Research Progress on Gene Mutation and CHIP in Pathogenesis of MDS --Review / 中国实验血液学杂志

With the development of molecular biology techniques, the people's understanding of myelodysplastic syndromes (MDS) has greatly improved, a heterogeneous hematopoietic pre-malignant disorder of the stem cells. Gene mutations include RNA splicing, DNA methylation, chromosome modification, transcription factors, signal transduction kinases, RAS pathways, cohesion complexes, DNA repair, etc. Gene mutation is the determinant of diagnostic typing and therapeutic efficacy of MDS. The new concepts of CHIP and ICUS have aroused people's attention to the elderly patients with clonal hematopoiesis and non-clonal cytopenia but without MDS characteristics, who have the possibility of high-risk transformation to MDS and leukemia. In order to better understand the pathogenesis of MDS, the significance of gene mutations, CHIP and ICUS in the diagnosis and prognosis of MDS were reviewed in this paper.

Pioderma gangrenoso ampollar como forma de presentación de leucemia mieloide agudo: informe de un caso / Acute myeloid leukemia presented in the form of bullous pyoderma gangrenosum: a case report

El pioderma gangrenoso ampollar es una variedad infrecuente de pioderma gangrenoso, que se asocia en el 50-70% de los casos con trastornos oncohematológicos. Se comunica el caso de una paciente de 59 años, que consultó por fiebre y ampollas purpúricas de rápida progresión, con compromiso cutáneo mucoso. Con sospecha de una enfermedad neutrofílica, ampollar, o infección por gérmenes oportunistas, se realizó biopsia de piel para estudio histopatológico, inmunofluorescencia directa y cultivo. Los cultivos y la inmunofluorescencia directa fueron negativos, y la anatomía patológica reveló un denso infiltrado inflamatorio con predominio neutrofílico en dermis. Ante el diagnóstico de pioderma gangrenoso ampollar, se realizó una punción-aspiración de médula ósea cuyo resultado fue compatible con leucemia mieloide aguda. Se instauró tratamiento con corticosteroides sistémicos, a pesar de lo cual la paciente evolucionó desfavorablemente y falleció a los 15 días de su ingreso hospitalario. Este caso ilustra la asociación de esta enfermedad cutánea con trastornos oncohematológicos y el mal pronóstico que esto implica a corto plazo. (AU)

Bullous pyoderma gangrenosum is an infrequent type of pyoderma gangrenosum, associated with onco hematological diseases in 50-70% of cases. We present the case of a 59-year-old patient with fever and mucocutaneous hemorrhagic bullous of rapid progression. A biopsy for histopathology, direct immunofluorescence (DIF) and skin culture was made, considering the possibility of neutrophilic dermatoses, bullous dermatosis or an opportunistic infection. The results of both the culture and the DIF were negative. The histopathological examination of the specimen revealed a dense dermal polymorphic infiltrate composed primarily of neutrophils. Considering bullous pyoderma gangrenosum as a potential diagnosis, a bone-marrow biopsy was performed. This study revealed an acute myeloid leukemia. Although systemic corticosteroid therapy was begun, the patient presented an unfavorable evolution that led to her death 15 days after her admission at the hospital. This case shows the association between bullous pyoderma gangrenosum and onco hematological diseases. In addition, it highlights the poor prognosis related to these diseases in the short term. (AU)

Myelodysplastic syndrome in a 30-year-old man with coronavirus disease 2019 (COVID-19): a diagnostic challenge

Background Myelodysplastic syndromes (MDS) mainly occur in the elderly but can rarely affect younger individuals too. The correct diagnosis relies on careful morphologic evaluation, cytogenetic/molecular results, and excluding reactive conditions mimicking MDS. We present the clinical, pathologic, cytogenetic, and molecular features of a case of MDS with excess blasts-2 (MDS-EB-2) in a 30-year-old male who was found to have pancytopenia during his hospitalization for coronavirus disease 2019 (COVID-19) and discuss the diagnostic challenges of MDS in patients with COVID-19. Case presentation A 30-year-old man presented to an outside hospital with fever, chills, weakness, coughing spells, dizziness and shortness of breath and was diagnosed with bilateral pneumonia due to COVID-19. At the outside hospital, he was found to be pancytopenic, and a subsequent bone marrow aspiration and biopsy raised concern for a COVID-19 induced hemophagocytic lymphohistiocytosis. In addition, MDS could not be ruled out. The patient was thus referred to our institute for further management. The patient's peripheral blood showed pancytopenia with occasional dysplastic neutrophils and a few teardrop cells. Given the diagnostic uncertainty, a bone marrow aspiration and a biopsy were repeated revealing a hypercellular bone marrow with erythroid hyperplasia, megakaryocytic hyperplasia, trilineage dysplasia, increased blasts (13%), many ring sideroblasts, and mild to moderate myelofibrosis, consistent with MDS-EB-2. Chromosomal analysis revealed isochromosome 14. Next generation sequencing demonstrated SF3B1 K700E mutation. Discussion and conclusion The diagnosis of MDS can be challenging, particularly in young patients. Cytopenia and myelodysplastic features have been reported in COVID-19 patients, making the diagnosis of MDS more elusive. A careful pathologic examination of the bone marrow with ancillary studies including flow cytometry, immunohistochemistry, and cytogenetic and molecular studies in combination with a thorough clinical evaluation, leads to the accurate diagnosis.

Myeloid sarcoma: an uncommon presentation of myeloid neoplasms; a case series of 4 rare cases reported in a tertiary care institute

Myeloid sarcoma (MS) is a rare extramedullary neoplasm of myeloid cells, which can arise before, concurrently with, or following hematolymphoid malignancies. We report 04 such cases of MS, diagnosed in this institute over a period of 6 years, during various phases of their respective myeloid neoplasms/leukemias. These cases include MS occurring as a relapse of AML (Case 1), MS occurring as an initial presentation of CML (Case 2), MS occurring during ongoing chemotherapy in APML (Case 3), and MS presenting as a progression of MDS to AML (Case 4). In the absence of relevant clinical history and unemployment of appropriate immunohistochemical (IHC) studies, these cases have a high risk of being frequently misdiagnosed either as Non-Hodgkin's Lymphoma (NHL) or small round cell tumors or undifferentiated carcinomas, which may further delay their management, making an already bad prognosis worse. This case series has been designed to throw light on the varied presentation of MS and the lineage differentiation of its neoplastic cells through the application of relevant IHC markers along with their clinical correlation.

Analysis of genetic and clinical characteristics of nine cases of myelodysplastic syndrome with near tetraploid/tetraploidy karyotype / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic and clinical characteristics of near-tetraploidy/tetraploidy karyotype (NT/T) in patients with myelodysplastic syndrome (MDS).@*METHODS@#Cytogenetic findings of 1576 inpatients with primary MDS were retrospective analyzed, among which 9 were diagnosed with NT/T. Clinical data including gender, age, morphology, genetic feature and prognosis were analyzed.@*RESULTS@#The prevalence of MDS patients with NT/T (NT/T-MDS) among all cases was 0.57%. Karyotyping analysis suggested that eight MDS patients had sole NT/T, while the remainder one had a complex karyotype. In addition to the typical morphology of MDS, NT/T-MDS had unique morphology including huge blast, double-nuclear cell and irregular nuclear membrane. One NT/T-MDS patient gave up therapy, and the remaining eight underwent the first course of treatment, albeit with poor prognosis. Only one patient had complete remission, one had partial remission, three had no remission; and three had converted to acute myeloid leukemia.@*CONCLUSION@#NT/T-MDS is rare and has unique morphology. Generally, NT/T-MDS patients have poor prognosis. However, NT/T cannot be simply classified as high-risk group, but with consideration whether they have affected particular chromosomal structures as well as other clinical data.

Myelodysplastic syndrome: validation of flow cytometry multilineage score system / Síndrome mielodisplásica: validação de ficha de escore multilinhagem por citometria de fluxo

ABSTRACT Objective To validate multilineage score system correlating results of flow cytometry, cytogenetics, cytomorphology and histology from samples of patients with suspected myelodysplastic syndrome or cytopenia of unknown origin. Methods A retrospective study analyzing laboratory data of 49 patients with suspected myelodysplastic syndrome or cytopenia of unknown origin, carried out between May and September 2017. The inclusion criteria were availability of flow cytometry results, and at least one more method, such as morphology, histology or cytogenetics. Thirty-eight patients were classified as diagnosis of myelodysplastic syndromes, whereas 11 were classified as normal. Patients were evaluated based on score systems, Ogata score and flow cytometry multilineage score. Results Comparing the scores obtained in the Ogata score and the multilineage score, it was observed that in four cases the Ogata score was zero or 1 point, while the multilineage score was higher than 3 points. In addition, in 12 cases with Ogata score of 2, the multilineage score was greater than 3. Conclusion The flow cytometry multilineage score system demonstrated to be more effective in dysplasia analysis, by assessing the erythroid, monocytic, granulocytic and precursor cell lineages, apart from the parameters evaluated by the Ogata score.

RESUMO Objetivo Validar ficha de escore multilinhagem correlacionando resultados obtidos de citometria de fluxo, citogenética, citomorfologia e histologia de amostras de pacientes com suspeita de síndrome mielodisplásica ou citopenias a esclarecer. Métodos Estudo retrospectivo de análise de dados laboratoriais de 49 pacientes com suspeita clínica de síndrome mielodisplásica ou citopenias a esclarecer realizado entre maio e setembro de 2017. Os critérios de inclusão foram a disponibilidade de resultados de citometria de fluxo e de, pelo menos, outra metodologia, entre morfologia, histologia, ou citogenética. Trinta e oito pacientes foram classificados como diagnosticados com síndromes mielodisplásicas enquanto 11 foram classificados como normais. Os pacientes foram avaliados utilizando sistemas de escore, escore de Ogata e ficha multilinhagem. Resultados Comparando as pontuações obtidas no escore de Ogata e na ficha multilinhagem, observou-se que, em quatro casos, o score de Ogata foi zero ou 1 ponto, enquanto, pela ficha multilinhagem, a pontuação foi superior a 3 pontos. Além disso, em 12 casos com escore de Ogata 2, a pontuação pela ficha multilinhagem foi superior a 3. Conclusão A ficha multilinhagem demonstrou ser mais eficaz na análise de displasia por avaliar as linhagens eritroide, monocítica, granulocítica e células precursoras, além dos parâmetros avaliados no escore de Ogata.

Dos gabinetes de ginecologia às campanhas de rastreamento: a trajetória da prevenção ao câncer de colo do útero no Brasil / From gynaecology offices to screening campaigns: a brief history of cervical cancer prevention in Brazil

This paper discusses the knowledge and medical practices relating to cervical cancer in Brazil. It analyses the growing medical interest in the disease at the beginning of the twentieth century, the development of prevention techniques in the 1940s, and the emergence of screening programs in the 1960s. It argues that the development of knowledge on cervical cancer was related simultaneously to a number of factors: transformations in medical knowledge, the development of the idea that the disease should be treated as a public health problem, the increased concerns with women's health, and major changes to the Brazilian healthcare system. The article concludes by identifying a number of issues that are still proving to be obstacles to control of the disease.

Discute os conhecimentos e as práticas médicas sobre o câncer de colo do útero no Brasil. Analisa a ampliação das preocupações médicas com a doença no início do século XX, o desenvolvimento das técnicas de prevenção, nos anos 1940, e o surgimento dos programas de screening na década de 1960. Argumenta que o desenvolvimento dos conhecimentos sobre o câncer de colo do útero se relacionou simultaneamente com as transformações no conhecimento médico, o desenvolvimento da noção de que a doença deve ser vista como problema de saúde pública, a ampliação das preocupações com a saúde da mulher e as transformações do sistema de saúde brasileiro. Conclui apontando algumas questões que ainda se mostram como entraves ao controle da doença.

Diagnostic role of bone marrow aspiration and trephine biopsy in haematological practice

To determine the usefulness of bone marrow aspiration and trephine biopsy in evaluation of the bone marrow in routine haematological practice. This study included 443 cases of bone marrow examination, referred to Pathology Department, Lady Reading Hospital Peshawar during the period extending from January 2012 till July 2013. All the bone marrow smears and bone biopsy sections were examined in detail. The diagnosis and findings on aspirate and biopsy were evaluated and compared with each other. In 73.8% of the cases the bone marrow aspiration and trephine biopsy showed same diagnosis i.e., bone marrow aspiration alone was sufficient for diagnosis in these cases. In the remaining 116 [26.2%] cases trephine biopsy sections or touch imprints were found to be necessary in for making final diagnosis. These cases were those of the hypoplastic / aplastic marrows, Myelofibrosis, lymphomatous infiltration and chronic granulomatous inflammation. The study results suggest that both the aspirate and trephine biopsy complement each other. Nutritional anaemias, Haematological Malignanciesand Immune Thrombocytopenia can be readily diagnosed by bone marrow aspiration alone. Trephine biopsy is necessary for diagnosing Granulomatous Inflammation and Hypoplastic/Aplastic Anaemia. Also trephinebiopsy is required to diagnose Myelofibrosis and Lymphomatous infiltration

Myelodysplastic syndrome following essential thrombocytopenia in hypertension a case report

Myelodysplastic Syndrome [MDS] is a disorder of haemopoietic stem cell. Since, it has not been commonly observed in Pakistan, this case study is to understand the scientific and therapeutical comprehension of MDS. An 81 year old male hypertensive patient was presented in a private hospital of Islamabad, Pakistan, with anemia. On medical investigation the physician prescribed him, multi-vitamins OD for a month; injection G-CSF 300 mcg once a week; Molgramostim 300 microg on every alternate day for 3 weeks: Thalidomide 100 mg OD with Alprazolam 0.5 mg at night for 4 weeks and 5'-azacytidine for a month. Clinical and pharmaceutical inaccuracies were observed. Moreover; the high cost and long term therapy are major obstacles to cure this disease. Therefore, affordable method and short-term effective therapy and reduced cost of drugs will help to cure the disease in more efficient way and in less time with more promising results

Epidemiología de los síndromes mielodisplásicos / Epidemiology of myelodysplastic syndromes

Revisión acerca de los aspectos epidemiológicos locales e internacionales en relación con este grupo heterogéneo de neoplasias hematológicas.

Síndrome de Sweet e policondrite recidivante reveladores de síndrome mielodisplásica / Sweet's Syndrome and relapsing polychondritis signal myelodysplastic syndrome

Certas dermatoses, pertencentes ao grupo das síndromes paraneoplásicas mucocutâneas, podem ser o prenúncio de uma neoplasia previamente não conhecida. Tanto a síndrome de Sweet como a policondrite recidivante incluem-se neste grupo. A síndrome de Sweet e a PR são raramente encontradas em um mesmo paciente. A presença de policondrite recidivante e síndrome de Sweet em um mesmo paciente tem se revelado mais frequente em pacientes com neoplasias associadas, sobretudo hematológicas. Relata-se o caso de paciente do sexo masculino, 79 anos, com síndrome de Sweet e policondrite recidivante, em quem, subsequentemente, foi diagnosticada uma síndrome mielodisplásica.

The emergence of certain skin conditions belonging to the group of mucocutaneous paraneoplastic syndromes may indicate the future appearance of a previously unknown malignancy. Sweet's Syndrome and relapsing polychondritis are included in this group. Sweet's Syndrome and relapsing polychondritis are very rarely found together in the same patient. This dual occurrence is more commonly found in cancer patients with associated hematological malignancies. We report the case of a 79year-old male with Sweet's Syndrome and relapsing polychondritis, who was subsequently diagnosed with a myelodysplastic syndrome.

Avaliação do método da imunofenotipagem por citometria de fluxo no diagnóstico das doenças displásicas (SMD, LMA-relacionada à mielodisplasia, LMMC e LMMJ) em adultos e crianças / Evaluation of the method of immunophenotyping by flow cytometry in the diagnosis of dysplastic disease (MDS, AML-related to myelodysplasia,CMML and JMML) in adults and children

As síndromes mielodisplásicas (SMD) se caracterizam por terem uma hematopoese displásica, citopenias e pelo risco de progressão para leucemia mielóide aguda. O diagnóstico baseia-se na clínica e nos achados citomorfológicos da medula óssea (MO) e citogenéticos. Na fase inicial ou quando a MO é hipocelular o diagnóstico é difícil e a citogenética frequentemente é normal. A imunofenotipagem (IMF) tem sido cada vez mais utilizada nos casos de SMD em adultos e pouco explorada na SMD pediátrica. Os nossos objetivos foram: estudar os casos de SMD e doenças correlatas (LMA relacioanda à SMD: LMA-rMD; leucemia mielomonocítica crônica: LMMC e leucemia mielomonocítica juvenil: LMMJ) em adultos e crianças, associando os dados clínicos e laboratoriais aos obtidos pela IMF, que utilizou um painel de anticorpos monoclonais para as várias linhagens medulares. No período compreendido entre 2000 e 2010 foram estudados 87 pacientes (64 adultos e 23 crianças) oriundos do HUPE/UERJ e IPPMG/UFRJ e 46 controles (23 adultos e 20 crianças). Todos os doentes realizaram mielograma, biópsia óssea, citogenética, citoquímica e estudo imunofenotípico. Segundo os critérios da OMS 50 adultos foram classificados como SMD, 11 como LMA-rMD e 3 LMMC. Entre as crianças 18 eram SMD, 2 LMA e 3 LMMJ. Os pacientes adultos com SMD foram divididos em alto risco (n=9; AREB-1 e AREB-2) e baixo risco (n=41; CRDU, CRDM, CRDM-SA, SMD-N e SMD-5q). As crianças com SMD em CR (n=16) e AREB (n=2). Anormalidades clonais recorrentes foram encontradas em 22 pacientes adultos e em 7 crianças. Na análise de IMF foi utilizada a metodologia da curva ROC para a determinação dos valores de ponto de corte a fim de identificar os resultados anormais dos anticorpos monoclonais nos pacientes e nos controles, permitindo determinar a sensibilidade e especificidade desses em cada linhagem. A IMF foi adequada para a análise em todos os pacientes e 3 ou mais anormalidades foram encontradas. A associação da IMF...

Myelodysplastic syndrome (MDS) is characterized by having a dysplastic hematopoiesis, cytopenias and risk of progression to acute myeloid leukemia. The diagnosis is based on clinical and cytomorphologic findings in bone marrow (BM) and cytogenetics. In the initial phase of when the BM is hypocellular, diagnosis is difficult and often with normal karyotype. The flow cytometry immunophenotyping (FCI) analysis has been broadly used in adult MDS cases but is rarely in pediatric MDS. The objectives of this work were: to study MDS cases and correlated diseases (AML with myelodysplasia-related changes; chronic myelomonocytic leukemia - CMML and juvenite myelomonocytic leukemia - JMML) and to correlate laboratorial data to FCI using a panel of monoclonal antibodies for the various marrow lineages in both adult and children. In the period between 2000 and 2010, 87 patients were studied (64 adults and 23 children) coming from HUPE/UERJ and IPPMG/UFRJ and 46 controls (26 adults and 20 children). All patients were submitted to myelogram, bone marrow biopsy, cytogenetic, cytochemistry and immunophenotypic study. According to WHO criteria 50 adults were classified MDS, 12 AML and 3 CMML. Among the children there were 18 MDS, 2 AML, and 3 JMML. MDS adult patients were subdivided into high risk (n=9; RAEB-1 and RAEB-2) and low risk (n=41; RCUD, RCMD-RS, MDS-U and MDS-5q). MDS children were classified as RCC (n=16) and RAEB (n=2). Clonal abnormalities were found in 22 (35%) adult patients and 7 (30%) children. In the analysis of FCI methodology ROC curve was used for determination of cut off abnormalities at monoclonal antibodies in patients and controls which allowed to estimate the sensitivity and specificity of each strain. The FCI was suitable for analysis in all patients and 3 or more abnormalities were found. The association of the FCI increased the sensitivity of morphological analysis in the erythroid lineage from 70 to 97% in adults and from 59 to 86% in children...

Clinicopathological analysis of myelodysplastic syndrome according to French-American-British classification

To evaluate the age of onset, gender ratio, clinical presentation of Myelodysplastic syndrome patients, and to classify these patients according to French-American-British classification on the basis of morphological features in blood and bone marrow. Case series. The department of Haematolgoy, Shaikh Zayed Hospital, Lahore, from April 2007 to March, 2007. Fifty patients of primary Myelodysplastic syndrome [MDS] were studied. The patients were classified according to French-American-British [FAB] criteria and the epidemiological, clinical and haematological features of MDS patients were evaluated. Descriptive statistics were used to describe data. There were 31 males and 19 females. The mean age was 41 years. According to FAB classification, 39 cases of retractory anaemia, 1 case of retractory anaemia with ring sideroblast, 6 cases of retractory anaemia with excess of blasts and 4 cases of refractory anaemia with excess of blasts in transformation were identified. The commonest complaint was easy fatiguablity affecting 41 cases [82%]. Anaemia was the most common finding seen in 47 patients [94%]. Pancytopenia was seen in 33 cases [66%]. Dyserythropoeisis was present in 42 [84%], dysmyelopoeisis was seen in 21 [42%] and morphologically abnormal megakaryocytes were identified in 29 [58%] of the bone marrow aspirates. Grade-III reticulosis was seen in 9 bone marrow trephine biopsies. Abnormla localization of immature precursors [ALIP] were present in 18 cases. MDS was more frequent in young males, Refractory anaemia constituted a major chunk of the disease entity

Mielodisplasia en pacientes pediátricos: evaluación de clasificaciones actuales / Myelodysplasia in pediatric patients: evaluation of current classifications

Introduction: Myelodysplastic Syndrome (MDS) in pediatrics is a rare and difficult clinical picture to diagnose. Classifications currently in use do not always help in identifying risk factors for leukemic transformation in children. Objective: To evaluate the value of current classifications by simultaneously determining a) the frequency of MDS in a pediatric population b) applying CCC classification (category, cytopenias, cytogenetic) and Passmore score (risk score), and c) correlating with progression and evolution to leukemia. Methods: Medical records of 56 children with cytopenias who were registered at the Hemato-oncology Unit, Hospital Roberto del Rio, were retrospectively reviewed from July 2000 to December 2007. Results: 13 patients met MDS diagnostic criteria (7.3 percent of the total hematological malignancies population). According to CCC classification, de novo MDS, refractory cytopenias with dysplasia and abnormal karyotype were the most frequent features. All patients with a high Passmore score progressed to leukemia. Conclusions: SMD classification in pediatrics patients remains difficult given the many differences with an adult population. CCC appears to be the most applicable for our pediatric population. High Passmore score correlated with leukemia development.

Introducción: El Síndrome mielodisplásico (SMD) en pediatría constituye una patología hemato-oncológica rara y de difícil diagnóstico. Las clasificaciones en uso, FAB (Franco Américo Británica) y OMS (Organización Mundial de la Salud), no han permitido definir factores de riesgo de transformación leucémica. Objetivo: Conocer la frecuencia del SMD en una población pediátrica, aplicar la clasificación CCC (Categoría, Citopenia, Citogenética) y el Score de Passmore (puntaje de riesgo) y relacionarlos con evolución y progresión a leucemia. Pacientes y Método: Revisión retrospectiva de 56 fichas de pacientes con citopenias atendidos en la Unidad de Hemato-oncología del Hospital Roberto del Río, entre Julio 2000 y Diciembre 2007. Resultados: Trece pacientes reunían criterios de SMD, correspondiendo al 7,3 por ciento de las neoplasias hematológicas. Al aplicar la clasificación CCC, predominaron los SMD de novo, las citopenias refractarias con displasia y el cariotipo anormal. Todos los pacientes con Score de Passmore > 2 progresaron a leucemia (4/9). Conclusiones: La clasificación del SMD en pediatría continúa siendo compleja. La clasificación CCC resultó más aplicable en la población pediátrica que las anteriores clasificaciones. El Score de Passmore mostró una alta correlación entre puntaje elevado y evolución a leucemia.

Trasplante de células hemopoyéticas: en los síndromes mielodisplásicos / Transplant of hemopoyetic cells: in myelodisplastic syndrome

En el presente trabajo se realizó un estudio retrospectivo de 22 pacientes diagnosticados con síndrome mielodisplásico y a los cuales se les realizó un trasplante de células hemopoyéticas con el fin de evitar el progreso de la enfermedad a un proceso mieloproliferativo. El estudio comprende el período entre octubre de 1988 y diciembre de 2005, y su objetivo es comparar los resultados y evolución de los pacientes con otros centros de trasplante. La sobrevida de nuestros pacientes es similar a la reportada en otros centros.

In the present work a retrospective study of 22 patients with myelodispastic syndrome who underwent a transplant of hemopoyetic cells in order to avoid the progression of the disease in to a myloproliferative process. The study takes into account all the data beginning October 1988 and ending December to 2005, and its objective is to compare the results and the prognosis of these patients against the results of other transplant centers. The super life of our patients is similar to the reports of other centers.

Paniculitis neutrofílica asociada a la leucemia promielocítica aguda / Neutrophilic panniculitis associated with acute piomyelocytic leukemia

La paniculitis neutrofílica (PN) asociada a síndrome mielodisplásico es una condición muy rara. Presentamos un paciente con PN como parte de una manifestación inicial de síndrome mielodisplásico (Leucemia promielocítica aguda). La PN aparece como una erupción nodular subcutánea, dolorosa, acompañada de síntomas sistémicos, cuyo estudio histopatológico evidencia un infiltrado neutrofílico lobular sin vasculitis, limitado al tejido subcutáneo. Debe ser diferenciada de otros tipos de dermatosis neutrofílicos y de otras hipodermitis lobulares. La PN se asocia significativamente a procesos mielodisplásicos y es altamente sensible al tratamiento con cortidoides sistémicos.

Mielodisplasia na infância: o grupo cooperativo brasileiro e seu impacto educacional, na melhoria do diagnóstico e do tratamento / Childhood myelodysplasia: the brazilian cooperative group and its educational impact for correct diagnosis and the treatment

O número de casos de crianças com mielodisplasias tem aumentado consideravelmente nos últimos anos e dai a necessidade e a importância de se criar um grupo cooperativo reunindo profissionais que tenham interesse no estudo dos diferentes aspectos da doença. O Grupo Cooperativo Brasileiro de Síndrome Mielodisplásica em Pediatria (GCB-SMD-PED) foi formado em Janeiro de 1997 com o objetivo de estudar crianças (menores de 18 anos) com diagnóstico confirmado ou suspeita de mielodisplasia de todo o país. É um grupo composto por hematologistas, pediatra-oncologistas, pediatra-hematologistas e estudiosos em biologia molecular, entre outros. Os objetivos do GCB-SMD-PED são: i) servir como centro de referência educacional em mielodisplasia pediátrica, ii) conhecer os aspectos epidemiológicos da doença em nosso meio e iii) oferecer apoio e orientação para o diagnóstico e para o tratamento, inclusive realizando exames mais sofisticados tais como citogenética e biologia molecular. Os primeiros resultados do GCB-SMD-PED foram analisados a partir de 36 casos pediátricos e comparados com 189 pacientes adultos. Tais dados foram apresentados no 5º Símposio Internacional de Mielodisplasia em Praga em 1999. Em 2001 no 6º Simposio Internacional de Mielodisplasia realizado em Estocolmo, 114 pacientes pediátricos matriculados no GCB-SMD-PED no período de Janeiro de 1997 a Dezembro de 2000. Destes, 64 crianças foram confirmadas como portadoras de mielodisplasia, 38 casos foram confundidos com mielodisplasia e em 12 casos o material foi considerado inadequado para confirmação do diagnóstico. Estes 114 casos eram oriundos de 21 centros brasileiros de 7 estados: Acre, Natal, Bahia, Goiás, Minas Gerais, São Paulo e Paraná. Trinta e um pacientes foram encaminhados através de professores universitários, 73 através de centros de oncologia pediátrica e 10 crianças encaminhadas de clínicas particulares. A maioria dos casos vieram para orientação diagnóstica, terapêutica ou para estudo complementar (citogenético ou biologia molecular).