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Acute myeloid leukemia: novel mutations and their clinical implications. 急性髓性白血病:新的突变及其临床意义。
American journal of blood research Pub Date : 2023-01-01
Harshita Makkar, Ravi Kumar Majhi, Harsh Goel, Aditya Kumar Gupta, Anita Chopra, Pranay Tanwar, Rachna Seth
{"title":"Acute myeloid leukemia: novel mutations and their clinical implications.","authors":"Harshita Makkar,&nbsp;Ravi Kumar Majhi,&nbsp;Harsh Goel,&nbsp;Aditya Kumar Gupta,&nbsp;Anita Chopra,&nbsp;Pranay Tanwar,&nbsp;Rachna Seth","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Acute myeloid leukemia (AML) is a heterogenous and challenging hematological malignancy with suboptimal outcomes. The implications of advanced technologies in the genetic characterization of AML have enhanced the understanding of individualized patient risk, which has also led to the development of new therapeutic strategies. A comprehensive study of novel mutations is essential to moderate the complicacies in patient management and achieve optimal outcomes in AML. In this review, we summarized the clinical relevance of important novel mutations, including <i>TET2, ETV6, SATB1, EZH2, PTPN11,</i> and <i>U2AF1</i>, which impact the prognosis of AML. <i>TET2</i> mutation can lead to DNA hypermethylation, and gene fusion, and mutation in <i>ETV6</i> disrupts hematopoietic transcription machinery, <i>SATB1</i> downregulation aggravates the disease, and <i>EZH2</i> mutation confers resistance to chemotherapy. <i>PTPN11</i> mutation influences the RAS-MAPK signaling pathway, and <i>U2AF1</i> alters the splicing of downstream mRNA. The systemic influence of these mutations has adverse consequences. Therefore, extensive research on novel mutations and their mechanism of action in the pathogenesis of AML is vital. This study lays out the perspective of expanding the apprehension about AML and novel drug targets. The combination of advanced genetic techniques, risk stratification, ongoing improvements, and innovations in treatment strategy will undoubtedly lead to improved survival outcomes in AML.</p>","PeriodicalId":7479,"journal":{"name":"American journal of blood research","volume":"13 1","pages":"12-27"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10017594/pdf/ajbr0013-0012.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9499439","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The effect of aging on the epidemiology of blood transfusions in North Khorasan province, Iran. 年龄对伊朗北呼罗珊省输血流行病学的影响。
American journal of blood research Pub Date : 2023-01-01
Hamed Mortazavi, Akbar Mohammadi, Elham Sharifian, Nima Firouzeh, Alex van Belkum, Hamed Ghasemzadeh-Moghaddam
{"title":"The effect of aging on the epidemiology of blood transfusions in North Khorasan province, Iran.","authors":"Hamed Mortazavi,&nbsp;Akbar Mohammadi,&nbsp;Elham Sharifian,&nbsp;Nima Firouzeh,&nbsp;Alex van Belkum,&nbsp;Hamed Ghasemzadeh-Moghaddam","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Purpose: </strong>Additional knowledge on the epidemiology and recipients of blood transfusions will help health-care managers to estimate the future needs. The study was performed to define the blood transfusion rate based on gender, sex, and clinical features of patients receiving blood products in all hospitals of the North Khorasan province of Iran.</p><p><strong>Methods: </strong>Data on blood transfusion implementation were extracted from blood bank documents. The data for all patients who received at least one blood product were collected from March 2018 to March 2019.</p><p><strong>Results: </strong>Among blood transfused patients, the highest transfusion rate was for packed red blood cells (PRBC) (47.7%). The two other most frequently used products were fresh frizzed plasma (FFP) (27.2%) and platelets (PLT) (21.9%). The patients in the age group of 51-80 years received the majority of PRBCs and FFPs. Patients aged 21-40 and 61-70 yrs had the highest transfusion rates for PLT. Elderly female patients (57.4%) received more blood products than their male counterparts. The highest blood transfusion rates were among patients with neoplasms, anemia, gastrointestinal bleeding, and gastric diseases.</p><p><strong>Conclusion: </strong>The primary Iranian blood recipients were elderly patients. Population aging is associated with an increase in the number of blood recipients and simultaneously declines the blood donors pool. It highlights the need for optimizing the use of blood in hospitals and having better strategies for overcoming the shortage of blood.</p>","PeriodicalId":7479,"journal":{"name":"American journal of blood research","volume":"13 1","pages":"44-52"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10017592/pdf/ajbr0013-0044.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9499440","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Higher baseline natural killer cell counts are associated with a lower 8-day blast count and lower day 33 minimal residual disease in children with pediatric B-acute lymphoblastic leukemia. 儿童b急性淋巴细胞白血病患儿较高的基线自然杀伤细胞计数与较低的8天细胞计数和较低的33天最小残留病相关。
American journal of blood research Pub Date : 2023-01-01
Nikita Sharma, Richa Gupta, Mrinalini Kotru, Sunil Gomber, Harsh Vardhan Gautam
{"title":"Higher baseline natural killer cell counts are associated with a lower 8-day blast count and lower day 33 minimal residual disease in children with pediatric B-acute lymphoblastic leukemia.","authors":"Nikita Sharma,&nbsp;Richa Gupta,&nbsp;Mrinalini Kotru,&nbsp;Sunil Gomber,&nbsp;Harsh Vardhan Gautam","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Introduction: </strong>Acute lymphoblastic leukemia (ALL) is the most common malignancy in children. Despite advancements in treatment, a significant proportion of children relapse. Recently, immunotherapy has gained momentum and is becoming popular, especially for relapsed and refractory cases. NK cells are an important part of tumor immunity and are involved in the direct killing of tumor cells. Their role in B-ALL has not been explored. Therefore, this study was conducted to correlate the number of NK cells with standard prognostic parameters in B-ALL.</p><p><strong>Methods: </strong>25 subjects with newly diagnosed B-ALL between 0-14 years were recruited for the study from Pediatric OPD or emergency of the hospital. Along with a complete hemogram and peripheral smear examination, immunophenotyping by flow cytometry was done at the time of diagnosis for NK cell enumeration. The number of NK cells was correlated with standard prognostic parameters using the spearman correlation coefficient.</p><p><strong>Results: </strong>Baseline NK cell percentage demonstrated a significant negative correlation with Prednisone poor day 8 blast response (<i>P</i> value = 0.02, r value = -0.44) and positive MRD (<i>P</i> value = 0.01, r value = -0.49) at day 33. A negative correlation was also noticed between NK cell percentage and unfavorable cytogenetics (hypodiploidy), although it was not significant (<i>P</i> value = 0.06, r value = -0.38). The number of NK cells did not correlate with age, gender and WBC count. Therefore, evaluating NK cells at diagnosis may serve as a simple and useful parameter for prognostication and risk stratification.</p><p><strong>Conclusion: </strong>It may be assumed that a higher percentage of NK cells is associated with improved outcomes and probably a better prognosis. NK numbers may serve as an early independent parameter predicting prognosis and survival in children with B-ALL, thus helping to decide individual therapeutic regimens.</p>","PeriodicalId":7479,"journal":{"name":"American journal of blood research","volume":"13 1","pages":"53-60"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10017591/pdf/ajbr0013-0053.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9515043","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Pattern and predictors of mortality among inborn and out born neonates on ventilatory support: an unmatched case-control study. 使用呼吸机支持的出生和出生新生儿死亡率的模式和预测因素:一项无与伦比的病例对照研究。
American journal of blood research Pub Date : 2023-01-01
Manoj Kumar, Swati, Bijit Biswas, Avinash Kumar, Anjali Kumari, Rajan Kumar
{"title":"Pattern and predictors of mortality among inborn and out born neonates on ventilatory support: an unmatched case-control study.","authors":"Manoj Kumar,&nbsp;Swati,&nbsp;Bijit Biswas,&nbsp;Avinash Kumar,&nbsp;Anjali Kumari,&nbsp;Rajan Kumar","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Background: </strong>Limited literature was available on the pattern and determinants of mortality among inborn neonates in comparison to the out born ones. The study's goal was to investigate the patterns and risk factors for mortality among hospitalised, on-ventilator inborn and out born neonates.</p><p><strong>Materials and methods: </strong>It was an unmatched, case-control, pilot study conducted between January and December 2020 using information retrieved from the medical records of patients attending the neonatal intensive care unit (NICU) of a tertiary healthcare facility, namely Narayan Medical College & Hospital, situated in eastern India.</p><p><strong>Results: </strong>Congenital pneumonia was the leading cause of death in inborn neonates, with an overall mortality rate of 33.4%. Meanwhile, the overall fatality rate for out born neonates was found to be 43.3%, with birth hypoxia being the most common cause. The only significant attribute affecting mortality in inborn neonates was low arterial blood gas (ABG) pH, whereas in out born neonates they were prematurity, thrombocytopenia, low ABG pO<sub>2</sub>, and high pCO<sub>2</sub>. Overall, new-borns with thrombocytopenia, low ABG pO<sub>2</sub>, and high pCO<sub>2</sub> were observed to be at higher risk for mortality compared to others.</p><p><strong>Conclusion: </strong>The mortality rate of out born neonates was higher than inborn ones. The attributes affecting mortality were observed to be prematurity, thrombocytopenia, low ABG pH, pO<sub>2</sub>, and high pCO<sub>2</sub>.</p>","PeriodicalId":7479,"journal":{"name":"American journal of blood research","volume":"13 2","pages":"71-76"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10195313/pdf/ajbr0013-0071.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9858414","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Therapy related AML in a case of chronic lymphocytic leukemia. 慢性淋巴细胞白血病治疗相关性急性髓性白血病1例。
American journal of blood research Pub Date : 2023-01-01
Smeeta Gajendra, Bhawna Jha, Rashi Sharma
{"title":"Therapy related AML in a case of chronic lymphocytic leukemia.","authors":"Smeeta Gajendra,&nbsp;Bhawna Jha,&nbsp;Rashi Sharma","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>In comparison to the general population, patients with chronic lymphocytic leukemia (CLL) are at a higher risk of developing secondary malignancies. Several factors may contribute to pathogenesis, including direct effects of chemotherapy and radiation as well as the reduction of immune surveillance. Factors influencing the increased risk include the increasing age of CLL patients, chronic antigenic stimulation, and immune impairment related to CLL or chemotherapy. Compared to patients with acute myeloid leukemia (AML) that developed from de novo, therapy-related AML (t-AML) has had a poorer outcome. The range of cytogenetic abnormalities in therapy-related AML is comparable to that in de novo AML, although these patients have a significantly higher frequency of unfavourable cytogenetics, such as a complex karyotype or a deletion or loss of chromosomes 5 and/or 7. Herein, we describe a case of therapy-related AML with monocytic differentiation and t(8;16) with a residual CLL population. The aim of the present case is to highlight rare occurrence of therapy related AML with t(8;16) in CLL after fluderabine based chemotherapy (FCR: fludarabine, cyclophosphamide, and rituximab). This case also highlights flowcytometric immunophenotyping as an ideal tool to characterize secondary AML along with the identification of minimal residual disease of CLL clone, which could have ignored at t-AML diagnosis. The pathogenesis of myeloid and lymphoid malignancies as well as their co-existence can be studied by focusing on such patients. Factors predisposing to the development of t-AML should be studied further, which would help in monitoring these patients more carefully.</p>","PeriodicalId":7479,"journal":{"name":"American journal of blood research","volume":"13 2","pages":"77-83"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10195314/pdf/ajbr0013-0077.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9858415","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Expression of long non-coding RNA UCA1 and its clinical relevance in paediatric acute myeloid leukemia. 长链非编码RNA UCA1在小儿急性髓性白血病中的表达及其临床意义。
American journal of blood research Pub Date : 2023-01-01
Christine Wilson, Diwakar Sharma, Priyanka Swaroop, Sachin Kumar, Sameer Bakhshi, Surender K Sharawat
{"title":"Expression of long non-coding RNA UCA1 and its clinical relevance in paediatric acute myeloid leukemia.","authors":"Christine Wilson,&nbsp;Diwakar Sharma,&nbsp;Priyanka Swaroop,&nbsp;Sachin Kumar,&nbsp;Sameer Bakhshi,&nbsp;Surender K Sharawat","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The underlying mechanisms and clinical significance of long non-coding RNA (lncRNA) urothelial cancer associated 1 (UCA1) is largely unknown in acute myeloid leukemia (AML). We aimed to study the expression of lncRNA UCA1, and its biological and clinical relevance in AML. Expression of lncRNA UCA1 was quantified in peripheral blood (PB) samples of children with <i>de novo</i> AML (n=69), post-induction, after achieving complete remission (CR) (n=8), and in patients who had relapsed (n=10). Additionally, two external cohorts were analysed i.e., TCGA-LAML dataset and Leukemia-MILE study. We also quantified expression in four different AML cell lines and analysed expression after cell differentiation. A consistent pattern of low UCA1 expression in AML was observed in our cohort of sixty-nine patients at baseline (P < 0.0001) and in the TCGA and Leukemia-MILE datasets. In patients who achieved remission, expression was comparable to healthy individuals, while relapsed patients interestingly had lower levels of UCA1 (P=0.0002). Furthermore, lncRNA UCA1 expression was significantly lower in AML cell lines (THP-1, P=0.0112; KG-1, P=0.0168; and HL-60, P=0.0112) and increased when THP-1 cells were differentiated (P=0.0001). In our AML patient cohort, lower expression was significantly associated with CR (P=0.043), however, the impact on survival (EFS and OS) was not significant. This is the first study wherein the lncRNA UCA1 expression was studied in various AML cell lines along with AML patients at baseline, remission and relapse. In conclusion, we found that UCA1 is significantly downregulated in AML compared to healthy individuals and mature differentiated cells.</p>","PeriodicalId":7479,"journal":{"name":"American journal of blood research","volume":"13 3","pages":"84-93"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10349294/pdf/ajbr0013-0084.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10182933","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Cytomorphological evaluation of non-haematopoietic malignancies metastasizing to the bone marrow. 转移到骨髓的非造血恶性肿瘤的细胞形态学评价。
American journal of blood research Pub Date : 2023-01-01
Smeeta Gajendra, Rashi Sharma
{"title":"Cytomorphological evaluation of non-haematopoietic malignancies metastasizing to the bone marrow.","authors":"Smeeta Gajendra,&nbsp;Rashi Sharma","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Bone marrow (BM) is one of the rare but important site of metastasis of solid tumors. The key steps of metastasis include invasion, intravasation, circulation, extravasation, and colonization. Tumor cells may express some adhesion molecules that promote the transmigration to the marrow space and link them to the marrow stroma with subsequent engraftment. It is important to detect the bone marrow metastasis for initial clinical staging, therapeutic selection, prognostic risk stratification, assessment of response to therapy and predicting relapse. Prognosis of non-hematopoietic malignancies with BM metastasis is dismal. Due to occulting and atypical clinical manifestations, bone marrow metastases can be easily missed or misdiagnosed, leading to higher mortality rates. The important factors on which the prognosis of patients with bone marrow metastases depends are primary tumor site, performance status, platelet count, and therapeutic regimens (systemic chemotherapy or palliative/supportive care). Further, in cases with BM metastasis with unknown primary sites, misdiagnosis can lead to delayed initiation of therapy and increased mortality. BM metastasis is seen in less than 10% of patients with metastatic cancer and is common in lung, breast or prostate carcinoma. Bone marrow metastasis can be presented as the initial presentation with hematological changes and may be misdiagnosed as a primary haematopoietic disorder. Leucoerythoblastic blood picture is the most common peripheral blood smear finding indicating BM metastasis, may be an indicator of associated BM fibrosis. Bone marrow aspiration and biopsy with immunohistochemistry (IHC) is an easy, cost effective and gold standard method of detection of BM metastasis. BM biopsy is superior to bone marrow aspirate for detection of metastasis. Morphology of metastatic cells is as per the primary site of tumor. Immunohistochemistry is a useful adjunct to morphology in reaching a definitive diagnosis even in case with carcinoma unknown primary (CUP) and also in diagnosing case of unsuspected malignancies. Though bone marrow is not among the most common site of involvement in CUP, which are liver, bone, lymph nodes and lung. But BM, if involved, the site of origin is determined using the immunohistochemistry panel applied to the metastatic deposits based on the morphology The aim of the review is to discuss the hematological findings of non-haematopoietic malignancies metastasizing to the bone marrow, emphasizing on histomorphology with IHC and its significance in establishing primary diagnosis in clinically unsuspected cases.</p>","PeriodicalId":7479,"journal":{"name":"American journal of blood research","volume":"13 1","pages":"1-11"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10017595/pdf/ajbr0013-0001.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9499441","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Low-grade B cell lymphoma in the perirenal space of the left kidney associated with high titer cold agglutinin disease. 左肾肾周间隙低级别B细胞淋巴瘤与高滴度冷凝集素病相关
American journal of blood research Pub Date : 2023-01-01
Takashi Miyoshi, Tomoya Masada, Fumihiko Kono, Shinsaku Imashuku
{"title":"Low-grade B cell lymphoma in the perirenal space of the left kidney associated with high titer cold agglutinin disease.","authors":"Takashi Miyoshi,&nbsp;Tomoya Masada,&nbsp;Fumihiko Kono,&nbsp;Shinsaku Imashuku","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Cold agglutinin disease (CAD) is a subgroup of autoimmune hemolytic anemia caused by monoclonal cold agglutinins produced by clonally expanded B lymphocytes. In primary CAD, lymphoproliferative bone marrow disorder is noted, while as one of the secondary cold agglutinin syndromes (CAS), the initial manifestation of CAD is followed by development of lymphoma. Here, we report a case of low-grade B cell lymphoma developed 3 months after an initial CAD diagnosis. The patient had an extremely high serum cold agglutinin titer (1:16,384) and slightly elevated serum IgM (452 mg/dL; reference, 31-200) with positive monoclonal IgM-kappa chain. After diagnosis of lymphoma-associated CAS, he was managed successfully with six cycles of a BR (bendamustine and rituximab) regimen. Cold agglutinin titers fell rapidly to 1:2048 at 5 months and to 1:512 at 10 months after chemotherapy, and the patient has been in a complete remission for 34 months.</p>","PeriodicalId":7479,"journal":{"name":"American journal of blood research","volume":"13 3","pages":"104-109"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10349293/pdf/ajbr0013-0104.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10182936","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A comprehensive analysis of cytogenetics, molecular profile, and survival among pediatric acute myeloid leukemia: a prospective study from a tertiary referral center. 全面分析小儿急性髓性白血病的细胞遗传学、分子特征和存活率:一项来自三级转诊中心的前瞻性研究。
American journal of blood research Pub Date : 2022-12-15 eCollection Date: 2022-01-01
Jagdish Prasad Meena, Harshita Makkar, Aditya Kumar Gupta, Sameer Bakhshi, Ritu Gupta, Deepshi Thakral, Anita Chopra, Pranay Tanwar, Ashish Datt Upadhyay, Nivedita Pathak, Rachna Seth
{"title":"A comprehensive analysis of cytogenetics, molecular profile, and survival among pediatric acute myeloid leukemia: a prospective study from a tertiary referral center.","authors":"Jagdish Prasad Meena, Harshita Makkar, Aditya Kumar Gupta, Sameer Bakhshi, Ritu Gupta, Deepshi Thakral, Anita Chopra, Pranay Tanwar, Ashish Datt Upadhyay, Nivedita Pathak, Rachna Seth","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Background and aims: </strong>The objectives of this study were to investigate the cyto-molecular profile and survival of pediatric acute myeloid leukemia (AML).</p><p><strong>Methods: </strong>This prospective study was carried out in a tertiary care hospital from October 2018 to December 2020. Karyotype and cytogenetics analyses were done to identify chromosomal aberrations in pediatric AML. The targeted molecular panel utilized the polymerase chain reaction (PCR), reverse transcription-polymerase chain reaction (RT-PCR), and fragment analysis.</p><p><strong>Results: </strong>A total of 70 patients of AML with aged ≤18 years were enrolled in this study. The cytogenetic analyses revealed abnormal/recurrent cytogenetic abnormalities (CA) in 64.3% of patients and normal cytogenetics (CN) in 35.7% of patients. FAB M2 subtype showed frequent aberrant expression of the CD19 marker. CD7, CD11b, and CD36a were significantly present in the absence of molecular markers. Common chromosomal abnormalities were t(translocation) (8;21) (55%), monosomy/deletion 7 (13%), monosomal karyotype (5%) and complex karyotype (3%). The fusion transcripts <i>RUNX1-RUNX1T1</i> [t(8;21)] (41%) and <i>CBFB-MYH11</i> [t(16;16)] (3%) were detected by RT-PCR and FLT3-TKD D835 mutation (1.5%) by allele-specific oligo PCR. Fragment analysis revealed NPM1 (8%) mutation and FLT-ITD (9.5%) mutations. Complete remission was achieved in all evaluable patients. The median follow-up period of our patients was 225 days (IQR 28; 426 days). The median event-free survival (EFS) in all patients was 11.9 months (95% CI, 5-12.6 months). The forty months overall survival probability (pOS) was 58% in all patients.</p><p><strong>Conclusion: </strong>The majority of patients had abnormal/recurrent cytogenetics abnormalities. FAB M2 subtype showed frequent aberrant expression of the CD19. The absence of molecular markers may suggest the presence of CD7, CD11b, and CD36a expression. The overall survival has increased considerably in LMIC.</p>","PeriodicalId":7479,"journal":{"name":"American journal of blood research","volume":"12 6","pages":"177-189"},"PeriodicalIF":0.0,"publicationDate":"2022-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9890188/pdf/ajbr0012-0177.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9230213","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Hypocellular AML versus MDS-diagnostic challenge case report with review of literature. 低细胞AML与mds诊断挑战病例报告及文献回顾。
American journal of blood research Pub Date : 2022-10-15 eCollection Date: 2022-01-01
Ravi Jacob, Himanshu Dhanda, Sartaj Ali, Pooja Gupta, Sandeep Rai, Bhavika Rishi, Aroonima Misra
{"title":"Hypocellular AML versus MDS-diagnostic challenge case report with review of literature.","authors":"Ravi Jacob,&nbsp;Himanshu Dhanda,&nbsp;Sartaj Ali,&nbsp;Pooja Gupta,&nbsp;Sandeep Rai,&nbsp;Bhavika Rishi,&nbsp;Aroonima Misra","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Hypocellular AML being a rare entity with considerable overlapping features and characteristics with various other entities brings a need to have a better and clear understanding of hypocellular AML to differentiate in the decision-making process for therapeutic patient management. With some degree of dysplasia inherently associated with AML it is challenging to differentiate hypocellular AML from Myelodysplastic syndromes. We present a case report where the diagnostic dilemma in an elderly male patient who presented with fever, pallor, weight loss and fatiguability. On clinical examination, the patient had hepatomegaly. The patient was non-affording and was hence given supportive treatment, and he died soon after. Here the diagnostic dilemma is discussed along with the review of literature on hypocellular AML. A better and clear understanding of hypocellular AML is required to differentiate it from other entities due to the considerable overlap in presentation hence improving the decision-making process for therapeutic patient management. The shortcomings are realised, especially when the bone marrow cellularity is less than 10%. Our case report is written to enrich more understanding of the limited published literature on the subject.</p>","PeriodicalId":7479,"journal":{"name":"American journal of blood research","volume":"12 5","pages":"172-176"},"PeriodicalIF":0.0,"publicationDate":"2022-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9677182/pdf/ajbr0012-0172.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40703258","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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