Latest Research
All publications from the Cancer3.AI database, newest first.
Recto-anal high-grade squamous intraepithelial lesion with 5-year stability: curative endoscopic submucosal dissection.
Shao X, et al
Researchers report a rare case of high-grade squamous intraepithelial lesion (HSIL), a recognized precursor to anal squamous cell carcinoma, occurring in an HIV-negative patient whose lesion remained morphologically stable over a five-year period without intervention. The 33×25 mm lesion, spanning from the lower rectum to the anal canal, was successfully removed in a single piece using endoscopic submucosal dissection (ESD), achieving complete R0 resection with clear margins. Histopathological analysis confirmed HSIL (squamous cell carcinoma in situ) with diffuse p16 positivity, consistent with human papillomavirus (HPV) infection as the underlying cause. This case is notable because the natural history of HSIL in HIV-negative individuals is poorly understood, and published long-term data for this patient group remain scarce. The findings support ESD as a safe, curative, and organ-preserving treatment option for carefully selected early-stage cases where conventional en bloc endoscopic mucosal resection is unlikely to achieve complete removal.
Clinical journal of gastroenterology
Source →TP53 mutation analysis in myelodysplastic syndromes - long or short read sequencing?
Mittelman M, et al
A study published in Haematologica investigated whether long-read or short-read DNA sequencing is more effective for detecting TP53 mutations in patients with myelodysplastic syndromes (MDS), a group of bone marrow disorders carrying significant risk of transformation into acute leukemia. TP53 gene mutations are among the most clinically consequential genetic alterations in MDS, directly influencing prognosis and guiding treatment decisions including eligibility for allogeneic stem cell transplantation. The research evaluated the comparative abilities of established short-read next-generation sequencing platforms and emerging long-read sequencing technologies to identify the full spectrum of TP53 alterations, including complex structural variants and the critical determination of monoallelic versus biallelic mutation status. Accurately distinguishing whether TP53 mutations affect one or both gene copies is of paramount clinical importance, as biallelic TP53 inactivation carries a substantially worse prognosis and increasingly shapes therapeutic strategies in the era of novel agents. This head-to-head comparison offers diagnostic laboratories and clinicians evidence-based guidance on which sequencing approach provides superior sensitivity, phasing accuracy, and overall clinical utility for routine TP53 mutation profiling in MDS.
Haematologica
Source →Pregnancy in women with myelodysplastic syndromes: a scoping review of maternal, obstetric, and neonatal outcomes.
Mohamed SF, et al
A new scoping review published in Leukemia & Lymphoma examined pregnancy outcomes in women with myelodysplastic syndromes (MDS), a rare group of bone marrow disorders that impair normal blood cell production. Researchers systematically searched the literature and identified 21 publications encompassing 69 pregnancies, allowing them to compare outcomes based on whether MDS was diagnosed before or during pregnancy. The majority of pregnancies resulted in live births, with rates exceeding 93% in both groups, and neonatal complications were uncommon, offering cautious reassurance to patients and clinicians. However, leukemic transformation — the dangerous progression of MDS into acute leukemia — occurred exclusively in women whose MDS was first detected during pregnancy, highlighting that this timing carries significantly higher maternal risk. The findings suggest that with careful disease monitoring and multidisciplinary care, selected women with stable MDS can successfully carry a pregnancy to term, particularly when disease control is established prior to conception. Clinicians are urged to prioritize early recognition of MDS in pregnant patients and to coordinate care across hematology, obstetrics, and neonatology to optimize outcomes for both mother and child.
Leukemia & lymphoma
Source →VEXAS syndrome.
Beck DB, et al
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a recently discovered inflammatory disorder caused by somatic mutations in the UBA1 gene, acquired in haematopoietic stem cells, which disrupt the ubiquitin-dependent protein quality control system, triggering widespread cellular and systemic inflammation. First identified in 2020, VEXAS syndrome bridges haematology, immunology, and genetics, predominantly affecting older men with severe glucocorticoid-dependent inflammation, neutrophilic skin conditions, cartilage inflammation, and blood cell deficiencies associated with clonal haematopoiesis. The prognosis for many patients is poor, as current treatments remain largely empirical: glucocorticoids and cytokine-blocking agents provide only temporary control of inflammation, while hypomethylating agents aim to eliminate the mutant blood stem cell clone. Allogeneic stem cell transplantation currently represents the only potential cure, underscoring the critical need for the development of targeted therapies. This comprehensive primer establishes VEXAS syndrome as a new disease paradigm that directly links somatic genetic mutations with systemic autoinflammation, fundamentally reshaping clinicians' understanding of adult-onset inflammatory diseases and prompting urgent reassessment of patients with previously unexplained inflammatory conditions.
Nature reviews. Disease primers
Source →A rare chain of events: Post-follicular therapy-related t(8;21) acute myeloid leukaemia with KIT D816Y mutation revealing systemic mastocytosis.
Assadi-Gazvini C, et al
This case report describes an exceptionally rare clinical sequence in which a patient previously treated for follicular lymphoma went on to develop therapy-related acute myeloid leukemia (AML) harboring the t(8;21) chromosomal translocation, a well-recognized genetic rearrangement that defines a specific subtype of blood cancer. Remarkably, the leukemia cells also carried the KIT D816Y mutation, a variant strongly associated with systemic mastocytosis—a separate disorder characterized by the pathological accumulation of mast cells in bone marrow and other organs. The presence of this mutation prompted further diagnostic workup that uncovered a previously unrecognized underlying systemic mastocytosis, illustrating how one malignancy can effectively unmask another. This report documents a rare convergence of three distinct pathological entities: prior follicular lymphoma, therapy-related AML, and systemic mastocytosis, all linked through a single mutational event. For hematologists and oncologists, this case reinforces the critical importance of thorough molecular and genetic profiling in therapy-related AML, since co-existing conditions such as systemic mastocytosis can have profound implications for treatment selection and prognosis.
British journal of haematology
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