El trasplante de progenitores hematopoyéticos y la terapia celular: el valor agregado en el tratamiento del paciente hemato-oncológico / Hematopoietic stems cell transplantation and cell therapy: added value in the treatment of hematopoietic patients

El trasplante de progenitores hematopoyéticos se ha convertido en una opción curativa y de sobrevida libre de enfermedad que las alcanzadas con otras modalidades terapéuticas en ciertas patologías congénitas o tumorales. A inicios del año 2006 se diseñó el proyecto para la creación de la Unidad de Trasplante de progenitores hematopoyéticos del Hospital de SOLCA ­Guayaquil. En Junio de 2006, la Unidad de Trasplante de Médula Ósea (UTMO) inicia los primeros trasplantes, uno autólogo y otro alogénico, y a partir de entonces se han realizado 375 trasplantes de progenitores hematopoyéticos, de los cuales 166 han sido de tipo alogénicos, 147 con progenitores hematopoyéticos obtenidos desde la sangre periférica o médula ósea propiamente dicha y 19 con células obtenidas desde la sangre de cordón umbilical, así como 209 trasplantes de tipo autólogo. Actualmentese ha diseñado un proyecto de ampliación que contempla una infraestructura con 20 habitaciones para hospitalización y un área para manipulación celular más amplia con equipamiento complementario, lo cual permitirá incrementar la cartera de servicios, a saber: la opción del trasplante alogénico de tipo haploidéntico y ciertos procedimientos de inmunoterapia adoptiva con células T

Hematopoietic stem cell transplantation has become a curative and disease-free survival option than those achieved with other therapeutic modalities in specific congenital or tumor pathologies. At the beginning of 2006, the project for the creation of the Hematopoietic Stem Cell Transplant Unit of the Hospital de SOLCA ­ Guayaquil was designed. In June 2006, the Bone Marrow Transplant Unit (UTMO) began the first transplants, one autologous and the other allogeneic. Since then, 375 hematopoietic progenitor transplants have been performed, of which 166 have been allogeneic, 147 with hematopoietic progenitors obtained from peripheral blood or bone marrow itself, and 19 with cells obtained from umbilical cord blood, as well as 209 autologous transplants. An expansion project has been designed that includes an infrastructure with 20 rooms for hospitalization and a larger area for cell manipulation with complementary equipment, which will make it possible to increase the portfolio of services, namely: the option of haploidentical allogeneic transplantation and specific adoptive T-cell immunotherapy procedures.

Effectiveness of autologous hematopoietic stem cell transplantation in the treatment of high-risk neuroblastoma in children: a single-center clinical study / 中国当代儿科杂志

OBJECTIVES@#To investigate the effectiveness of high-dose chemotherapy combined with autologous hematopoietic stem cell transplantation (ASCT) in the treatment of children with high-risk neuroblastoma (NB).@*METHODS@#A retrospective analysis was performed on 29 children with high-risk NB who were admitted to Shanghai Children's Hospital and were treated with high-dose chemotherapy combined with ASCT from January 2013 to December 2021, and their clinical features and prognosis were analyzed.@*RESULTS@#Among the 29 children treated by high-dose chemotherapy combined with ASCT, there were 18 boys (62%) and 11 girls (38%), with a median age of onset of 36 (27, 59) months. According to the International Neuroblastoma Staging System, 6 children (21%) had stage III NB and 23 children (79%) had stage IV NB, and the common metastatic sites at initial diagnosis were bone in 22 children (76%), bone marrow in 21 children (72%), and intracalvarium in 4 children (14%). All 29 children achieved reconstruction of hematopoietic function after ASCT. After being followed up for a median time of 25 (17, 45) months, 21 children (72%) had continuous complete remission and 8 (28%) experienced recurrence. The 3-year overall survival rate and event-free survival rate were 68.9%±16.1% and 61.4%±14.4%, respectively. Presence of bone marrow metastasis, neuron-specific enolase ≥370 ng/mL and positive bone marrow immunophenotyping might reduce the 3-year event-free survival rate (P<0.05).@*CONCLUSIONS@#Children with high-risk NB who have bone marrow metastasis at initial diagnosis tend to have a poor prognosis. ASCT combined with high-dose chemotherapy can effectively improve the prognosis of children with NB with a favorable safety profile.

Utilidad diagnóstica de la biopsia de médula ósea en pediatría / Diagnostic utility of biopsy of bone marrow in Pediatry

La biopsia de médula ósea (BMO) es un procedimiento invasivo que ha ganado campo en la práctica médica ya que se realiza para el diagnóstico, estadificación y seguimiento de enfermedades hematológicas y no hematológicas, benignas o neoplásicas, entre otros. El objetivo fue establecer el rol de la BMO en las hemopatías en Pediatría en el ION SOLCA Guayaquil- Ecuador. Se utilizó un estudio descriptivo retrospectivo donde se incluyeron a todos los pacientes pediátricos menores de 18 años de edad que se sometieron a BMO, desde Julio de 2014 a Julio de 2017 en el hospital. De las 1511 BMO realizadas en el periodo de estudio, 869 correspondieron a biopsias pediátricas, de las cuales el 57,08% fueron varones. La edad mediana fue 5 (RIC: 3-10) años. El tamaño promedio de la BMO fue de 0,74 (0,1-2,5) cm, con una celularidad media de 20% (4-100%). El motivo de consulta más frecuente fue la fiebre (22,67%). En el hemograma se detectó más frecuentemente bicitopenia (44,65%) y pancitopenia (24,63%). La Leucemia Linfoblástica Aguda (LLA) fue la enfermedad hematológica maligna más comúnmente encontrada (19,59%). Solo un 0,12% correspondió al grupo de Síndromes Mielodisplásicos (SMD), mientras que un 0,23% fueron Neoplasias Mieloproliferativas (NMP). El 26,93% de las biopsias no fueron aptas para el diagnóstico, el 48,45% se encontraron libres de enfermedad de base. La enfermedad oncohematológica pediátrica más frecuente es la LLA, mientras que los SMD y las NMP son infrecuentes. El rol del patólogo y de la BMO es fundamental en el diagnóstico de las enfermedades hematológicas, siempre en integración con la clínica y los exámenes complementarios.

Bone marrow biopsy (BMB) is an invasive procedure that has gained ground in medical practice since it is performed for the diagnosis, staging and monitoring of hematological and non-hematological, benign or neoplastic diseases, among others. This work aims to establish the role of the BMB in hematological diseases in Pediatrics in the ION SOLCA Guayaquil ­ Ecuador. A non-experimental design study, descriptive type was used, that included all pediatric patients under 18 years of age who submitted a BMB, from July 2014 to July 2017 in the hospital. Of the 1511 BMB performed in the study period, 869 corresponded to pediatric biopsies, of which 57.08% belong to male patients. The median age was 5 (interquartile range: 3 - 10) years. The average size of the BMB was 0.74 (0.1 - 2.5) cm, with an average cellularity of 20% (4 - 100%). The most frequent reason for consultation was fever (22.67%). In the complete blood count, bicytopenia (44.65%) and pancytopenia (24.63%) were detected most commonly. Acute Lymphoblastic Leukemia (ALL) was the most frequent malignant hematologic disease (19.59%). Only 0.12% corresponded to the group of Myelodysplastic Syndromes (MDS), while 0.23% were Myeloproliferative Neoplasms (MPN). 26.93% of the biopsies were not apt for diagnosis, 48.45% were free of base disease. The most cfrequent pediatric onco-hematologic disease is ALL, while MDS and MPN are infrequent. The role of the pathologist and the BMP is fundamental in the diagnosis of hematological diseases, always in integration with the clinic and complementary examinations.

Diagnostic outcomes of bone marrow aspirate and trephine biopsies performed at a hospital in KwaZulu-Natal, South Africa

Background: Bone marrow aspiration and trephine biopsy (BMAT) are widely performed in adults to evaluate haematological and malignant conditions. However, the diagnostic yield from the procedure in unselected patients in the South African public sector has not previously been described. Objectives: We identified the main indications and most common diagnoses encountered for BMAT and described the demographic and blood profiles of patients, including HIV-positive patients, who had undergone the procedure at a tertiary hospital in KwaZulu-Natal.Methods: We retrospectively reviewed laboratory data from January 2016 to December 2016n for all patients aged ≥ 13 years who underwent the procedure and stratified findings by demographic data.Results: Among 120 BMAT biopsies studied, 80 (67%) cases were performed to evaluate suspected malignancy and a further 40 (33%) cases for non-malignant indications. The main indications for bone marrow examination were: cytopenias 38 (32%), lymphoma 35 (29%), leukaemia 21 (18%), and multiple myeloma 17 (14%). BMAT results revealed that 60 cases (50%) were malignant in origin, 30 cases (25%) were non-malignant and 30 cases (25%) were classified as normal. The common diagnoses were: leukaemia, 24 (20%); multiple myeloma, 16 (13%) and lymphoma, 13 (11%). Cases aged ≥ 50 years were more likely to have a malignant diagnosis (odds ratio: 5.8 (95% confidence interval: 2.2­17.1)bp-value < 0.001). Conclusion: The diagnostic yield of BMAT was high, with significant abnormalities detected in three quarters of cases. Haematological malignancy was the more common diagnosis. Increasing age was associated with an increase in reporting of haematology malignancy

Consistency Analysis of Gene Mutation Sites of Bone Marrow Tumor DNA and Circulating Tumor DNA in Patients with Myelodysplastic Syndrome / 中国实验血液学杂志

OBJECTIVE@#To analyze the consistency of gene mutation sites between bone marrow DNA (BM-tDNA) and perepheral plasma circulating tumor DNA (PP-ctDNA) in patients with myelodysplastic syndrome (MDS).@*METHODS@#The simultaneous sampled BM and PP from 19 patients (SBPP) was detected by NGS-127 gene panel, and the consistency of VAF between BM-tDNA and PP-ctDNA was analyzed. The peripheral blood cell tumor DNA (PC-tDNA) of 5 out of 19 patients was detected randomly, the consistency of VAF among PC-tDNA，BM-tDNA and PP-ctDNA was analyzed. The non simultaneous sampled BM and PP from 13 patients (NBPP) was detected, and the difference value of VAF between BM-tDNA and PP-ctDNA in SBPP and NBPP was analyzed.@*RESULTS@#The average concentration of PP-ctDNA in SBPP was 0.59 ng/µl and 0.604 ng/µl in NBPP. The median concentration of PP-ctDNA in SBPP and NBPP was 0.330 ng/µl and 0.338 ng/µl, respectively. The study showed a good consistency of VAF between BM-tDNA and PP-ctDNA in the SBPP (R=0.9693, P<0.05), and the consistency of VAF between BM-tDNA and PP-ctDNA in single base replacement (SNP) sites (R=0.9712) was better than that in insertion deletion (Indel) sites (R=0.6813). The results showed a good consistency of VAF between BM-tDNA and PP-ctDNA both in 12 patients before treatment (R=0.9325, P<0.05) and 5 patients (R=0.9875, P<0.05) after treatment. The results also showed that the VAF of PC-tDNA had a good consistency with the VAF of BM-tDNA (R=0.8783) and PP-ctDNA (R=0.8783) (P<0.05). The difference value of VAF between BM-tDNA and PP-ctDNA in SBPP was significantly lower than that in NBPP (P<0.05).@*CONCLUSION@#PP can replace BM as a biological sample for genes mutation detection in patients with MDS due to its stable concentration, high degree of consistency with bone marrow in clinical significant mutation sites and easy collection.

Aplicando la normativa protectora de los consumidores por deficiencias en advertencias de riesgo en el prospecto de medicamentos / Applying consumer protection rules for deficient risk warnings in medicine's package insert

El Tribunal de Apelaciones en lo Civil de 2º Turno, confirma la sentencia de primera instancia que, en aplicación de la normativa protectora de los consumidores en el ámbito del Derecho a la Salud, condenó al laboratorio farmacéutico fabricante de un medicamento con el que fue tratado un paciente para el acné, y que posteriormente desarrolló una aplasia medular. Aún sin quedar comprobada la causalidad entre la ingesta del medicamento y el daño sufrido por el paciente, la falta de advertencia en el prospecto de que se habían dado una serie de casos que se habrían asociado a la enfermedad aunque no comprobados, hace incurrir al fabricante en responsabilidad objetiva

The Court of Appeals of the second turn, confirmed the first instance sentence, which, through the application of the consumer protection rules to the field of Health Law, condemned a pharmaceutical company that manufactures a medicine used to treat a patient with acne who developed aplastic anemia. Despite the relationship of causality between the intake of the medicine and the damage suffered by the patient was not demonstrated, the lack of warning in the package insert about other cases, also not proven, that might be associated with this disease, causes the pharmaceutical laboratory incurs in objective responsibility.

T-cell lymphoma with rhabdomyolysis: case report and literature review

Rhabdomyolysis refers to the destruction or disintegration of striated muscles. This syndrome is characterized by muscle breakdown and necrosis, resulting in the leakage of intracellular muscle constituents into the circulation and extracellular fluid. We report a rare case of rhabdomyolysis complicating multi-organ failure caused by T-cell lymphoma in a 32-year-old woman. The final diagnosis was rhabdomyolysis caused by peripheral T-cell lymphoma based on bone marrow aspirate and biopsy.

Clinical Analysis of Small Cell Lung Cancer with Bone Marrow Metastases / 中国肺癌杂志

BACKGROUND@#Small cell lung cancer (SCLC) is highly malignant and prone to bone marrow metastasis in early stage, but its related reports are limited. This study analyzed the clinical feature, laboratory examination, treatment and prognosis of SCLC patients with bone marrow metastasis.@*METHODS@#The clinical data of 26 SCLC patients with bone marrow metastasis were analyzed retrospectively. Prognostic factors were evaluated.@*RESULTS@#The median age of 26 patients was 57 years and the median time from diagnosis of SCLC to confirmed bone marrow metastases was 8 d. Most patients (96.2%) were accompanied by other organ metastases. The most common laboratory abnormalities were elevated lactate dehydrogenase in 19 cases (73.1%), thrombocytopenia and elevated alkaline phosphatase respectively in 11 cases (42.3%) and anemia in 7 cases (26.9%). Twenty patients had received chemotherapy and the remaining 6 patients had not. Of this group, 16 patients received at least 2 cycles of chemotherapy after the diagnosis of bone marrow metastasis. The median survival time was 15.7 wk (0.1 wk-82.9 wk) after diagnosis of bone marrow metastasis. The survival of patients with chemotherapy was significantly better than that of those without chemotherapy (χ²=33.768, P<0.001). Multivariate analysis showed that no chemotherapy was independent poor prognostic factors (P<0.05).@*CONCLUSIONS@#The SCLC patients with bone marrow metastasis have short survival, whereas chemotherapy can extend the survival of patients.

Fibrobroncoscopía en pacientes onco-hematológicoscon infiltrados pulmonares, estudio transversal / Fibrobronchoscopy in onco-hematological patients with pulmonary infiltrates, cross-sectional study

Introducción: Las enfermedades infecciosas y masas pulmonares son una causa importante de mortalidad en los pacientes onco-hematológicos. El objetivo del presente estudio fue determinar la sensibilidad y especificidad de la fibrobroncoscopía (FBC) en el diagnóstico temprano de pacientes hemato-oncológicos. Métodos: El presente estudio descriptivo transversal se realizó en pacientes onco-hematológicos con hallazgos anormales en imágenes de tórax que fueron sometidos a FBC en el Instituto Oncológico de Solca-Guayaquil entre el periodo enero 2014 -diciembre 2016. Resultados: Ingresaron al estudio 98 pacientes: 54 mujeres (55.1%), de 61 ±18 años, 39 (39.8 %) con tumores sólidos, 76 (77.6 %) con síntomas respiratorios, 88 (89.8 %) con alta sospecha de lesión maligna. La sensibilidad del diagnóstico con líquido bronquial fue del 62.5 %; con cepillado, 88 % y del esputo post FBC fue de 14.3 %. La especificidad del diagnóstico con líquido bronquial fue del 89.7 %; con cepillado, 73.9 % y del esputo post FBC fue de 93.3 %. Conclusiones: En el presente estudio existe mayor sensibilidad con el cepillado bronquial comparativamente al líquido bronquial y el esputo post FBC para el diagnóstico de lesiones malignas

Introduction:Infectious diseases and lung masses are an important cause of mortality in onco-hematological patients. The aim of this study was to determine the sensitivity and specificity of Fiber Optic Bronchoscopy (FOB) in the early diagnosis of haemato-oncological patients. Methods:The present descriptive cross-sectional study was performed in onco-hematological patients with abnormal findings in chest images that were submitted to BCF in the Oncology Institute of Solca-Guayaquil between the period January 2014 to December 2016. Results: 98 patients, 54 women (55.1 %), 61 ± 18 years old, 39 (39.8 %) with solid tumors, 76 (77.6 %) with respiratory symptoms, 88 (89.8%) with high suspicion of malignant injury, entered the study. The sensitivity of the diagnosis with bronchial fluid was 62.5 %, with brushing 88 % and sputum post FOB was 14.3 %. The specificity of the diagnosis with Bronchial fluid was 89.7 %, with Brush 73.9 % and sputum post FOB was 93.3 %. Conclusions: In the present study there is greater sensitivity with Bronchial Brush comparatively to bronchial fluid and sputum post FOB.

Clinical Significance of Persistent Tumor in Bone Marrow during Treatment of High-risk Neuroblastoma

The records of 63 high-risk neuroblastoma patients with bone marrow (BM) tumors at diagnosis were retrospectively reviewed. All patients received nine cycles of induction chemotherapy followed by tandem high-dose chemotherapy and autologous stem cell transplantation (HDCT/auto-SCT). Follow-up BM examination was performed every three cycles during induction chemotherapy and every three months for one year after the second HDCT/auto-SCT. BM tumor cells persisted in 48.4%, 37.7%, 23.3%, and 20.4% of patients after three, six, and nine cycles of induction chemotherapy and three months after the second HDCT/auto-SCT, respectively. There was no difference in progression-free survival (PFS) rate between patients with persistent BM tumor and those without during the induction treatment. However, after tandem HDCT/auto-SCT, the PFS rate was worse in patients with persistent BM tumor than in those without (probability of 5-yr PFS 14.7% +/- 13.4% vs. 64.2% +/- 8.3%, P = 0.009). Persistent BM tumor during induction treatment is not associated with a worse prognosis when intensive tandem HDCT/auto-SCT is given as consolidation treatment. However, persistent BM tumor after tandem HDCT/auto-SCT is associated with a worse prognosis. Therefore, further treatment might be needed in patients with persistent BM tumor after tandem HDCT/auto-SCT.

Progress of Study on Cytokines in Myeloproliferative Neoplasms / 中国实验血液学杂志

The clonal blood disorder, such as polycythemia vera, essential thrombocythemia and primary myelofibrosis belong to the BCR-ABL1-negative myeloproliferative neoplasms(MPN) and are specified by increased production of terminally differentiated myeloid cells. Abnormal expression and activities of a number of proinflammatory cytokines are associated with MPN, in which immune dysregulation is pronounced as evidenced by the dysregulation of several immune and inflammation genes. It is becoming increasingly clear that the dysregulation of cytokine levels contributes to the pathophysiology of MPN and they are prognostic indicators. In this review, the role of cytokines in the pathogenesis of MPN, the clinical relevance of cytokines with MPN, current therapies and the combination with the new treatments targeting cytokines are summarized.

Relationship between Calreticulin Gene Mutation and JAK2/MPL Negative Myeloproliferative Neoplasms / 中国实验血液学杂志

In 2008, WHO made the JAK2V617F gene mutation as one of the specific molecular diagnostic markers of BCR/ABL-negative myeloproliferative neoplasms (MPN). In 2013 two research teams demonstrated that whole genome sequencing technology (WGS) was used to detect calreticulin gene mutation in essential thrombocythaemia (ET) and primary myelofibrosis (PMF) patients with JAK2V617F⁻ and MPL⁻ mutations. In this review, the relationship of CALR gene mutation with MPN is briefly summarized.

Recaída extramedular de leucemia linfocítica aguda: reporte de un caso / Extramedullary relapse of acute linfoblastic leukemia: report of a case

El síndrome de vena cava superior (SVCS), considerado una emergencia, requiere tratamiento inmediato, por lo que el diagnóstico etiológico es esencial antes de decidir una conducta terapéutica. El manejo del SVCS consiste en el alivio de los síntomas y de la enfermedad subyacente. Los tratamientos tienen el objetivo de restituir el flujo sanguíneo. Se presenta un paciente de 5 años de edad, masculino, con antecedente de LLA tipo B. Su estado oncohematológico era remisión total y, en febrero de 2013, consultó por síndrome de dificultad respiratoria (SDR) de rápida evolución y edema facial, que progresó en 24 h. Se realizó angio TC de tórax y vasos de cuello, que evidenció tejido pseudonodular que comprime VCS. Se realiza biopsia endocavitaria de urgencia, que informa infiltración difusa Knfroproliferativa. Tratamiento quimioterápico, con buena evolución y egreso hospitalario. El SVCS es una emergencia oncológica que requiere diagnóstico oportuno y tratamiento inmediato a fin de mejorar los resultados.

The superior vena cava syndrome (SVCS) is considered an emergency and requires immediate treatment; therefore, the etiologic diagnosis is essential before deciding on its implementation. The management of SVCS consists on the relief of symptoms and treatment of the underlying disease, aiming to restore the blood flow. We present a 5 years old boy with a history of B-cell ALL. His oncologic state was that of complete remission. In February 2013 he consulted for respiratory distress syndrome (RDS) of rapid evolution, and facial edema which progressed within 24 hours. CT chest and neck angiography was performed, showing pseudo nodular tissue compressing the SVC. Emergency endocavitary biopsy reported diffuse lymphoproliferative infiltration Chemotherapy is administered, with good results and hospital discharge. The SVCS is an oncologic emergency that requires prompt diagnosis and immediate treatment in order to improve results.

Non-haematopoietic malignancies metastasing to the bone marrow: A 5 year record-based descriptive study from a tertiary care centre in South India.

INTRODUCTION: Bone marrow involvement by a non-haematological malignancy gives an opportunity to identify the lodgement, invasion of metastatic cells and the response of the host to the tumor cells. The study was undertaken to assess the involvement of bone marrow with non-haematopoietic malignancies and its significance in establishing primary diagnosis in clinically unsuspected cases. MATERIALS AND METHODS: This was a descriptive study which included record review of the departmental archives for the last five years (January 2007 to December 2011). Eighty four cases were studied; which included clinically diagnosed non-haematological malignancy for staging or symptomatic cytopenias/bony lesions (group 1, n = 63), clinically suspected bone marrow metastasis of unknown primary malignancy due to symptomatic cytopenias/bony lesions (group 2, n = 07) and clinically unsuspected malignancy with incidentally detected bone marrow metastasis (group 3, n = 14). RESULTS: Bone marrow metastases of solid tumors were identified in 23 cases (27.3%) which included 9 cases from group 1, 14 cases from group 3 and nil in group 2. Of the 14 cases in group 3, in 12 cases a definitive diagnosis could be made by correlating clinicoradiological findings with morphology and immunohistochemistry. The most common tumor in pediatric cases were neuroblastoma and Ewing’s sarcoma (40%) and in adult’s adenocarcinoma of gastrointestinal tract (30.7%) was the commonest. CONCLUSION: Bone marrow metastasis can masquerade as a primary haematopoietic disorder; however its detection has both therapeutic and prognostic significance. Immunohistochemistry is a useful adjunct to morphology in reaching a definitive diagnosis.

Radionuclide treatment with 153Sm-EDTMP is effective for the palliation of bone pain in the context of extensive bone marrow metastases: a case report

Radionuclide therapy is widely used as an effective modality in the management of bone pain. The main indication for this treatment is symptomatic bone metastases, confirmed by bone scintigraphy. We present a case of small cell lung cancer [SCLC] stage T[4]N[2]M[1b], with a good metabolic response to systemic therapy and radiotherapy of the primary tumor and locoregional disease, which became metabolically less active and remarkably smaller in size [reduction to 1/6 of the original volume]. In spite of the good overall response, the patient developed a syndrome with severe bone pain and had progression in the bone marrow metastases, confirmed by [18]F-FDG PET/CT. The patient received [153]Sm-EDTMP treatment with a good clinical response. However, in the whole body bone scan with the therapeutic dose, there was no visual evidence of bone metastasis. Retrospectively, by drawing the region of interest, it was possible to identify one metastatic site. The possible mechanisms of the efficacy of this treatment modality, in this specific setting, are also discussed

High resolution melting analysis for detecting of JAK2V617F mutation in patients with myeloproliferative neoplasms / 中国实验血液学杂志

This study was purposed to investigate the feasibility of high resolution melting (HRM) in the detection of JAK2V617F mutation in patients with myeloproliferative neoplasm (MPN). The 29 marrow samples randomly selected from patients with clinically diagnosed MPN from January 2008 to January 2011 were detected by HRM method. The results of HRM analysis were compared with that detected by allele specific polymerase chain reaction (AS-PCR) and DNA direct sequencing. The results showed that the JAK2V617F mutations were detected in 11 (37.9%, 11/29) cases by HRM, and its comparability with the direct sequencing result was 100%. While the consistency of AS-PCR with the direct sequencing was moderate (Kappa = 0.179, P = 0.316). It is concluded that the HRM analysis may be an optimal method for clinical screening of JAK2V617F mutation due to its simplicity and promptness with a high specificity.

Clinical and cytomorphological features of bone marrow metastasis of non-hematological malignant carcinoma / 南方医科大学学报

<p><b>OBJECTIVE</b>To analyze the clinical manifestations and hematologic parameters and observe the cytomorphological features of metastatic tumors in the bone marrow originating from different primary sites.</p><p><b>METHODS</b>The clinical data of 77 patients with bone marrow metasta tumors admitted between 2009 and 2014 between 2009 and 2014 in General Hospital of PLA were studied retrospectively to analyze the indications of laboratory examinations (hematological laboratory tests, tumor markers, peripheral blood films, and bone marrow aspirates).</p><p><b>RESULTS</b>Of the 77 patients analyzed, 64.9% were over 50 years of age. The most common clinical characteristics were bone pain (65%), anemia with thrombocytopenia (63.6%) and leukoerythroblastic reaction (61%). The hematological abnormalities included elevation of ESR, ALP, LDH, tumor markers, and hypoproteinemia. Cytological examination of bone marrow aspiration samples revealed different morphological characteristics of the metastatic cells from different primary sites; in most of the cases, scattered or clustered metastatic cells and degenerative tumor cells were found on the edge of the bone marrow smears.</p><p><b>CONCLUSION</b>Detection of the primary tumor site is difficult by cytological examination of bone marrow aspiration samples, but the cytological findings can be of value in the diagnosis of neuroblastoma, small cell lung cancer and gastric cancer (signet ring cell carcinoma). A definite diagnosis of bone marrow metastatic tumor relies on a combined evaluation of the disease history, clinical symptoms and laboratory findings.</p>

Primary bone marrow B-cell non-hodgkin's lymphoma successfully treated with R-CHOP / Linfoma primario no hodgkin de células B en la médula ósea tratado con R-CHOP

Primary isolated bone marrow disease as a presenting feature of lymphoma is very rare. We describe the case of a Chinese with isolated bone marrow small B-cell lymphoma as a first manifestation. A 55-year old woman was admitted to our hospital with fever. Her peripheral blood smear and laboratory findings were suggestive of bicytopenia. Bone marrow specimen showed diffusely distributed small-sized lymphocytes. Combined with immunophenotypic and chromosomal analysis, a diagnosis of primary bone marrow B-cell non-Hodgkin's lymphoma was made. The patient was treated with R-CHOP (rituximab and cyclophosphamide, epirubicin, vindesine, and prednisone) regimen for six cycles. She had complete remission and is still alive without relapse. We concluded that primary bone marrow mature small B-cell lymphoma is a rare but distinctive subtype of lymphoma. The prognosis for this entity is poor but rituximab-based treatment is promising for improving its outcomes.

La enfermedad aislada primaria de la médula ósea como rasgo de manifestación del linfoma es muy rara. Describimos el caso de una paciente china con linfoma aislado de células B pequeñas en la médula como una primera manifestación. Se trata de una mujer de 55 años que ingresara a nuestro hospital con fiebre. El frotis de sangre periférica y los hallazgos de laboratorio apuntaban a una bicitopenia. El espécimen de la médula ósea mostró la presencia de linfocitos de pequeño tamaño distribuidos de manera difusa. En combinación con un análisis inmunofenotípico y un análisis cromosómico, se realizó un diagnóstico de linfoma primario no Hodgkin de células B de la médula ósea. La paciente recibió como tratamiento un régimen de seis ciclos de R-CHOP (rituximab, ciclofosfamida, epirubicina, vindesina, y prednisona). Esto le permitió alcanzar una remisión completa, y todavía está viva sin que se haya producido recaída alguna. Concluimos que el linfoma primario de células B pequeñas maduras de la médula ósea es un subtipo raro pero particular de linfoma. La prognosis para esta entidad es pobre, pero el tratamiento a base de rituximab re-basado resulta promisorio en cuanto a mejorar su evolución clínica.