromosome Y and a complex rearrangement involving chromosomes 3 and 7, with a pericentric inversion on chromosome 3 affecting 3p24, which carries the RARB gene (panel B). Due to the lack of RARB-specific FISH probes, further investigation was conducted using optical genome mapping, which identified a chromoplexy involving a 9-partner translocation, resulting in an FNDC3B::RARB fusion (panel C), confirmed by reverse transcription polymerase chain reaction (panel D).
As the patient did not develop a differentiation syndrome with all-trans retinoic acid alone, an induction chemotherapy was added. He achieved complete remission with minimal residual disease below 0.1% by flow cytometry after 2 cycles. However, all-trans retinoic acid’s specific contribution to this outcome remains uncertain. The patient is awaiting allogeneic transplantation. RAR rearrangements beyond RARA occur in ∼2% of APL cases. RARA-negative APLs are typically retinoid-resistant, and their optimal treatment remains undefined. Advanced genetic techniques, such as optical genome mapping or transcriptomics, are crucial to avoid overlooking these variants.
https://ashpublications.org/blood/article/145/14/1588/536396/Chromoplexy-and-FNDC3B-RARB-fusion-deciphering-a

03/04/2025

31/03/2025

Frequent Blood Donation Does Not Increase Clonal Hematopoiesis

Each whole blood donation stimulates erythropoiesis by 2.5% to 4% to replace lost cells. Since male blood donors can donate up to six times per year, increased levels of erythropoietin may represent a novel selection pressure on hematopoietic stem cells (HSCs). To determine if frequent, repeated whole blood donations favor certain mutations in HSCs or increase clonal hematopoiesis, researchers analyzed two age- and health-matched cohorts of males over 60 years of age. One cohort included 217 males with over 100 whole blood donations, while the other included 212 males with less than ten donations. No significant difference in the overall incidence of clonal hematopoiesis was found between the two cohorts. The most prevalent mutations were observed in the DNMT3A and TET2 genes, which are commonly affected in clonal hematopoiesis. Distinct patterns of genetic mutations, however, were observed in both cohorts. Based on CRISPR/Cas9 mutated human HSCs in cultures, mutations observed in frequent donors expand when exposed to erythropoietin but not inflammatory stimuli (unlike pre-leukemia mutations which expand when exposed to inflammatory stimuli). Further research is needed to assess the effects of frequent blood donation on HSCs.
https://transfusionnews.com/2025/03/19/frequent-blood-donation-does-not-increase-clonal-hematopoiesis/

29/03/2025

What principles govern immune tolerance after allogeneic hematopoietic cell transplantation? Read the case of a woman with severe acute cutaneous graft-versus-host disease after late relapse of chronic myeloid leukemia and ultraviolet B-light phototherapy for suspected lichen planus.
https://haematologica.org/article/view/haematol.2024.286369

29/03/2025

🚨 New Research Alert! 🚨

A new machine learning tool is helping patients with and their doctors make more informed decisions!

Dr. Juan Carlos Hernández-Boluda, Dr. Donal McLornan, and Dr. Adrián Mosquera Orgueira break down how this advanced model, developed by The EBMT outperforms traditional methods in assessing transplant risk—providing clearer insights for treatment planning.

25% of patients with myelofibrosis have a 40% risk of mortality within a year post-transplant. This tool helps identify high-risk cases with greater accuracy.

Read more in the press release: https://ow.ly/AGsu50VpZn7