Acute Leukemia Presenting Research Articles

Extramedullary Acute Undifferentiated Leukemia Presenting in the Skin and Lymph Nodes

Extramedullary Acute Undifferentiated Leukemia Presenting in the Skin and Lymph Nodes

Subcutaneous Sweet syndrome as an initial presentation of acute myelogenous leukemia – A case report

Subcutaneous Sweet syndrome as an initial presentation of acute myelogenous leukemia – A case report

Lumbosacral Radiculopathy as a Rare Extramedullary Presentation of Recurrent Acute Myelogenous Leukemia (P11-11.003)

Lumbosacral Radiculopathy as a Rare Extramedullary Presentation of Recurrent Acute Myelogenous Leukemia (P11-11.003)

Unusual Presentation of Childhood Acute Lymphocytic Leukemia Initially Presented As a Frontal Headache: Case Report

Unusual Presentation of Childhood Acute Lymphocytic Leukemia Initially Presented As a Frontal Headache: Case Report

The Outcome of Patients with Leukemia Presenting with Hyperleukocytosis Requiring Leukapheresis. The Experience of King Fahad Specialist Hospital in Dammam, Saudi Arabia

Background: Patients with acute and chronic leukemia presenting with hyperleukocytosis are at risk of developing leukostasis which has serious and life-threatening complications. Leukapheresis is usually performed to reduce the complications of leukostasis in patients presenting with hyperleukocytosis and clinical manifestations compatible with leukostasis. Methods and materials: A retrospective study of patients with acute and chronic leukemia who received leukapheresis for hyperleukocytosis between the 1st of January 2013 and the 31st of December 2023 at King Fahad Specialist Hospital (KFSH) in Dammam, Saudi Arabia was performed. Results: Over a period of 11 years, a total of 50 patients with acute and chronic leukemia presenting with hyperleukocytosis and clinical manifestations of leukostasis; 32 patients with acute leukemia (AL) and 18 patients with chronic myeloid leukemia (CML); received leukapheresis at our institution. Among the 32 patients with AL who received leukapheresis, 24 patients (75%) had acute myeloid leukemia (AML), 7 patients (21.88%) had acute lymphoblastic leukemia (ALL) and 1 patient (3.13%) had bilineage acute leukemia (BAL). At presentation of their AL: 3 patients (9.38%) had fever, 9 patients (28.13%) had infections, 4 patients (12.5%) had palpable spleen or liver, 6 patients (18.75%) had palpable external lymph nodes, and 9 patients (28.13%) had extramedullary disease (EMD). After receiving induction and consolidation cycles of chemotherapy, 11 patients (34.38%) of AL patients received allogeneic hematopoietic stem cell transplantation (HSCT). At the end of the follow-up, 17 patients (53.1%) with AL were alive while 15 patients (46.9%) were dead. The 8-year overall survival (OS) for all patients with AL subjected to leukapheresis was 47%. The 5 years OS for patients with AL who subsequently received HSCT and those who did not receive allogeneic HSCT were 70% and 40% respectively. The mean white blood cell (WBC) count of CML patients subjected to leukapheresis was 465.5 × 109/L, 11 patients (61.11%) had clear signs of leukostasis, and 8 patients (44.44%) had splenomegaly at presentation. Regarding the disease stage at presentation, 14 CML patients (77.78%) had chronic phase (CP), 2 patients (11.11%) had accelerated phase (AP) and 2 patients (11.11%) had blast phase (BP). Regarding the fate of CML patients at the end of the study were: 15 (83.33%) were alive, 1 (5.56%) dead, and 2 (11.11%) were unknown as they lost follow-up. However, the 10-year OS of patients with CML subjected to leukapheresis was 90%. Conclusion: Patients with acute or chronic leukemia presenting with hyperleukocytosis and either ongoing or impending leukostasis should have urgent cytoreductive chemotherapy and leukapheresis to prevent life-threatening complications. Although the outcome of AL patients presenting with leukostasis is generally poor, prompt cytoreductive therapy and leukapheresis, followed by induction chemotherapy and allogeneic HSCT may improve the outcome. Also, urgent cytoreduction including leukapheresis improves the outcome of patients with CML presenting with hyperleukocytosis and leukostasis.

Neurological manifestations in dogs with acute leukemia.

Canine acute leukemia is a rare hematopoietic neoplasm. Neurological abnormalities have been frequently reported in dogs with acute leukemia (AL). However, the description of the presentation and findings are limited. This study aimed to describe the clinical findings in dogs with acute leukemia presenting with neurological signs as their primary complaint. The database of a private referral hospital was searched for cases that presented to the neurological department with neurological deficits and were subsequently diagnosed with acute leukemia. Six cases were included; all had neurological clinical signs and an abnormal neurological examination. All cases had a focal neuroanatomical localisation on neurological examination (brain n = 4; spinal = 2). Out of the four dogs with a complete magnetic resonance imaging (MRI) study, there was an ill-defined infiltrative pattern with abnormal signal intensity in the central nervous system (CNS) in three dogs and the loss of grey and white matter differentiation in the brain (n = 2) and/or spinal cord (n = 2). Other MRI findings included abnormal meningeal enhancement (n = 3), changes affecting spinal nerves and epaxial muscles (n = 2), and lymphadenopathy in the field of view (n = 2). The bone marrow assessment on MRI showed evidence of signal change (n = 3), characterized by a loss of normal fat opacity and an abnormal degree of contrast enhancement. The cerebrospinal fluid (CSF) analysis of the four dogs showed an increased protein level with non-specific pleocytosis and without evidence of malignant cells. Treatment with cytotoxic medication was implemented in two dogs. The dogs diagnosed with acute leukemia had focal neuroanatomical localisation, an infiltrative CNS pattern, and bone marrow remodulation on MRI with an increase in CSF protein and negative cytology analysis.

Clinical Presentations of Acute Leukemia in Children’s Cancer Units at Al-Kuwait Hospital, Sana’a City: A Cross-Sectional Study

Clinical Presentations of Acute Leukemia in Children’s Cancer Units at Al-Kuwait Hospital, Sana’a City: A Cross-Sectional Study

The effect of the time from diagnosis to induction therapy on prognosis in patients with acute leukemia undergoing leukapheresis for symptomatic hyperleukocytosis.

Our study investigated leukapheresis's effect on delayed induction therapy outcomes in patients with acute leukemia presenting with symptomatic hyperleukocytosis. This retrospective cohort study included 30 adult patients diagnosed with acute leukemia who underwent leukapheresis for leukostasis. The patients were divided into the first 24 h and >24 h groups, according to the time from diagnosis to induction therapy (TDT). There was no significant difference between the TDT groups regarding complete remission (CR), 4-week mortality, and overall survival (OS) at a median follow-up of 409 days. Tumor lysis syndrome, disseminated intravascular coagulation, and hemoglobin levels were significant in early mortality. In univariate analysis, age, hemoglobin levels, patients' eligibility for intensive chemotherapy, and achieving CR were critical factors for OS. The study findings suggest that waiting for the clinical and laboratory results may be a safe and reasonable approach before assigning patients the best treatment option with leukapheresis.

Deep Vein Thrombosis with Diffuse Alveolar Hemorrhage: An Uncommon Presentation of Acute Leukemia

Deep Vein Thrombosis with Diffuse Alveolar Hemorrhage is an uncommon Presentation of acute Leukemia. Early diagnosis of acute respiratory failure etiology in patients with Acute Leukemia and Pulmonary Infiltrates is essential. We report a case in a 51- years old male who presented with shortness of breath & cough with blood admixed sputum with a history of right leg pain acutely. CTPA showed signs suggestive of DAH with no evidence of thromboembolism which let us evaluate him further leading to a diagnosis of DAH.

398 - A rare case of acute lymphocytic leukemia presenting with pediatric acute liver failure

398 - A rare case of acute lymphocytic leukemia presenting with pediatric acute liver failure

Cryptic switch – acute leukaemia with cytogenetically cryptic FGFR1 rearrangement and lineage switch during therapy

Objectives: Myeloid/lymphoid neoplasms with FGFR1 rearrangement are a rare group of neoplasms that share features of eosinophilia and lineage promiscuity. Firstly, we describe a case with a challenging presentation of acute leukaemia with lineage switch and cytogenetically cryptic FGFR1. Secondly, we aim to systemically review this phenomenon in published literature.

Presentations of acute leukemia among patients at National Health Laboratory, Asmara, Eritrea: A descriptive cross-sectional study

BACKGROUND: Acute leukemias are a group of potentially fatal hematological malignancies. The purpose of this study was to evaluate the clinical presentation of acute leukemia and estimate the frequency of its signs and symptoms in Asmara, Eritrea. PATIENTS AND METHODS: A retrospective cross-sectional study was conducted consecutively included all of the patients with the diagnosis of acute leukemia at the National Health Laboratory, Asmara, Eritrea, from December 2015 to July 2017. The laboratory and medical data of the patients were obtained using a structured questionnaire based on age, gender, presenting complaints, and clinical findings. RESULTS: Twenty cases who were reviewed acute lymphoblastic leukemia constituted (60%), while acute myeloid leukemia (AML) accounted for 40% of the cases studied. The female patients were more than males (55% vs. 45%). Acute leukemia mainly affected those aged 1–10 years (45%), while the least affected were those aged over 40 years (5%). Acute lymphoid leukemia mainly affects those aged 1–10 years (58.3%), while those aged 20–30 years and over 40 years are unaffected (0%). AML mainly affects those aged 1–10 years and 21–40 years (25%), while those aged 11–20 years and over 40 years being the least affected (12.5%). The most familiar presenting complaint for acute leukemia was fever (70%), followed by fatigue (40%). Splenomegaly (70%), hepatomegaly (40%), and lymphadenopathy (40%) were the most typical physical examination findings. CONCLUSIONS: Acute lymphoblastic leukemia is the most typical kind of acute leukemia affecting the people of Asmara, Eritrea. The young population suffers the most, and fever, fatigue, and pallor are the primary presenting complaints. Splenomegaly, hepatomegaly, and lymphadenopathy are the main physical examination findings among patients with acute leukemia.

Hematoma or Bleeding As Initial Presentation of Chronic Myeloid Leukemia (CML): Review

Background: Chronic myeloid leukemia (CML) is defined per the WHO 2016 classification as a myeloproliferative neoplasm characterized by the chromosomal translocation t (9; 22) (q34.1; q11.2). Patients with CML can have a very wide range of symptoms at presentation. Most patients presents as an incidental finding on a routine complete blood count (CBC). Symptoms might include B symptoms like fever, loss of weight, and night sweats. While splenomegaly is the most common initial presentation in the chronic phase, in accelerated or blast phase of CML, the presentations might resemble acute leukemia with signs and symptoms of anemia, bleeding, petechiae, and ecchymosis. Bleeding might be the initial presentation of acute leukemia; however, it is scarce for CML, especially the chronic phase, to present initially with spontaneous bleeding without coagulopathy and thrombocytopenia. The mechanism behind this rare perennation is not known up to the moment. Methods: A literature search was performed for English language articles using Medline data through PubMed, Scopus, and Google Scholar, for any date up to June 2022. The following keywords were used "CML," "spontaneous bleeding," "bleeding," and "hematoma.". We did not find any retrospective, prospective or clinical trials or reviews on this rare topic. We decided to review all the case reports and case series published in the literature and collect all the general characteristics, common findings, treatment, and outcomes Results: Thirty articles with 30 patients were included. Most of them were males, 23 (76.7%) with a median age was 40 years, and the majority were of Asian origin 13 out of 17 (76.4%). Hematoma sites were different; intracranial was most affected in 11 (36.6%) patients, followed by intraabdominal and musculoskeletal (MSK) bleeding in 9 (30%) patients each. One case was reported as an intrathoracic bleed. All the patients diagnosed with CML chronic phase except one patient in accelerated phase without thrombocytopenia and one presented with blast crisis. Coagulopathy was reported in 2 patients only. The average duration of symptoms was around 6 days, and the median white blood cell count on presentation was 232,000, while 192,000 for platelets and 8.5 gm/dL for hemoglobin. The sequel reported were bilateral deafness in 1 patient, unilateral blindness in 1 patient, and one admission to the intensive care unit. Sixteen (53%) patients received imatinib 400 mg daily. Surgery was done in 12 (40%) patients, and a similar number were treated conservatively. Documented recovery was reported in 10 (33%) patients. Overall survival was reported in 26 patients. 20 (66.6%) were alive, while 6 (33.3%) were dead. The cause of death was reported to be intracranial hemorrhage in 2 cases, sepsis in one case, and splenic rupture in one case. Conclusion: Spontaneous bleeding or hematoma as an initial presentation of CML is rare. Thrombocytopenia and coagulopathy do not explain most of the cases. We hypothesize that male sex, Asian ethnicity, and hyperleukocytosis could be a risk factors. Figure 1View largeDownload PPTFigure 1View largeDownload PPT Close modal

Acute Leukemias of Ambiguous Lineage presenting in Extramedullary Location – Unusual and Challenging Diagnoses: A Report of Two Cases

Abstract Introduction/Objective Acute leukemias of ambiguous lineage are uncommon, accounting for <1% of all leukemias, and extramedullary presentations of these leukemias are rare. Methods/Case Report We report two cases of acute leukemia of ambiguous lineage presenting in extramedullary sites. Case 1 is a 41-year-old female who presented with right cervical lymphadenopathy and fatigue. Laboratory and imaging studies showed leukopenia, anemia, and abnormal cervical, supraclavicular, axillary, mediastinal, and abdominal pelvic lymphadenopathy. Biopsy of the axillary lymph node revealed sheets of morphologic blasts. Flow cytometry showed the blasts were of mixed phenotype, with T-cell differentiation supported by CD3 and TdT, and myeloid subpopulation supported by myeloperoxidase and lysozyme. Both these populations were negative for CD10, CD20, CD4, CD8, CD34, CD138, CD1a, CD79a. The morphology and immunophenote establish the diagnosis of T/myeloid mixed-phenotype acute leukemia, not otherwise specified. Case 2 is a 65-year-old female who presented with bilateral lower extremity weakness. Multiple lytic lesions involving the thoracic and cervical spine were detected by imaging. Biopsy of a T12 vertebral lesion revealed sheets of large malignant cells. Extensive immunohistochemical workup revealed positivity for CD45 (weak), CD4, and CD43, supporting a diagnosis of hematopoietic neoplasm of likely hematopoietic origin. Subsequent evaluation eventually led to discovery of chronic myeloid leukemia in blast phase with undifferentiated blasts, BCR-ABL1 positive, originally presenting as extramedullary acute leukemia with undifferentiated blasts. Results (if a Case Study enter NA) NA. Conclusion These cases highlight the challenges of diagnosing peripheral solid tumors of unknown origin. Extramedullary presentation of acute leukemia of ambiguous lineage are particularly challenging and, although rare, include phenotypes ranging from mixed phenotype to undifferentiated types.

Acute Leukaemias in Bauchi State, Northeastern Nigeria: Pattern of Presentations and Clinical Entities

Background: Acute leukaemias are very aggressive diseases that run a rapidly fatal course if not promptly diagnosed and appropriately treated. The clinical presentations range from bone marrow failure such as anaemia, neutropenia or thrombocytopenia to features of organ infiltrations such as lymphadenopathy, splenomegaly, etc, but presentations may be non-specific. Misdiagnosis is very common with delay in diagnosis and prompt treatment being the causes of high morbidity and mortality in acute leukaemias. This study aims to determine the pattern of presentation and various clinical entities of acute leukaemias in Bauchi State, North-Eastern Nigeria.
 Subjects, materials and methods: This was a three year retrospective study in which records of cases of acute leukaemias diagnosed in the Haematology Department of Abubakar Tafawa Balewa University Teaching Hospital (ATBUTH) Bauchi from the bone marrow aspiration cytology register from 1st January, 2018 to 31st December, 2020 were collected. Data on socio-demographic characteristics of the patients that include age, gender, diagnosis as well as subtypes of some of the malignancies diagnosed were also collated. The collated data were analyzed using SPSS Version 20.0. A p-value of < 0.05 was considered significant.
 Results: Twenty-nine cases of acute leukaemias were diagnosed during the period under review. Majority of cases had acute lymphoblastic leukaemia (ALL) 19/29 (65.5%) while acute myeloid leukaemia (AML) was seen in 10/29 (34.5%). The mean ± SD age of the patients was 22.2±9.2 years with a range 6 months to 60 years. Males constituted 75.9% (22/29) of the cases of acute leukaemias diagnosed. The male to female ratios for AML and ALL were 2:1 and 2.6:1 respectively. The mean±SD ages for AML and ALL were 27±9.2years and 17.3±11.3 years respectively. The most common form of presentation of acute leukaemia in this study is recurrent anaemia necessitating blood transfusion while proptosis and epistaxis were the least forms of presentation.
 Conclusion: Acute lymphoblastic leukaemia is the commonest form of acute leukaemias while recurrent anaemia is the commonest form of clinical presentations in our setting. Early referral of patients with clinical features suggestive of acute leukaemias is recommended.
 Author
 R A Dachi 1, F G Mustapha 1, M Mahdi 1, H Abbas 2

Bilateral serous retinal detachment: An initial presentation of mixed phenotype acute leukemia in an adult

A 60-year-old female presented with acute onset painless loss of vision in both eyes. Clinical examination and ocular investigations revealed bilateral serous retinal detachments (SRDs) over the macula. There was no obvious intraocular or extraocular cause to the presentation. A blood count showed leukocytosis with the presence of blast cells on the peripheral smear. Further workup confirmed the diagnosis of Philadelphia chromosome-positive mixed phenotype acute leukemia with central nervous system disease stage three. Anatomic improvement in the SRD followed intensive intravenous and intrathecal chemotherapy. Limited functional improvement was attributed to the development of pigment epitheliopathy manifesting as leopard spot chorioretinopathy. This permanent disturbance could be attributed to leukemic infiltration and ischemia to the choroid.

Redefining Hyperviscosity in Acute Leukemia: Implications for Red Cell Transfusions

Hyperleukocytosis, most commonly defined as a white blood cell (WBC) count greater than 100,000/μL, is an emergency in acute leukemia, possibly resulting in life-threatening microvascular obstruction, or leukostasis, leading to neurologic (CNS hemorrhage, thrombosis) or pulmonary (respiratory distress, hypoxia) complications. The underlying mechanisms remain poorly understood and are canonically attributed to blood hyperviscosity secondary to high WBC count and abnormal biophysical properties of leukemia cells themselves (leukemia immunophenotype, increased cell size, adhesion, and stiffness). Leukapheresis is a commonly-used therapy for rapid cytoreduction in symptomatic patients, but the procedure carries risk and existing guidelines are supported by scant evidence. Interestingly, despite hematocrit(Hct)/hemoglobin(Hgb) levels being major drivers of blood viscosity due to the high prevalence of circulating red cells (RBCs), how Hct/Hgb mediates hyperviscosity in acute leukemia is unknown. This is clinically important as Hct/Hgb often decrease as leukemic cell counts rise, and acute leukemia patients with anemia are often transfused. While sickle cell disease guidelines advise using a target post transfusion Hct of 30% to minimize iatrogenic hyperviscosity and its morbid complications, no guidelines have been established for acute leukemia. As such, can RBC transfusion actually increase leukostasis risk in acute leukemia?To explore this question requires new biophysical tools as the complexity of blood viscosity increases substantially at the microvascular level as the physical properties of the cells themselves become the major determinants of resistance to blood flow. To that end, we developed “microvasculature-on-a-chip” devices that recapitulate microvascular biophysical and hemodynamic conditions to investigate how the differing presentations of acute leukemia and transfusion support affect the effective blood viscosity at the microvascular level to cause “in vitro leukostasis.”A multiple-vessel “multiplex” microfluidic device that operates at the appropriate size scale and mimics the microvascular geometry was designed to enable assessing accurate biophysical measurements of blood hyperviscosity. The devices were microfabricated using standard polydimethylsiloxane-based photolithography (Figure 1). Acute B-cell lymphoblastic (B-ALL, 697), acute T-cell lymphoblastic (T-ALL, Jurkat) and acute myelocytic (AML, HL60) leukemia cell lines were maintained via standard cell culture conditions. Patient samples were obtained through our institution's IRB. RBCs from healthy donors were isolated and mixed with leukemia cells to achieve target Hct/Hgb and WBC levels. Various physiologic leukemia “mixtures” were then perfused under physiologic microcirculatory flow conditions through the microvascular device and microchannels occlusion was tracked via videomicroscopy (Figure 2).Using a standard least squares multivariable linear regression with first and second order effects, microchannel size, Hct/Hgb, WBC count and leukemia cell type all showed statically significant effect on in vitro leukostasis, or microchannel occlusion over time, (all p values < 0.03) (Figure 3). Overall, severe anemia appears to be protective against in vitro leukostasis and there appears to be Hct/Hgb thresholds above which in vitro leukostasis becomes more prevalent, though this is different for B-ALL versus T-ALL. This is in contrast to AML, where severe anemia does not appear to offer protection against in vitro leukostasis as occlusion was appreciated at all Hct/Hgb levels.These data suggest when determining risk for leukostasis, WBC count and leukemia immunophenotype should not be the sole determinants. Here we show Hct/Hgb levels affect microvascular blood viscosity and risk for microvascular occlusion. These results may impact decisions regarding RBC transfusions and possibly initiation of leukapheresis in asymptomatic patients. Having a model to assess risk associated with RBC transfusions and informing clinicians when a patient might become at risk for leukostasis can have a significant impact on their clinical outcome, morbidity and mortality. Ongoing studies incorporating patient lymphoid and myeloid leukemia cells are needed to support this cell line data. [Display omitted] DisclosuresKemp: Parthenon Therapeutics: Membership on an entity's Board of Directors or advisory committees. Lam: Sanguina, Inc.: Current holder of individual stocks in a privately-held company.

A rare PALB2 germline variant causing G2/M cell cycle arrest is associated with isolated myelosarcoma in infancy

BackgroundIsolated myelosarcoma of infancy is a rare presentation of acute myelogenous leukaemia (AML). Because of its rarity and early onset in infancy underlying genetic predisposition is potentially relevant in disease initiation.Methods and ResultsWe report an oncologic emergency in an infant with thoracic and intraspinal aleukaemic myeloid sarcoma causing acute myelon compression and lower leg palsy. Whole‐exome sequencing of the patient's germline DNA identified a rare PALB2 (OMIM 610355) variant (p.A1079S), which is located in a domain critical for the gene's proper function within the homology‐directed repair pathway. In line with potential DNA damage repair defects mediated by the PALB2 deregulation, the patient's fibroblasts showed increased sensitivity towards radiation and DNA intercalating agents.ConclusionTherefore, we suggest PALB2 p.A1079S as a pathogenic variant potentially contributing to the here observed patient phenotype.

Acute Plasma Cell Leukemia Presenting as Primary Hyperammonemic Encephalopathy

Primary plasma cell leukemia (PPCL) is a rare form of multiple myeloma (MM) and is a rare aggressive disease with a median overall survival of 6 - 11 months. We present a case of acute hyperammonemic encephalopathy as the initial presentation of PPCL in a 78-year-old woman to highlight an atypical presentation of this disorder. J Med Cases. 2020;11(10):320-323 doi: https://doi.org/10.14740/jmc3559

Pediatric acute lymphocytic leukemia presenting with vertebral compression fractures: A case report

Pediatric acute lymphocytic leukemia presenting with vertebral compression fractures: A case report