The psuedo-Chediak-Higashi anomaly: an unusual staining pattern in an Indian child with acute myeloid leukemia

The authors describe the psuedo-Chediak-Higashi anomaly in a 12-year-old boy with acute myeloid leukemia (AML-M2). There were large purple granules in the blasts, promyelocytes, and myelocytes. Instead of the previously described patterns, the authors observed a unique rim pattern staining of the granules in both the May-Grunwald-Giemsa and the myeloperoxidase stains. Moreover, many of the granules had central vacuoles with strong myeloperoxidase positivity at the periphery. The bone marrow had a much higher positivity for these mega-granules as compared to the peripheral blood. On remission, these granules were no longer seen. To the best of the authors' knowledge, this pattern of staining has not been previously reported in the literature.     

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目的分析髓系抗原阳性儿童急性淋巴细胞白血病(ALL)的临床特点及预后关系。方法根据国际白血病欧洲协作组(EGIL)标准将1999—2004年上海交通大学医学院附属上海儿童医学中心收治的33例髓系抗原阳性表达的ALL(My+ALL)分为双表型、双系列型给予正规治疗。对其预后进行观察。结果(1)My+ALL患儿,双表型26例(78.8%,26/33),其中B系ALL伴髓系表达17例(65.4%,17/26),T系ALL伴髓系表达6例(23.1%,6/26),T系B系伴髓系表达3例(11.5%,3/26)。双系列ALL患儿7例(21.2%,7/33)。(2)26例双表型ALL患儿治疗35d,缓解率80.7%。7例双系列型ALL仅1例达缓解(14.3%)。(3)生存状态双表型26例中20例处于缓解状态(76.9%),双系列型7例中仅1例(14.3%)。(4)复发情况双表型6例复发(23.1%,6/26),双系列7例中6例复发(85.7%)。结论髓系抗原阳性表达在儿童ALL时不能作为预后不良的因素,但双系列白血病患儿预后差,复发率高,长期生存机会少。     

Childhood chronic myeloid leukemia with celiac disease

We report a 6‐year‐old female with congenital bone marrow failure, who was referred for allogeneic stem cell transplantation. An initial work‐up in infancy had not revealed any consistent symptoms associated with an inherited syndrome. Computed tomography of her abdomen for gastrointestinal bleeding after transplantation incidentally revealed a fat‐replaced pancreas and led to the molecular diagnosis of Shwachman–Diamond syndrome (SDS) in the absence of clinical exocrine pancreatic insufficiency. We conclude that SDS may escape the clinical consensus criteria for the disease. Increased awareness of unusual presentations may allow confirming the suspected diagnosis by molecular analysis and ensure optimal management. Pediatr Blood Cancer 2010;55:177–179. © 2010 Wiley‐Liss, Inc.     

Hereditary multiple exostoses and acute myeloid leukemia: an unusual association

Hereditary multiple exostoses (HME) is an autosomal dominant disorder characterized by the presence of multiple exostoses. Threegenetic loci have been identified, of which two (EXT1 and EXT2) have tumor suppressor activity. HME greatly increases the risk to develop sarcoma in the dysplastic tissue. The authors report an 8-year-old girl with HME who developed acute myeloblastic leukemia.     

Epidemiology of childhood acute myeloid leukemia

Although leukemia is the most common childhood cancer diagnosis, the subtype, acute myeloid leukemia (AML), is less common and fewer etiologic studies exist. This review summarizes the major risk factors for AML. We searched the literature using PubMed for articles on childhood AML and reviewed 180 articles. While few risk factors are definitive, we identified several with consistent evidence of a possible effect. Thorough analysis of genetic and epigenetic factors is missing from this literature and methodological issues are unresolved. Future studies should more closely examine causal mechanisms, improve exposure measurement, and include analysis using genetic and epigenetic factors. Pediatr Blood Cancer 2013; 60: 728–733. © 2013 Wiley Periodicals, Inc.     

儿童急性髓性白血病治疗现状

1　急性髓性白血病 (ＡＭＬ)的诊断和鉴别诊断小儿ＡＭＬ的确诊主要依靠骨髓涂片检查。其分型基本与成人相同 ,即Ｍ1至Ｍ7型。大约有 2 0 %的患儿仅通过其原始细胞形态和组化染色难以鉴别白血病类型 ,应行细胞遗传学和免疫表型分析 ,以利于ＡＭＬ与急性淋巴细胞白血病 (ＡＬＬ)     

Simultaneous tumors: acute myeloid leukemia infiltrating mediastinal ganglioneuroblastoma

We report the case of a child presenting with concurrent thoracic ganglioneuroblastoma and acute myeloid leukemia. The peculiarity was the close relation between the two tumors with the latter infiltrating the former one. Histological and genomic studies indicate the different clonal origins of the malignancies in the patient, and we hypothesized that GNB and AML developed independently. Our observation suggests that in patients with more than one tumor, though discovered at different times, one neoplasm is not always secondary.     

Facial palsy as an unusual presenting symptom associated with acute myeloid leukemia

Extramedullary infiltration is common in acute myeloid leukemia (AML) patients. Although AML can cause neurological symptoms, especially when associated with extramedullary infiltration, a presenting manifestation of facial palsy is rare. We report on a 1‐year‐old boy who developed right facial palsy. Detailed examination led to a diagnosis of AML (French–American–British classification M1). Magnetic resonance imaging enhanced with gadolinium‐diethylenetriamine penta‐acetic acid showed abnormal enhancement of the right facial nerve, which disappeared after chemotherapy. AML should be considered as a differential diagnosis of facial palsy. Enhanced magnetic resonance imaging may be useful for diagnosing facial palsy associated with AML and for evaluating treatment outcome.     

Helicobacter pylori in children: an Indian perspective

Helicobacter pylori is causally associated with peptic ulcer disease and gastric carcinoma. Typically children get infected with this organism during the first decade of life but diseases, associated with H. pylori, are seen mainly in adults. In India, almost 80% of population is infected with H. pylori and most of them by 10 years of age. Hence, it is important for a pediatrician to know when to suspect this infection, how to investigate and how to treat it. Extensive electronic (PubMed) literature search was done for this review and literature (randomized controlled trials, clinical trials, meta-analysis, practice guidelines) related to H. pylori in children were reviewed. Special emphasis was given to Indian studies. From this review we can conclude that H. pylori infection is very common in Indian children especially in the low socioeconomic status but most infected children remain asymptomatic through out their childhood and about 15% develop peptic ulcer disease as young adults and 1% develop gastric cancer in older age. There is no association, what so ever, of H. pylori infection and recurrent abdominal pain (RAP). Endoscopy is the preferred method of investigation in children with upper digestive symptoms suggestive of organic disease. Children with H. pylori related disease (peptic ulcer, primary gastric B-cell lymphoma and atrophic gastritis with intestinal metaplasia) but not mere H. pylori infection should be treated with the triple drug regimen comprising of proton pump inhibitor (PPI) and two antibiotics for two weeks.     

儿童Pre-B急性淋巴细胞白血病和急性髓系白血病特异遗传亚型

目的总结儿童急性白血病(AL)特异遗传亚型的发生率和特征,为评估预后提供依据。方法对365例AL患儿进行骨髓染色体核型检测分析白血病细胞的遗传学特点,荧光原位杂交(FISH)检测特异基因及相应位点拷贝数变异。结果 175例前体B急性淋巴细胞白血病(Pre-B ALL)和54例急性髓系白血病(AML)存在特异亚型。在Pre-B ALL中,高超二倍体最常见(33%),t(12;21)/ETV6-RUNX1、t(4;11)/MLL重排、t(9;22)、t(1;19)和iAMP21占比分别为22%、5%、3%、7%和1%。在AML中,MLL重排最常见(18%),其中t(9;11)型占56%;BCR/ABL阳性1例,FISH证实是隐匿核型ins(22;9);t(8;21)、t(15;17)和inv(16)分别占12%、15%和8%。倍体水平显示ALL高超二倍体和AML超二倍体获得染色体方式为非随机性。值得注意的是特异亚型中的变异型和不同附加异常,如额外融合,del(9p),del(12p),dup(1q)和非整倍体等畸变。结论儿童Pre-B ALL和AML中特异遗传亚型的发生率与西方儿童相似,揭示遗传异质性可能有助于预后研究。     

儿童急性髓系白血病的治疗进展

急性髓系白血病(acute myeloid leukemia,AML)是一组异质性疾病,约占15岁以下儿童所有确诊肿瘤的15％～ 20％,在过去的几十年里,儿童AML的长期预后取得了巨大的进展.基于AML临床和生物学特征的更加完善的危险度分层,抗白血病药物更加有效的应用以及在支持治疗方面的进展使得儿童AML治愈的可能性达到了60％左右.该文就儿童AML在化疗方案和化疗药物方面的新进展作一综述.     

Childhood relapsed acute lymphoblastic leukemia: Biology and recent treatment progress

Acute lymphoblastic leukemia (ALL) is the most frequent cancer in children. Despite remarkable improvement in the prognosis of childhood ALL over the past few decades, the treatment of relapsed ALL is still challenging. The prognosis of first ALL relapse is associated with time of relapse after initial therapy, sites of relapse, and immunophenotype. More recently, response to treatment, which is evaluated by assessment of minimal residual disease (MRD), has been found to be clinically significant in relapsed ALL as well as in the initially diagnosed disease. Utilizing these factors, risk‐oriented treatment stratification for first ALL relapse has been established. In the standard‐risk group for first ALL relapse, intensification of conventional ALL‐type therapy can provide a cure in approximately 70% of patients. It is important to assess MRD after reinduction therapy to determine the indications for stem cell transplantation in the standard‐risk group. In contrast, no standardized therapy has been established for the high‐risk group, which accounts for more than half of relapsed ALL patients. Recent studies have shed light on the clonal origin of relapsed ALL, which usually exists as a minor subclone at the time of initial diagnosis. Clonal selection and evolution take place during chemotherapy, resulting in distinct genetic and epigenetic characteristics of relapsed ALL, some of which are linked to drug resistance, a common and problematic feature of ALL after relapse. To overcome resistance to standard ALL‐type therapy, and considering the heterogeneous biological background of high‐risk relapsed ALL, innovative therapies using new agents are necessary.     

Gender assignment in male pseudohermaphroditism: an Indian perspective

Parents of 21 out of 30 children with male pseudohermaphroditism (MPH) opted for a male upbringing for their child and appropriate management was instituted. The phallic size in these 21 children varied from adequate to microphallus, although at least one externally visible testis was present in all cases. Nine children who were assigned a female gender were being reared as girls at home prior to medical consultation and 7 of them had a female-type vulvar outlet. This predominance of male gender assignment in MPH is in striking contrast to the Western experience. The reasons for this difference in India are discussed in the light of the Indian social and economic background. Correspondence to: S. Sen     

儿童急性髓系白血病治疗进展

急性髓系白血病(AML)是由于造血干细胞分化障碍及增殖过度所致异常骨髓造血前体细胞聚集的恶性克隆性疾病。近年来随着危险度分层的合理应用、靶向药物的不断研发、支持治疗的进步、造血干细胞移植技术的日渐成熟,儿童AML的生存率已经较前有明显提高。文章综述儿童AML的治疗进展。