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[PMID]: 29506540
[Au] Autor:Kromann AB; Ousager LB; Ali IKM; Aydemir N; Bygum A
[Ad] Address:Department of Dermatology and Allergy Centre, J.B. Winsløws Vej 4 , Entrance 142, 5000, Odense C, Denmark.
[Ti] Title:Pigmentary mosaicism: a review of original literature and recommendations for future handling.
[So] Source:Orphanet J Rare Dis;13(1):39, 2018 Mar 05.
[Is] ISSN:1750-1172
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Pigmentary mosaicism is a term that describes varied patterns of pigmentation in the skin caused by genetic heterogeneity of the skin cells. In a substantial number of cases, pigmentary mosaicism is observed alongside extracutaneous abnormalities typically involving the central nervous system and the musculoskeletal system. We have compiled information on previous cases of pigmentary mosaicism aiming to optimize the handling of patients with this condition. Our study is based on a database search in PubMed containing papers written in English, published between January 1985 and April 2017. The search yielded 174 relevant and original articles, detailing a total number of 651 patients. RESULTS: Forty-three percent of the patients exhibited hyperpigmentation, 50% exhibited hypopigmentation, and 7% exhibited a combination of hyperpigmentation and hypopigmentation. Fifty-six percent exhibited extracutaneous manifestations. The presence of extracutaneous manifestations in each subgroup varied: 32% in patients with hyperpigmentation, 73% in patients with hypopigmentation, and 83% in patients with combined hyperpigmentation and hypopigmentation. Cytogenetic analyses were performed in 40% of the patients: peripheral blood lymphocytes were analysed in 48%, skin fibroblasts in 5%, and both analyses were performed in 40%. In the remaining 7% the analysed cell type was not specified. Forty-two percent of the tested patients exhibited an abnormal karyotype; 84% of those presented a mosaic state and 16% presented a non-mosaic structural or numerical abnormality. In patients with extracutaneous manifestations, 43% of the cytogenetically tested patients exhibited an abnormal karyotype. In patients without extracutaneous manifestations, 32% of the cytogenetically tested patients exhibited an abnormal karyotype. CONCLUSION: We recommend a uniform parlance when describing the clinical picture of pigmentary mosaicism. Based on the results found in this review, we recommend that patients with pigmentary mosaicism undergo physical examination, highlighting with Wood's light, and karyotyping from peripheral blood lymphocytes and skin fibroblasts. It is important that both patients with and without extracutaneous manifestations are tested cytogenetically, as the frequency of abnormal karyotype in the two groups seems comparable. According to the results only a minor part of patients, especially those without extracutaneous manifestations, are tested today reflecting a need for change in clinical practice.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1803
[Cu] Class update date: 180311
[Lr] Last revision date:180311
[St] Status:In-Data-Review
[do] DOI:10.1186/s13023-018-0778-6

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[PMID]: 29401553
[Au] Autor:Jung HA; Jang MA; Kim K; Kim SH
[Ad] Address:Division of Hematology-Oncology, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
[Ti] Title:Clinical Utility of a Diagnostic Approach to Detect Genetic Abnormalities in Multiple Myeloma: A Single Institution Experience.
[So] Source:Ann Lab Med;38(3):196-203, 2018 May.
[Is] ISSN:2234-3814
[Cp] Country of publication:Korea (South)
[La] Language:eng
[Ab] Abstract:BACKGROUND: The identification of genetic abnormalities in patients with multiple myeloma (MM) has gained emphasis because genetics-based risk stratification significantly affects overall survival (OS). We investigated genetic abnormalities using conventional cytogenetics and FISH and analyzed the prognostic significance of the identified additional abnormalities in MM. METHODS: In total, 267 bone marrow samples were collected from February 2006 to November 2013 from patients who were newly diagnosed as having MM in a tertiary-care hospital in Korea. The clinical and laboratory data were retrospectively obtained. Cox proportional hazard regression was used to examine the relationship between clinical/genetic factors and survival outcome, using univariate and multivariate models. RESULTS: Using conventional cytogenetic analysis and FISH, 45% (120/267) and 69% (183/267) patients, respectively, were identified to harbor genetic abnormalities. In the univariate analysis, the following genetic variables were identified to affect OS: abnormal karyotype (P<0.001), aneuploidy (P=0.046), -13 or del(13q) (P=0.002), 1q amplification (P<0.001), and t(4;14) (P=0.020). In the multivariate analysis, the presence of -13 or del(13q) was the only significant genetic factor affecting OS (P=0.012) with a hazard ratio (HR) of 2.131 (95% confidence interval [CI], 1.185-3.832) in addition to the clinical factor of age (>65 years) (P=0.013) with an HR of 2.505 (95% CI, 1.218-5.151). CONCLUSIONS: Our findings highlight the importance of applying a comprehensive approach for detecting genetic abnormalities, which could be closely associated with the prognostic significance of MM.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:In-Process
[do] DOI:10.3343/alm.2018.38.3.196

  3 / 6671 MEDLINE  
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[PMID]: 29401475
[Au] Autor:Toliczenko-Bernatowicz D; Matuszczak E; Tylicka M; Szymanska B; Komarowska M; Gorodkiewicz E; Debek W; Hermanowicz A
[Ad] Address:Paediatric Surgery Department,Medical University of Bialystok, Bialystok, Poland.
[Ti] Title:Overexpression of ubiquitin carboxyl-terminal hydrolase 1 (UCHL1) in boys with cryptorchidism.
[So] Source:PLoS One;13(2):e0191806, 2018.
[Is] ISSN:1932-6203
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BACKGROUND: The ubiquitin-proteasome system regulate p53, caspase and Bcl-2 family proteins, and is crucial for the degradation of the defective germ cells in testes. Purpose: to evaluate the concentration of ubiquitin carboxyl-terminal hydrolase 1 (UCHL1) in the blood plasma of boys with cryptorchidism and if there is any correlation with patient age. METHODS: Patients-50 boys aged 1-4 years (median = 2,4y.) with unilateral cryptorchidism. Exclusion criteria were: previous human chorionic gonadotropin treatment, an abnormal karyotype, endocrine or immunological disorders or any long-term medication. The control group-50 healthy, age matched boys (aged 1-4 years, median = 2,1y.), admitted to the Pediatric Surgery Department for planned herniotomy. To investigate UCHL1 in blood plasma of boys with cryptorchidism, we used a novel technique Surface PLASMON RESONANCE Imaging (SPRI). RESULTS: The median concentration of UCHL1 in the blood plasma of boys with cryptorchidism, was 5-folds higher than in boys with inguinal hernia, whose testicles were located in the scrotum. We also noticed statistically significant difference between UCHL1 levels in boys with cryptorchidism up to 2 years old, and above 2 years old. Older boys, whose testicles since birth were located in the inguinal pouch or in the abdominal cavity, had higher concentration of UCHL1 in their blood plasma, than boys from younger group. In the group of cryptorchid boys, we also found slightly lower concentrations of INSL3, without statistical significance and no correlation with UCHL1 levels. CONCLUSIONS: Uchl1 concentrations in the blood plasma of boys with cryptorchidism, may reflect the heat-induced apoptosis of germ cells. Higher UCHL1 concentrations in older boys with undescended testicles, probably express intensity of germ cell apoptosis, more extensive when testicles are subjected to heat-stress for longer period. Further analyses of UCHL1 may help to elucidate its role in mechanisms influencing spermatogenesis.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180305
[Lr] Last revision date:180305
[St] Status:In-Process
[do] DOI:10.1371/journal.pone.0191806

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[PMID]: 29487873
[Au] Autor:Bodin CR; Rasmussen MM; Tabor A; Westbom L; Tiblad E; Ekelund CK; Wulff CB; Vogel I; Petersen OB
[Ad] Address:Department of Gynecology and Obstetrics, Aarhus University Hospital, Aarhus, Denmark.
[Ti] Title:Ultrasound in Prenatal Diagnostics and Its Impact on the Epidemiology of Spina Bifida in a National Cohort from Denmark with a Comparison to Sweden.
[So] Source:Biomed Res Int;2018:9203985, 2018.
[Is] ISSN:2314-6141
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Objectives: The aim of this study was to assess the incidence, the prenatal detection rate by ultrasound, and the pregnancy outcome of spina bifida (SB) in Denmark (DK) in 2008-2015 and to compare results to national data from Sweden. Methods: Data were retrieved from the Danish Fetal Medicine Database, which includes International Classification of Diseases- (ICD-) 10 codes for pre- or postnatally diagnoses and pregnancy outcome. Missing data were obtained from the National Patient Register. Livebirth data with myelomeningocele (MMC) in Sweden were obtained from different databases. Results: There were 234 cases with SB in DK in 2008-2015. The incidence of SB was 4.9 : 10,000; 89% were detected with ultrasound prior to week 22; 90% of these pregnancies were terminated (ToP); 91% were isolated malformations of which 11% showed abnormal karyotype. The incidence of newborns with MMC was 1.3 : 10,000 in Sweden. Conclusions: Ultrasound screening has a major impact on the epidemiology of SB. The prenatal detection rate of SB was high, and most SB cases were isolated and had a normal karyotype. Among women with a prenatal fetal diagnosis of SB, 90% chose to have ToP. The incidence of newborns with SB was higher in Sweden than in DK.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180304
[Lr] Last revision date:180304
[St] Status:In-Process
[do] DOI:10.1155/2018/9203985

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[PMID]: 29356709
[Au] Autor:Wang Y; Hu P; Xu Z
[Ad] Address:Department of Prenatal Diagnosis, State Key Laboratory of Reproductive Medicine, The Affiliated Obstetrics and Gynecology Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, Jiangsu Province, China.
[Ti] Title:Copy number variations and fetal ventriculomegaly.
[So] Source:Curr Opin Obstet Gynecol;30(2):104-110, 2018 Apr.
[Is] ISSN:1473-656X
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:PURPOSE OF REVIEW: Ventriculomegaly is one of the most common abnormal sonographic findings, which is associated with congenital infection, chromosomal and additional structural abnormalities. Currently, karyotype analysis is the primary method to detect chromosomal abnormalities in fetuses with ventriculomegaly. Recently, with the introduction of chromosomal microarray analysis (CMA) in prenatal diagnosis, copy number variations (CNVs) have been identified in cases of ventriculomegaly. The purpose of this review is to summarize the current knowledge about the genetic cause of fetal ventriculomegaly, with particular attention to primary articles regarding the association between CNVs and fetal ventriculomegaly. RECENT FINDINGS: Recent studies have disclosed that in addition to numerical chromosomal abnormalities and large chromosomal imbalances, pathogenic CNVs are another important genetic cause of fetal ventriculomegaly, which may be involved in the pathological process of fetal ventriculomegaly as well as postnatal neurodevelopmental disorders. Furthermore, it is reported that the incidences of pathogenic CNVs in fetuses with ventriculomegaly were associated with the presence of other structural anomalies, but were irrelevant to the severity of ventriculomegaly. SUMMARY: CNVs are an important cause of fetal ventriculomegaly and CMA should be offered to all fetuses with ventriculomegaly, regardless of the degree of ventriculomegaly or whether combined with other structural anomalies.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180228
[Lr] Last revision date:180228
[St] Status:In-Data-Review
[do] DOI:10.1097/GCO.0000000000000439

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[PMID]: 29483496
[Au] Autor:Andreieva SV; Korets KV; Ruzhinska OE; Skorokhod IM; Alkhimova OG
[Ad] Address:State Institution «Institute of Haematology and Transfusiology of NAMS of Ukraine¼, Kyiv 04060, Ukraine.
[Ti] Title:Comparison of chromosomal rearrangements in bone marrow cells and blast transformed B-cells in relapse of B-cell chronic lymphocytic leukemia/small lymphocytic lymphoma.
[So] Source:Exp Oncol;39(2):141-144, 2017 Jul.
[Is] ISSN:1812-9269
[Cp] Country of publication:Ukraine
[La] Language:eng
[Ab] Abstract:AIM: The genetic mechanisms of resistance to chemotherapy in B-cell chronic lymphocytic leukemia/small lymphocytic lymphoma (B-CLL/SLL) are not clear. We aimed to determine the peculiarities of abnormal karyotype formation in bone marrow (BM) cells and peripheral blood (PB) blast transformed B-cells in relapse of B-CLL/SLL. MATERIALS AND METHODS: Cytogenetic GTG banding technique and molecular cytogenetic in interphase cells (i-FISH) studies of BM cells and PB blast transformed B-lymphocytes were performed in 14 patients (10 males and 4 females) with B-CLL/SLL. RESULTS: The results of karyotyping BM and PB cells revealed the heterogeneity of cytogenetic abnormalities in combined single nosological group of B-CLL/SLL. In PB B-cells, chromosome abnormalities related to a poor prognosis group were registered 2.5 times more often than in BM cells. Additional near tetraploid clones that occurred in 57.1% cases were the peculiar feature of BM cell karyotypes. Chromosomal rearrangements characteristic of the group of adverse cytogenetic prognosis were revealed in all cases from which in 2 cases by karyotyping BM cells, in 6 cases in PB B-cells and in 8 cases by the i-FISH method in BM cells, i.e. their detection frequency was 3 times higher in PB B-cells and 4 times higher when analyzing by i-FISH in BM cells. CONCLUSIONS: Mismatch in abnormal karyotypes in BM and PB B-cells by the presence of quantitative and structural chromosomal rearrangements may be indicative of simultaneous and independent processes of abnormal clone formation in the lymph nodes and BM hematopoietic cells. Accumulation the information about previously unidentified chromosomal rearrangements in relapse of the disease may help to understand the ways of resistance formation to chemotherapy.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180227
[Lr] Last revision date:180227
[St] Status:In-Process

  7 / 6671 MEDLINE  
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[PMID]: 29275363
[Au] Autor:Panagopoulos I; Gorunova L; Andersen K; Lobmaier I; Bjerkehagen B; Heim S
[Ad] Address:Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway ioannis.panagopoulos@rr-research.no.
[Ti] Title:Consistent Involvement of Chromosome 13 in Angiolipoma.
[So] Source:Cancer Genomics Proteomics;15(1):61-65, 2018 Jan-Feb.
[Is] ISSN:1790-6245
[Cp] Country of publication:Greece
[La] Language:eng
[Ab] Abstract:BACKGROUND/AIM: Angiolipoma is a rare benign soft tissue tumor composed of mature adipocytes and blood vessels. Genetic information on angiolipomas is scarce. With the single exception of one tumor which carried a t(X;2)(p22;p12), all angiolipomas hitherto investigated cytogenetically had normal karyotypes. MATERIALS AND METHODS: G-banding chromosome analysis was performed on three short-term cultured angiolipomas. Fluorescence in situ hybridization (FISH) analysis using a commercially available RB1 deletion probe was also done. RESULTS: All three angiolipomas had abnormal karyotypes with loss or structural rearrangement of chromosome 13. The first tumor had the karyotype 46,XY,-6,del(13)(q14),+mar[cp5], the second had 44~45,XY,t(1;10;15)(p21~22;q24;q24),-13[cp5], and the third karyotype was 43,XX,t(13;22;17) (q12;q13; q22~23)[14]. FISH analysis showed heterozygous and homozygous deletion of the RB1 probe in case 2 and 3, respectively. FISH analysis failed in case 1. CONCLUSION: Chromosome 13 was consistently involved in all three angiolipomas.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180227
[Lr] Last revision date:180227
[St] Status:In-Process

  8 / 6671 MEDLINE  
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[PMID]: 28452257
[Au] Autor:Boddu PC; Kadia TM
[Ad] Address:a Department of Leukemia , The University of Texas MD Anderson Cancer Center , Houston , TX , USA.
[Ti] Title:Updates on the pathophysiology and treatment of aplastic anemia: a comprehensive review.
[So] Source:Expert Rev Hematol;10(5):433-448, 2017 05.
[Is] ISSN:1747-4094
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:INTRODUCTION: The past decade or longer has witnessed an acceleration in our understanding of previously developed immune system and clonal evolution mechanisms, and the genesis of more novel concepts of telomere attrition. Many of these concepts are steadily finding their way into translation in various aspects of clinical practice, and provide prospects to improve AA management and inform therapeutic strategy development. In this review, we intend to discuss the pathophysiology and treatments with an emphasis on most recent developments to provide an update on our understanding of disease mechanisms. Areas covered: A literature search was undertaken addressing various aspects of pathophysiology with a focus on the role of immune system repertoire, telomeres and mutational events surrounding AA. We also reviewed upon the temporal evolution of treatment strategies in AA to the contemporary management of today and commented briefly upon the more recently investigated novel therapies and their expanding niche especially in the transplant and salvage setting. Expert commentary: Immune-mediated destruction of hematopoietic stem and progenitor cells, leading to a marrow devoid of hematopoietic elements, and peripheral pancytopenia are the hallmarks of AA. Recent studies have shed light on another facet of the disease - as a clonal disorder characterized by karyotypic abnormalities, genomic instability, telomere attrition, and recurrent somatic mutations reminiscent of myeloid malignancies. Further understanding of this underlying pathophysiology can help in improving prognostication and treatment of this disease.
[Mh] MeSH terms primary: Anemia, Aplastic
[Mh] MeSH terms secundary: Abnormal Karyotype
Anemia, Aplastic/genetics
Anemia, Aplastic/metabolism
Anemia, Aplastic/physiopathology
Anemia, Aplastic/therapy
Genomic Instability
Hematopoietic Stem Cells/metabolism
Humans
Telomere/genetics
Telomere/metabolism
[Pt] Publication type:JOURNAL ARTICLE; REVIEW; RESEARCH SUPPORT, N.I.H., EXTRAMURAL
[Em] Entry month:1706
[Cu] Class update date: 180225
[Lr] Last revision date:180225
[Js] Journal subset:IM
[Da] Date of entry for processing:170429
[St] Status:MEDLINE
[do] DOI:10.1080/17474086.2017.1313700

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[PMID]: 29265181
[Au] Autor:Horai M; Satoh S; Matsuo M; Iwanaga M; Horio K; Jo T; Takasaki Y; Kawaguchi Y; Tsushima H; Yoshida S; Taguchi M; Itonaga H; Sawayama Y; Taguchi J; Imaizumi Y; Hata T; Moriuchi Y; Haase D; Yoshiura KI; Miyazaki Y
[Ad] Address:Department of Haematology, Atomic Bomb Disease and Hibakusha Medicine Unit, Atomic Bomb Disease Institute, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
[Ti] Title:Chromosomal analysis of myelodysplastic syndromes among atomic bomb survivors in Nagasaki.
[So] Source:Br J Haematol;180(3):381-390, 2018 02.
[Is] ISSN:1365-2141
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:The myelodysplastic syndromes (MDS) are clonal haematopoietic disorders that develop de novo and also secondary to chemotherapy and/or radiation therapy. We previously demonstrated that the risk of MDS is increased among atomic bomb survivors with significant correlation to radiation dose; however, the clinical characteristics of these survivors have not been well analysed. In this study, we investigated chromosomal abnormalities of MDS among survivors. The frequency of abnormal karyotypes was significantly higher, with more very poor risk karyotypes, according to the revised International Prognostic Scoring System, among those exposed close to the hypocentre compared with unexposed cases. However, abnormal karyotype frequency did not reflect the prognosis of exposed cases with respect to distance from the hypocentre. In addition, there was no difference in prognosis between exposed and unexposed cases. Among proximally exposed cases (<1·5 km from the hypocentre), chromosomal translocations and inversions were more frequent, and the frequency of structural alterations in chromosomes 3, 8, and 11 was significantly increased compared with unexposed cases. These results suggest that chromosomal alterations in MDS among survivors have different features compared with those in de novo or therapy-related MDS. Detailed molecular study is warranted.
[Mh] MeSH terms primary: Chromosome Aberrations
Disaster Victims
Myelodysplastic Syndromes/epidemiology
Myelodysplastic Syndromes/genetics
Nuclear Weapons
Survivors
[Mh] MeSH terms secundary: Adult
Aged
Aged, 80 and over
Blood Cell Count
Bone Marrow/pathology
Cytogenetic Analysis
Female
Humans
Japan/epidemiology
Male
Middle Aged
Myelodysplastic Syndromes/diagnosis
Myelodysplastic Syndromes/therapy
Patient Outcome Assessment
Registries
Survival Analysis
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Entry month:1802
[Cu] Class update date: 180222
[Lr] Last revision date:180222
[Js] Journal subset:IM
[Da] Date of entry for processing:171222
[St] Status:MEDLINE
[do] DOI:10.1111/bjh.15050

  10 / 6671 MEDLINE  
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[PMID]: 29458385
[Au] Autor:Zheng Y; Nong L; Liang L; Wang W; Li T
[Ad] Address:Department of Pathology, Peking University First Hospital, 8 Xishiku Street, Xicheng District, Beijing, 100034, China.
[Ti] Title:De novo mast cell leukemia without CD25 expression and KIT mutations: a rare case report in a 13-year-old child.
[So] Source:Diagn Pathol;13(1):14, 2018 Feb 20.
[Is] ISSN:1746-1596
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Mast cell leukemia (MCL) is a very rare form of systemic mastocytosis (SM) and accounts for less than 0.5% of all mastocytosis. The diagnosis of MCL requires the presence of SM criteria, accompanied by leukemic infiltrating of atypical mast cells (MCs) in bone marrow (BM), peripheral blood as well as extracutaneous organs. MCL is a fatal disease that almost always behaves aggressively, and the median survival time is only about six months. Herein, we present a rare case of de novo MCL without CD25 expression and KIT mutations. CASE PRESENTATION: A previously healthy 13-year-old boy was referred to our hospital due to incidental discovery of an enlarged right tonsil. Diffuse infiltration of medium-sized hematopoietic blasts was found in his right tonsil, BM and multiple lymph nodes. The neoplastic cell population was subsequently revealed to exhibit differentiation towards the mast cell lineage by expressing CD117 and tryptase, but the cell population lacked expression of CD25/CD2 and the activating mutation of the KIT gene. An abnormal karyotype was identified, but no leukemia-associated fusion genes were found. Involvement of peripheral blood, bone and lung was subsequently demonstrated. The most important differential diagnosis included tryptase-positive (T+) acute myeloid leukemia, myelomastocytic leukemia and basophilic leukemia. The morphological characteristics and infiltrating patterns of the abnormal MCs supported the final diagnosis of MCL. Although intensive chemotherapy and allogeneic stem cell transplants were performed on the patient, he died 18 months after initial presentation. CONCLUSION: Due to its rarity, the diagnosis of MCL without typical immunophenotype and genetic aberrations is particularly challenging. Comprehensive investigation of clinical and pathological features to exclude other T+ myeloid neoplasms is necessary.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180222
[Lr] Last revision date:180222
[St] Status:In-Process
[do] DOI:10.1186/s13000-018-0691-2


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