Introduction to haematology

2020 ◽  
pp. 5169-5171
Author(s):  
Chris Hatton
Keyword(s):  
Bone Marrow ◽  
Weight Loss ◽  
Diagnostic Tests ◽  
Blood Count ◽  
Modern Medicine ◽  
Blood Film ◽  
Full Blood Count ◽  
Cellular Infiltration ◽  
Haematological Disorder ◽  
History Of

Haematology is the study of the composition, function, and diseases of the blood. The approach to a patient suspected of having a haematological disorder begins with taking a history (particularly noting fatigue, weight loss, fever, and history of bleeding) and performing a clinical examination (looking for signs of anaemia, infection, bleeding, and signs of cellular infiltration causing splenomegaly and/or lymphadenopathy). Key investigations include a full blood count, a blood film, and (in selected cases) examination of the bone marrow. Further diagnostic tests now routinely performed on blood and marrow samples include immunophenotyping and cytogenetic and molecular analysis. Mutational signatures may be diagnostically useful and potentially define treatment, keeping haematology in the vanguard of advances in modern medicine.

Diagnosis and investigation in haematology

2018 ◽  
Author(s):  
Chris Bunch
Keyword(s):  
Bone Marrow ◽  
Blood Count ◽  
Iliac Crest ◽  
Bone Marrow Examination ◽  
Needle Aspiration ◽  
Blood Film ◽  
Full Blood Count ◽  
Clinical Context ◽  
Posterior Iliac Crest ◽  
Haematological Disorders

This chapter addresses the interpretation of the full blood count, blood film, bone marrow examination, and related tests in the diagnosis of haematological disorders. Examination of a stained blood film, which should always be requested if a blood count abnormality cannot readily be explained by the clinical context, may give clues to the cause of the abnormality or prove diagnostic. Examination of the bone marrow is essential to the proper evaluation and diagnosis of many haematological disorders. The simplest form of marrow examination involves needle aspiration of marrow cells from the posterior iliac crest; smears are made and stained in the same way as a blood film. Bone marrow can also be biopsied for histological examination, at the same time as marrow aspiration.

scholarly journals Analysis of Full Blood Count and Bone Marrow Aspirations at Presentation in Children Diagnosed with Acute Leukaemias – A Single Centre Experience in Southern Nigeria

2021 ◽  
pp. 1-8
Author(s):  
G. K. Eke ◽  
K. I. Korubo
Keyword(s):  
Bone Marrow ◽  
Acute Lymphoblastic Leukaemia ◽  
Teaching Hospital ◽  
Lymphoblastic Leukaemia ◽  
Blood Count ◽  
Paediatric Oncology ◽  
Blood Film ◽  
Full Blood Count ◽  
Malignant Neoplasms ◽  
Southern Nigeria

Introduction: Acute leukaemias are the most common malignant neoplasms in childhood, presenting with a variety of nonspecific symptoms. Though many of the recent more sophisticated methods of diagnosis have important prognostic implications, they are often not available in low- and middle-income countries. Objective: To review the full blood count and bone marrow aspirations at presentation in children diagnosed with acute leukaemias at a teaching hospital in southern Nigeria. Methodology: A retrospective survey of children with acute leukaemias admitted into the Paediatric Oncology unit of the University of Port Harcourt Teaching Hospital (UPTH), from January 2014 to December 2020. Their clinical profile, full blood count and bone marrow aspirations were analyzed using SPSS version 25.0 Results: Forty-three children aged 8 months to 17 years, with a median age of 9 years, were diagnosed with acute leukaemia within the period under review, 28 (65.1%) were males and 15 (34.9%) females, giving a M:F ratio of 1.9:1. Commonest clinical features at presentation were fever (n=28, 65.1%), pallor (n=18, 41.9%) and gum bleeding (n=16, 37.2%); while 38 (88.4%) of them presented with anaemia, 20 (46.5%) had leukocytosis and 36 (83.7%) had thrombocytopoenia with a median platelet count of 42x109/L and circulating blasts were present in the peripheral blood film of most of the patients. Acute lymphoblastic leukaemia (ALL) was the diagnosis in 30 (70%) children, and AML in 9 (21%). The bone marrow was hypercellular in 30 cases (69.8%) and erythropoiesis was depressed in 39 (90.7%) children. Conclusion: At the UPTH, children with acute leukaemias were mostly males. Fever, pallor and gum bleeding were the commonest symptoms with most of them having circulating blasts. Acute lymphoblastic leukaemia was the commonest type and bone marrow was mainly hypercellular with depressed erythropoiesis.

scholarly journals EP11 An unusual presentation of Sweet syndrome

Rheumatology ◽  
2020 ◽  
Vol 59 (Supplement_2) ◽  
Author(s):  
Alaeldin A M Mohamednour ◽  
Daryl Teo ◽  
victor Rastu ◽  
Kenny Sunmboye
Keyword(s):  
Bone Marrow ◽  
Skin Biopsy ◽  
Inflammatory Arthritis ◽  
Blood Count ◽  
Unusual Presentation ◽  
Full Blood Count ◽  
Neutrophilic Dermatosis ◽  
Inflammatory Disorder ◽  
Sweet Syndrome ◽  
History Of

Abstract Background Sweet syndrome (acute febrile neutrophilic dermatosis) is a rare inflammatory disorder affecting individuals between the ages of 30 and 60. It is characterised by painful, edematous, and erythematous skin papules, plaques, or nodules. Fever and leukocytosis (neutrophilia) frequently accompany the skin lesions. A majority of cases are idiopathic but there is a significant proportion attributed to malignancy or medications. Our case is peculiar because of an unusual presentation of a 12-month history of undifferentiated inflammatory arthritis before manifestation as Sweet syndrome. The mainstay of treatment is corticosteroids, although spontaneous resolution has been reported. Treatment of an underlying medical cause may lead to an improvement in Sweet syndrome. Methods A 57-year old British male presented with a 1-year history of intermittent joint pain and swellings in both upper and lower limbs. He had been treated with short courses of oral corticosteroids for undifferentiated inflammatory arthritis. As part of his extensive investigations whilst as a private outpatient, a knee MRI raised suspicion of malignancy, leading him to be referred to haematology and having a bone marrow examination. He was admitted with fever, polyarthritis and skin rash in form of papules around elbows and pustules on tip of some fingers. He was started on empirical antibiotics and reviewed by the Dermatology and Rheumatology teams. A skin biopsy was performed. He continued to have temperature spikes throughout admission and inflammatory markers remained elevated despite being on antibiotics. Results Full blood count showed leucopenia and Iron deficiency anaemia MCV 78 Iron 6 Transferin saturation 15% .Electrolytes, renal and liver function were normal. CRP was elevated at 190 mg/L. Acute infection screen including blood cultures and viral screen were negative. Immunology tests including Anticcp, ANA, ENA, and ANCA were all unremarkable. Echocardiogram was normal. The bone marrow biopsy showed hypercellular marrow with reactive appearances. Full body CT showed no focal signs of infection, lymphadenopathy or malignancy, with the positive findings being only a mildly enlarged spleen. Skin biopsy was consistent with a neutrophilic dermatosis such as Sweet syndrome. Conclusion This case highlights the atypical presentation of classical Sweet syndrome with no obvious underlying cause and no rise in neutrophil count. It also raised our awareness that splenomegaly can be part of Sweet syndrome and does not necessarily mean an underlying haematological disorder. The patient showed remarkable improvement with resolution of synovitis, fever and the rash once restarted on corticosteroids. He has been discharged from haematology as his blood count and CRP have normalised. Although arthralgia and arthritis have been reported in Sweet syndrome, we believe that this the first case in the literature where Sweet syndrome has manifested as undifferentiated inflammatory arthritis. Disclosures A.A.M. Mohamednour None. D. Teo None. V. Rastu None. K. Sunmboye None.

Diagnostic techniques in the assessment of haematological malignancies

2020 ◽  
pp. 5181-5188
Author(s):  
Wendy N. Erber
Keyword(s):  
Bone Marrow ◽  
Blood Count ◽  
Molecular Genetic ◽  
Diagnostic Techniques ◽  
Blood Film ◽  
Clinical Samples ◽  
Clinical Relapse ◽  
Haematological Malignancies ◽  
Prognostic Prediction ◽  
Detection Of Mutations

The diagnosis of haematological malignancies requires an understanding of the diseases and the uses and limitations of the range of available investigations. The relative importance of different investigations varies by disease entity. The blood count is one of the most widely used tests in all of medicine and often the first indication of an underlying haematological malignancy. Some blood count features are ‘diagnostic’ and others may give an indication of a bone marrow defect. Morphological assessment of a stained blood film adds value to an abnormal blood count. It may identify abnormal morphology of red cells, leucocytes, or platelets which may be specific and diagnostic, or give clues suggesting a diagnosis. Bone marrow aspirate (liquid sample) gives cytological detail, and trephine biopsy provides information about marrow cellularity, architecture, cellular distribution, and extent of fibrosis. Immunophenotyping detects cellular antigens in clinical samples and is essential in the diagnosis and classification of haematological malignancies. It is also used for disease staging and monitoring, to detect surrogate markers of genetic aberrations, identify potential immunotherapeutic targets, and to aid prognostic prediction. Cytogenetics assesses the number and structure of whole chromosomes and chromosomal regions in neoplastic cells and is performed to diagnose and classify some haematological malignancies. Molecular genetic methods facilitate the detection of mutations, rearrangements, or translocations in genes. Applications in malignant haematology include confirming clonality, detecting disease-associated genotypes, determining prognosis, disease monitoring following therapy, predicting imminent clinical relapse, and identifying patients who are likely (or not) to respond to new targeted inhibitor therapies.

scholarly journals Acute myeloid leukaemia: an unusual cause of biliary strictures

2019 ◽  
Vol 12 (3) ◽  
pp. e227821
Author(s):  
Adele Beck ◽  
Hannah Hunter ◽  
Simon Jackson ◽  
David Sheridan
Keyword(s):  
Bone Marrow ◽  
Obstructive Jaundice ◽  
Acute Myeloid Leukaemia ◽  
Myeloid Leukaemia ◽  
Blood Count ◽  
Extrahepatic Bile Duct ◽  
White Blood Count ◽  
Full Blood Count ◽  
Significant Past Medical History ◽  
Acute Myeloid

A 17-year-old man with no significant past medical history presented with a 2-week history of worsening jaundice, lethargy, anorexia and progressive right upper quadrant abdominal pain. There were no stigmata of chronic liver disease. Initial investigations were suggestive of cholangitis with large intrahepatic and extrahepatic bile duct strictures but otherwise normal hepatic and splenic appearances. A percutaneous transhepatic cholangiogram with the positioning of drains was performed to alleviate the obstructive jaundice. Within 2 weeks of the first presentation, full blood count revealed a significantly raised white blood count and a subsequent peripheral blood smear and bone marrow were consistent with a diagnosis of acute myeloid leukaemia. Chemotherapy was started after partial improvement of his obstructive jaundice. Complete morphological and cytogenetic remission was obtained 4 weeks after the first cycle of chemotherapy (half dose of daunorubicin and full dose of cytarabine, treated off trial) on control bone marrow. The patient remains in remission.

scholarly journals Tubulointerstitial Nephritis and Uveitis Syndrome with non Caseating Granuloma in Bone Marrow Biopsy

2014 ◽  
Vol 27 (2) ◽  
pp. 268 ◽  
Author(s):  
Maria Fraga ◽  
Maria João Nunes da Silva ◽  
Margarida Lucas ◽  
Rui M. Victorino
Keyword(s):  
Bone Marrow ◽  
Weight Loss ◽  
Clinical Practice ◽  
Bone Marrow Biopsy ◽  
Interstitial Nephritis ◽  
Tubulointerstitial Nephritis ◽  
Rare Condition ◽  
Blood Tests ◽  
Caseating Granuloma ◽  
History Of

<p>The Tubulointerstitial Nephritis and Uveitis syndrome is a very rare condition, probably under-diagnosed in clinical practice. It is<br />characterized by the combination of an interstitial nephritis and uveitis, and is an exclusion diagnosis. Tissue non caseating granuloma can be rarely present, with only 6 cases reported on bone marrow. We present a case of a 55 year old female with a 3-month history of asthenia and weight loss. Blood tests showed anemia and renal insufficiency. Renal biopsy revealed interstitial nephritis and the bone marrow biopsy showed caseating granuloma. One month later anterior uveitis of the left eye appeared. An extensive exclusion of all possible causes allowed a diagnosis of Tubulointerstitial Nephritis and Uveitis syndrome with caseating granuloma in bone marrow. As ocular and renal manifestations may not occur simultaneously, Tubulointerstitial Nephritis and Uveitis Syndrome should be systematically considered in cases of interstitial nephritis and/or uveitis, and tissue granulomas can be part of this rare syndrome.</p>

Chronic Myeloid Leukemia: Clinical and Laboratory Features At Presentation To a Referral Hospital In Southern Nigeria

Blood ◽  
2013 ◽  
Vol 122 (21) ◽  
pp. 5174-5174 ◽  
Author(s):  
Kaladada I. Korubo ◽  
Hannah Emmanuel Omunakwe ◽  
Chijioke A. Nwauche
Keyword(s):  
Bone Marrow ◽  
Retrospective Study ◽  
Clinical Features ◽  
Blood Count ◽  
Bone Marrow Aspirate ◽  
Philadelphia Chromosome ◽  
Molecular Techniques ◽  
Full Blood Count ◽  
Laboratory Parameters ◽  
Wbc Count

Abstract Background Chronic Myeloid Leukaemia (CML) is one of the commonly diagnosed leukaemias and has been extensively studied, making it the first malignancy to have a constant identified mutation present which is relevant for diagnosis. CML is also a model for targeted therapy in the treatment of cancer. Before the development of molecular techniques in diagnosis of CML, the clinical and laboratory parameters which included spleen size, total white blood cell (WBC) count, peripheral and bone marrow smears were essential in making a diagnosis of CML. In a developing country with less availability of molecular techniques of diagnosis, these parameters are still invaluable. Here we present an eight year retrospective study of patients who were diagnosed with CML in our center, which is a tertiary referral center in the Niger-Delta zone of Nigeria. Methods We carried out a retrospective study of all CML cases who presented to the department of hematology at the University of Port Harcourt Teaching Hospital, Nigeria, from the year July 2004 – June 2012. Data were extracted from patients' records and included age, sex, absence/presence & duration of symptoms, full blood count and presence of Philadelphia chromosome. Other investigations done were erythrocyte sedimentation rate, uric acid, renal and liver function tests. Diagnosis of CML was made based on clinical features, full blood count, bone marrow aspirate and karyotyping for Philadelphia chromosome where available. The data generated from the above information were analyzed with SPSS statistical package software with results expressed in statistical tables. Results A total of 105 haematological malignancies were seen between July 2004 and June 2012 of which 34 (32.4%) were CML. The mean age of presentation was 32.4 ± 16.2 years (range 19 - 75 years, median 36.5 years). There were 18 males and 16 females. The males had a lower mean age than the females (37.3 vs. 40.4 years) but this was not statistically significant (p=0.59), however the median age of males and females were the same (36 vs. 36.5 years). Males were only slightly more affected than females (male, female ratio 1.1 : 1). No patient was asymptomatic at presentation. The commonest presenting clinical features were splenomegaly (91.2%), anemia (61.8%), fever (50%) and weight loss (50%). One patient had undergone a splenectomy. Seven (20.6%) presented as incidental findings while being investigated for other reasons due to development of complications such as renal failure, hearing loss, priapism, and had a higher mean WBC of 535.7 X 109/L. All the patients presented with leucocytosis (mean 287 X 109/L, range 72-1343 X 109/L). There was no case of thrombocytopenia, but nine (26.5%) had thrombocytosis with a mean platelet count of 639.1 X 109/L. Nineteen (55.9%) had a raised ESR. Bone marrow aspirate findings of all patients typically showed increased cellularity and marked myeloid hyperplasia. Of the total 34 CML patients, 3(8.8%) presented in the accelerated phase and only 1(2.9%) in the blastic phase, majority presented in the chronic phase. Karyotyping for Philadelphia chromosome was done for 12(35.3%) and was positive in all cases. Conclusion CML represented about a third of the haematological cancers seen at our center. Our median age of presentation is lower than Caucasian values (32.4 vs ∼60 years) as reported by other African literature. The males presented at an earlier age than the women although this was not statistically significant. The clinical and laboratory parameters are comparable to international studies, though our patients had very high WBC count at presentation. We did not have any asymptomatic patient. This may be attributed to lack of awareness on the importance of routine medical checkup and evaluation in low resource countries. However, a larger multi-center study is required to corroborate these findings. Disclosures: No relevant conflicts of interest to declare.

scholarly journals Referral Pattern and Haematological Disorders in a Tertiary Hospital

2021 ◽  
Vol 4 (1) ◽  
pp. 61-69
Author(s):  
AM Onoja ◽  
AI Nwannadi ◽  
AT Onoja ◽  
IH Aba ◽  
E Jatau ◽  
...  
Keyword(s):  
Peripheral Blood ◽  
Bone Marrow Aspiration ◽  
Tertiary Hospital ◽  
Blood Film ◽  
University Teaching ◽  
Full Blood Count ◽  
Age Group ◽  
Haematological Disorder ◽  
Haematological Disorders ◽  
Very High

This study aimed to determine the pattern of referrals and haematological disorders at Benue State University Teaching Hospital. This was a retrospective study of records of a total of 222 adults and Paediatric patients suspected to have haematological disorders, seen and referred from different clinics and wards within and outside the study facility to the Haematologists for evaluation between June 2012 to July 2019 inclusive. These patients were clerked by the Haematologists, peripheral blood samples were taken for full blood count, red cell indices, reticulocyte count and peripheral blood film examination. Bone Marrow Aspiration was done on all the patients and the slides examined. Where indicated, further flowcytometry was done for complete diagnosis. Of the 222 referred, 127 (57.2%) were males while 95(42.8%) were females, with M:F ratio of 1.3:1. The age range of patients was 3 to 95 years with median age of 36.5 years. Those in the age group of 16-35 years constituted the majority 81(36.5%), while the least 5(2.3%) referred cases were in the age group of 76 years and above. The highest referral to the Haematologists was 40(18%) in 2015 and 2018 each. The bulk of referrals to the Haematologist was from Medicine 103(46.4%), followed by referrals from General Outpatient Department (GOPD) 29(13.1%) and then Paediatrics 27(12.2%), the least was from Ear Nose and Throat (ENT). The main indication for referral was Unexplained Anaemia 68(30.6%), followed by Splenomegaly 26(11.7%). One hundred and eighty (81.1%) of the total referred cases had at least an established haematological disorder. The most common haematological disorder established from the total referred cases was Combined Iron Deficiency Anaemia and Megaloblastic Anaemia (IDA/MA) 52(23.4%). This was followed by Chronic Lymphocytic Leukaemia (CLL) 23(10.4%). In conclusion, referrals from other physicians to the Haematologists have very high likelihood of haematological disorder. We recommend that attending Haematologists treat all referred cases with very high index of suspicion so as not to miss a potentially life threatening haematological disorder.

scholarly journals Two Cases of Severe Hypertension in JAK2 Mutation-Positive Myeloproliferative Neoplasms

2020 ◽  
Vol 2020 ◽  
pp. 1-6
Author(s):  
Raunak Rao ◽  
Spoorthy Kulkarni ◽  
Ian B. Wilkinson
Keyword(s):  
Bone Marrow ◽  
Renal Artery ◽  
Renal Artery Stenosis ◽  
Bone Marrow Biopsy ◽  
Blood Count ◽  
Severe Hypertension ◽  
Myeloproliferative Neoplasms ◽  
Artery Stenosis ◽  
Full Blood Count ◽  
Jak2 Mutation

Background. Myeloproliferative neoplasms are a heterogeneous group of disorders resulting from the abnormal proliferation of one or more terminal myeloid cells—established complications include thrombosis and haemorrhagic events; however, there is limited evidence to suggest an association with arterial hypertension. Herein, we report two independent cases of severe hypertension in JAK2 mutation-positive myeloproliferative neoplasms. Case Presentations. Case 1: a 39-year-old male was referred to our specialist hypertension unit with high blood pressure (BP) (200/120 mmHg), erythromelalgia, and headaches. We recorded elevated serum creatinine levels (146 μM) and panmyelosis. Bone marrow biopsy confirmed JAK2-mutation-positive polycythaemia vera. Renal imaging revealed renal artery stenosis. Aspirin, long-acting nifedipine, interferon-alpha 2A, and renal artery angioplasty were employed in management. BP reached below target levels to an average of 119/88 mmHg. Renal parameters normalised gradually alongside BP. Case 2: a 45-year-old male presented with high BP (208/131 mmHg), acrocyanosis, (vasculitic) skin rashes, and nonhealing ulcers. Fundoscopy showed optic disc blurring in the left eye and full blood count revealed thrombocytosis. Bone marrow biopsy confirmed JAK2-mutation-positive essential thrombocytosis. No renal artery stenosis was found. Cardiac output was measured at 5 L/min using an inert gas rebreathing method, providing an estimated peripheral vascular resistance of 1840 dynes/s/cm5. BP was well-controlled (reaching 130/70 mmHg) with CCBs. Conclusions. These presentations highlight the utility of full blood count analysis in patients with severe hypertension. Hyperviscosity and constitutive JAK-STAT activation are amongst the proposed pathophysiology linking myeloproliferative neoplasms and hypertension. Further experimental and clinical research is necessary to identify and understand possible interactions between BP and myeloproliferative neoplasms.

Revisiting Mastocytosis in Adults: A Mayo Clinic Case Series of 342 Patients Including Information on KITD816V and JAK2V617F.

Blood ◽  
2008 ◽  
Vol 112 (11) ◽  
pp. 1757-1757
Author(s):  
Ken-Hong Lim ◽  
Ayalew Tefferi ◽  
Terra L Lasho ◽  
Christy Finke ◽  
Chin Yang Li ◽  
...  
Keyword(s):  
Decision Making ◽  
Bone Marrow ◽  
Weight Loss ◽  
Mast Cell ◽  
Prognostic Value ◽  
Who Classification ◽  
Clinical Decision Making ◽  
Clinical Decision ◽  
Age At Diagnosis ◽  
History Of

Abstract Background: Systemic mastocytosis (SM) has a varied presentation ranging from indolent forms with limited morbidity over many years to the rapidly fatal mast cell leukemia (MCL). This heterogeneity complicates clinical decision making regarding choice and timing of therapy. The aim of this study was to evaluate the prognostic value of the 2001 World Health Organization (WHO) classification of SM, and to refine risk stratification within SM sub-groups to facilitate clinical decision making. Information on KITD816V and JAK2V617F mutation analysis and clinical correlates is also provided. Methods: Patient records in the institutional electronic database from January 1976 to October 2007 were reviewed and SM patients 18 years of age or older identified; the date of diagnosis ranged from July 1964 to October 2007. Only those patients where diagnosis was confirmed by bone marrow (BM) histology were included in the analysis. KITD816V mutation analysis was performed by DNA sequencing. JAK2V617F was screened by allele-specific quantitative PCR analysis. Results: i. Clinical characteristics at presentation: A total of 342 SM patients were identified (154 female; median age at diagnosis=57 years; range 19 to 87 years). Per the 2001 WHO classification, 159 had indolent SM (ISM; median age=49 years), 41 aggressive SM (ASM; median age=65 years), 138 SM with associated clonal hematological non-mast cell lineage disease (SM-AHNMD; median age=65 years), and 4 MCL (median age=55 years) (p-value for age &lt;0.0001). 140 (41%) patients had urticaria pigmentosa (UP) (63% with ISM; p&lt;0.0001), 160 (47%) mast cell (MC) mediator release symptoms (69% with ISM; p&lt;0.0001), 107 (31%) skeletal symptoms, and 142 (42%) constitutional symptoms (61% with ASM/SM-AHNMD versus 19% with ISM; p&lt;0.0001). 123 patients (36%) had palpable splenomegaly (57% with SM-AHNMD; p&lt;0.0001). 56 patients (16%) exhibited prominent eosinophilia (absolute eosinophil count &gt;1500/mcl) – 31% and 22% with SM-AHNMD and ASM, respectively, versus 3% with ISM (p&lt;0.0001); 12 of 23 patients (52%) with eosinophilia who were tested carried the FIP1L1-PDGFRA mutation. Serum tryptase (normal &lt;11.5 ng/mL) was measured in 160 patients (47%) and almost all (96%) had an elevated level (median=64 ng/mL; range=4 to 2000 ng/mL; 33 patients had &gt;200 ng/mL). ii. Disease course and prognostic factors After a median follow-up of 20.7 months (range=0–417), 153 deaths were recorded. 17 patients (5%) transformed to acute myeloid leukemia (AML; n=14) or MCL (n=3), most frequently with SM-AHNMD (11% versus 0% for ISM; p&lt;0.0001). The median overall survival was 63 months (ISM=198 months, ASM=41 months; SM-AHNMD=24 months, and MCL=2 months; p&lt;0.0001). Multivariate analysis of parameters at the time of diagnosis showed a significant and independent association between inferior survival and WHO sub-type (p&lt;0.0001), age at diagnosis (p&lt;0.0001), history of weight loss (p=0.01), anemia (p=0.007), thrombocytopenia (p=0.0008), hypoalbuminemia (p=0.0008), and excess BM blasts (&gt;5%; p=0.004). A similar analysis in ISM identified anemia (p=0.04), hypoalbuminemia (P=0.002), and BM MC ≥ 30% (p=0.03) as independent predictors of inferior survival; the corresponding parameters in ASM were age at diagnosis (p=0.002) and history of weight loss (p=0.003). iii)KITD816V andJAK2V617F analysis Archived bone marrow was available in 165 patients for KITD816V and JAK2V617F analysis. By DNA sequencing, overall KITD816V detection rate was 28%: ISM 20%, ASM 29%, SM-AHNMD 33% (p=0.4). In patients with ASM (p=0.003) and SM-AHNMD (p=0.001), detection of KITD816V was associated with inferior survival. Greater than 1% (range 1–57) JAK2V617F allele burden was detected in 6 patients (4%); all belonged to SM-AHNMD including 4 with non-MC lineage myeloproliferative neoplasm. Conclusions: The current study confirms the prognostic value of the WHO subclassification of SM and identifies advanced age, weight loss, anemia, thrombocytopenia, hypoalbuminemia, and excess BM blasts as additional adverse prognostic factors. In ISM, presence of anemia, hypoalbuminemia, or BM MC ≥ 30% is associated with inferior survival. In ASM and SM-AHNMD, BM KITD816V allele burden might influence survival. JAK2V617F is rare in SM and when found, it is almost always in the context of SM-AHNMD.

Sign in / Sign up

Export Citation Format

Share Document