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Tet methylcytosine dioxygenase 2 (TET2) is one of the most frequently mutated genes in myelodysplastic syndrome (MDS). TET2 is known to involve a demethylation process, and the loss of TET2 is thought to cause DNA hypermethylation. Loss of TET2 function is known to be caused by genetic mutations and miRNA, such as miR-22. We analyzed 41 MDS patients receiving hypomethylating therapy (HMT) to assess whether TET2 mutation status and miR-22 expression status were associated with their clinical characteristics and treatment outcomes. Responsiveness to HMT was not affected by both TET2 mutation (odds ratio (OR) 0.900, p = 0.909) and high miR-22 expression (OR 1.548, p = 0.631). There was a tendency for TET2 mutation to be associated with lower-risk disease based on IPSS (Gamma = −0.674, p = 0.073), lower leukemic transformation (OR 0.170, p = 0.040) and longer survival (Hazard ratio 0.354, p = 0.059). Although high miR-22 expression also showed a similar tendency, this tendency was weaker than that of TET2 mutation. In summary, the loss of TET2 function, including both TET2 mutation and high miR-22 expression, was not a good biomarker for predicting the response to HMT but may be associated with lower-risk disease based on IPSS, lower leukemic transformation and longer survival.

Identification of chromosomal abnormalities in patients with acute myeloid leukemia (AML) has contributed substantially to our current understanding of the molecular pathogenesis underlying leukemogenesis, and risk-stratification based on molecular abnormalities both influences treatment strategies and aids in determining prognosis. While over 300 established mutations have been documented in AML, the enhanced availability of genetic analysis and the increase in awareness of uncommon chromosomal translocations have made it possible for rare, apparently unique translocations to become recognized and to ultimately gain prognostic significance. Hence, we present a case of AML with a novel, balanced 2;12 translocation involving breakpoints previously undescribed. Although the patient required second induction, first remission was ultimately achieved. While the prognostic significance of this translocation is not fully elucidated, it is our hope that documentation of this patient's presentation will help to characterize the significance of a yet undefined cytogenetic abnormality in AML.

Philadelphia chromosome positive (Ph+) in T-lineage acute lymphoproliferative tumors is a rare event in both children and adults. In particular, it has not been reported in T-cell lymphoblastic lymphoma(T-LBL) yet. Here, we describe a patient with Ph+ T-LBL for both cytogenetic abnormality and BCR-ABL1 fusion transcript. Moreover, we review the published cases of Ph+ T-cell acute lymphoblastic leukemia (T-ALL) in the literature and summarize their clinical characteristics, management, and prognosis.

目的 探讨初诊多发性骨髓瘤（NDMM）患者中ISS-Ⅲ期伴高危细胞遗传学异常（HRCA）1q获得/扩增或17p缺失双重打击的预后意义。 方法 回顾性分析2009年11月至2018年5月就诊的270例NDMM患者的临床资料，将ISS-Ⅲ期和两种HRCA（1q获得/扩增和17p缺失）定义为打击因素，根据患者携带打击因素的数目分组，应用Kaplan-Meier曲线分析各组无进展生存（PFS）和总生存（OS）时间的差异。 结果 无打击因素组患者66例（24.4%），中位PFS和OS时间分别为28.9和53.7个月；一种打击因素组120例（44.4%），中位PFS和OS时间分别为23.0个月和42.3个月（P值均>0.05），后者预后较差；与一种打击因素组比较，携带两种及以上打击因素组患者84例（31.1%），中位PFS和OS时间均显著缩短，分别为14.5个月（HR=1.584，95%CI 1.082~2.319；P=0.003）和18.4个月（HR=2.299，95%CI 1.485~3.560；P

目的 分析伴高危细胞遗传学异常（HRCA）及不同遗传学异常组合的初治多发性骨髓瘤（MM）患者的临床特征及预后，探讨HRCA的预后价值。 方法 回顾性分析2009年11月至2018年5月收治的182例初诊MM患者。HRCA包括FISH检出的1q+、del（17p）、t（4;14）、t（14;16），非HRCA包括FISH检出的del（13q）、t（11;14）。比较仅携带单一HRCA与1种HRCA伴非HRCA及≥2种HRCA（即“双/三打击”）组间临床特征的差异，应用Kaplan-Meier曲线分析其对生存的影响。 结果 1种HRCA伴非HRCA组与≥2种HRCA组（即“双/三打击”）中位无进展生存（PFS）时间分别为19.1和12.1个月（P=0.248），中位总生存（OS）时间为29.6和29.3个月（P=0.774），均分别低于仅携带单一HRCA组（中位PFS时间32.2个月，P=0.040，P=0.001；中位OS时间42.3个月，P=0.021，P=0.041）。合并分析后显示：1种HRCA伴其他遗传学异常组（无论高危、非高危）生存时间较仅携带单一HRCA组明显缩短[中位PFS时间15.1对32.2个月（HR=2.126，95%CI 1.176~3.843，P=0.005）；中位OS 29.3对42.3个月（HR=1.442，95%CI 0.705~2.950，P=0.011）]。 结论 基于FISH细胞遗传学检测“双/三打击”具有重要预后价值。

Introduction Prognosis of patients with newly diagnosed multiple myeloma (MM), a third most common hematological cancer, is dependent on baseline cytogenetics. However, little is known about the prognostic significance of cytogenetic evolution (CE) at the time between the diagnosis and relapse of MM. Objectives Here, we retrospectively analyzed the prognostic impact of CE detected in a routine interphase fluorescence in situ hybridization (FISH) test in a cohort of patients with MM. Patients and methods Among 650 patients evaluated with the FISH MM panel at our center between 2014 and 2019, we identified 29 individuals with MM who had been tested twice, at the time of diagnosis and relapse. Cytogenetic evolution was defined as the acquisition or loss of at least 1 cytogenetic abnormality at relapse (FISH2) compared with the baseline test result (FISH1). Results Cytogenetic evolution was seen in 14 patients (48%), whereas 15 had stable cytogenetics. Acquired chromosome 17p deletion (del[17p]) was the most common type of CE, found in 7 patients (24%). In univariable analysis, stable cytogenetics predicted longer overall survival (median not reached vs 3.8 years; hazard ratio [HR], 0.15; P = 0.04; median follow‑up of 3.1 years) and longer overall survival after FISH2 (median not reached vs 0.8 years; HR, 0.13; P = 0.002; median follow‑up of 0.6 years). In multivariable analysis, acquired del(17p) predicted shorter progression‑free survival and the overall survival after FISH2 (HR, 9.3 and 18.8; P = 0.005 and P = 0.004, respectively). Conclusions Presence of CE and, particularly, the acquisition of new del(17p) at relapse, negatively affect the outcome of MM. Therefore, re‑evaluation of FISH at MM relapse should be included in routine clinical practice.

Isolated trisomy 11 is a rare, poorly characterized cytogenetic abnormality in acute myeloid leukemia (AML). Although isolated trisomy 11 is detected in about 1% of AML cases in registry-based anal...

Central nervous system involvement in multiple myeloma (CNS-MM) is a rare condition. Various manifestations of CNS-MM have been reported, including dural, parenchymal, and leptomeningeal involvement. Among them, leptomeningeal involvement is less common and intraventricular involvement is exceptional, with only one case reported in the literature. Herein, we report the first case of CNS-MM manifesting as an intraventricular mass with leptomeningeal involvement combined with perineural spread. We also describe characteristic computed tomography and magnetic resonance imaging findings of intraventricular multiple myeloma.

Key Clinical Message We report two male siblings with SDS. They have the same compound heterozygous mutations. Only one of the siblings acquired cytogenetic abnormality of i(7q) 2 years after diagnosis, became transfusion‐dependent, and underwent allogeneic hematopoietic stem cell transplantation. These cases indicate that i(7q) is associated with significant cytopenia in SDS patients.

Summary The definition of the myelodysplastic syndrome (MDS) subtype ‘MDS with isolated del(5q)’ was expanded to include cases with one additional non-chromosome 7 based cytogenetic abnormality in the 2016 revised World Health Organization classification. This study applied the revised definition to a large primary MDS cohort, and evaluated the prognostic impact of the additional cytogenetic abnormality. Seventy-two of 1067 patients (7%) met the ‘MDS with isolated del(5q)’ criteria, 11 (1%) of whom had an additional cytogenetic abnormality. There was no survival difference between patients in whom del(5q) occurred alone, compared to those with one additional cytogenetic abnormality (P = 0·52).

Monosomy 7 [-7] and/or partial loss of chromosome 7 [del(7q)] are associated with poor and intermediate prognosis, respectively, in myelodysplastic syndromes (MDS), but somatic mutations may also play a key complementary role. We analyzed the impact on the outcomes of deep targeted mutational screening in 280 MDS patients with -7/del(7q) as isolated cytogenetic abnormality (86 with del(7q) and 194 with -7). Patients with del(7q) or -7 had similar demographic and disease-related characteristics. Somatic mutations were detected in 79% (93/117) of patients (82% in -7 and 73% in del(7q) group). Median number of mutations per patient was 2 (range 0-8). There was no difference in mutation frequency between the two groups. Patients harbouring >= 2 mutations had a worse outcome than patients with

Acquired isolated factor VII deficiency is a rare bleeding disorder and has been reported in 31 cases. This is in contrast to congenital factor VII deficiency, which while also infrequent is the most common rare congenital bleeding disorder. Acquired isolated factor VII deficiency has been described primarily in patients with solid malignancies, sepsis, and in the presence of anti-factor VII autoantibodies. We report a case of acute myelogenous leukemia with an associated trisomy 8 cytogenetic abnormality presenting with factor VII deficiency. The factor VII deficiency cleared after induction chemotherapy and with the disappearance of the cytogenetic and molecular abnormalities. We discuss a possible link between trisomy 8 and vitamin K metabolism, which might result in acquired factor VII deficiency in acute myelogenous leukemia.

NUT midline carcinoma (NMC) is a very rare, highly malignant disease with a specific cytogenetic abnormality t(15;19)(q14;p13.1). This tumor can occur throughout life, unfortunately, most cases are characterized by the presence of metastases at the time of diagnosis. There are clear cytogenetic and molecular-biological criterias for diagnosis. There are no specific standards of therapy that provide effective treatment of this pathology in the world. However, the presence of a chimeric oncogene characterizing the tumor is promising in terms of targeting drug research in the framework of international cooperation. It is also necessary to collect information about this rare disease to analyze it and to identify the most effective therapy method. This article presents an analysis of the clinical case of NMC, first diagnosed in a child of 9-yearsold in the Republic of Belarus.

Ying Hu, Wenming Chen, Shilun Chen, Zhongxia HuangDepartment of Hematology, Beijing Chaoyang Hospital Affiliated to Capital Medical University, Beijing, People’s Republic of ChinaObjective: To analyze the fluorescent in situ hybridization (FISH) data and the association with clinical characteristics, therapy response, and survival time in patients with multiple myeloma.Method: We performed a retrospective review of patients with multiple myeloma from November 2010 to April 2014.Results: Cytogenetic abnormalities by FISH were detectable in 66% of patients. One cytogenetic abnormality, two cytogenetic abnormalities, and complex abnormalities were detectable in 21.2%, 51.5%, and 27.3% of cases, respectively. 1q21 amplification, t(4p16.3/14q32), and 17p deletion were observed in 69.7%, 30.3%, and 21.2% of cases, respectively. Total response rates (complete response [CR] + near CR + partial response) were 93.8% and 82.1%, respectively, in cytogenetic normality group and abnormality group. CR rates were 50% and 32.1%, respectively. Median overall survival (OS) time was 51months and 24months, respectively, in cytogenetic normality group and abnormality group (P0.05). Median OS time was not significantly different between t(4;14) group and no t(4;14) group in patients with FISH abnormalities (P>0.05). Seven patients of 17p deletion died in 2years.Conclusion: Multiple myeloma is characterized by a high occurrence of chromosomal aberrations. 1q21 amplification and t(4;14) are the most common abnormalities. Multiple cytogenetic abnormalities are frequently observed in the same one patient. The total response rate, CR rate, and OS time are worse in cytogenetic abnormal patients compared with cytogenetic normal patients. Patients with 17p deletion have a very poor prognosis. Future goals of therapy will be to achieve minimal residual disease, biomarkers, and genomic data, which might provide a better estimate of the depth of response to therapy and OS.Keywords: multiple myeloma, FISH, clinical characteristics, survival time

Acute myeloid leukemia has a rare subtype in French-American-British classification as M7 or acute megakaryoblastic leukemia. Chromosome abnormalities in cases with acute megakaryoblastic leukemia can affect their prognosis. Evaluation of these abnormalities and their impact are not fully elucidated. This case presentation is about 16 months female who has a rare abnormality (trisomy 3) alongside acute megakaryoblastic leukemia. The remarkable point is that her malignancy is as primary or non-Down syndrome acute megakaryoblastic leukemia. The author's suggestion through this case presentation is the necessity of drawing a cytogenetic profile, especially in cases with acute megakaryoblastic leukemia for better treatment strategies.

The phenotypic expression in DS is determined by the type of underlying cytogenetic abnormality. Almost 90-95% cases of DS are due to pure trisomy of the 21st chromosome; 6-7% is the result of mosaicism and in only 3-5% of cases it results from Robertsonian translocation (ROB). About 1/3rd cases of unbalanced Robertsonian translocation causing DS are inherited. We report a 1-year-old-boy with DS secondary to rea(21;21) ROB.

Introduction A meta-analysis of three large randomized trials has demonstrated that len maint prolongs progression free survival (PFS) and overall survival (OS) in pts with MM who have undergone ASCT. While len maint benefits pts with both high-risk and standard-risk cytogenetics, it does not appear to provide equal magnitude of benefit to patients with high-risk cytogenetics. We conducted a retrospective analysis comparing the outcomes of pts with MM who underwent ASCT at our institution and len maint compared to no maint. We further evaluated the impact of len maint on the two cytogenetic groups. Methods We performed a retrospective analysis of 1002 consecutive pts with newly diagnosed MM who underwent ASCT at The Ohio State University between 1992 through 2016. Data were collected regarding patient demographics, disease characteristics, therapy received including maint, and clinical outcomes. Pts were excluded from the analysis if they received len combination or other drug maint therapies. High-risk cytogenetics was defined as having t(4;14), t(14;16), gain 1q, or del17p. PFS and OS were estimated using Kaplan-Meier method. Log-rank test was used to compare PFS and OS between the groups and Cox proportional hazard models were used to estimate the hazard ratios (HR). Results Pt characteristics are listed in Table 1. 484 pts (53.3%) received no maint while 423 pts (46.7%) received len maint. 245 pts (24.4%) had high-risk cytogenetics while 561 pts (56%) had standard-risk cytogenetics with the remaining unknown. Both PFS and OS were significantly better in the len maint group compared to the no maint group (Figure 1). Adjusting for pts age at transplant, cytogenetic risk, pre-transplant and post-transplant disease status, and ISS staging, the superiority in PFS and OS remained statistically significant, HR=0.50 (95% CI: 0.41-0.62), p Conclusion Consistent with previously published data, our results demonstrate an improvement in outcomes in MM pts treated with len maint following ASCT compared to no maint regardless of cytogenetic risk group. Larger studies are needed to assess the individual benefit obtained with len maint with each high-risk cytogenetic abnormality. Several trials incorporating newer drugs with novel mechanisms of action are currently being done that could further optimize maint therapy and lead to better outcomes in high-risk group.

Objectives: Session 1 of the 2013 Society for Hematopathology/European Association for Hematopathology Workshop was devoted to the cases of acute myeloid leukemia (AML) with recurrent cytogenetic abnormalities. Methods: Based on World Health Organization 2008 criteria, seven specific translocations are defined as “recurrent” in AML. Of these seven, three are considered to be AML defining regardless of blast percentage. Workshop cases provided the opportunity to consider potential new AML-defining cytogenetic mutations, as well as other unique aspects of AML with cytogenetic abnormalities. Results: Most of the 38 cases submitted were acute promyelocytic leukemia (APL) with t(15;17)(q24.1;q21.1) and so-called variants (12 cases), AML with t(8;21)(q22;q22) (seven cases), AML with inv(3)(q11q26.2) (six cases), and AML with 11q23 translocations (five cases). Conclusions: This review focuses on providing updated recommendations for the rapid diagnosis of APL, discussing the types and significance of variant RARA mutations in APL-like leukemias, and refining low-blast-count (oligoblastic) AML. In addition, the significance of unique morphologic, immunophenotypic, and genetic variations in AML defined by a recurrent cytogenetic abnormality is included.

2 Abstract: The early identification of leukemia form in cancer patients can greatly increase the likelihood of recovery. Diagnostic methods that distinguish among the disease's many forms are either costly or do not exist. Amongst the existing diagnostic methods are immune- phenotype and cytogenetic abnormality, which require time to obtain results and are costly to perform due to their requirement of well equipped laboratories. Thus, there is a need for fast and cost- effective method that results in the identification of the different leukemia forms or types. Therefore, we propose the use of digital image morphological analysis of microscopic images of leukemic blood cells for the identification purpose. We present in this paper the first phase of an automated leukemia form identification system, which is the segmentation of infected cell images. The segmentation process provides two enhanced images for each blood cell; containing the cytoplasm and the nuclei regions. Unique features for each form of leukemia can then be extracted from the two images and used for identification.

Acute myeloid leukemia (AML) with t(3;5)(q25;q34), belonging to AML with myelodysplasia related changes according to WHO classification in 2008, is a subtype of AML that is particularly rare in children. NPM1/MLF1 fusion gene produced as a result of t(3;5)(q25;q34) was cloned, however, the exact mechanism of its role in leukemogenesis has not been clarified. Although this cytogenetic abnormality is regarded as an intermediate risk factor, its clinical significance is controversial until now. More cases need to be reported and investigated, therefore we present a case of AML with t(3;5)(q25;q34) in a 14-year-old girl with literature review. pISSN 2233-5250 / eISSN 2233-4580 http://dx.doi.org/10.15264/cpho.2014.21.2.149 Clin Pediatr Hematol Oncol 2014;21:149∼152

Lenalidomide (LEN) has established a new paradigm of targeted therapy in MDS. The mechanistic underpinnings of LEN efficacy are related to the synthetic lethality of this agent through its ability to bind cereblon (CRBN). LEN induces degradation of CK1α, which is encoded by the CSNK1A1 gene located on the del(5q) CDR, whereby haploinsufficient levels of this gene allow for selective toxicity to deletion mutants. Another common cytogenetic abnormality present in patients with myeloid neoplasia (MN) is -7/del(7q). To date no selective therapies exist for -7/del(7q), an urgent unfulfilled need, given the poor prognosis associated with this cytogenetic abnormality. We were interested to explore if this same notion of selective toxicity may be possible in del(7q) myeloid patients and sought to screen drugs for this focused population. From a large cohort of patients with MN (n=3,328), we found -7/del(7q) in 10% (n=316) of patients. We first identified a signature pattern of haploinsufficient genes on -7/del(7q) based on NGS. We then searched for haploinsufficient genes which, if targeted by investigational drugs, could provide a therapeutic window for selected MN subtypes in analogy to LEN in del(5q). For the purpose of our analysis, haploinsufficient expression was defined as 97) with sensitivity levels of KG-1 in the lower μM ranges. Our analysis also identified changes in death box-RNA-helicases (DDX41, DDX24,DDX54) and DNA binding proteins (CHD3), opening the possibility that MLN4924 might lead to degradation of key proteins implicated in the pathogenesis of MDS/ AML. The therapeutic index was confirmed by the absence of toxicity to normal CD34+ cells which were unresponsive to MLN4924 because they lack the expression of NEDD8-activating enzyme (NAE) (major target of MLN4924). In contrast to normal cells, NAE is highly expressed in myeloid cancer cells. In an ongoing dose-escalation study of MLN4924 plus AZA, 1 patient with -7 had stable disease after 6 cycles of therapy and 2 patients with del(7q) achieved complete and partial remissions. In sum, we propose that MN with -7/del(7q) abnormalities might represent a patient population genetically hypersensitive to synthetic lethality by neddylation inhibitors. Disclosures Hutter: MLL Munich Leukemia Laboratory: Employment. Advani:Glycomimetics: Consultancy, Research Funding; Kite Pharmaceuticals: Consultancy; Macrogenics: Research Funding; Pfizer: Honoraria, Research Funding; Amgen: Research Funding; Abbvie: Research Funding. Kelly:Novartis, Bayer, Janssen, Pharmacyclics, Celgene, Astrazeneca, Seattle Genetics: Honoraria, Speakers Bureau; Genentech, Verastem: Consultancy; Takeda: Research Funding. Saunthararajah:Novo Nordisk: Consultancy; EpiDestiny: Consultancy, Equity Ownership, Patents & Royalties. Meggendorfer:MLL Munich Leukemia Laboratory: Employment. Sekeres:Celgene: Membership on an entity's Board of Directors or advisory committees; Millenium: Membership on an entity's Board of Directors or advisory committees; Syros: Membership on an entity's Board of Directors or advisory committees. Savona:AbbVie: Membership on an entity's Board of Directors or advisory committees; Boehringer Ingelheim: Patents & Royalties; Celgene Corporation: Membership on an entity's Board of Directors or advisory committees; Incyte Corporation: Membership on an entity's Board of Directors or advisory committees, Research Funding; Karyopharm Therapeutics: Consultancy, Equity Ownership, Membership on an entity's Board of Directors or advisory committees; Selvita: Membership on an entity's Board of Directors or advisory committees; Takeda: Membership on an entity's Board of Directors or advisory committees, Research Funding; TG Therapeutics: Membership on an entity's Board of Directors or advisory committees, Research Funding; Sunesis: Research Funding. Haferlach:MLL Munich Leukemia Laboratory: Employment, Equity Ownership. Maciejewski:Alexion: Consultancy; Novartis: Consultancy.

Identification of cytogenetic abnormalities plays an important role in the diagnosis and prognosis of leukemias. Isolated trisomy 6 is a rare abnormality, the prognostic significance of which is not well established. We report one case of acute myeloid leukemia (AML-M5 variant) with trisomy 6 as the sole cytogenetic abnormality. Previously, trisomy 6 has been reported in aplastic anemia, myelodysplastic syndrome, and AML, usually associated with hypocellular marrow. However, our patient had a very short history and hypercellular marrow infiltrated with blasts. We report this case due to the rarity of the condition. More studies are required to ascertain the role of trisomy 6 in the development of leukemia as well as in prognosis.Sitogenetik anormalliklerin tanımlanması lösemilerin tanı ve prognozunda önemli bir rol oynar. İzole trizomi 6, prognostik önemi iyi belirlenmemiş olan nadir bir anormalliktir. Tek sitogenetik anormallik olarak trizomi 6’ya sahip bir akut miyeloid lösemi (AML-M5 varyantı) olgusunu sunuyoruz. Trizomi 6 daha önce aplastik anemi, miyelodisplastik sendrom ve genellikle hiposelüler ilik ile ilişkilendirilmiş AML’de bildirilmiştir. Ancak hastamızın çok kısa bir geçmişi ve blastlar ile infiltre hiperselüler bir iliği vardı. Bu durumun nadirliği nedeni ile bu olguyu rapor ediyoruz. Hem lösemi gelişiminde trizomi 6’nın rolünü tespit etmek, hem de prognoz için daha fazla çalışma gereklidir.

Pure distal monosomy of the long arm of chromosome 10 is a rare cytogenetic abnormality. The location and size of the deletions described in this region are variable. Nevertheless, the patients share characteristic facial appearance, variable cognitive impairment and neurobehavioral manifestations. A Minimal Critical Region corresponding to a 600 kb Smallest Region of deletion Overlap (SRO) has been proposed. In this report, we describe four patients with a distal 10q26 deletion, who displayed attention-deficit/hyperactivity disorders (ADHD). One of them had a marked behavioral profile and relatively preserved cognitive functions. Interestingly, the SRO was not included in the deleted segment of this patient suggesting that this deletion could contain candidate genes involved in the control of neurobehavioral functions. One of these candidates was the CALY gene, known for its association with ADHD patients and whose expression level was shown to be correlated with neurobehavioral disturbances in varying animal models. This report emphasizes the importance of the behavioral problems as a cardinal feature of the 10q microdeletion syndrome. Haploinsufficiency of CALY could play a crucial role in the development of the behavioral troubles within these patients.

Trisomy 12 is a recurrent cytogenetic abnormality that occurs in 15–20% of Chronic Lymphocytic Leukemia (CLL).[1][1],[2][2] Within the hierarchical model proposed by Dohner et al .,[3][3] trisomy 12 CLL (tris12 CLL) carry an intermediate prognostic risk, with median overall survival (OS) and time

Embryonal tumor with multilayered rosettes (ETMR) is a new entity in the group of primitive neuroectodermal tumors of the central nervous system (CNS). It combines histopathological features of neuroblastoma and ependymoblastoma. This tumor occurs mostly in the first five years of life. A hallmark cytogenetic abnormality at the chromosome locus 19q13.42 has been identified. The authors report a case of ETMR in the parietooccipital region in a 3-year-old girl who presented with features of raised intracranial tension. The exact diagnosis could be made by the finding of true rosettes in a single low power field. ETMR is a newly described rare pediatric CNS tumor and large case studies regarding its differentiation from usual PNETs are lacking. Reporting each case with the morphological features of this tumor would add to the existing data on these tumors as regards pathology, diagnosis and management.

Chromosome/DNA instability could be one of the primary causes of malignant cell transformation. The objective of the present study was to evaluate the spontaneous genetic damages in exfoliated cells of buccal mucosa of head and neck cancer (HNC) by counting micronucleus (MN) and binucleated (BN) cells frequencies. MN and BN frequencies were significantly increased in HNC patients compared with controls (5.53 ± 3.09/1000 cells, 5.63 ± 2.99/1000 cells versus 2.36 ± 2.11/1000 cells, 3.09 ± 1.82/1000 cells,P<0.001). Regarding the gender and the age, the frequencies of the MN and BN were significantly higher than those of controls (P<0.01). The evaluation of the MN and BN frequencies revealed a significant increase (P<0.001) in the cases in relation to the control group after controlling the risk factors (tobacco smoking and chewing and occupational exposure) of HNC. Moreover, MN and BN frequencies were significantly increased in smokers and chewers compared with nonsmokers and nonchewers among patients (P<0.05). MN frequency was significantly (P=0.014) different between patients occupationally exposed (6.99 ± 3.40/1000 cells) and nonexposed (4.70 ± 2.48/1000 cells) among HNC group. The logistic regression model illustrated that HNC was significantly associated with frequencies of MN (OR = 8.63,P<0.0001) and BN (OR = 5.62,P=0.001). Our results suggest that increased chromosome/DNA instabilities may be associated with HNC.

Amyloidosis is characterized by pathological deposition of abnormal protein aggregates in various tissues, AL protein being the commonest. ALECT 2 is the newest protein described, having a predisposition to affect the kidneys, sometimes the liver and rarely other organs. We present a case of renal amyloid ALECT 2 due to leucocyte cell derived chemotaxin 2, a novel amyloidogenic protein. The patient presented with mild proteinuria, scattered plasma cells on bone marrow examination and altered kappa/lambda ratio with associated cytogenetic abnormality of der7q add(7). It is essential to correctly type this protein and differentiate it from AL during diagnosis for appropriate and effective clinical management.