Detection of new translocation in infant twins with concordant ALL and discordant outcome

About 2-5 of acute lymphoblastic leukemia (ALL) cases in pediatric patients are infants with an unfavorable prognosis because of high relapse probability. Early detection of the disease is, therefore, very important. Despite the fact that leukemia in twins occurs rarely, more attention has been paid to it in genetic studies. In the present study, through cytogenetic testing, a special case of concordant ALL in monozygotic twins was presented with different outcomes. In spite of an acceptable initial consequence to medical treatment in twins, in another brother (Twin B), early relapse was observed. In the cytogenetic study, both twins expressed t (4; 11) (q21; q23) while twin A expressed t (2; 7) (p10; q10). No cases have previously reported this mutation. Whether this translocation has a protective role for leukemia with mixed-lineage leukemia (MLL) gene rearrangement is still unclear. The difference in the translocation identified in the identical twins is also subject to further investigations. © 2020 by the authors

Peripheral primitive neuroectodermal tumor associated with paraneoplastic Cushing's syndrome: The rare case

Introduction: Primitive neuroectodermal tumors (PNET) form a group of tumors defined by their appearance that are thought to develop from primitive (undifferentiated) nerve cells in the brain. They are rare tumors and their incidence is not well defined. Case presentation: An 18-month-old male presenting with typical Cushingoid appearance (moon face, central obesity, hirsutism and growth arrest) was admitted for evaluation of endocrine problems. Subsequent laboratory studies revealed markedly elevated adrenocorticotropic (ACTH) and cortisol levels, as well as a hypokalemic metabolic alkalosis, these data are consistent with the diagnosis of Cushing's disease. He was treated with metyrapone to control hypercortisolemia. One month and a half later, a mass was detected in the abdomen by ultrasonography. An abdominal Computed tomography confirmed a large heterogeneous retroperitoneal mass with a significant amount of extension into surrounding structures which was removed by laparoscopic abdominal surgery. The patient's symptoms completely resolved and the ACTH and cortisol levels were also greatly reduced. Histologically, the tumor tissue consistent with the diagnosis of the retroperitoneal primitive neuroectodermal tumor which was confirmed immunohistochemically. This case demonstrates the successful diagnosis and treatment of a rare neoplasm. Conclusion: This is the first rare case with ectopic ACTH syndrome caused by the peripheral primitive neuroectodermal tumor. © 201

The outcome of children with acute lymphoblastic leukemia without receiving sufficient dose of l-asparaginase

In acute lymphoblastic leukemia (ALL) patients treated with L-asparaginase, discontinuation of the drug occasionally occur due to severe drug complications or resistance, however, due to the high efficacy of this drug in the recovery of patients and the prevention of disease recurrence, resuming the drug regimen is preferred in most patients. What we did in this study was to evaluate and compare the effects of clinical outcomes in the two modes of continuing and discontinuing drug use. In this retrospective cohort study, all children with ALL who had been treated with L-asparaginase during the years 2005 to 2015 were included in the study and categorized into two groups receiving complete treatment regimen (n=160) and those who had to discontinue the drug due to appearing complications (n=9). The rate of relapse and mortality rate was determined and compared across the two groups with a median follow-up time of more than 5 years. 5-yrs Overall survival of all enrolled patients in the groups continued and discontinued was 91.4±2.5 and 71.4±17.1, respectively (P=0.792). Also, 5-yrs event-free survival of the two groups was 75.8±3.5 and 71.4±17.1, respectively (P=0.557. Relapse was revealed in 17.5 and 33.3 respectively and mortality in 16.9 and 0.0 (P=0.261). However, the overall prevalence of hypersensitivity reaction to the drug was significantly higher in those patients who discontinued their drug regimen (100 versus 24.4, P<0.001). Hypersensitivity reaction to drugs may be an important factor in discontinuing L-asparaginase in patients with ALL. The discontinuation of L-asparaginase supplementation due to various complications such as hypersensitivity reactions may be effective in the survival of these patients. However, accurate determination of the effect of discontinuation of this drug on the outcome of children with ALL requires a more comprehensive study with more complicated cases. © 2020 Tehran University of Medical Sciences

Relationship of primary immune thrombocytopenic purpura and atopia among children: a case control study

Atopic dermatitis (AD) is a chronic disease affecting 10�30 of children and 2�10 of adults worldwide. It is manifested by the pruritus eczema lesions on the skin. Immune thrombocytopenic purpura (ITP) is the most common cause of acute onset of thrombocytopenia in childhood. The aim of this study was association of primary immune thrombocytopenic purpura and atopia among children. This case control study was performed on patients with acute and chronic ITP who were confirmed by a hematologist. The control group was also selected from the siblings of the patients who were healthy and almost matched by age and sex with the patient group. Data were entered into a questionnaire under the SPSS-20 program, and demographic data were analyzed descriptively. In the present study, 120 patients were enrolled, 60 of whom were in the patient group and 60 in the control group. Mean age was 95 and 98 months for patients and control. This study showed a significant association of ITP with allergic rhinitis (P = 0.02), atopic dermatitis (P = 0.004), itching (P = 0.042), and dry skin (P = 0.015). However, no significant relationship was found between ITP and asthma (P-value = 0.18). This study does not reveal the causality between atopy and ITP but clearly shows the association between atopy and ITP disease, so the prevalence of atopy in ITP patients is higher than the normal population. According to the results of this study, it is necessary to investigate the cause of atopy and ITP and to find other immunological and possibly genetic commonalities. © 2020, The Author(s)

Bilateral Botryoid Wilms Tumor presented with acute renal failure

Botryoid Wilms tumors are intrapelvic polypoid masses that are uncommon feature of Wilms tumor. The authors reported a rare case of bilateral botryoid Wilms tumor in a 19-month-old boy who admitted to hospital with acute renal failure secondary to hydronephrosis caused by bilateral botryoid Wilms tumor with ureteral extension. The patient was successfully treated with chemotherapy and bilateral nephron sparing surgery in 2 separate operations. During 15 months follow-up, no evidence of recurrence or metastasis was found. © 202

Bilateral maxillary, sphenoid sinuses and lumbosacral spinal cord extramedullary relapse of CML following allogeneic stem cell transplant

Isolated extramedullary relapse of chronic myelogenous leukemia (CML) after allogeneic stem cell transplant is rare. There is a case report of a child who developed a granulocytic sarcoma of the maxillary and sphenoid sinuses and lumbosacral spinal cord mass 18 months after allogeneic bone marrow transplant for CML. He was presented with per orbital edema and neurological deficit of lower extremities and a mass lesion was found on spinal cord imaging. No evidence of hematologic relapse was identified at that time by bone marrow histology or cytogenetic. The patient died 1 month later with a picture of pneumonia, left ventricular dysfunction and a cardiopulmonary arrest on a presumed underlying sepsis with infectious etiology. Granulocytic sarcoma should be considered in the differential diagnosis of mass lesions presenting after allogeneic bone marrow transplantation for CML, even if there is no evidence of bone marrow involvement. © 2016, Tehran University of Medical Sciences (TUMS). All Rights Reserved

Erratum: COMPARE CPM-RMI trial: Intramyocardial transplantation of autologous bone marrow-derived CD133+ cells and MNCs during CABG in patients with recent MI: A phase II/III, multicenter, placebo-controlled, randomized, double-blind clinical trial. (Cell Journal (2018) 20:3 (449) DOI: 10.22074/cellj.2018.5197)

This article published in Cell J (Yakhteh), Vol 20, No 2, Jul-Sep 2018, on pages 267-277, four affiliations (1, 4, 5, and 10) were changed based on authors request. © 2018 Royan Institute (ACECR). All rights reserved

COMPARE CPM-RMI Trial: Intramyocardial transplantation of autologous bone marrow-derived CD133+ Cells and MNCs during CABG in patients with recent MI: A Phase II/III, multicenter, placebo-controlled, randomized, double-blind clinical trial

Objective: The regenerative potential of bone marrow-derived mononuclear cells (MNCs) and CD133+ stem cells in the heart varies in terms of their pro-angiogenic effects. This phase II/III, multicenter and double-blind trial is designed to compare the functional effects of intramyocardial autologous transplantation of both cell types and placebo in patients with recent myocardial infarction (RMI) post-coronary artery bypass graft. Materials and Methods: This was a phase II/III, randomized, double-blind, placebo-controlled trial COMPARE CPM-RMI (CD133, Placebo, MNCs - recent myocardial infarction) conducted in accordance with the Declaration of Helsinki that assessed the safety and efficacy of CD133 and MNCs compared to placebo in patients with RMI. We randomly assigned 77 eligible RMI patients selected from 5 hospitals to receive CD133+ cells, MNC, or a placebo. Patients underwent gated single photon emission computed tomography assessments at 6 and 18 months post-intramyocardial transplantation. We tested the normally distributed efficacy outcomes with a mixed analysis of variance model that used the entire data set of baseline and between-group comparisons as well as within subject (time) and group�time interaction terms. Results: There were no related serious adverse events reported. The intramyocardial transplantation of both cell types increased left ventricular ejection fraction by 9 95% confidence intervals (CI): 2.14% to 15.78%, P=0.01 and improved decreased systolic wall thickening by -3.7 (95% CI: -7.07 to -0.42, P=0.03). The CD133 group showed significantly decreased non-viable segments by 75% (P=0.001) compared to the placebo and 60% (P=0.01) compared to the MNC group. We observed this improvement at both the 6- and 18-month time points. Conclusion: Intramyocardial injections of CD133+ cells or MNCs appeared to be safe and efficient with superiority of CD133+ cells for patients with RMI. Although the sample size precluded a definitive statement about clinical outcomes, these results have provided the basis for larger studies to confirm definitive evidence about the efficacy of these cell types (Registration Number: NCT01167751). © 2018 Royan Institute (ACECR). All Rights Reserved