Manifestation Of Acute Myeloid Leukemia Research Articles

Small Intestinal Obstruction with Intussusception due to Acute Myeloid Leukemia: A Case Report

Myeloid sarcoma is known to precede the development of acute myeloid leukemia (AML) and can be the only clinical manifestation. Gastrointestinal involvement by AML is rare with the commonest site being small intestine. Patients present with vague abdominal pain and/or obstruction. Prognosis is usually poor as most of them rapidly progress to AML. We report a case of 25-year-old man with complaints of abdominal pain and vomiting of one-year duration. OGD scopy revealed infiltration of lesser curvature of stomach. Subsequently patient came back within a week with signs and symptoms of acute intestinal obstruction for which an ileal resection was done. Although the histology of stomach biopsy and ileal segments showing similar features were thought to be non-Hodgkin's lymphoma, immunohistochemistry confirmed the diagnosis of myeloid sarcoma. Bone marrow investigations confirmed involvement by AML. Patient succumbed to the disease due to extensive involvement of AML. This case highlights the primary gastrointestinal manifestation of AML which can often prove to be a diagnostic difficulty clinically and histologically. Prompt diagnosis is essential to hasten the management.

Hypereosinophilia in relapsed acute myeloid leukaemia

A 77-year-old woman presented with fever, sore throat, weakness and dizziness. A full blood count (FBC) showed a haemoglobin concentration (Hb) of 83 g/l, white blood cell (WBC) count of 3AE1 · 10/l, neutrophil count of 0AE22 · 10/l and a platelet count of 288 · 10/l. Physical examination was unremarkable. A bone marrow aspirate was hypercellular with increased blasts (top left). Cytogenetic analysis showed t(8;21)(q22;q22) and a diagnosis of t(8;21) acute myeloid leukaemia (AML) was made. The patient was started on reduced dose azacitidine and achieved complete haematological and cytogenetic remission after the completion of three cycles of therapy. Before the initiation of the 7th cycle of azacitidine, the patient was hospitalized with fever, cough and a chest radiograph suggestive of aspiration pneumonia. The FBC showed Hb 89 g/l and WBC count 11AE5 · 10/l with marked eosinophilia (7AE32 · 10/l). A complete clinical and serological work-up excluded reactive conditions, such as drug-induced eosinophilia, atopy, autoimmune disorders and parasitic or fungal infection. Also, the serum interleukin 5 level was normal. A peripheral blood film (top right) showed 2% blasts and bone marrow examination (core biopsy, bottom left; aspirate film, bottom right) showed relapse with increased eosinophils. Cytogenetic analysis identified t(8;21)(q22;q22) without additional cytogenetic abnormalities. FIP1L1-PDGFRA fusion was not detected by fluorescence in situ hybridization. Azacitidine was increased to full dose and corticosteroids were added. Over the next few weeks the patient began to show improvement with resolution of the eosinophilia and a decrease in circulating blasts. This case illustrates marked peripheral blood and bone marrow eosinophilia in the setting of relapsed t(8;21) AML, without evidence of secondary causes or clonal evolution. Remarkably, the patient had only slight marrow eosinophilia at initial presentation. Although eosinophilia is not an uncommon feature of corebinding factor AML, we are aware of only one previous report of relapsed t(8;21) AML presenting with eosinophilia when it was not present to a significant degree at initial presentation [Partridge, F., Richardson, W., Kearns, P., Wilcox, R. & Majumdar G. (1996) Marked bone marrow eosinophilia at the time of relapse of acute myeloblastic leukaemia in association with the appearance of translocation t(12;20)(q24;q11). Leukemia and Lymphoma, 22, 181–182]. In the previous report, the relapsed AML had acquired a secondary genetic abnormality in the form of t(12;20)(q24;q11). Absolute eosinophilia to this degree is uncommon as a manifestation of AML with t(8;21), either at presentation or relapse.

Granulocytic Sarcoma of the Knee and the Spine as Aleukemic Relapse of Acute Myeloid Leukemia in a Child

Granulocytic sarcoma is a very rare disease in childhood, which may precede the clinical manifestations of acute myeloid leukemia or may occur as a relapse of a nonleukemic acute myeloid leukemia. It is a malignant, solid tumor consisting of myeloblasts or immature myeloid cells occurring in extramedullary sites. We report interesting magnetic resonance images of a nonleukemic relapse of acute myeloid leukemia in a child presenting as a granulocytic sarcoma unusually localized to the knee and spine.

18F-FDG-PET/CT for detection of extramedullary acute myeloid leukemia

Myeloid sarcoma in acute myeloid leukemia has been clearly defined by the World Health Organization but studies regarding the prevalence and the prognostic impact of extramedullary acute myeloid leukemia have not been conducted. We performed (18)Fluoro-deoxy-Glucose Positron Emission Tomography/Computed Tomography scans in 10 patients with de novo and relapsed acute myeloid leukemia and histologically proven extramedullary disease. The scans were able to detect the known extramedullary lesions in 9 out of 10 patients (90%). Furthermore, additional extramedullary sites were detected in 6 patients (60%). Thus, it is possible to identify known and clinically undetectable extramedullary manifestations of acute myeloid leukemia. Since most of these patients relapsed within a short period of time after initiation of therapy or had refractory disease, the detection of extramedullary disease with (18)Fluoro-deoxy-Glucose Positron Emission Tomography/Computed Tomography might be helpful in the development of individual treatment algorithms for these high-risk patients.

Spontaneous Splenic Rupture As First Manifestation of Acute Myeloid Leukemia: Case Report and Review of Literature

Spontaneous Splenic Rupture As First Manifestation of Acute Myeloid Leukemia: Case Report and Review of Literature

Gingival leukemic infiltration as the first manifestation of acute myeloid leukemia

Oral signs may be indicative of serious systemic dis-eases. Leukemic infiltration of the gums as the first sign ofleukemia has been rarely reported in the literature, but thistype of oral manifestation requires rigorous evaluation onthe part of the dental professional to provide a diagnosis andreferral for therapy. This case report was submitted andapproved by the Brazilian National Commission on Ethics.A 43-year-old white man was first seen with a complaintof intermittent fever that had been present for 15 days. Healso presented with head and neck lymphadenopathy, rapidweight loss, an increase in volume throughout the length of the marginal gingiva of upper and lower jaws, and his maincomplaint, spontaneous gingival bleeding of moderate in-tensity (Fig 1). After clinical examination, some diagnostichypotheses to gingival lesions were suggested, such as ne-crotizing acute gingivitis, opportunistic infection caused byAIDS, or extramedullary leukemic infiltrate. Additionaltests were required, and panoramic X-ray of the jaw showedno evidence of periodontal resorption. Enzyme-linked im-munosorbent assay test was not reagent and the hemogramconfirmed hemoglobin, 10.5 g/dL; hematocrit, 30.3 percent;leukocytes, 153,000/L with 13 percent of blasts; and plate-lets, 73,000/L.The patient was referred to the hematology monitoring teamand underwent a bone marrow biopsy and incisional biopsy ofthe gingiva. The bone marrow biopsy was conclusive for acutemyeloid leukemia (M5), and histopathological examination ofthe gingival biopsy revealed a mucosa fragment in which theconnective tissue showed a diffuse and hypercellular infiltrate

Bilateral proptosis and bitemporal swelling: A rare manifestation of acute myeloid leukemia

Background:In Acute Myeloid Leukemia (AML), malignant clones of immature myeloid cells (primarily blasts) proliferate, replace bone marrow, circulate in blood and invade other tissues. The unique presentation of bilateral proptosis and bilateral temporal swelling in AML is being reported.Case Report:A 6-year-old girl presented with low-grade fever, progressively increasing bitemporal swelling and bilateral proptosis. Contrast Enhanced Computed Tomographic (CECT) images revealed enhancing infiltrates occupying the lateral orbital wall, causing proptosis. The infiltrate extended toward the bilateral temporal fossae beneath the temporalis muscle and extradurally beneath the frontal and temporal bones. A high total leucocytic count with immature and deformed cells and, Fine Needle Aspiration Cytology (FNAC) from the temporal swelling, the bone marrow aspirate and biopsy showing leukemic blast cells confirmed the diagnosis of AML. Chemotherapy brought about remission of the disease.Conclusions:To the best of the authors’ knowledge, simultaneous presence of both bilateral proptosis and bitemporal swellings have not been previously reported in AML. A peripheral blood smear with bone marrow aspirate and biopsy help in the early detection of AML. Institution of early intervention in this potentially fatal disease is often associated with gratifying survival rates.

A Case of Pathologic Splenic Rupture as the Initial Manifestation of Acute Myeloid Leukemia M2

A pathologic splenic rupture refers to a rupture without trauma. A splenic rupture as the initial manifestation of acute myeloid leukemia is extremely rare. In this study, we described a rare case of acute myeloid leukemia presenting principally as an acute abdomen due to a pathologic splenic rupture in a 35-year old male patient. We can assert that a pathologic splenic rupture in hematologic diseases is a potentially life-threatening complication, which necessitates immediate operative intervention. Any such patient complaining about left upper abdominal tenderness should be closely observed, and further diagnostic investigations (ultrasonograph of the abdomen, abdominal CT scan) should be initiated in order to rule out a splenic rupture. The oncologist should be aware of this rare initial presentation of acute myeloid leukemia (AML) M2, as the condition generally necessitates a prompt splenectomy.

Diagnostic confusion resulting from CD56 expression by cutaneous myeloid sarcoma

Myeloid sarcomas are tumor masses composed of aggregates of malignant myeloid precursors in extramedullary sites including the skin. We report a case of myeloid sarcoma in a patient who presented with an ear lobe mass and facial nerve paralysis. Expression of CD56 by the malignant cells led to an initial misdiagnosis as Merkel cell tumor. Comprehensive pathological evaluation confirmed the diagnosis of myeloid sarcoma with aberrant expression of CD56 and carrying the translocation t(8;21) (q22;q22). Aberrant antigen expression by cutaneous myeloid sarcomas can cause diagnostic confusion with other cutaneous neoplasms. This is especially relevant when myeloid sarcoma is the sole manifestation of acute myeloid leukemia.

Hypereosinophilia with a low blast count as the initial manifestation of acute myeloid leukaemia with RUNX1‐RUNX1T1

A 35-year-old previously healthy woman presented with a two-week history of fatigue and reduced general health. On examination she had mild petechiae on the lower extremities and slight splenomegaly. The full blood count on admission showed a hyporegenerative anaemia, thrombocytopenia and marked leucocytosis (haemoglobin 84 g/l, platelet count 46 · 10/l and white cell count 71 · 10/l). Microscopy showed marked eosinophilia (29 · 10/l) and neutrophilia (40 · 10/l) with dysplastic changes in both lineages (top left). Granulocytic and eosinophilic precursors were rare in the peripheral blood and the blast count was 2%. A clinical workup showed no evidence of organ involvement due to hypereosinophilia. Bone marrow examination demonstrated marked hypercellularity with eosinophilic and granulocytic proliferation and a blast count of 5% without Auer rods or marrow fibrosis (bottom left). Molecular analysis for FIP1L1-PDGFRA, BCR-ABL1 and JAK2 V617F was negative. Cytogenetic analysis identified t(8;21)(q22;q22) as a sole aberration in 20 metaphases, which was confirmed by the presence of a RUNX1RUNX1T1 fusion transcript on quantitative PCR (top right). As the clinical condition of the patient improved following red blood cell transfusions, and because of the low blast count, chemotherapy was withheld and the patient was closely monitored for disease progression. Three months after the initial diagnosis, she developed a rapidly progressive paraneoplastic exudative erythema multiforme. Disease progression was confirmed by the increasing blast counts in the peripheral blood and the bone marrow (>20%, bottom right) and chemotherapy was started. Complete morphological remission was obtained after the first cycle of chemotherapy, but the RUNX1-RUNX1T1 fusion transcript persisted after three cycles and she was treated by allogeneic haematopoietic stem cell transplantation from an unrelated donor. This case illustrates that, despite a low initial blast cell count, in the absence of chemotherapy t(8;21)/RUNX1-RUNX1T1associated leukaemia shows early progression. In accordance with the World Health Organization criteria, the appropriate diagnosis at presentation in such patients, irrespective of the blast count in the peripheral blood or bone marrow, is acute myeloid leukaemia with recurrent cytogenetic abnormality, not chronic eosinophilic leukaemia.

Cutaneous vasculitis as a presenting manifestation of acute myeloid leukemia

One of the rare causes of secondary vasculitides is malignancy. Hematological malignancies produce secondary vasculitis more frequently than solid malignancies. Here in we report a case of acute myeloid leukemia presenting with anti-neutrophil cytoplasmic antibody-positive vasculitis. This case highlights the importance of looking for underlying malignancies, especially leukemias in patients presenting with features of systemic vasculitides.

Extramedullary leukemia in children presenting with proptosis

BackgroundWe highlight the orbital manifestations of acute myeloid leukemia and the role of peripheral blood smear in the diagnosis of these cases. A total of 12 patients who presented with proptosis and were subsequently diagnosed to have acute myeloid leukemia based on incision biopsy or peripheral blood smear were included in the study.ResultsA retrospective review of all cases of acute myeloid leukemia presenting to the Orbital clinic was performed. The age at presentation, gender, presenting features, duration of symptoms and fundus features were noted. In addition the temporal relationship of the orbital disease to the diagnosis of leukemia, laterality, location of the orbital mass, imaging features and the diagnostic tools used to diagnose leukemia were noted. The median age at presentation was 6 years. The male: female ratio was 0.7:1. None of these patients had been diagnosed earlier as having acute myeloid leukemia. The presenting features included proptosis in all patients, orbital mass in 5 (41.7%), visual symptoms in 2 (16.7%) and subconjunctival hemorrhage in one patient (8.3%). A diagnosis of acute myeloid leukemia was established by incision biopsy in 4 patients, subsequently confirmed by peripheral blood smear testing and bone marrow biopsy in 2 patients which revealed the presence of systemic involvement. Imprint smears of the biopsy identified blasts in 2 of 4 cases. In 8 patients presenting with ocular manifestations, diagnosis was established by peripheral blood smear examination alone which revealed a diagnosis of acute myeloid leukemia.ConclusionA peripheral blood smear should be performed in all cases of sudden onset proptosis or an orbital mass in children and young adults along with an orbital biopsy. It can always be complemented with a bone marrow biopsy especially in cases of aleukemic leukemia or when the blood smear is inconclusive.

Unusual case of paraplegia

Paraplegia due to a spinal cord epidural mass is an extremely rare presentation of undiagnosed leukemia. We are reporting a case of 14-year-old girl, who presented with paraplegia due to thoracic epidural mass, as the initial presenting manifestation of acute myeloid leukemia. Granulocytic sarcoma or chloroma should be considered in the differential diagnosis of an epidural mass in patients with or with out leukemia granulocytic sarcoma, which are rare extramedullary tumor-like proliferation of myelogenous precursor cells that may de novo precede acute leukemia or coincide with the first manifestation or relapse of acute myeloid leukemia.

Spinal Epidural Granulocytic Sarcoma in a Child Precedent to Clinical Manifestation of Acute Myeloid Lymphoma -Case Report-

A 13-year-old boy presented with an epidural thoracic granulocytic sarcoma manifesting as rapidly progressive paraplegia preceding clinical manifestation of acute myeloid leukemia (AML). Magnetic resonance imaging revealed a thoracic epidural tumor. He underwent emergent laminectomy and the tumor was totally resected. The initial histological diagnosis was malignant lymphoma. The correct diagnosis of epidural granulocytic sarcoma and AML was established based on cell-surface markers and a chromosomal study of the bone marrow cells. A combination of chemotherapy and bone marrow transfusion achieved complete remission of leukemia. No evidence of AML has emerged over the 18-month follow-up period. Granulocytic sarcoma should be considered in the differential diagnosis of an epidural mass in pediatric patients with or without acute leukemia. Immediate diagnosis and appropriate treatment are recommended to prevent leukemic transformation.

Orbital Tumour as Initial Manifestation of Acute Myeloid Leukemia: Granulocytic Sarcoma: Case Report

We report orbital involvement as an initial manifestation of acute myeloid leukemia in a 57-year-old woman. The patient presented with painful proptosis and limited ocular motility. Orbital computed tomography revealed bilateral homogeneous masses. Orbital biopsy was performed on the right side; and histopathology disclosed a myelocytic tumour. Despite treatment using irradiation and chemotherapy, the patient died eleven months after presentation. There appear to be only a few previous reports of acute myeloid leukemia cases presenting with orbital involvement, and most cases occurred in children. This very rare condition has a poor survival prognosis, even with radiation treatment and chemotherapy.

Solitary Preleukemic Granulocytic Sarcoma as a Cause of Small Bowel Obstruction

Granulocytic sarcoma is an extramedullary tumor composed of immature granulocytic cells. These tumors usually occur simultaneously with or follow after the onset of acute myeloid leukemia (AML) or other myeloproliferative disorders. Rarely, it is the first manifestation of AML which appears several months before the onset of leukemia. We report a case of a 48-year-old man presenting with symptoms of small bowel obstruction. Laparotomy and open biopsy were performed. Immunohistochemical studies showed that the neoplastic cells were of myeloid lineage positive for myeloperoxidase and leukocyte common antigen, but negative for CD3, 20, 56, 79a, and cytokeratin. Initially, there was no evidence of blood or bone marrow involvement suggesting acute leukemia or other myeloproliferative disorders. The findings were consistent with the diagnostic findings of solitary granulocytic sarcoma (preleukemic). However, one month later, bone marrow biopsy revealed 57% myeloblasts. Sequentially, the patient developed FAB M2 acute myeloid leukemia. Induction chemotherapy including cytarabine and idarubicine was done which led to complete remission. Allograft bone marrow transplantation was performed later, and there is no evidence of recurrence till present.

Bilateral orbital myeloid sarcoma as initial manifestation of acute myeloid leukemia

Granulocytic sarcoma is a rare orbital complication of acute leukemia. It concerns primarily children under 10 years of age suffering from primitive acute myeloid leukemia. The diagnosis is made by clinical examination, computed tomography and confirmed by haematological investigations. The treatment approach is based on chemotherapy associated with intravenous steroid therapy. We report the case of a 6-year-old girl who presented with bilateral proptosis revealing acute myeloid leukemia. The patient was treated by a combination of chemotherapeutic drugs in two phases, associated with intravenous steroids. After a follow-up period of 24 months, the patient was in complete remission. The diagnosis of granulocytic sarcoma should be considered in any orbital mass of uncertain origin, particularly if it is bilateral. Special stains and immunohistochemistry play an important role in the diagnosis.

Cytogenetics detects infiltrations of a primary cutaneous acute myeloid leukemia to the kidney

Extramedullary manifestations of acute myeloid leukemia (AML) are rare and commonly involve one tissue. We report of a cutaneous acute myelomonocytic leukemia infiltrating the kidney next to the skin. A 61-year-old female patient with complex karyotype cutaneous AML FAB M4 underwent abdominal computed tomography scans. A lesion in her left kidney appeared suspicious of renal carcinoma as confirmed by histology. However, fluorescence in situ hybridization cytogenetics revealed a chromosome 11q23 abnormality in the nephrectomy specimen, which also appeared in the leukemic blasts of skin and bone marrow. Closer histomorphologic workup revealed an infiltration of the kidney with leukemia. This case report illustrates how modern diagnostic procedures can help to reveal rare sites of disease.

Relapsing acute myeloid leukaemia manifesting as uveitis with hypopyon

A 5-year-old boy presented with a history of recurrent cough, lethargy and weight loss. On examination he had generalised lymphadenopathy, hepatosplenomegaly and bilateral pleural effusions. His full blood count at diagnosis was: haemoglobin 98 g/l, white cell count 138 × 109/l and platelet count 43 × 109/l. Bone marrow examination confirmed acute myeloid leukaemia and a cerebrospinal fluid cytospin was clear. Cytogenetic analysis showed 46,XY,der (1) t (1;1) (p36;q2?3) and trisomy 8. Pleural fluid aspirate was consistent with leukaemic infiltration. He was treated with chemotherapy, according to the protocol of the Acute Myeloid Leukaemia 15 trial, into which he was entered. He achieved complete morphological and cytogenetic remission post-induction phase. He re-presented with an 8-day history of left eye pain and low-grade temperature of 37·5°C. His full blood count was as follows: haemoglobin 119 g/l, white cell count 9·2 × 109/l and platelet count 268 × 109/l. He was prescribed neomycin eye ointment and oral cephalexin. He continued to deteriorate with worsening left eye symptoms, photophobia, lethargy and feeling generally unwell. He was reviewed by an ophthalmologist and was found to have an inflamed sclerae and marked inflammatory activity at the anterior chamber with a 2–3 mm hypopyon. He was re-examined under a general anaesthetic and was found to have corneal oedema of the left eye with a markedly thickened pale iris with dilated circumferential vessels; a clinical diagnosis of leukaemic infiltration of the iris was made (right and left panel). A diagnostic tap was felt to be unnecessary. A bone marrow aspirate and lumbar puncture were performed and confirmed bone marrow and central nervous system relapse. He was commenced on FLAG-I (fludarabine, cytarabine, idarubicin, granulocyte colony-stimulating factor) and weekly intrathecal chemotherapy. He had a further course of chemotherapy and underwent an allogeneic bone marrow transplantation. He engrafted but died <6 months later with extramedullary disease. Leukaemic hypopyon, as seen in this patient, is a rare manifestation of acute myeloid leukaemia.

Myeloid Sarcoma of the Urinary Bladder and Epididymis as a Primary Manifestation of Acute Myeloid Leukemia With inv(16)

Myeloid sarcoma (MS) of the lower urinary tract is rare. We describe a 47-year-old man with hematuria, who was subsequently found to have MS involving bladder and epididymis. The neoplasm was composed predominantly of blasts that expressed CD68, CD117, myeloperoxidase, and lysozyme, with occasional immature eosinophils. Although blood and bone marrow examinations showed no morphologic evidence of leukemia, conventional cytogenetic studies of marrow demonstrated inv(16)(p13q22) in 4 of 20 metaphases; fluorescence in situ hybridization of the bladder neoplasm also showed inv(16). Following chemotherapy, the patient has been in complete remission for 32 months. In our literature review, we identified 7 cases of MS involving bladder, only 3 without evidence of an associated myeloid neoplasm in marrow, none with cytogenetic data. A high index of suspicion is required to establish the diagnosis of MS involving bladder. Cytogenetic analysis is useful for both demonstrating minimal marrow disease and classifying MS in paraffin-embedded tissue sections.