NG2 is a target gene of MLL-AF4 and underlies glucocorticoid resistance in MLL-r B-ALL by regulating NR3C1 expression.

B-cell acute lymphoblastic leukemia (B-ALL) is the most common pediatric cancer, with long-term overall survival rates of ~85%. However, B-ALL harboring rearrangements of the MLL gene (also known as KMT2A), referred to as MLLr B-ALL, is common in infants and is associated with poor 5-year survival (<30%), frequent relapses, and refractoriness to glucocorticoids (GCs). GCs are an essential part of the treatment backbone for B-ALL and GC resistance is a major clinical predictor of poor outcome. Elucidating the mechanisms of GC resistance in MLLr B-ALL is, therefore, critical to guide therapeutic strategies that deepen the response after induction therapy. Neuron-glial antigen-2 (NG2) expression is a hallmark of MLLr B-ALL and is minimally expressed in healthy hematopoietic cells. We recently reported that NG2 expression is associated with poor prognosis and that anti-NG2 immunotherapy strongly reduces/delays relapse in MLLr B-ALL xenograft models. Despite its contribution to MLLr B-ALL pathogenesis and its diagnostic utility, the role of NG2 in MLLr-mediated leukemogenesis/chemoresistance remains elusive. Here we show that NG2 is an epigenetically regulated direct target gene of the leukemic MLL-AF4 fusion protein. NG2 negatively regulates the expression of the GC receptor NR3C1 and confers GC resistance to MLLr B-ALL cells in vitro and in vivo. Mechanistically, NG2 interacts with FLT3 to render ligand-independent activation of FLT3 signaling (a hallmark of MLLr B-ALL) and downregulation of NR3C1 via AP-1-mediated trans-repression. Collectively, our study elucidates the role of NG2 in GC resistance in MLLr B-ALL through FLT3/AP-1-mediated downregulation of NR3C1, providing novel therapeutic avenues for MLLr B-ALL.

RAF1 gene fusions are recurrent driver events in infantile fibrosarcoma-like mesenchymal tumors.

Infantile fibrosarcomas (IFS) and congenital mesoblastic nephroma (CMN) are rare myofibroblastic tumors of infancy and early childhood commonly harboring the ETV6::NTRK3 gene fusion. IFS/CMN are considered as tumors with an 'intermediate prognosis' as they are locally aggressive, but rarely metastasize, and generally have a favorable outcome. A fraction of IFS/CMN-related neoplasms are negative for the ETV6::NTRK3 gene rearrangement and are characterized by other chimeric proteins promoting MAPK signaling upregulation. In a large proportion of these tumors, which are classified as IFS-like mesenchymal neoplasms, the contributing molecular events remain to be identified. Here, we report three distinct rearrangements involving RAF1 among eight ETV6::NTRK3 gene fusion-negative tumors with an original histological diagnosis of IFS/CMN. The three fusion proteins retain the entire catalytic domain of the kinase. Two chimeric products, GOLGA4::RAF1 and LRRFIP2::RAF1, had previously been reported as driver events in different cancers, whereas the third, CLIP1::RAF1, represents a novel fusion protein. We demonstrate that CLIP1::RAF1 acts as a bona fide oncoprotein promoting cell proliferation and migration through constitutive upregulation of MAPK signaling. We show that the CLIP1::RAF1 hyperactive behavior does not require RAS activation and is mediated by constitutive 14-3-3 protein-independent dimerization of the chimeric protein. As previously reported for the ETV6::NTRK3 fusion protein, CLIP1::RAF1 similarly upregulates PI3K-AKT signaling. Our findings document that RAF1 gene rearrangements represent a recurrent event in ETV6::NTRK3-negative IFS/CMN and provide a rationale for the use of inhibitors directed to suppress MAPK and PI3K-AKT signaling in these cancers. © 2024 The Pathological Society of Great Britain and Ireland.

Genital Herpes Zoster: A Rare Location That Can Mimic Genital Herpes.

ABSTRACT: Herpes zoster is an acute, cutaneous viral infection caused by the reactivation of varicella-zoster virus. Genital dermatomes are involved in only up to 2% of cases and are probably underrecognized. We present a series of 7 genital herpes zoster cases diagnosed in our Unit of Sexually Transmitted Diseases. None of our patients were positive for HIV test, and only one was taking immunosuppressive medication. We recommend the use of molecular testings to confirm the diagnosis of varicella-zoster virus or herpes simplex virus infection in all cases of genital herpes-like lesions.

Contact Allergy in Patients with Rosacea. / Sensibilización alérgica de contacto en pacientes con rosácea.

BACKGROUND AND OBJECTIVE: Rosacea is a chronic acneiform skin disorder in which impaired skin barrier function can lead to sensitization to allergens. We aimed to analyze contact allergies in our patients with rosacea. MATERIAL AND METHODS: Retrospective cohort study of all patients who underwent patch testing in our skin allergy clinic between May 1991 and May 2019. RESULTS: A total of 200 patients with rosacea were referred to our clinic for patch testing during the study period; they represented 2.1% of all patch tested patients in the period. Eighty-one percent were women (mean age, 44.7years). At least 1positive patch test was recorded for 46.5%; 15% were of current relevance. The most frequent positive reaction was to nickel (26%), followed by cobalt chloride (6.5%), isothiazolinones (6%), p-phenylenediamine (5.5%), fragrance mixII (5%), and thimerosal (3.5%). The most common currently relevant patch test reactions were to isothiazolinones in 10 of the 200 patients (5%); to phenylenediamine, fragrance mixII, and toluensulfonamide formaldehyde resin in 4 patients (2%) each; and to tixocortol and fragrance mixI in 2 patients (1%) each. The allergen groups most often implicated were metals (of current relevance in 12.6%) and drugs (of current relevance in 25.8%). Preservatives and fragrances were the next most common allergen groups, and 70.8% and 43.7% of the positive reactions in these groups, respectively, were of current relevance. Cosmetics were the most frequent source of sensitization, followed by topical medications - notably corticosteroids and antifungal agents. CONCLUSIONS: We emphasize the high prevalence of allergic contact dermatitis in patients with rosacea, a finding which supports patch testing, especially if eruptions worsen when these patients use cosmetics and topical medications.

Recurrent RET gene fusions in paediatric spindle mesenchymal neoplasms.

AIMS: The classification of paediatric spindle mesenchymal tumours is evolving, and the spectrum of so-called 'infantile fibrosarcoma' has expanded to include tumours with NTRK, BRAF and MET gene fusions. RET-rearranged paediatric spindle cell neoplasms are an emerging group; there is sparse literature on their clinical, pathological and genetic features, and their nosological place in the canon of soft tissue tumours is uncertain. In this study, we report five RET-rearranged paediatric spindle cell tumours with fusion partners MYH10, KIAA1217 and CLIP2. METHODS AND RESULTS: The tumours occurred in the pelvic region, paraspinal region, kidney and subcutaneous tissue of hand and abdomen. The patients' ages ranged from 6 months to 13 years (median 1 year). The tumours were composed of monomorphic spindle cells arranged in a fascicular pattern. Lesional cells had minimally atypical ovoid or tapered nuclei and pale cytoplasm with indistinct borders. Necrosis was not identified. Mitoses numbered three to 12 per 10 high-power field. Cases showed inconsistent and variable expression of S100, CD34 and SMA. Clinical behaviour ranged from small lesions potentially cured by simple resection to large lesions exhibiting metastasis, but responsive to kinase inhibitor therapy. CONCLUSIONS: Our findings help to define RET-rearranged spindle cell tumours. Although it is likely that these tumours comprise part of the morphological and clinical spectrum of infantile fibrosarcoma (IFS), identification of RET gene alteration is important for its unique therapeutic implications.

Hexb enzyme deficiency leads to lysosomal abnormalities in radial glia and microglia in zebrafish brain development.

Sphingolipidoses are severe, mostly infantile lysosomal storage disorders (LSDs) caused by defective glycosphingolipid degradation. Two of these sphingolipidoses, Tay Sachs and Sandhoff diseases, are caused by ß-Hexosaminidase (HEXB) enzyme deficiency, resulting in ganglioside (GM2) accumulation and neuronal loss. The precise sequence of cellular events preceding, and leading to, neuropathology remains unclear, but likely involves inflammation and lysosomal accumulation of GM2 in multiple cell types. We aimed to determine the consequences of Hexb activity loss for different brain cell types using zebrafish. Hexb deficient zebrafish (hexb-/- ) showed lysosomal abnormalities already early in development both in radial glia, which are the neuronal and glial progenitors, and in microglia. Additionally, at 5 days postfertilization, hexb-/- zebrafish showed reduced locomotor activity. Although specific oligosaccharides accumulate in the adult brain, hexb-/- ) zebrafish are viable and apparently resistant to Hexb deficiency. In all, we identified cellular consequences of loss of Hexb enzyme activity during embryonic brain development, showing early effects on glia, which possibly underlie the behavioral aberrations. Hereby, we identified clues into the contribution of non-neuronal lysosomal abnormalities in LSDs affecting the brain and provide a tool to further study what underlies the relative resistance to Hexb deficiency in vivo.

Tuning transition metal carbide activity by surface metal alloying: a case study on CO2 capture and activation.

CO2 is one of the main actors in the greenhouse effect and its removal from the atmosphere is becoming an urgent need. Thus, CO2 capture and storage (CCS) and CO2 capture and usage (CCU) are intensively investigated technologies to decrease the concentration of atmospheric CO2. Both CCS and CCU require appropriate materials to adsorb/release and adsorb/activate CO2, respectively. Recently, it has been theoretically and experimentally shown that transition metal carbides (TMC) are able to capture, store, and activate CO2. To further improve the adsorption capacity of these materials, a deep understanding of the atomic level processes involved is essential. In the present work, we theoretically investigate the possible effects of surface metal doping of these TMCs by taking TiC as a textbook case and Cr, Hf, Mo, Nb, Ta, V, W, and Zr as dopants. Using periodic slab models with large supercells and state-of-the-art density functional theory based calculations we show that CO2 adsorption is enhanced by doping with metals down a group but worsened along the d series. Adsorption sites, dispersion and coverage appear to play a minor, secondary constant effect. The dopant-induced adsorption enhancement is highly biased by the charge rearrangement at the surface. In all cases, CO2 activation is found but doping can shift the desorption temperature by up to 135 K.

Elucidating mysteries of phase-segregated membranes: mobile-lipid recruitment facilitates pores' passage to the fluid phase.

Phase segregation of multicomponent lipid bilayers leads to, under phase-coexistence conditions, domain formation, featuring delimitation by essentially one-dimensional borders. (Micro-)phase segregation of bilayers is proposed to influence the physiological behaviour of cell membranes and provides the driving force for lipid-raft formation. Experiments show a maximum in the electrical-conductivity of membranes at the phase-transition point, which has been conjectured to arise from border-nucleated transmembrane-conducting defects or pores. However, recent electroporation experiments on phase-segregated bilayers demonstrate electro-pore detection in the liquid disordered phase (Ld), wherein they diffuse over macroscopic periods without absorption into the liquid ordered phase (Lo). Here, we scrutinise transmembrane-pore formation via molecular dynamics simulations on a multicomponent phase-segregated bilayer. We find that pores created in Lo domains always migrate spontaneously to the Ld phase, via 'recruitment' of unsaturated lipids to the pore's rim to transport the pore to the fluid phase under a large stress-field driving force. Once in Ld domains, pores migrate towards their centre, never returning or pinning to Lo. These findings are explained by thermodynamics. By comparing the free-energy cost for creating pores in the bulk of Ld and Lo membranes, and in the phase-segregated system, we show that it is always more energetically tractable to create pores in Ld domains, independent of the pore size.

Childhood osteosarcoma: Incidence and survival in Argentina. Report from the National Pediatric Cancer Registry, ROHA Network 2000-2013.

BACKGROUND: Differences in incidence and survival in osteosarcoma reports are considerable worldwide. PURPOSE: This study describes the incidence and survival of patients with osteosarcoma in Argentina with data from the National Pediatric Cancer Registry (ROHA), and the impact of age, gender, stage, regional, and socioeconomic indicators on outcome. METHODS: Pediatric patients with osteosarcoma reported to ROHA from 2000 through 2013 were analyzed, the annual age-standardized incidence rate (ASR) was calculated using the National Vital Statistics, and survival was estimated. The extended human development index (EHDI) for each reporting region was used as an indicator of socioeconomic status. RESULTS: There were 515 cases of osteosarcoma identified, yielding an ASR of 3.2/1,000,000 children (0-14 years old). The ASR did not vary significantly by year of diagnosis but ranged from 4.0/1,000,000 in the Cuyo/Western Central region to 2.7/1,000,000 in the northeast region (P < 0.000). The estimated 5-year survival rate was 45% (95% confidence interval [CI] 44-51%), with no difference by sex, diagnosis year, region, or EHDI score (P > 0.1 in all cases). Survival rate for localized disease was 52% (95% CI 45-57%) and for metastatic 22% (95% CI 15-30%). CONCLUSIONS: In Argentina, ASR of osteosarcoma is similar to that in high-income countries, but survival is lower in all regions. Future work will focus on identification and reduction of causes of preventable treatment failure.

Childhood Neuroblastoma: Incidence and Survival in Argentina. Report from the National Pediatric Cancer Registry, ROHA Network 2000-2012.

BACKGROUND: There are reports indicating a low incidence of neuroblastoma (NB) in some developing countries but no conclusive data are available from population-based studies at a national level. PURPOSE: To describe the incidence and survival of 971 patients with NB in Argentina with data from the National Pediatric Cancer Registry (ROHA), and the impact of age, gender, stage, regional, and socioeconomic indicators on outcome. METHODS: All cases of NB reported to ROHA (2000-2012) were the subject of the analysis. Annual-standardized incidence rate (ASR) was calculated using the National Vital Statistics and survival was estimated. The extended human development index (EHDI) was used as the socioeconomic indicator. RESULTS: ASR was 8.3/1,000,000 children (0-14 years) and remained stable along this period. Regional variation in ASR ranged from 3.4 in the Northwest to 9.8 in the Central region, being most marked in the first year of life. Five-year survival rate (SR) was 47%, with no sex difference. For patients older than 18 months, it was 36%, for stage IV 23%, for those born in the Northeast region 38%, and for those with an amplified MYCN 15%. Residents in provinces with a higher EHDI had a better 5-year survival (57% vs. 41% for lower EHDI) and higher ASR (12.3 vs. 5.6 for lower EHDI). Stage and MYCN status showed an independent inferior prognosis. CONCLUSIONS: ASR of NB in Argentina is lower than in developed countries, with considerable regional variation. SRs are also lower than in developed countries.

The analysis of clonal diversity and therapy responses using STAT3 mutations as a molecular marker in large granular lymphocytic leukemia.

T-cell large granular lymphocytic leukemia and chronic lymphoproliferative disorder of natural killer cells are intriguing entities between benign and malignant lymphoproliferation. The molecular pathogenesis has partly been uncovered by the recent discovery of somatic activating STAT3 and STAT5b mutations. Here we show that 43% (75/174) of patients with T-cell large granular lymphocytic leukemia and 18% (7/39) with chronic lymphoproliferative disorder of natural killer cells harbor STAT3 mutations when analyzed by quantitative deep amplicon sequencing. Surprisingly, 17% of the STAT3-mutated patients carried multiple STAT3 mutations, which were located in different lymphocyte clones. The size of the mutated clone correlated well with the degree of clonal expansion of the T-cell repertoire analyzed by T-cell receptor beta chain deep sequencing. The analysis of sequential samples suggested that current immunosuppressive therapy is not able to reduce the level of the mutated clone in most cases, thus warranting the search for novel targeted therapies. Our findings imply that the clonal landscape of large granular lymphocytic leukemia is more complex than considered before, and a substantial number of patients have multiple lymphocyte subclones harboring different STAT3 mutations, thus mimicking the situation in acute leukemia.

Membrane Binding Strength vs Pore Formation Cost─What Drives the Membrane Permeation of Nanoparticles Coated with Cell-Penetrating Peptides?

Cell-penetrating peptides (CPPs) enable the transport of nanoparticles through cell membranes. Using molecular simulations, we conduct an in-depth investigation into the thermodynamic forces governing the passive translocation of CPP-coated nanoparticles across lipid bilayers, contrasting their behavior with that of bare particles to dissect the contribution of the peptides. Our analysis unveils a distinctive two-stage translocation mechanism, where the adsorption energy of the particles overcomes the cost of forming a hydrophilic transmembrane pore. Proper evaluation of the translocation mechanisms is only possible when using two reaction coordinates, in particular, one that explicitly includes the density of the lipids on the binding site of the particle. An analysis of adsorption and activation free energies in terms of a simple kinetic model provides a clearer understanding of the CPP effect. Experimental validation using nonendocytic cells confirms the superior membrane permeation of CPP-coated particles. Our findings have implications for the rational design of more efficient cell-permeating particles.

C-Peptide and BMi predict anti-hyperglycemic treatment lines in breast cancer patients treated with Alpelisib.

PURPOSE: Alpelisib is a PI3K (Phosphoinositide 3-kinases) inhibitor used for breast cancer which develops hyperglycemia based on its action on glucose metabolism regulation. This study aims to identify potential risk factors predicting hyperglycemia development and the need for multiple treatments for hyperglycemia in patients receiving Alpelisib. METHODS: Fourteen women diagnosed with metastatic hormone receptor-positive breast cancer carrying PI3K mutations who initiated treatment with Alpelisib were monitored through consultations in the Oncology and Endocrinology departments. Non-parametric ROC curves were generated to assess the need for three or more antidiabetic medications to achieve glycemic control. RESULTS: The study population had a median age of 64 years (range:48-69) with a median body mass index (BMI) of 26.6 kg/m2 (range: 22.9-29.4). Overweight was observed in 35.7% of the participants and obesity in 21.4%. Fifty percent of the participants had prediabetes, and 85.7% developed hyperglycemia requiring pharmacological treatment, although none of them needed to discontinue treatment for this reason. Baseline C-peptide levels and BMI were associated with the number of antidiabetic drugs used (Spearman's Rho 0.553, p = 0.040; Spearman's Rho 0.581, p = 0.030, respectively). ROC curve analysis showed and area under the curve (AUC) of 0.819 for the variable risk profile (defined as baseline C-peptide >10.5 ng/ml and BMI > 27 kg/m2), whereas AUC values were 0.556 and 0.514 for HbA1c and baseline glucose, respectively, (p = 0.012). CONCLUSION: A joint follow-up by an Oncology department and a Diabetes Unit can prevent treatment discontinuation in patients under Alpelisib therapy. Baseline BMI and plasma C-peptide levels can predict an increased need for anti-hyperglycemic treatment.

Ultrasound screening for abdominal aortic aneurysm in primary care. / Utilidad de la ecografía en el cribado del aneurisma de aorta abdominal en atención primaria.

INTRODUCTION: Abdominal aortic aneurysm (AAA) constitutes a pathology with high mortality. There is currently no screening program implemented in primary care in Spain. OBJECTIVES: To evaluate the usefulness of ultrasound in the detection of AAA in the at-risk population in primary care. Secondarily, to identify subjects whose vascular risk (VR) should be reclassified and to determine whether AAA is associated with the presence of carotid plaque and other risk factors. MATERIAL AND METHODS: Cross-sectional, descriptive, multicenter, national, descriptive study in primary care. SUBJECTS: A consecutive selection of hypertensive males aged between 65 and 75 who are either smokers or former smokers, or individuals over the age of 50 of both sexes with a family history of AAA. MEASUREMENTS: Diameter of abdominal aorta and iliac arteries; detection of abdominal aortic and carotid atherosclerotic plaque. VR was calculated at the beginning and after testing (SCORE). RESULTS: One hundred and fifty patients were analyzed (age: 68.3±5 years; 89.3% male). Baseline RV was high/very high in 55.3%. AAA was detected in 12 patients (8%; 95% CI: 4-12); aortic ectasia in 13 (8.7%); abdominal aortic plaque in 44% and carotid plaque in 62% of the participants. VR was reclassified in 50% of subjects. The detection of AAA or ectasia was associated with the presence of carotid plaque, current smoking and lipoprotein(a), p<0.01. CONCLUSIONS: The prevalence of AAA in patients with VR is high. Ultrasound in primary care allows detection of AAA and subclinical atherosclerosis and consequently reclassification of the VR, demonstrating its utility in screening for AAA in the at-risk population.

Low input capture Hi-C (liCHi-C) identifies promoter-enhancer interactions at high-resolution.

Long-range interactions between regulatory elements and promoters are key in gene transcriptional control; however, their study requires large amounts of starting material, which is not compatible with clinical scenarios nor the study of rare cell populations. Here we introduce low input capture Hi-C (liCHi-C) as a cost-effective, flexible method to map and robustly compare promoter interactomes at high resolution. As proof of its broad applicability, we implement liCHi-C to study normal and malignant human hematopoietic hierarchy in clinical samples. We demonstrate that the dynamic promoter architecture identifies developmental trajectories and orchestrates transcriptional transitions during cell-state commitment. Moreover, liCHi-C enables the identification of disease-relevant cell types, genes and pathways potentially deregulated by non-coding alterations at distal regulatory elements. Finally, we show that liCHi-C can be harnessed to uncover genome-wide structural variants, resolve their breakpoints and infer their pathogenic effects. Collectively, our optimized liCHi-C method expands the study of 3D chromatin organization to unique, low-abundance cell populations, and offers an opportunity to uncover factors and regulatory networks involved in disease pathogenesis.

[Quality of life after a social-physical activity community intervention in elderly people with social risk. Clinical trial]. / Calidad de vida tras una intervención comunitaria sociomotriz en mayores con riesgo social. Ensayo clínico.

OBJECTIVE: To assess the effectiveness of a social-physical activity program to improve the health-related quality of life of patients over 65years old with social risk. MATERIAL AND METHODS: Randomized clinical trial. SETTING: Community; primary care and public schools. SUBJECTS: patients over 65years old with social risk, who went to the health center during the study period and met the inclusion criteria, n=102. INTERVENTIONS: Subjects were randomized into two groups. The intervention group conducted two weekly sessions of 1hour of physical exercise, for 4months; monthly sessions on healthy habits and three days of social activities. The control group received the usual advice. Quality of life was assessed using the SF-36 questionnaire; previously and at the end of the program. RESULTS: The study was completed by 80 subjects (mean age 71.5±5 years; 91.3% women). Baseline, there were no significant differences between groups, and their standardized physical and mental summary components of the SF-36 were below the population reference values (P<.01). After the program, the intervention group improved significantly, compared to the control group, in the 8 scales of the SF-36 and in the summary components, with a greater increase of 4points (P<.01) in the physical component, and 10 points in the mental component (p<0.01). CONCLUSIONS: The community program of social-physical activity intervention improves the health-related quality of life in older people at social risk.

[Functional physical condition after a multi-component community intervention of active aging: Pragmatic clinical trial]. / Condición física funcional tras una intervención comunitaria multicomponente de envejecimiento activo. Ensayo clínico pragmático.

OBJECTIVE: The objective is to assess the effectiveness of a multicomponent program of active aging in the improvement of the functional physical condition of patients older than 65years old with social risk. MATERIAL AND METHODS: Pragmatic clinical trial non-blinded. SETTING: Community activity; primary care and public education center. PARTICIPANTS: Patients older than 65years and diagnosed with social risk. The patients who attended at the health center and fulfilled the inclusion criteria were selected consecutively (n=102). INTERVENTIONS: The patients were randomized into the intervention group or to the control group. The intervention included two weekly sessions of 1h of exercise during 4months, monthly health education sessions, and three days of social activities. The control group received the regular tips. The physical conditions were evaluated before and at the end the study. RESULTS: Eighty of the patients completed the study. Their middle age was 71.5±5 years old, and 91.3% of them were women. There was no significant differences between both groups. After the intervention, all the test for physical qualities improved in the intervention group; in the 6-minutes walk test the patients improved their mark in a 98% from the baseline marks, with an average increase of 65±35m. Flexibility improved in the 60% of the patients (95%CI: 50-70); strength increased an 84% (95%CI: 76-92), and dynamic balance increased a 79% (95%CI: 70-88). In control group improve some test marks but it had no statistical significance. CONCLUSIONS: The socio-motor intervention program coordinated between health services and educational centers improves the functional physical condition of the elderly with social risk.

[Primary vaginal yolk sac tumor in a girl. Case report]. / Tumor del saco vitelino primario de vagina en una niña. A propósito de un caso.

Gynecological neoplasms in girls are rare and represent only less than 5 % of all childhood tumors. There are no statistics on the incidence of vaginal tumors at this stage in life. We present a 9-month-old girl evaluated for genital bleeding. Ultrasound reveals a vaginal solid mass and vaginoscopy reports a friable tumor. AFP is elevated. A yolk sac tumor is confirmed by biopsy she receives chemotherapy. Within a year after diagnosis, she remains tumor-free. This is a case of interest, not only because of its rarity, but also because a rapid diagnosis of a yolk sac tumor improves outcomes and patient's survival rates.

Las neoplasias ginecológicas en niñas son raras. Representan menos del 5 % de todos los cánceres en pediatría. No existen estadísticas sobre la incidencia de tumores de vagina en esta etapa de la vida. Se presenta el caso de una niña de 9 meses con sangrado por genitales. La ecografía evidencia una masa sólida en vagina, y la vaginoscopia, un tumor friable. Presenta valores de α-fetoproteína elevados, por lo que se diagnostica tumor de saco vitelino, confirmado por biopsia. Se realiza tratamiento quimioterápico. A menos de 1 año del diagnóstico, se encuentra en remisión completa. Este caso resulta de interés no solo por la rareza, sino también porque el diagnóstico rápido de tumor de saco vitelino permite mejorar los resultados y la sobrevida de las pacientes.