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Bone marrow biopsy: hypercellular marrow with granulocytic proliferation, Hematoxylin Eosin (H&E) stain, 5 x magnification
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Myelodysplastic syndromes are a heterogeneous group of clonal disorders characterized by peripheral blood cytopenia and normal or hypercellular bone marrow with dysplasia in more than one blood cell lineage, unfavorable prognosis, and lack of response to treatment. We present the case of a 12-year-old male patient who was referred to the Hematology...
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Acute megakaryocytic leukemia (AMKL) is a rare subtype of acute myeloid leukemia (AML), which is challenging to diagnose due to frequent myelofibrosis (MF) and a low percentage of blast cells. In the present study, clinical characteristics and experimental observations in 9 adult patients diagnosed with AMKL, who were recruited by the Sino-U.S. Sha...
In our previous study, the 4‑aminobutyrate aminotransferase (ABAT) gene was screened and selected as a target gene that may affect the prognosis of myelodysplastic syndrome (MDS). The present study aimed to determine the prognostic value of ABAT in 152 patients with MDS, 29 patients with acute myeloid leukemia (AML) and 40 controls, by detecting th...
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... 2 Berbeda dengan dewasa, MDS jarang terjadi pada anak-anak, MDS merupakan 4% dari semua keganasan hematologi, dengan insiden 1,8/satu juta anak/tahun pada kelompok usia 0-14 tahun. 3 Paparan berkepanjangan terhadap benzena dalam kadar yang tinggi, agen kemoterapi, agen khusus alkylating, inhibitor topoisomerase, radiasi, merokok, infeksi virus dan paparan zat kimia di bidang pertanian dapat meningkatkan risiko terjadinya MDS. Agen tersebut menyebabkan terjadinya mutasi dan kerusakan DNA sehingga hilangnya integritas kromosom. ...
Background: Myelodysplastic syndrome (MDS) is a group of bone marrow disorders characterized by ineffective hematopoiesis resulting in cytopenia and an increased risk of Acute Myeloid Leukemia (AML). MDS is a disease that is often found in elderly patients. The mean age at disease onset was 70 years. Case: A 72-year-old woman complained of feeling tired easily since 5 months throughout the day, not aggravated by activity and starting to gain weight in the last 1 week to interfere with the patient's activities. The patient also complained of intermittent dizziness since 2 months, was not affected by activity or change of position, and was not accompanied by nausea and vomiting. Complaints of fever, prolonged cough, bleeding, yellow body, red skin rash, progressive weight loss, bowel and bladder disorders were denied. Physical examination of the patient revealed vital signs within normal limits. The patient's conjunctiva was anemic, the patient's extremities also looked pale and there was no organ enlargement such as hepatomegaly and splenomegaly. Laboratory examinations at the time of presentation showed an increase in leukocytes, a decrease in erythrocytes, a decrease in hemoglobin, and a decrease in hematocrit. The patient's platelets were still in the normal range and there were no disturbances in kidney and liver function. The results of leukocytes, erythrocytes, and hemoglobin taken consecutively on 3 consecutive days still show an increase in leukocytes despite the downward trend in value. The results of bone marrow examination, namely trephine morphology, showed hypercellular marrow (approximately 80% cellularity) with an increase in blast cells of 10-15%, decreased maturation of myeloid series, erythroid cells and dyserythropoiesis, scattered plasma cells, increased megakaryocytes accompanied by dysmegakaryopoiesis. Patient diagnosed as Myelodysplastic Syndrome with Excess Blast. The therapy given to the patient during hospitalization aims to overcome the symptoms experienced by the patient. Transfusion of PRC (Packed Red Cell) 1 Kolf/day with Furosemide 20 mg by injection before transfusion and administration of Folic Acid 1 x 1 tablet per day provided an improvement in the patient's condition. This is evidenced by the increase in hemoglobin levels during treatment. The patient was referred to a referral hospital for further treatment. Conclusion: Myelodysplastic syndrome (MDS) is a group of bone marrow disorders characterized by ineffective hematopoiesis resulting in cytopenia and an increased risk of acute myeloid leukemia (AML). The patient was diagnosed with MDS with Excess Blast based on bone marrow biopsy. Other investigations, namely complete blood count, found an increase in leukocytes and hemoglobin, this also supports the diagnosis of MDS in this patient. The prognosis in this patient is classified as high risk based on IPSS-R, which means survival for 1-2 years is 13%. Latar Belakang: Myelodysplastic syndrome (MDS) adalah kelompok penyakit gangguan sumsum tulang ditandai dengan hematopoiesis yang tidak efektif mengakibatkan sitopenia dan peningkatan risiko terjadinya Leukemia Mieloid Akut (AML). MDS merupakan penyakit yang sering ditemukan pada pasien lanjut usia dengan rerata onset penyakit yaitu usia 70 tahun. Kasus: Perempuan berusia 72 tahun mengeluh mudah lelah sejak 5 bulan yang dirasakan sepanjang hari, tidak diperberat dengan aktivitas dan mulai bertambah berat 1 minggu terakhir hingga menganggu aktivitas pasien. Keluhan pusing yang hilang timbul sejak 2 bulan, tidak dipengaruhi oleh aktivitas atau perubahan posisi, dan tidak disertai dengan mual dan muntah. Keluhan demam, batuk lama, perdarahan, badan kuning, ruam merah dikulit, penurunan berat badan yang progresif, gangguan BAB dan BAK disangkal. Pasien didapatkan tanda vital dalam batas normal. Konjungtiva pasien anemis, ekstremitas pasien juga tampak pucat dan tidak didapatkan pembesaran organ seperti hepatomegaly dan splenomegaly. Hasil laboratorium diperoleh leukositosis, eritropenia, anemia, dan penurunan hematokrit. Platelet pasien masih berada pada rentang normal dan tidak terdapat gangguan pada fungsi ginjal dan hati. Hasil leukosit, eritrosit, dan hemoglobin yang diambil berturut-turut pada 3 hari berturut-turut tetap menunjukkan peningkatan leukosit meskipun tren nilai mengalami penurunan. Hasil pemeriksaan sumsum tulang yaitu gambaran morfologi trephine menunjukkan sumsum hiperseluler (kurang lebih 80% selularitas) dengan peningkatan sel blast 10 – 15 %, penurunan maturasi seri myeloid, sel eritroid dan diseritropoiesis, scattered sel plasma, peningkatan megakariosit disertai dismegakariopoiesis. Pasien diagnosa sebagai Myelodysplastic Syndrome with Excess Blast. Terapi yang diberikan pada pasien selama perawatan di rumah sakit bertujuan untuk mengatasi gejala yang dialami pasien. Transfusi PRC (Packed Red Cell) 1 Kolf/hari dengan pemberian Furosemide 20 mg secara injeksi sebelum transfusi dan pemberian Asam Folat 1 x 1 tablet per hari memberikan perbaikan kondisi pada pasien. Hal ini dibuktikan dengan peningkatan kadar hemoglobin selama perawatan. Pasien dirujuk ke rumah sakit rujukan untuk penanganan lebih lanjut. Simpulan: Myelodysplastic syndrome (MDS) adalah kelompok penyakit gangguan sumsum tulang ditandai dengan hematopoiesis yang tidak efektif mengakibatkan sitopenia dan peningkatan risiko terjadinya Leukemia Myeloid Akut (AML). Pasien didiagnosis mengalami MDS with Excess Blast berdasrakan pemeriksaan biopsis sumsum tulang. Prognosis pada pasien ini tergolong high risk berdasarkan IPSS-R yang artinya survival untuk 1 – 2 tahun yaitu 13%.
... NPM1 mutations are the commonest AML mutations identified up to now in adult patients, occurring in about 30% of cases, including half of cytogenetically normal AML patients and it is asso ciated with a good prognosis in the absence of FLT3 ITD mutation (14,15). NPM1 mutations were almost always found in association with co-occurrence mutations and reported usually as late driver secondary events (8). ...
... Briefly, according to the moment during leukemogenesis, two groups of somatically acquired mutations were described: early acquired mutations [such as DNA methyltransferase 3A gene (DNMT3A) etc.] and late acquired mutations [such as FMS-like Tyrosine Kinase 3 (FLT3), Nucleophospmin 1 (NPM1) genes, etc.] [2,3]. The consequences of FLT3 and NPM1 mutations are well-known [1][2][3][4][5][6][7]11]. Early acquired mutations remain a continuous challenge for AML because these may persist after therapy, leading to clonal expansion during hematologic remission, and eventually to relapse [3]. ...
Background: Nowadays, cytogenetics and molecular genetics, but not only, are mandatory in acute myeloid leuke-mia (AML) management, as a consequence of their impact on AML pathogenesis, classification, risk-stratification, prognosis and treatment. Objective: The aim of our study was to present our algorithm for the analysis of copy number changes, aneuploidies and somatic mutations focusing on a rare AML case positive for four somatic mutations. Methods: Cytogenetic analysis, Multiplex Ligationdependent Probe Amplification (MLPA) analysis, somatic mutation analysis (for FLT3 ITD, FLT3 D835, DNMT3A R882 and NPM1 c.863_864ins) by using several PCR techniques and also next-generation sequencing (NGS) analysis were performed. Results: Cytogenetic analysis did not reveal structural or numerical chromosomal anomalies. The patient's DNA showed no copy number changes or aberrations (CNAs) following the MLPA analysis. By using several molecular technologies we found four mutations: FLT3-ITD, FLT3 D835 (c.2504A>T, D835V), DNMT3A R882C, and NPM1 c.863_864insTCTG. Challenges, benefits, applications and the limitations of each molecular technique used for the investigation of the mentioned mutation, and not only, are also described. Conclusion: All these techniques can be useful in the diagnosis of AML patients, each of them covering the limits of the other technique. New strategies for a positive, fast, accurate and reliable diagnosis are mandatory in cases with AML.
