RESUMEN
Abstract Background Increased malignancy frequency is well documented in adult-systemic lupus erythematosus (SLE), but with limited reports in childhood-onset SLE (cSLE) series. We explored the frequency of malignancy associated with cSLE, describing clinical and demographic characteristics, disease activity and cumulative damage, by the time of malignancy diagnosis. Method A retrospective case-notes review, in a nationwide cohort from 27 Pediatric Rheumatology centres, with descriptive biopsy-proven malignancy, disease activity/damage accrual, and immunosuppressive treatment were compiled in each participating centre, using a standard protocol. Results Of the 1757 cSLE cases in the updated cohort, 12 (0.7%) developed malignancy with median time 10 years after cSLE diagnosis. There were 91% females, median age at cSLE diagnosis 12 years, median age at malignancy diagnosis 23 years. Of all diagnosed malignancies, 11 were single-site, and a single case with concomitant multiple sites; four had haematological (0.22%) and 8 solid malignancy (0.45%). Median (min-max) SLEDAI-2 K scores were 9 (0-38), median (min-max) SLICC/ACR-DI (SDI) score were 1 (1-5) Histopathology defined 1 Hodgkin's lymphoma, 2 non-Hodgkin's lymphoma, 1 acute lymphoblastic leukaemia; 4 gastrointestinal carcinoma, 1 squamous cell carcinoma of the tongue and 1 anal carcinoma; 1 had sigmoid adenocarcinoma and 1 stomach carcinoid; 3 had genital malignancy, being 1 vulvae, 1 cervix and 1 vulvae and cervix carcinomas; 1 had central nervous system oligodendroglioma; and 1 testicle germ cell teratoma. Conclusion Estimated malignancy frequency of 0.7% was reported during cSLE follow up in a multicentric series. Median disease activity and cumulative damage scores, by the time of malignancy diagnoses, were high; considering that reported in adult series.
RESUMEN
Background: Care giving of children with leukemia involves considerable stress and anxiety on the part of family caregivers. Although caregivers’ burden is a crucial predictor of the health of both the child and the caregiver, it is often overlooked. Aim and Objectives: The present study aimed to assess the burden faced by caregivers of pediatric leukemia patients attending a tertiary care hospital in West Bengal, to elicit their sociodemographic characteristics and patients’ profile, and to find out relationship among these, if any. Materials and Methods: The study was descriptive observational type with cross-sectional design. It was conducted among caregivers of pediatric leukemia patients. Data were collected from 38 caregivers using predesigned, pretested, semi-structured schedule, and patients’ records. Burden was measured using Zarit Burden Interview, which is a 22 item 5-point Likert scale. Data were compiled and analyzed in Microsoft Excel and Statistical Software for the Social Sciences 20.0 for statistical analysis. Sociodemographic and clinical variables were expressed as number, percentages, mean, and standard deviations. To find out the association between different factors and caregiver burden, a logistic regression model was used. P < 0.05 was considered as statistically significant. Results: Majority of the caregivers were the mothers of the patients (68.42%), and most of the families of caregivers belonged to lower middle class according to modified BG Prasad Scale. Half of the caregivers (50%) experienced moderate–to-severe burden according to Zarit Burden Interview. Association was found between burden experienced and duration of disease and treatment. However, socioeconomic status was found to be the most significant determinant of burden as per multiple logistic regression by ENTER method. Conclusions: Majority of the caregivers were having moderate to severe and severe burden, which was significantly more among people coming from lower socioeconomic status. Prolonged disease duration and treatment were also found to be associated with increased burden of the caregivers.
RESUMEN
Background: Childhood leukemia is genetically a heterogeneous disease. Various types of cytogenetic abnormalities and immunophenotypic character are present in leukaemia which are important for risk stratification, treatment and play as significant prognostic factor. Pediatric acute leukaemia presents with varying clinical, morphological, immunological and molecular characteristics. It is very highly curable if diagnosed and treated properly. For detail typing and subtyping of acute leukemia immunophenotyping and cytogenetics are crucial. The aim of this study was to find out the genetic abnormalities and immunophenotypic characterization of childhood acute leukaemia patients in Bangladesh. Material & Methods: This was a retrospective observational study and was conducted in the Department of pediatric hemato-oncology of Combined Military Hospital, Dhaka and Ahsania Mission Cancer Hospital, Mirpur, Dhaka, Bangladesh during the period from February,2014 to March, 2022. There was total 98 cases of acute leukaemia. Results: In total 98 patients completed the study. We found that 79.59% patients were ALL and 20.41% patients were AML. Among ALL 80.64% were B cell type, 6.40% were T cell Type ; 12.82 % had TEL/AML1 or ETV6/RUNX1 t(12;21)(p13;q22), 5.13% patient had TCF3/PBX1 or E2A/PBX1 t(1;19)(q23;p13). In AML30.00% patient had PML/RARAt(15;17)(q22;q21), 10.00% patient had AML1/ETO or RUNX1/CBFA2T1 t(8;21) (q22;q22), 5.00% patient had FLT3/ ITD. In case of B-ALL highest expression of antigen was CD19 (91.64%) followed by CD10 (80.58%), HLADR (67.94%), CD22 (72.68%), CD79a (72.68%), TdT (52.14%) and CD34 (48.98%). In 44.24% cases there was co-expression of CD10 and CD19 and there was 11.6% expression of myeloid marker CD13 and 1.58% expression of T cell marker CD5. In case of T-ALL there was 100% expression of CD3. Expression of other antigen CD4, CD5, CD7, CD8, CD4/8 co-expression, TdT was 60%. There was 40% expression of CD1a and CD2. There was 20% expression of CD10, CD34 and TCRab also. In case of AML highest expression was MPO (93.75%) followed by CD33 (87.50%), CD13 (81.25%), CD117 (75%), HLADR (43.75%) and CD64 (50%). There was 6.25% aberrant expression of B-ALL marker CD19 and T-ALL marker CD3, CD4, CD5, CD7 also. Conclusion: Depending on this study we can say that except few variations distribution of immunophenotypical subtypes and genetic abnormalities of childhood acute leukaemia are almost similar to other literature published from neighboring countries.This study will serve as a guideline for future study in our country in this aspect.
RESUMEN
Background & objectives: Both innovator and generic imatinib are approved for the treatment of Chronic Myeloid Leukaemia-Chronic phase (CML-CP). Currently, there are no studies on the feasibility of treatment-free remission (TFR) with generic imatinib. This study attempted to determine the feasibility and efficacy of TFR in patients on generic Imatinib. Methods: In this single-centre prospective Generic Imatinib-Free Trial-in-CML-CP study, twenty six patients on generic imatinib for ?3 yr and in sustained deep molecular response (BCR ABLIS ?0.01% for more than two years) were included. After treatment discontinuation, patients were monitored with complete blood count and BCR ABLIS by real-time quantitative PCR monthly for one year and three monthly thereafter. Generic imatinib was restarted at single documented loss of major molecular response (BCR ABLIS>0.1%). Results: At a median follow up of 33 months (interquartile range 18.7-35), 42.3 per cent patients (n=11) continued to be in TFR. Estimated TFR at one year was 44 per cent. All patients restarted on generic imatinib regained major molecular response. On multivariate analysis, attainment of molecularly undetectable leukaemia (>MR5) prior to TFR was predictive of TFR [P=0.022, HR 0.284 (0.096-0.837)]. Interpretation & conclusions: The study adds to the growing literature that generic imatinib is effective and can be safely discontinued in CML-CP patients who are in deep molecular remission.
RESUMEN
@#Introduction: Differences in baseline characteristics and response to treatment in different age groups of patients with chronic myeloid leukaemia (CML) in resource-limited countries have not been extensively studied. We aimed to determine the differences in clinicopathological parameters at diagnosis and response to imatinib in adult CML patients with younger (under 60 years; YCML) and older (60 years and older; OCML) age treated at our institution from March 2001 to March 2021. Methods: A retrospective analysis of consecutive adult CML patients receiving imatinib was performed. Clinicopathological parameters and treatment response were reviewed and analysed using hospital medical records and electronic data reports. Results: The median age at diagnosis was 50 years. OCML patients (n=17) had significantly more comorbidities. The YCML group (n=50) generally had a palpable spleen >5cm from the costal margin, mild anaemia, hyperleukocytosis and thrombocytosis. A starting dose of 400 mg/day was observed in 84% of YCML and in 65% of OCML. Cumulative complete cytogenetic response was 50% in YCML versus 70.6% in OCML, p=0.158. OCML tended to have a higher percentage of major molecular response (MMR) (52.9% versus 32%) and a shorter time to MMR, 22 months (range 5-70) versus 35 months (range 8-53). OCML experienced more haematological and non-haematological treatment-related adverse events after imatinib therapy. Conclusion: Although OCML patients had more comorbidities and treatment intolerances, overall long-term treatment response was comparable to YCML. In OCML, a more personalised approach to initial and subsequent dosing of imatinib may be considered.
RESUMEN
@#Introduction: Chronic lymphocytic leukaemia (CLL) is the most frequent adult leukaemia in the Western world. The clinical presentation varies greatly, from very indolent cases to those with aggressive and fast advancing disease. This variation has significant implications for clinical approaches, therapeutic tactics, and, ultimately, survival durations from diagnosis. Acquired chromosomal aberrations play a key role in CLL aetiology. Due to difficulty to obtain abnormal metaphases for analysis, few methods such as fluorescence in-situ hybridization (FISH) and multiplex ligation-dependent probe assay (MLPA) were employed to detect chromosomal aberration however the methods are limited to specific locus only. Thus, this study is aimed to detect the chromosomal aberrations using DNA microarray platform. Methods: In this retrospective study, DNA archive obtained from 7 CLL patients which collected at diagnosis and subjected to Affymetrix CytoScan® 750K single nucleotide polymorphism (SNP) array following the manufacture procedure. The raw data obtained were analysed using the Chromosome Analysis Suite (ChAS) software (Affymetrix) using annotations of genome version GRCh38 (hg38). Result: Out of 7 patients, 4 of them showing deletion of 13q while 3 of them showing deletion of 14q in various region . Some of the deleted loci were too small (0.42-0.6Mb) to be detected by conventional cytogenetic analysis (CCA). There was also the presence of additional chromosomal aberrations that could be missed by CCA, FISH, or MLPA due to cryptic deletion or duplication that was as small as 0.4MB in size. Conclusion: The present study showed that low resolution chromosomal aberration was able to be detected using DNA microarray platform in comparison to CCA, FISH and MLPA.
RESUMEN
@#Objective To construct eukaryotic expression plasmids of human promyelocytic leukaemia(hPML) gene of six transcripts and analyze the subcellular location of the recombinant proteins.Methods Primers were designed according to the hPML gene sequences registered in GenBank databases.Six transcripts of hPML gene fragments(hPML Ⅰ,Ⅱ,Ⅳ,Ⅴ,Ⅵ and Ⅶ) were amplified by RT-PCR,which were linked to the eukaryotic expression vector pCAGGS respectively.The obtained eukaryotic expression plasmids of six transcripts of hPML gene were transfected into 293T cells respectively and detected for their protein expression by Western blot,while transfected into Vero cells and detected for their subcellular location by indirect immunofluorescence assay(IFA).Results The target gene fragments of the six eukaryotic expression plasmids were consistent with the hPML gene sequences registered in GenBank.All the six recombinant proteins showed specific binding with Myc antibody,among which the recombinant protein hPML Ⅰ,Ⅱ,Ⅳ,Ⅴ and Ⅵ were located in the nucleus and cytoplasm,while the recombinant protein hPML Ⅶ was mainly located in the cytoplasm,rarely in the nucleus.Conclusion The eukaryotic expression plasmids of six transcripts of hPML gene all can be expressed correctly in mammalian cells,and the expressed recombinant proteins were located in nucleus and cytoplasm simultaneously or mainly in cytoplasm.This study provides an experimental basis for subsequent study on the antiviral and other biological functions of recombinant protein hPML.
RESUMEN
An unusual case of extramedullary relapse in a known case of T cell lymphoblastic lymphoma is presented here. The patient is a 24-year-old girl diagnosed with T cell lymphoblastic lymphoma in June 2020. The patient th showed extramedullary relapse in the gastrointestinal mucosa without bone marrow recurrence whilst on the 6 month of BFM (Berlin Frankfurt Munster) -90 maintenance. Isolated gastrointestinal infiltrate is unusual at presentation or relapse of T cell lymphoblastic lymphoma. While on BFM-90 maintenance, she presented with multiple vomiting and abdominal pain episodes. Upper gastrointestinal scopy revealed multiple gastric ulcers, with morphology and immune-phenotyping identical to her initial T cell lymphoblastic lymphoma. We could not find evidence of leukaemic activity in the blood, cerebrospinal fluid or bone marrow. Several types of leukemic infiltrates have been recognised at post-mortem examination; the fact that makes our case is unique is T cell lymphoblastic lymphoma presenting as an isolated malignant ulcer, which to the best of our knowledge, has not been reported. We conclude that relapsed T cell lymphoblastic lymphoma may present with gastrointestinal infiltration. Further investigations are warranted to establish the same
RESUMEN
@#Introduction: Imatinib mesylate has been widely used as a standard treatment for chronic myeloid leukemia (CML). It acts as a selective competitive inhibitor of the BCR-ABL tyrosine kinase. Despite the excellent efficacy on CML treatment, some patients developed resistance to the treatment. Mutation in the PDGFRA may be one of the factors involved in the mechanism of resistance that affects the response to imatinib. The mutational status of PDGFRA is highly relevant for prognosis and treatment prediction in CML patients. Thus, this study is intended to establish and validate a High Resolution Melting (HRM) analysis for PDGFRA exon 10 c.1432 T>C polymorphism in CML patients. Methods: High resolution melting (HRM) analysis was used to identify the c.1432 T > C polymorphism in PDGFRA exon 10 (n =86; response = 43; resistance = 43). The results from HRM analysis were compared and validated with Sanger sequencing. The association between the polymorphism and treatment response was assessed by statistical analysis using binomial logistic regression analysis. Results: HRM analyses showed two different melt curves. One curve followed the shape of the reference, homozygous wild type (TT) and the other curve showed a different melting profile than the reference with the TC genotype (heterozygous variant). The results revealed that heterozygous variant (TC) genotype showed a high risk of acquiring resistance with an OR of 3.795; 95% CI: 1.502-9.591, with a statistically significant association, p = 0.005. HRM analysis also showed 100% sensitivity and specificity in the detection of PDGFRA exon 10. Conclusion: The HRM analysis of PDGFRA exon 10 c.1432 T>C was successfully established. The exon 10 c.1432 T>C polymorphism shows a higher risk for the development of resistance toward imatinib treatment.
RESUMEN
Objective:To investigate the value of friend leukemia integration-1 (FLI1) and NKX2.2 in the diagnosis of pediatric extraskeletal Ewing′s sarcoma (E-EWS), and the differential diagnosis of other pediatric small round cell tumors.Methods:Clinical data of children with E-EWS and other small round cell tumors diagnosed in the Department of Pathology of Xi′an Children′s Hospital and Xijing Hospital, Air Forth Medical University from January 2014 to December 2020 were retrospectively analyzed.Expression levels of FLI1 and NKX2.2 were examined by immunohistochemical staining.Results:(1)A total of 27 cases of E-EWS and 145 cases of other small round cell tumors were included, including 40 cases of poorly differentiated and undifferentiated neuroblastoma, 34 cases of rhabdomyosarcoma, 30 cases of metanephric Wilms tumor, 25 cases of lymphoma, 10 cases of malignant rhabdomyosarcoma, 2 cases of myeloid sarcoma, 1 case of desmoplastic small round cell tumor, 1 case of BCOR-rearranged sarcoma, 1 case of CIC-rearranged sarcoma and 1 case of melanotic neuroectodermal tumor of infancy.(2)The sensitivity, specificity, positive and negative predictive value of FLI1 in E-EWS were 88.9%(24/27 cases), 5.5%(8/145 cases), 14.9%(24/161 cases) and 72.8% (8/11 cases), respectively, and those of NKX2.2 in E-EWS were 92.6%(25/27 cases), 97.9%(142/145 cases), 89.3% (25/28 cases) and 98.6%(142/144 cases), respectively.The sensitivity, specificity, positive and negative predictive value of combined FLI1 and NKX2.2 were 85.2%, 97.9%, 88.5%, and 97.3%, respectively.Conclusions:NKX2.2 is sensitive and specific for the differential diagnosis of E-EWS from other pediatric small round cell tumors, showing a high diagnostic utility.FLI1 has high sensitivity but poor specificity for diagnosing E-EWS.The combination of detecting FLI1, NKX2.2 and other antibodies and genetic analysis is recommended to prevent misdiagnosis.
RESUMEN
@#Introduction: Undernutrition is an important prognostic factor in children with acute lymphoblastic leukaemia (ALL) and higher incidences of mortality are reported during induction remission in severely undernourished children. This study was conducted to assess the prevalence and implications of malnutrition among ALL children during induction therapy. Methods: All children ≤18 years diagnosed and treated for ALL at our institution, between June 2010 to July 2016 were included in this retrospective cohort study. Nutrition was assessed by body mass index-forage z-scores calculated using World Health Organization’s Anthro (<5 years) and Anthro-Plus Software (≥5 years). Children with a z-score of <-2 standard deviation (SD) were classified as undernourished. All events and outcomes were compared between undernourished and adequately nourished children. Results: A total of 72 children were included in this study. Nineteen (26.4%) were undernourished at the time of diagnosis. Twenty-eight (38.8%) children had significant weight loss. Sixty-seven of them attained remissions by the end of induction chemotherapy. Five children who died had significant weight loss. Children with significant weight loss during induction phase had a higher risk of developing complications such as febrile neutropenia, pneumonia, mucositis, and drug interruptions. Those with a deteriorating nutritional status had a higher chance of poor treatment outcome (p=0.05, CI=95%). Conclusion: It is important to assess and monitor the nutrition status of children and timely nutritional intervention is essential. A simple, cost effective nutritional intervention that will decrease morbidity and mortality associated with the disease must be devised.
RESUMEN
Chronic lymphocytic leukemia is a neoplastic entity pertaining to lymphocytes when they get accumulated in either lymph nodes thereby call as Small lymphocytic lymphoma or spilled up in the circulation of the blood. These lymphocytes are mature looking, relatively immunologically competent usually expressing B cell phenotype markers. The median age of affection of patients at the time of diagnosis is 71 years and its incidence increases with age. Its incidence in an age group <50 years is quite uncommon accounting only to 10-15% of total diagnosed cases. Here we are presenting such a rare case report of chronic lymphocytic leukaemia where age of affection is less than 40 years
RESUMEN
BACKGROUND: Chronic lymphocytic leukaemia (CLL) is a neoplasm of B-cells characterized by variable prognosis. Exploring the proteome of CLL cells may provide insights into the disease. Therefore, eleven proteomics experiments were conducted on eleven primary CLL samples. RESULTS: We reported a CLL proteome consisting of 919 proteins (false discovery rate (FDR) 1%) whose identification was based on the sequencing of two or more distinct peptides (FDR of peptide sequencing 1%). Mass spectrometry-based protein identification was validated for four different proteins using Western blotting and specific antibodies in different CLL samples. Small sizes of nucleolin (~57 kDa and ~68 kDa) showed a potential association with good prognosis CLL cells (n = 8, p < 0.01). Compared with normal B-cells, CLL cells over-expressed thyroid hormone receptor-associated protein 3 (THRAP3; n = 9; p = 0.00007), which is implicated in cell proliferation; and heterochromatin protein 1-binding protein 3 (HP1BP3; n = 10; p = 0.0002), which promotes cell survival and tumourogenesis. A smaller form of HP1BP3, which may correspond to HP1BP3 isoform-2, was specifically identified in normal B-cells (n = 10; p = 0.0001). HP1BP3 and THRAP3 predicted poor prognosis of CLL (p 0.05). Consistently, THRAP3 and HP1BP3 were found to be associated with cancer-related pathways (p 0.05). CONCLUSIONS: Our findings add to the known proteome of CLL and confirm the prognostic importance of two novel cancer-associated proteins in this disease.
Asunto(s)
Leucemia Linfocítica Crónica de Células B , Biomarcadores de Tumor/análisis , Espectrometría de Masas , Factores de Transcripción/análisis , Proteínas Nucleares/análisis , Western Blotting , Cromatografía Liquida , Proteómica , Proteínas de Unión al ADN/análisisRESUMEN
@#Introduction: The advent of BCR-ABL1-targeted therapy with the tyrosine kinase inhibitor (TKI), for example, imatinib and nilotinib, marked a turning point in the therapy of chronic myeloid leukaemia (CML). However, a substantial proportion of patients experience primary or secondary disease resistance to TKI. There are multifactorial causes contributing to the treatment failure of which BCR-ABL1 kinase domain mutation being the most common. Here, we describe a case of a CML patient with H396P mutation following treatment with nilotinib. Case: A 60-year-old woman presented with abdominal discomfort and hyperleukocytosis. She was diagnosed as CML in the chronic phase with positive BCR-ABL1 transcripts. Due to the failure to obtain an optimal response with imatinib treatment, it was switched to nilotinib. She responded well to nilotinib initially and achieved complete haematological and cytogenetic responses, with undetectable BCR-ABL1 transcripts. However, in 4 years she developed molecular relapse. Mutation analysis which was done 70 months after commencement of nilotinib showed the presence of BCRABL1 kinase domain mutation with nucleotide substitution at position 1187 from Histidine(H) to Proline(P) (H396P). Currently, she is on nilotinib 400mg twice daily. Her latest molecular analysis showed the presence of residual BCR-ABL1 transcripts at 0.22 %. Discussion/conclusion: This case illustrates the importance of BCR-ABL1 mutation analysis in CML patients with persistent BCR-ABL1 positivity in spite of treatment. Early detection and identification of the type of BCRABL1 mutation are important to guide appropriate treatment options as different mutation will have different sensitivity to TKI.
RESUMEN
ABSTRACT Background: Acute lymphoblastic leukaemia (ALL) is the most common malignancy in childhood. Although some prognostic factors have been defined to date, the estimation of prognosis is currently not perfect. Previous studies had shown an association of FLT3 with poor prognosis and CCAAT-enhancer-binding protein α (CEBPA) mutation with the development of acute myeloid leukaemia (AML). Here, we aimed to evaluate the prognostic value of FLT3-ITD and CEBPA mutations in ALL. Methods: Sixty-one patients with ALL were included in the study. The patients were divided into three risk groups according to BFM risk classification. All of the patients were examined for FLT3-ITD mutations and 45 of them for CEBPA mutations. Mutation positive and negative patients were compared in terms of their risk groups, translocations and cell lineage. The clinical courses of the patients were appraised. Results: FLT3-ITD mutation was detected in 3 of the 61 patients, and CEBPA mutations were detected in 11 of the 45 patients. The incidence of established prognostic indicators including BFM risk classification, t(9; 22); BCR-ABL, t(1; 19); E2A-PBX1, t(12; 21); TEL-AML1, t(4; 11); MLL-AF4 were similar between FLT3-ITD and CEBPA positive and negative patients. A patient with an FLT3-ITD mutation was very susceptible to pancytopenia after maintenance treatment and two other patients with FLT3-ITD mutations were more prone to febrile neutropenia. Conclusion: Our results suggested that CEBPA or FLT3-ITD mutations might not be related to ALL prognosis in the sampled Turkish patients. However, FLT3-ITD mutation might have an influence on the response of bone marrow to chemotherapy.
RESUMEN
ABSTRACT HTLV-I is the first retrovirus directly associated with human malignancy. HTLV-I is endemic in the Caribbean, Japan, parts of Africa, the Middle East and South America. This enveloped double-stranded RNA virus is transmitted by routes similar to HIV, including untested blood/blood product transfusions, sexual contact, intravenous drug abuse, and from mother to child in a vertical transmission. HTLV infection rarely occurs outside of the above sites and very few studies are available globally. Although the retrovirus identified as being associated with chicken sarcoma was described by Rous (1908), the first human retrovirus was not isolated until 1978 from cutaneous T-cell lymphoma in black Americans. Endemicity of the disease in the Caribbean was discovered in 1982 after adult T-cell leukemia (ATL) was found in some London patients, all of Caribbean origin. To date, there is still a lack of studies on the role of viruses in diseases such as inflammatory disorders, arthritis, Sjogren's syndrome, and infectious dermatitis. In Saint Vincent, there were no documented studies that reflected the prevalence and expression of the virus although we did report some cases of HIV-positive HTLV-I ATL. This article discusses the diagnosis and management of a 55-year-old female with an atypical presentation of adult T-cell lymphoma, and we conducted a literature review to determine the prevalence and common presentations of ATL.
RESUMEN
Bleeding haemorrhoids present commonly to surgical outpatient departments (OPDs) and sometimes in emergency. Most often conservative management suffices but infrequently the patients can land up in emergency operation theatre for uncontrolled bleeding. Some haematological disorders can also present with rectal bleeding and amongst them Chronic myeloid leukaemia (CML), a haematological malignancy, presenting as bleeding per rectum has been not been reported so far, though instances of CML with gingival bleed, epistaxis have been reported. CML per se is known to be asymptomatic (40% cases) and bleeding is rarely seen. Here we present an interesting case of an emergency hemorrhoidal bleed that was subsequently diagnosed as CML. The patient after failed conservative management for bleeding haemorrhoids was taken up for emergency haemorrhoidectomy and again a relook under general anaesthesia in the post-operative period as he continued to ooze. The total leucocyte counts which were initially high continued to rise further and the bone marrow examination was reported as chronic myeloproliferative neoplasm and the excised mass was consistent with haemorrhoids. Rectal bleeding associated with CML is so far unreported even though bleeding is seen due to platelet dysfunction from gums and nose in chronic phases of the disease. A high index of suspicion is needed particularly with deranged haematological parameters for considering a diagnosis of these rare presentations. and anaesthesia.
RESUMEN
Background:Magnetic resonance imaging (MRI) is the technique that demonstrated the highest sensitivity and specificity in the early diagnosis of osteonecrosis. It allows detecting initial typical signal intensity alterations of the bone marrow when other examinations showed nonspecific findings or even no alterations at all. The aim of this study is to assess the role of magnetic resonance imaging in detection and monitoring osteonecrotic lesions in pediatric patient with acute lymphoblastic leukemia after chemotherapy.Materials and Methods: This prospective study was performed on 30 pediatric patients ranged from 4 to 18 years with acute lymphoblastic leukemia on chemotherapy or after 3months from ending chemotherapy with symptoms suspicious for osteonecrosis (i.e., articular pain). All patients were explained about the procedure to be done. MRI study of whole lower limbs was done for all patients.Results:In the present study all patients were symptomatic. 24\30 patients (80%) had hip pain, 25\30 patients (83.3%) had knee pain and 8\30 patients (26.7%) had limping. We reported that knee pain was the most common complaint representing 83.3% of patients. 11\30 patients (36.7%) had no MRI findings. 19\30 patients (63.3%) had different positive findings; 4 patients (13.3%) had non -articular osteonecrosis (ON) only with no joint involvement (bone infarction), 2 patients (6.7%) had avascular necrosis of femoral head epiphysis without bone infarction and 13 patients (43.3%) had combined bone infarction and avascular necrosis with Joint involvement. Follow up by MRI was done for all patients (30 patients), 27 patients showed no change in MRI findings, one patient progressed from avascular necrosis of the femoral headepiphysis without deformity to avascular necrosis of the femoral head epiphysis with deformity. The other two patient showed regressive course.Conclusion:We concluded that MRI study is mandatory for early detection and monitoring of lower limb osteonecrosis in pediatric patients with acute lymphoblastic leukemia under or after chemotherapy.The radiologist and clinician must do MRI lower limbs routinely and follow up MRI after 4-6 months to first MRI due to some patients had regressive or progressive findings
RESUMEN
Background: For diagnosis of haematological disorders there are three modalities to examine bone marrow, bone marrow aspiration cytology (BMA), bone marrow imprint (BMI) and bone marrow biopsy (BMB). BMA gives cytological picture; BMI also gives cytological picture but cells are less in number and BMB gives cytological as well as architectural picture. BMA alone may not be sufficient to reach diagnosis therefore the present study was undertaken to compare the above modalities. The study was conducted with the aim to perform cytomorphological evaluation of bone marrow in various haematological disorders with special reference to leukaemia and lymphoma and to compare bone marrow aspiration smears with bone marrow trephine biopsy.Methods: The present study was conducted in department of pathology, LLRM Medical College, Meerut inpatients attending the outpatient department and in-patient department of pediatrics and medicine of SVBP Hospital attached to LLRM Medical College, Meerut, over a period of one year i.e. from March 2018 to May 2019. A detailed clinical history, physical examination and laboratory examination of all the cases was done.Results: Out of 50 cases, maximum number of cases were of anemia 26/50 (52%) followed by leukemia 17/50 (34%), lymphoma 5/50 (10%), multiple myeloma 1/50 (2%), myelofibrosis 1/50 (2%), leishmaniasis 1/50 (2%) and idiopathic thrombocytopenic purpura 1/50(2%). BMA smears were compared with biopsy and concordance and discordance was established. The overall diagnostic accuracy of aspiration was 94%.Conclusions: Bone marrow examination is a safe, quick easy and cost-effective procedure with very less patient discomfort. BMA shows better cellular details when compared to BMI and BMB. BMB is diagnostic investigation in dry tap cases like aplastic anemia, myelofibrosis, myelodysplastic syndrome and metastatic tumors. In present study, concordance between BMA and BMB was seen in majority of the cases and diagnostic accuracy was 94% study concludes that bone marrow aspiration cytology and trephine biopsy complement each other and should be performed simultaneously for complete bone marrow work up and evaluation.
RESUMEN
Background: Acute Lymphoblastic Leukemia (ALL) is a common hematological malignancy in children and is characterized by genetic changes such as mutations and chromosomal translocations. These cytogenetic and molecular abnormalities have got diagnostic and prognostic significance. Identification of these abnormalities helps in risk categorization and appropriate therapy. Aim of the study was to assess the cytogenetic/molecular abnormalities associated with B Lineage ALL in children.Methods: It was a hospital based retrospective observational study of 79 children diagnosed with B Lineage ALL by Bone marrow aspirate morphology and flow cytometry.' Bone marrow samples or Peripheral blood were sent for cytogenetic/molecular analysis by Fluorescent in situ Hybridization technique. Descriptive data analysis was done using SPSS software.Results: Out of 199 cases 163(82%) were B Lineage ALL. 79(48%) undergone molecular analysis. Out of 79 cases of B lineage ALL, Translocation t(9;22) BCR-ABL1' was positive in 2(2.5%) cases , Translocation t(12;21) TEL/AML1' was positive 9(11%) cases and MLL (KMT2A) Gene Rearrangements was seen in 6(7.6%) children. Out of 79 cases of B lineage ALL, 6(7.6%) were Infantile ALL (Males 1(17%); Females 5(83%)).' 4(67%) cases were positive for MLL (KMT2A) Gene Rearrangement, all of them were female children. Over all 17(22%) cases (Males 4(24%); Females 13(76%)) were positive for molecular abnormalities.Conclusions: Many children with ALL have got Cytogenetic and Molecular abnormalities. The highest percentage of cytogenetic and molecular genetic abnormalities was related to t(12;21)TEL/AML1 in B Lineage ALL children, if present confer favourable prognosis. MLL (KMT2A) Gene Rearrangement was the common molecular abnormality in Infantile B ALL, presence of it leads to high risk categorization and confer poor prognosis. The evaluation of cytogenetic and molecular genetic abnormalities in children is essential in estimating the prognosis in B Lineage ALL children, which will be a great contribution to offer appropriate therapeutic approaches.