Clinical characteristics and prognostic factors of patients with Philadelphia-negative myeloproliferative neoplasm accelerated/blast phase / 中华血液学杂志

Objective: To evaluate the clinical characteristics and prognostic factors of patients with Philadelphia-negative myeloproliferative neoplasm-accelerated phase/blast phase (MPN-AP/BP) . Methods: A total of 67 patients with MPN-AP/BP were enrolled from February 2014 to December 2021 at the Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences. Their clinical features and prognostic factors were analyzed retrospectively. Results: ① Sixty-seven patients with MPN-AP/BP with a median age of 60 (range, 33-75) years, including 31 males (46.3% ) and 36 females (53.7% ) , were analyzed. Forty-eight patients progressed from primary myelofibrosis (PMF) , and 19 progressed from other myeloproliferative neoplasms (MPNs) , which included polycythemia vera, essential thrombocythemia, and MPN unclassifiable. Patients who progressed from PMF had higher lactate dehydrogenase (LDH) levels than those who progressed from other MPNs (925.95 vs. 576.2 U/L, P=0.011) , and there were higher proportions of patients who progressed from PMF with splenomegaly (81.4% vs. 57.9% , P=0.05) , a myelofibrosis grade of ≥2 (93.6% vs. 63.2% , P=0.004) , and a shorter duration from diagnosis to the transformation to AP/BP (28.7 vs. 81 months, P=0.001) . ② JAK2V617F, CALR, and MPLW515 were detected in 41 (61.2% ) , 13 (19.4% ) , and 3 (4.5% ) patients, respectively, whereas 10 (14.9% ) patients did not have any driver mutations (triple-negative) . Other than driver mutations, the most frequently mutated genes were ASXL1 (42.2% , n=27) , SRSF2 (25% , n=16) , SETBP1 (22.6% , n=15) , TET2 (20.3% , n=13) , RUNX1 (20.3% , n=13) , and TP53 (17.2% , n=11) . The ASXL1 mutation was more enriched (51.1% vs. 21.1% , P=0.03) , and the median variant allele fraction (VAF) of the SRSF2 mutation (median VAF, 48.8% vs. 39.6% ; P=0.008) was higher in patients who progressed from PMF than those who progressed from other MPNs. ③ In the multivariate analysis, the complex karyotype (hazard ratio, 2.53; 95% confidence interval, 1.06-6.05; P=0.036) was independently associated with worse overall survival (OS) . Patients who received allogeneic stem cell transplantation (allo-HSCT) (median OS, 21.3 vs. 3 months; P=0.05) or acute myeloid leukemia-like (AML-like) therapy (median OS, 13 vs. 3 months; P=0.011) had significantly better OS than those who received supportive therapy. Conclusion: The proportions of patients with PMF-AP/BP with splenomegaly, myelofibrosis grade ≥2, a higher LDH level, and a shorter duration from diagnosis to the transformation to AP/BP were higher than those of patients with other Philadelphia-negative MPN-AP/BP. The complex karyotype was an independent prognostic factor for OS. Compared with supportive therapy, AML-like therapy and allo-HSCT could prolong the OS of patients with MPN-AP/BP.

Clinical and molecular characteristics and prognosis of classical hairy cell leukemia and hairy cell leukemia variant / 中华内科杂志

Objective: To evaluate the clinical characteristics, treatment response, and outcomes in patients with classical hairy cell leukemia (cHCL) and HCL variant (HCL-V). Methods: This is a retrospective case series study. Between January 2011 and December 2021, clinical data of 30 patients newly with diagnosed HCL at Peking Union Medical College Hospital were analyzed. The main outcome measures include clinical characteristics, treatment efficacy and survival. The Kaplan-Meier method was used for survival analysis. Results: Twenty-one cases of cHCL and 9 cases of HCL-v were included. The median age at diagnosis was 55.5 (range, 30-86) years, with the ratio of male to female 2.75∶1. The main clinical manifestations included fatigue in 11 cases (36.7%), abdominal distension in 7 cases (23.3%), and infection in 4 cases, while 8 cases were asymptomatic. Splenomegaly was reported in 24 cases (80.0%), including 7 (23.3%) with megalosplenia. The white blood cell count, lymphocyte count, and the proportion of peripheral hairy cells in HCL-v group were significantly higher than those in cHCL group, whereas the development of anemia, thrombocytopenia, and monocytopenia in cHCL group was more remarkable than that in HCL-v group (all P<0.05). The BRAF-V600E gene mutation was detected only in cHCL patients (11/14 vs. 0/9, P<0.001). In terms of immunophenotype, the expression of CD25, CD103, CD123 and CD200 in cHCL group (20/20, 20/20, 4/7, 7/17) were all stronger than those in HCL-v group (3/9, 7/9, 0/4, 2/8). Twenty-two patients were treated, of which 13 cases (12 cases of cHCL and 1 case of HCL-v) with cladribine, and 9 cases (4 cHCL and 5 HCL-v) with interferon. Complete remission rate and overall response rate were comparable between cladribine and interferon treatment groups (both P<0.05). The median follow-up time was 31 (range, 1-125) months, and the median overall survival (OS) of the entire group was 125 months. The 5-year OS rate in HCL-v patients represented a trend of inferior (50.0% vs. 95.0%, P=0.207). Conclusions: The clinical features of HCL are unspecific, which includes fatigue, splenomegaly and recurrent infection. The clinical features, immunophenotype, treatment response and prognosis of HCL-v are different from those of cHCL. BRAF-V600E gene mutation is suggested as a key marker for differential diagnosis. Cladribine is recommended as front-line regimen of cHCL patients with satisfactory efficacy and prognosis. Conversely, response and clinical outcome in HCL-v patients still need to be improved.

Clinical Features and Prognosis of Patients with Castleman's Disease / 中国实验血液学杂志

OBJECTIVE@#To analyze the clinical features and prognosis of patients with Castleman's disease (CD) and improve the diagnosis and treatment of CD.@*METHODS@#Clinical data of patients diagnosed with CD by pathological biopsy in Gansu Provincial Hospital from January 2009 to November 2020 were retrospectively analyzed. According to clinical classification, the patients were divided into two groups: UCD (unicentric CD) group (n=20) and MCD (multicentric CD) group (n=9). The clinical manifestations, laboratory examination, treatment regimens, pathological examination and follow-up data were statistically analyzed.@*RESULTS@#There were no significant differences in average age and gender ratio between UCD group and MCD group. In UCD patients, 80.0% were hyaline vascular type, and 20.0% were plasma cell type. In MCD patients, 33.3% were hyaline vascular type, 55.6% were plasma cell type, and 11.1% were mixed type. There was significant difference in pathological classification between the two groups (P=0.039). The UCD patients usually presented asymptomatic single lymph node enlargement with mild clinical symptoms, while the MCD patients were characterized by multiple superficial and deep lymph node enlargement throughout the body. The incidences of asthenia, splenomegaly, serous effusion in MCD group were higher than those in UCD group (P<0.05). Meanwhile, the incidences of anemia, hypoproteinemia, increased ESR, elevated serum globulin and elevated β2-microglobulin were significantly higher than those in UCD group too (P<0.05). There was no significant difference in the incidences of abnormal WBC, PLT and elevated LDH between the two groups (P>0.05). Among 20 patients with UCD, 13 cases reached complete remission (CR), 1 case achieved partial remission (PR). Among 9 patients with MCD, 3 cases received CR and 4 cases received PR.@*CONCLUSION@#Patients with CD requires pathological examination for diagnosis. Patients with UCD show mild clinical symptoms, good surgical treatment effect and good prognosis. Patients with MCD have diversified clinical manifestations and relatively poor prognosis, and these patients require comprehensive treatment.

Characteristics of plasma Epstein-Barr virus DNA in children with primary infection / 中华儿科杂志

Objective: To explore the characteristics of plasma Epstein-Barr virus (EBV) DNA in primary infection in pediatric cases. Methods: The laboratory and clinical data of 571 children diagnosed with EBV primary infection in Children's Hospital of Fudan University during September 1st, 2017 to September 30th, 2018 were retrospectively analyzed. According to the results of plasma EBV DNA, they were divided into positive group and negative group. According to the EBV DNA, they were devided into high plasma virol load group and low plasma virol load group. The Chi-square test, Wilcoxon rank sum test were used to compare the differences between groups. Results: Among the 571 children with EBV primary infection, 334 were males and 237 were females. The age of first diagnosis was 3.8 (2.2, 5.7) years. There were 255 cases in positive group and 316 cases in negative group. The percentage of cases with fever,hepatomegaly and (or) splenomegaly, elevated transaminase in the positive group were higher than those in the negative group (235 cases (92.2%) vs. 255 cases (80.7%), χ2=15.22, P<0.001; 169 cases (66.3%) vs. 85 cases (26.9%), χ2=96.80, P<0.001; and 144 cases (56.5%) vs. 120 cases (38.0%), χ2=18.27, P<0.001; respectively).In the positive group, 70 cases were followed up for 46 (27, 106) days, 68 cases (97.1%) turned negative within 28 days, with the exception of 2 cases (2.9%) developed chronic active EBV infection by follow-up revision.There were 218 cases in high plasma viral DNA copies group and 37 cases in low copies group. More cases presented with elevated transaminases in the high plasma viral DNA copies group than those in the low group (75.7% (28/37) vs. 56.0%(116/207), χ2=5.00, P=0.025).Both the positive rate of EBV DNA in peripheral blood leukocytes (84.2% (266/316) vs. 44.7% (255/571), χ2=76.26, P<0.001) and the copies of EBV DNA (7.0×107 (1.3×107, 3.0×108) vs. 3.1×106 (1.6×106, 6.1×106) copies /L, Z=15.23, P<0.001) were higher than that of plasma. Conclusions: In immunocompetent pediatric cases diagnosed as EBV primary infection, cases with positive plasma EBV DNA were prone to have fever, hepatomegaly and (or) splenomegaly, and elevated transaminase than those with negative plasma viral DNA. The plasma EBV DNA usually turns negative within 28 days after initial diagnosis.Most cases with high viral load in plasma showed elevated aminotransferase.

Clinical and genetic diagnosis for 26 paitents with hereditary spherocytosis / 中南大学学报(医学版)

OBJECTIVES@#Hereditary spherocytosis (HS) is the most common hereditary defect of the red cell membrane, mainly characterized by anemia, jaundice, and splenomegaly. Due to the atypical clinical manifestations and negative family history of some patients, as well as the low sensitivity and specificity of traditional laboratory examinations, it is easy for it to escape diagnosis or be misdiagnosed. At present, it has been confirmed that the mutation of ANK1, SPTB, SPTA1, SLC4A1 and EPB42 genes can cause the deletion of their corresponding coding proteins, and thus lead to the defect of erythrocyte membrane. This study aims to analyze the feasibility and clinical application value of HS gene diagnosis.@*METHODS@#Data of 26 patients from Hunan, China with HS admitted to the Department of Hematology, Second Xiangya Hospital of Central South University from January 2018 to September 2021 were retrospectively collected, and their clinical manifestations and results of laboratory examinations were analyzed. Next-generation sequencing (NGS) combined with Sanger sequencing were applied. The mutation of HS pathogenic gene and the variation of uridine diphosphate-glucuronosyl transferase 1 family polypeptide A1 (UGT1A1), a key enzyme in the regulation of bilirubin metabolism, were detected. The results of pathogenic gene variations were interpreted pathogenic gene variations in accordance with the Standards and guidelines for the interpretation of sequence variants published by the American College of Medical Genetics and Genomics (ACMG). The clinical characteristics of patients with different gene variants were analyzed, and the clinical diagnosis and genetic diagnosis were compared.@*RESULTS@#Among the 26 patients with HS, there were 23 cases of anemia, 25 cases of jaundice, 24 cases of splenomegaly, and 14 cases of cholelithiasis. There were 16 cases with family history and 10 cases without family history. The results of HS mutation test were positive in 25 cases and negative in 1 case. A total of 18 heterozygous mutations of HS pathogenic genes were detected in 19 families, among which 14 were pathogenic, 1 was likely pathogenic and 3 were of unknown significance. SPTB mutations (12) and ANK1 mutations (4) were the most common. The main variation types were nonsense mutation (9). There were no significant differences in peripheral blood cell parameters and hemolysis indicators between the SPTB mutant group and the ANK1 mutant group (all P>0.05). The rate of splenectomy in ANK1 mutation group was higher than that in SPTB mutation group, and the difference was statistically significant (χ2=6.970, P=0.014). There were no significant differences in peripheral blood cell parameters and hemolysis indicators among different mutation types (nonsense mutation, frameshift mutation, splice site mutation and missense mutation) (all P>0.05). Among the 18 clinically confirmedpatients, there were 17 cases whose diagnosis is consistent with the genetic diagnosis. Eight patients were clinically suspected, and all of them were confirmed by detection of HS gene mutation. Twenty-four patients with HS underwent UGT1A1 mutation detection, among which 5 patients carried UGT1A1 mutation resulting in a decrease in enzyme activity, and 19 patients had normal enzyme activity. The level of total bilirubin (TBIL) in the group with reduced enzyme activity was higher than that in the group with normal enzyme activity, and the difference was statistically significant (U=22, P=0.038).@*CONCLUSIONS@#Most patients with HS have anemia, jaundice and splenomegaly, often accompanied by cholelithiasis. SPTB and ANK1 mutations are the most common mutations in HS pathogenic genes among patients in Hunan, China, and there was no significant correlation between genotype and clinical phenotype. Genetic diagnosis is highly consistent with clinical diagnosis. The decrease of UGT1A1 enzyme activity can lead to the aggravation of jaundice in HS patients. Clinical combined gene diagnosis is beneficial for the rapid and precision diagnosis of HS. The detection of UGT1A1 enzyme activity related gene variation plays an important role in evaluation of HS jaundice.

Recent Research Advance to Differentiate Portal Hypertension Associated with Primary Myelofibrosis and Cirrhosis --Review / 中国实验血液学杂志

Primary myelofibrosis (PMF) is easily confused with cirrhosis, due to its main clinical manifestations of splenomegaly and the blood cytopenia. This review focuses on clinical studies to identify primary myelofibrosis and cirrhosis related portal hypertension, to analyze the differences between the two diseases, in order to distinguish PMF and cirrhosis from the pathogenesis, clinical manifestations, laboratory examinations and treatment principles, and simultaneously improve clinicians' understanding of PMF, which is a reference for exploring the early screening or diagnostic indicators of PMF, also provides a clinical basis for the application of new targeted drugs such as ruxolitinib.

Avaliação por imagem de medidas esplênicas e tímicas como biomarcadores de resposta em pacientes com câncer tratados com imunoterapia / Imaging evaluation of thymic and splenic measurements as response biomarkers in cancer patients treated with immunotherapy

INTRODUÇÃO: Em menos de duas décadas, a imunoterapia consolidou-se como um dos pilares do tratamento do câncer. Apesar da sua potencial elevada eficácia e resposta duradoura, a proporção de pacientes que apresentam resposta objetiva é relativamente baixa e existem poucos biomarcadores para selecionar os pacientes com maior potencial de resposta. OBJETIVO: Nossa hipótese era de que era possível avaliar globalmente o sistema imune do paciente através da mensuração por imagem do timo e do baço e usar essas métricas como fator prognóstico e preditivo de resposta a bloqueadores de checkpoint. RESULTADOS: Os principais resultados foram: 1) As medidas tímicas não se correlacionam com a sobrevida em pacientes tratados com imunoterapia; 2) Há aumento do volume esplênico após o uso de imunoterapia na maior parte dos pacientes, mas o grau de aumento não se correlaciona com resposta à terapia; 3) Maior volume esplênico está associado a pior sobrevida livre de progressão em pacientes com melanoma tratados com imunoterapia, mas essa correlação não pôde ser replicada em outros tipos tumorais. CONCLUSÃO: a espessura tímica não se correlaciona com desfechos clínicos em pacientes oncológicos tratados com imunoterapia. Menor volume esplênico antes de iniciar imunoterapia está relacionada a melhor prognóstico em pacientes com melanoma, mas não em outros tipos tumorais.

INTRODUCTION: In less than two decades, immunotherapy has established itself as one of the pillars of cancer treatment. Despite its potentially high efficacy and long-lasting response, the proportion of patients who have an objective response is relatively low and there are few biomarkers to select patients with the greatest response potential. OBJECTIVE: Our hypothesis was that it was possible to assess the patient's immune system globally by measuring the thymus and spleen by imaging and using these metrics as a prognostic and predictive factor of response to immune checkpoint inhibitors. RESULTS: The main results were: 1) Thymic measurements do not correlate with survival in patients treated with immunotherapy; 2) There is an increase in splenic volume after the use of immunotherapy in most patients, but the degree of increase does not correlate with response to therapy; 3) Greater splenic volume is associated with worse progression free survival in patients with melanoma treated with immunotherapy, but this correlation could not be replicated in other tumor types. CONCLUSION: thymic thickness does not correlate with clinical outcomes in cancer patients treated with immunotherapy. Smaller splenic volume before starting immunotherapy is associated with better prognosis in patients with melanoma, but not other tumor types

Reactivación de brucelosis en paciente receptor de trasplante hematopoyético autólogo: reporte de caso / Reactivation of brucellosis in an autologous hematopoietic transplant recipient: a case report

Introducción: La brucelosis es la zoonosis más frecuente, producida por el género brucella, que afecta a varias especies de mamíferos y dentro de ellos a los humanos. Se transmite al hombre por contacto directo con los animales infectados, por sus excretas o por la ingestión de productos no pasteurizados. En los últimos años se ha descrito un incremento de la enfermedad en los pacientes inmunocomprometidos. Objetivo: Describir la reactivación de la brucelosis en paciente receptor de un trasplante hematopoyético, su curso y manejo. Presentación de caso: Se presenta una paciente con linfoma de Hodgkin y antecedentes de brucelosis que recibió un trasplante hematopoyético autólogo mieloablativo. Después de la recuperación hematológica, inició con cuadro de fiebre, diaforesis, dolores articulares y hepato-esplenomegalia. Se le diagnosticó brucelosis, por lo que se inició tratamiento con doxiciclina y rifampicina, con lo que se logró la eliminación de los síntomas y la negativización de las pruebas evolutivas. Conclusiones: La brucelosis puede mantenerse meses o años asintomática y reactivarse después de la inmunosupresión en los pacientes trasplantados. Su sospecha y rápido tratamiento puede lograr la curación y evitar complicaciones(AU)

Introduction: Brucellosis is the most frequent zoonosis, produced by the genus brucella, which affects several species of mammals, including human beings. It is transmitted to persons by direct contact with infected animals, by their excreta or by ingestion of unpasteurized products. In recent years, an increase has been described in immunocompromised patients. Objectives: To describe the reactivation of brucellosis in a hematopoietic transplant recipient patient, its course and management. Case presentation: A patient with Hodgkin's lymphoma and a history of brucellosis is presented; that she received a myeloablative autologous hematopoietic transplant. After haematological recovery, she started with symptoms of fever, diaphoresis, joint pain and hepato-splenomegaly. She was diagnosed with brucellosis, so treatment with doxycycline and rifampin was started, which eliminated the symptoms and made the evolutionary tests negative. Conclusions: Brucellosis can be asymptomatic for months or years and after immunosuppression it can be reactivated in transplanted patients. Suspicion and prompt treatment can bring about a cure and avoid complications(AU)

Influencing factors of iron metabolism assessment in patients with myelodysplastic syndrome: A retrospective study / 中华血液学杂志

Objective: To analyze the influencing factors of iron metabolism assessment in patients with myelodysplastic syndrome. Methods: MRI and/or DECT were used to detect liver and cardiac iron content in 181 patients with MDS, among whom, 41 received regular iron chelation therapy during two examinations. The adjusted ferritin (ASF) , erythropoietin (EPO) , cardiac function, liver transaminase, hepatitis antibody, and peripheral blood T cell polarization were detected and the results of myelofibrosis, splenomegaly, and cyclosporine were collected and comparative analyzed in patients. Results: We observed a positive correlation between liver iron concentration and ASF both in the MRI group and DECT groups (r=0.512 and 0.606, respectively, P<0.001) , only a weak correlation between the heart iron concentration and ASF in the MRI group (r=0.303, P<0.001) , and no significant correlation between cardiac iron concentration and ASF in the DECT group (r=0.231, P=0.053) . Moreover, transfusion dependence in liver and cardiac [MRI group was significantly associated with the concentration of iron in: LIC: (28.370±10.706) mg/g vs (7.593±3.508) mg/g, t=24.30, P<0.001; MIC: 1.81 vs 0.95, z=2.625, P<0.05; DECT group: liver VIC: (4.269±1.258) g/L vs (1.078±0.383) g/L, t=23.14, P<0.001: cardiac VIC: 1.69 vs 0.68, z=3.142, P<0.05]. The concentration of EPO in the severe iron overload group was significantly higher than that in the mild to moderate iron overload group and normal group (P<0.001) . Compared to the low-risk MDS group, the liver iron concentration in patients with MDS with cyclic sideroblasts (MDS-RS) was significantly elevated [DECT group: 3.80 (1.97, 5.51) g/L vs 1.66 (0.67, 2.94) g/L, P=0.004; MRI group: 13.7 (8.1,29.1) mg/g vs 11.6 (7.1,21.1) mg/g, P=0.032]. Factors including age, bone marrow fibrosis, splenomegaly, T cell polarization, use of cyclosporine A, liver aminotransferase, and hepatitis antibody positive had no obvious effect on iron metabolism. Conclusion: There was a positive correlation between liver iron concentration and ASF in patients with MDS, whereas there was no significant correlation between cardiac iron concentration and ASF. Iron metabolism was affected by transfusion dependence, EPO concentration, and RS.

The left gastro-omental vessels are able to maintain the entire spleen blood supply / Os vasos gastromentais esquerdos são capazes de manter o suprimento sanguíneo de todo o baço

Abstract The spleen is supplied by blood flow through the splenic artery and vein. The purpose of this communication is to report an ectopic spleen supplied only by reverse flow through the left gastro-omental vessels. A 14-year-old boy presented with pelvic splenomegaly supplied only by the left gastro-omental artery and veins connected to the inferior polar vessels, which were the only vessels communicating with the spleen. After detorsion of the spleen and splenopexy, the spleen returned to normal dimensions. The patient had uneventful follow-up. In conclusion, the left gastroepiploic vessels are able to maintain the entire spleen blood supply.

Resumo O baço é suprido pelo fluxo sanguíneo da artéria e veia esplênicas. O objetivo desta comunicação é apresentar um baço ectópico suprido apenas pelo fluxo sanguíneo reverso proveniente dos vasos gastromentais esquerdos. Um paciente de 14 anos apresentou esplenomegalia pélvica suprida apenas por artéria e veia gastromentais esquerdas, conectadas aos vasos polares inferiores, que eram os únicos presentes nesse baço. Após a distorção do baço e a esplenopexia, o baço voltou às dimensões normais. Não houve intercorrências no acompanhamento do paciente. Em conclusão, os vasos gastromentais esquerdos são capazes de suprir o fluxo sanguíneo de todo o baço.

Esplenectomía laparoscópica en esplenomegalia masiva por linfoma no Hodgkin de zona marginal / Massive laparoscopic splenectomy for marginal zone non-Hodgkin lymphoma / Esplenectomia laparoscópica em esplenomegalia maciça devido a linfoma não-Hodgkin de zona marginal

Resumen: Introducción: si bien la esplenectomía laparoscópica en esplenomegalias masivas y supramasivas constituye un desafío técnico, su realización es factible y segura en centros con equipos con experiencia en cirugía laparoscópica. Objetivo: presentar el primer caso de esplenectomía laparoscópica en esplenomegalia masiva realizada en Uruguay. Caso clínico: se trata de una paciente de 70 años portadora de una pancitopenia periférica, esplenomegalia masiva y diagnóstico realizado por punción de médula ósea de neoplasia linfoproliferativa tipo B de bajo grado, a quien se le indicó la esplenectomía con fines diagnósticos y terapéuticos. La paciente se operó en decúbito lateral derecho a 15 grados, los trócares se colocaron bajo visión directa adaptados al tamaño del bazo que se extendía desde el diafragma hasta el estrecho superior de la pelvis. Se realizó la esplenectomía en un tiempo de 220 minutos, extrayéndose la pieza íntegra y sin haberla colocado en bolsa a través de un hemi Pfannenstiel, protegiendo la pared con un retractor de heridas quirúrgicas. No presentó complicaciones, fue dada de alta a las 48 horas. El hemograma realizado a las 24 horas demostró un aumento de las cifras de todas las series celulares y el informe anatomopatológico diagnosticó un linfoma no Hodgkin de zona marginal. Discusión: la esplenectomía laparoscópica en esplenomegalias masivas requiere de un mayor tiempo quirúrgico, aunque las pérdidas sanguíneas y la estadía hospitalaria son menores en comparación a los procedimientos convencionales, presentando una morbilidad similar. En la experiencia inicial de los equipos quirúrgicos se reporta un porcentaje de conversiones y reingresos cercanos al 30%.

Abstract: Introduction: despite the fact that laparoscopic splenectomy for massive and supramassive splenomegaly constitutes a technical challenge, it is a feasible and safe procedure in the context of institutions with experienced teams in laparoscopic surgery. Objective: to present the first case of laparoscopic splenectomy for massive splenomegaly in Uruguay. Clinical case: the study presents the case of a 70-year-old patient carrier of peripheral pancytopenia, massive splenomegaly and a diagnosis of type B lymphoproliferative neoplasm based on bone marrow aspiration and biopsy, who underwent diagnostic and therapeutic splenectomy. The patient was operated in supine position with a 15-degree tilt, the trocars were placed under direct view, adapted to the size of the spleen which went from the diaphragm until the superior pelvic outlet. Splenectomy was performed in 220 minutes, the entire piece was removed through a hemi Pfannenstiel incision, without placing it in a bag, the wall being protected with a surgical wound retractor. There were no complications and the patient was discharged from hospital 48 hours. The blood count performed after 24 hours evidenced increase in all cell series and the pathology report confirmed diagnosis of marginal zone non- Hodgkin lymphoma. Discussion: laparoscoppic splenectomy in massive splenomegaly requires of a greater surgical time, although blood loss and hospital star are lower when compared to conventional procedures and evidence similar morbility. The initial experience of surgical teams reports 30% of conversions and readmissions.

Resumo: Introdução: embora a esplenectomia laparoscópica em esplenomegalias massivas e supremassivas seja um desafio técnico, sua realização é viável e segura em centros com equipes com experiência em cirurgia laparoscópica. Objetivo: apresentar o primeiro caso de esplenectomia laparoscópica em esplenomegalia maciça realizada no Uruguai. Caso clínico: paciente de 70 anos com pancitopenia periférica, esplenomegalia maciça e diagnóstico feito por punção de medula óssea de neoplasia linfoproliferativa tipo B de baixo grau, com indicação de esplenectomia para fins diagnósticos e terapêuticos. A paciente foi operada em decúbito lateral direito a 15 graus, os trocartes foram colocados sob visão direta adaptados ao tamanho do baço que se estendia do diafragma ao estreito superior da pelve. A esplenectomia foi realizada em um tempo de 220 minutos, retirando-se toda a peça e sem colocá-la em bolsa por meio de uma hemi Pfannenstiel, protegendo a parede com afastador de ferida operatória. Sem apresentar complicações a paciente teve alta após 48 horas. O hemograma realizado 24 horas depois da cirurgia mostrou um aumento no número de todas as séries de células e o laudo anatomopatológico diagnosticou linfoma não Hodgkin de zona marginal. Discussão: a esplenectomia laparoscópica nas esplenomegalias maciças requer um tempo cirúrgico maior, embora as perdas sanguíneas e a permanência hospitalar sejam menores em comparação aos procedimentos convencionais, apresentando morbidade semelhante. Na experiência inicial das equipes cirúrgicas, é relatado um percentual de conversões e readmissões próximo a 30%.

Torsión e infarto esplénico en paciente pediátrico. Presentación de caso / Torsion and Splenic Infarction in Pediatric Patient. A Case Report

El bazo errante es una patología poco común, en la cual el bazo se encuentra fuera de su ubicación habitual, como consecuencia de una laxitud anormal o ausencia de ligamentos, lo cual predispone a torsión e infarto; es más frecuente en niños menores de 10 años y en mujeres en la tercera década de la vida. A menudo, los pacientes consultan por una masa abdominal asintomática, o síntomas gastrointestinales subagudos e incluso abdomen agudo. El diagnóstico se realiza mediante imágenes y su manejo es quirúrgico. El caso examinado corresponde a una paciente de sexo femenino de 11 años de edad, diagnosticada con torsión e infarto esplénico mediante ecografía y tomografía axial computarizada (TAC); se realiza manejo quirúrgico sin complicaciones

Wandering spleen is a rare pathology in which the spleen is not in its usual location, secondary to abnormal laxity or absence of ligaments, predisposing to torsion and infarction, more frequent in children under 10 years of age and women in the third decade of life. Patients often consult for an asymptomatic abdominal mass or subacute gastrointestinal symptoms and even acute abdomen. Diagnosis is made through images and its management is surgical. In this case, an 11-year-old female patient is presented, diagnosed with splenic torsion and infarction by computerized axial tomography (CT) and ultrasound. Surgical management is performed without complications

Mantle cell lymphoma presenting with lethal atraumatic splenic rupture

Mantle cell lymphoma is characterized by t(11;14) with CCND1-IGH fusion and manifests with a spectrum of disease ranging from relatively indolent to aggressive. Here, we present a case of pleomorphic mantle cell lymphoma with three fusion signals that presented with lethal atraumatic splenic rupture. We discuss on the implications of variant CCND1 signal patterns as well as the epidemiology and pathophysiology of atraumatic splenic rupture.

Linfoma hepatoesplénico de células T en un paciente adolescente / Hepatosplenic T-cell lymphoma in an adolescent patient

Resumen Introducción: Los linfomas de células T son infrecuentes y se caracterizan por presentarse en la población de los adultos jóvenes. Además, suele acompañarse de patologías como la anemia moderada, hepatoesplenomegalia y trombocitopenia e infiltración sinusoidal por linfocitos T en células de médula ósea, bazo e hígado. Caso clínico: Se presenta un caso clínico de un adolescente que tiene los síntomas característicos de esta patología, con sospecha clínica y diagnóstico paraclínico confirmado con histoquímica de médula ósea. Conclusión: Es una entidad infrecuente de pronóstico desfavorable, hasta el momento el paciente está estable recibiendo tratamiento. Para utilizar el enfoque adecuado en el diagnóstico y brindar tratamiento, es necesario considerar todos los hallazgos clínicos.

Abstract Introduction: T-cell lymphomas are uncommon; these tend to be present in young adult patients. Additionally, this condition is characterized by the existence of pathologies like moderate anemia, hepatosplenomegaly disorder, thrombocytopenia and sinusoidal infiltration by T-Lymphocytes in bone marrow cells, spleen and liver. In this study a case of this rare lymphoma is going to be presented. Case report: A clinical case of an adolescent who presents the characteristic symptoms of this pathology is exposed. This clinical suspicion held a paraclinical diagnosis that was confirmed by histochemistry of bone marrow tests. Conclusion: It is an infrequent condition with an unfavorable prognosis. Until now the patient remains stable and is receiving treatment, the clinical findings of the disease raise awareness about the importance of carrying out the appropriate diagnosis procedures and providing treatment.

Hepatoesplenomegalia relacionada a linfoma de Burkitt en paciente pediátrico / Hepatoesplenomegalia related to Burkitt´s lymphoma in a pediatric patient

RESUMEN El linfoma de Burkitt, se trata de un subtipo poco frecuente del linfoma no Hodgkin, con elevada frecuencia en aquellos pacientes con sida. La hepatoesplenomegalia es un signo clínico de gran importancia para el diagnóstico oportuno de algunas patologías; entre los mecanismos de formación de la hepatoesplenomegalia se encuentra la infiltración celular, ocasionada por la migración de células tumorales. Se presenta por inflamaciones debido a la presencia de infecciones por virus o bacterias las cuales son muy comunes en pacientes con sida. Se presentó un caso de un paciente masculino de 4 años, diagnosticado con VIH positivo, con la configuración correspondiente de criterios clínicos en clasificación C para sida. El cual desarrolló a nivel de cavidad oral un Burkitt primario, que se acompañó de hepatoesplenomegalia. Se pretendió describir la relación y el comportamiento de este tipo de linfoma con la hepatoesplenomegalia, así como la repercusión a nivel del sistema estomatognático, a nivel sistémico y el plan de tratamiento. Por el cuadro clínico e inmunológico del paciente estudiado, se planteó un pronóstico reservado por presentar un cuadro clínico infrecuente, en el que se observó Burkitt; tanto a nivel del sistema estomatognático como a nivel abdominal. Se hizo necesario realizar un diagnóstico oportuno y certero para iniciar el tratamiento a tiempo, se comenzó inmediatamente con tratamiento (AU).

ABSTRACT Burkitt lymphoma (BL) is a rare subtype of non-Hodgkin lymphoma, with high frequency in those patients with AIDS. Hepatosplenomegaly is a clinical sign of great importance for the timely diagnosis of some pathologies; cellular infiltration is found among the mechanisms of hepatosplenomegaly formation; it is caused by the migration of tumor cells. It emerges by inflammations due to the presence of infections by virus or bacteria which are very common in patients with AIDS. The authors present the case of a male patient, aged 4 years, with a positive HIV diagnosis, and the correspondent configuration of clinical criteria in C classification for AIDS, who developed a primary Burkitt lymphoma at the level of oral cavity We present the case of a 4-year-old male patient diagnosed with HIV positive, with the corresponding configuration of clinical criteria in classification C for AIDS; who developed a primary LB at the oral cavity level that was accompanied by hepatosplenomegaly. The authors pretended to describe the relation and behavior of this kind of lymphoma with hepatosplenomegaly, and also the repercussion at the stomatognathic level, at the systemic level and the treatment plan. Due to the clinical and immunological characteristics of the studied patient a reserved prognosis was given because of presenting infrequent clinical characteristics in which a Burkitt was observed both, at the stomatognathic and at the abdominal level. It was necessary to make an opportune and accurate diagnosis to begin the treatment on time (AU).

Doença de Still do adulto: um desafio diagnóstico / Adult-onset Still's disease: a diagnostic challenge

A doença de Still do adulto é uma rara condição inflamatória, cujo diagnóstico é um desafio, por se tratar de diagnóstico de exclusão, após vasta investigação. Manifesta-se com febre alta diária, amigdalite não supurativa, artrite, rash evanescente, leucocitose e hiperferritinemia. O presente caso demonstra a doença de Still do adulto e sua vasta investigação, motivando a realização de revisão bibliográfica sobre inovações na fisiopatologia, no diagnóstico e no tratamento.

Adult onset Still's disease is a rare inflammatory condition, the diagnosis of which is a challenge, because it is a diagnosis of exclusion, and demands extensive investigation. It manifests with high daily fever, nonsuppurative tonsillitis, arthritis, evanescent rash, leukocytosis, and hyperferritinemia. The present case de­monstrates adult-onset Still's disease and its extensive inves­tigation, motivating literature review on innovations of its pathophysiology, diagnosis, and treatment.

Acidemia propiónica: una causa sumamente rara de linfohistiocitosis hemofagocítica en un lactante / Propionic acidemia: an extremely rare cause of hemophagocytic lymphohistiocytosis in an infant

La linfohistiocitosis hemofagocítica (LHH) puede ser primaria (hereditaria) o secundaria a infecciones, tumores malignos, trastornos reumatológicos, síndromes de inmunodeficiencia y metabolopatías. Se informaron casos de intolerancia a la proteína lisinúrica, deficiencia de múltiples sulfatasas, galactosemia, enfermedad de Gaucher, síndrome de Pearson y galactosialidosis. No se sabe cómo se desencadena la LHH en las metabolopatías. Se diagnosticó LHH en un lactante de 2 meses con letargo, palidez, alimentación deficiente, hepatoesplenomegalia, fiebre y pancitopenia, y se instauró el protocolo HLH-2004. Se realizaron, en conjunto, análisis para detectar mutaciones genéticas y pruebas metabólicas; los resultados fueron negativos para las mutaciones genéticas de LHH primaria, pero se detectaron hiperamoniemia y concentración elevada de metilcitrato. Se diagnosticó acidemia propiónica. Aquí informamos sobre un caso de LHH secundaria a acidemia propiónica. Es posible la realización simultánea de pruebas de detección de trastornos metabólicos y de mutaciones genéticas para el diagnóstico temprano en los lactantes con LHH

Hemophagocytic lymphohystiocytosis (HLH) may be primary (inherited/familial) or secondary to infections, malignancies, rheumatologic disorders, immune deficiency syndromes and metabolic diseases. Cases including lysinuric protein intolerance, multiple sulfatase deficiency, galactosemia, Gaucher disease, Pearson syndrome, and galactosialidosis have previously been reported. It is unclear how the metabolites trigger HLH in metabolic diseases. A 2-month-old infant with lethargy, pallor, poor feeding, hepatosplenomegaly, fever and pancytopenia, was diagnosed with HLH and the HLH-2004 treatment protocol was initiated. Analysis for primary HLH gene mutations and metabolic screening tests were performed together; primary HLH gene mutations were negative, but hyperammonemia and elevated methyl citrate were detected. Propionic acidemia was diagnosed with tandem mass spectrometry in neonatal dried blood spot. We report this case of HLH secondary to propionic acidemia. Both metabolic disorder screening tests and gene mutation analysis may be performed simultaneously especially for early diagnosis in infants presenting with HLH.

Parvovirus B19: un nuevo patógeno emergente en pacientes con SIDA. Presentación de 3 casos / PARVOVIRUS B19: HUMAN PARVOVIRUS B19: A NEW EMERGING DISEASE IN PATIENTS WITH AIDS. REPORT OF THREE PATIENTS

El Parvovirus humano B19 puede presentarse con una amplia variedad de manifestaciones clínicas, con distinto compromiso y evolución según el huésped afectado. En pacientes inmunocomprometidos se asocia con cuadros hematológicos prolongados y graves. Se describen 3 casos de pacientes con antecedentes de infección por virus de la inmunodeficiencia humana (VIH) que desarrollaron infecciones agudas por Parvovirus B19 que se presentaron con síndrome febril, citopenias (anemia, plaquetopenia y disminución de reticulocitos) y esplenomegalia. En todos los casos el diagnóstico se confirmó por la serología específica. Todos recibieron tratamiento con inmunoglobulina humana (Ig) intravenosa (IV); 2 pacientes tuvieron buena respuesta clínica y mejoría de citopenias mientras que el restante falleció. La infección por Parvovirus B19 debe incluirse en el diagnóstico diferencial de los pacientes VIH positivos con fiebre y citopenias, principalmente anemia persistente y compromiso linfoganglionar con esplenomegalia

Human Parvovirus B 19 is presented as a variety of diseases with different compromise and evolution according to the affected host. In immunocompromised patients the acute infection due to Parvovirus B19 is associated with severe and prolonged hematological clinical pictures. Three cases of patients with a history of infection with human immunodeficiency virus (HIV) co-infected with Human Parvovirus B19 are presented. All of they presented with febrile syndrome, cytopenias (anemia, platelet count and reticulocyte reduction) and lymphadenopathy and splenomegaly. In all cases the diagnosis was confirmed by serology. All were treated with intravenous human immunoglobulin (IVI G; 2 patients had good clinical response and better cytopenias while the other died. We consider thinking about Parvovirus B19 infection in HIV immunocompromised hosts with haematological involvement, mainly persistent anemia and lymph node involvement with splenomegaly