Diagnosis, Differential ; Humans ; Sarcoma, Myeloid/diagnosis*

Leukemia is a hematological malignant disease with various clinical symptoms. Due to the fatal nature of the disease, early detection is important. Oral manifestations include ulcers and gingival enlargement with bleeding. Moreover, myeloid sarcoma or opportunistic infections may also occur. This report introduces a 31-year-old male presenting with generalized gingival enlargement with bleeding and another 81-year-old female with neoplasm on the left retromolar area. Both were diagnosed as acute monocytic leukemia. These cases implicate that gingival enlargement or mucosal lesion in the oral cavity may represent underlying systemic diseases. Related to this, it has to be reminded that making timely diagnosis and referral according to the clinical findings is crucial.
Adult ; Aged, 80 and over ; Diagnosis ; Female ; Hemorrhage ; Humans ; Leukemia ; Leukemia, Monocytic, Acute ; Male ; Mouth ; Opportunistic Infections ; Oral Manifestations ; Referral and Consultation ; Sarcoma, Myeloid ; Ulcer

BACKGROUND: Isolated myeloid sarcoma (MS) is a rare extramedullary tumor mass composed of malignant myeloid precursor cells without any evidence of leukemia in the peripheral blood and bone marrow. We describe the clinical characteristics and outcomes of patients diagnosed with isolated MS at our institution. METHODS: We retrospectively reviewed 9 of 497 acute myeloid leukemia (AML) patients (1.8%) with isolated MS. Isolated MS patients were divided into 2 groups according to the first-line treatment strategy: systemic treatment only (S) or local treatment with or without systemic treatment (LS). RESULTS: The most common site of MS occurrence was the head and neck area (N=4, 44.4%), followed by the anterior mediastinum (N=2, 22.2%) and the gastrointestinal tract (N=2, 22.2%). The tumors of 4 patients (44.4%) eventually evolved to AML, in a median time of 13.4 months (range, 2.4–20.1 mo). The number of patients achieving complete remission after first-line treatment was higher in the LS group (N=5, 83.3%) than in the S group (N=1, 33.3%) (P =0.226). All patients in the LS group survived, but those in the S group died (P=0.012). CONCLUSION: Accurate and rapid diagnosis using various modalities and the early initiation of intensive combined treatment may be the optimal strategies to reduce the risk of isolated MS subsequently evolving to AML. To fully understand the characteristics of isolated MS, a larger number of patients from a multinational study is necessary.
Bone Marrow* ; Diagnosis ; Gastrointestinal Tract ; Head ; Humans ; Leukemia ; Leukemia, Myeloid, Acute ; Mediastinum ; Neck ; Retrospective Studies ; Sarcoma, Myeloid*

PURPOSE: To identify magnetic resonance imaging (MRI) findings of leukemic infiltration of optic nerve and optic neuritis in leukemic patients with emphasis of clinical findings as reference standard to differentiate them. MATERIALS AND METHODS: MRI and clinical findings of 7 patients diagnosed as leukemic infiltration of optic nerve (n = 5) and optic neuritis (n = 2) in our institution between July 2006 and August 2015were reviewed retrospectively. In particular, MR imaging findings involved perineural enhancement and thickening of optic nerve and its degree, signal intensity, laterality (unilateral/bilateral), intraconal fat infiltration and its degree, and associated central nervous system abnormalities. RESULTS: Of 5 cases of leukemic infiltration of optic nerve, 4 cases showed positive cerebrospinal fluid (CSF) study for leukemia relapse and 1 case was positive on bone marrow (BM) biopsy only. Moreover, of 5 leukemic infiltration of optic nerve, 2 cases showed the most specific MR findings for leukemic central nervous system involvement including 1 prominent leptomeningeal enhancement and 1 chloroma. However, other MR imaging findings of the patients with leukemic infiltration or optic neuritis such as thickening and perineural enhancement of optic nerves are overlapped. CONCLUSION: Enhancement and thickening of optic nerve were overlapped MR findings in leukemic infiltration of optic nerve and optic neuritis. Our findings suggest that enhancing optic nerve thickening with associated central nervous system MR abnormality favors the diagnosis of leukemic infiltration of optic nerve, especially in patients with history of acute lymphoblastic leukemia. However, CSF and BM study were required for differentiation between leukemic infiltration of optic nerve and optic neuritis.
Biopsy ; Bone Marrow ; Central Nervous System ; Cerebrospinal Fluid ; Diagnosis ; Humans ; Leukemia ; Leukemic Infiltration* ; Magnetic Resonance Imaging ; Optic Nerve Diseases ; Optic Nerve* ; Optic Neuritis* ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; Recurrence ; Retrospective Studies ; Sarcoma, Myeloid

Myeloid sarcoma (MS) is an extramedullary involvement of immature myeloid proliferation. An isolated MS is defined as a myeloblastic tumor when it arises without any concomitant circulating disease. A diagnosis of MS is established using pathologic features including infiltration of myeloblasts and strong myeloperoxidase expression with negative cytokeratin immunohistochemical staining. We report a rare case of colonic MS without any peripheral blood abnormality. If the affected patient were left untreated, the MS could evolve into acute myeloid leukemia (AML) within one year. Several studies recommend the same regimens of chemotherapy as used for circulating AML to treat isolated MS. We focused on the diagnosis of MS in this study. The correct diagnosis of MS is important for adequate treatment. In conclusion, MS should be considered in the differential diagnosis of intestinal tumor.
Colon ; Colonic Neoplasms ; Diagnosis ; Diagnosis, Differential ; Drug Therapy ; Granulocyte Precursor Cells ; Humans ; Intestines* ; Keratins ; Leukemia, Myeloid, Acute ; Peroxidase ; Sarcoma, Myeloid*

PURPOSE: To report a case of an 82-year-old male with acute myeloid leukemia presenting with bilateral isolated conjunctival and eyelid masses. CASE SUMMARY: An 82-year-old male presented with a bilateral conjunctival mass and right eyelid mass occurring 10 days prior. He was diagnosed with prostate cancer 8 years ago and complete recovery was achieved using selective mass chemotherapy. He experienced a stroke 4 years ago and was treated using a carotid artery stent insertion and medication. In the initial laboratory test, hemoglobin was 13.7 g/dL and leukocyte count 5,530/mm3(neutrophil 74.4%, lymphocyte 10%, monocyte 11.8%). Light reflex, movement of extraocular muscle and fundus examination were all normal. Biopsy was performed 1 week after the first visit. Seven days after biopsy, he complained of sudden dyspnea and febrile sense and was admitted to the intensive care unit via the emergency room (ER). The laboratory tests performed in the ER showed hemoglobin was 9.6 g/dL and leukocyte count was 78,020/mm3(neutrophil 0%, lymphocyte 7%, monocyte 5%, promyelocyte 1%, metamyelocyte 4%, myelocyte 6%, blast 67%). The biopsy revealed diffuse proliferation of atypical plasmacytoid cells, consistent with leukemic infiltration. Under the diagnosis of acute myeloid leukemia, chemotherapy was administered. However, the patient died due to aggravated pneumonia. CONCLUSIONS: Even if non-specific findings appear on the peripheral blood tests, eyelid and conjunctival masses should be considered as possible tumors in acute myeloid leukemia.
Aged, 80 and over ; Biopsy ; Carotid Arteries ; Conjunctiva* ; Diagnosis ; Drug Therapy ; Dyspnea ; Emergency Service, Hospital ; Eyelids* ; Granulocyte Precursor Cells ; Hematologic Tests ; Humans ; Intensive Care Units ; Leukemia, Myeloid, Acute* ; Leukemic Infiltration ; Leukocyte Count ; Lymphocytes ; Male ; Monocytes ; Pneumonia ; Prostatic Neoplasms ; Reflex ; Sarcoma, Myeloid ; Stents ; Stroke

Chronic myeloid leukemia (CML) is a clonal myeloproliferative disorder of the primitive hematopoietic stem cells. CML is characterized by the overproduction of myeloid cells, which results in marked splenomegaly and leukocytosis. CML presented by multiple chloromas is extremely rare. Multiple chloromas in the skin and brain are quite rare as the initial presentation of CML. These rare manifestation should alert clinicians to include CML in the differential diagnosis of patients presenting with multiple non-pruritic skin nodules or neurologic symptoms. Dasatinib has promising therapeutic potential for managing intracranial leukemic disease. Here, we report the case of a patient who visited the hospital with multiple chloroma which is unusual presentation of CML, and treated with dasatinib successfully.
Brain ; Diagnosis, Differential ; Hematopoietic Stem Cells ; Humans ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive* ; Leukocytosis ; Myeloid Cells ; Myeloproliferative Disorders ; Neurologic Manifestations ; Sarcoma, Myeloid* ; Skin ; Splenomegaly ; Dasatinib

Small round cell tumors (SRCTs) are a heterogeneous group of neoplasms composed of small, primitive, and undifferentiated cells sharing similar histology under light microscopy. SRCTs include Ewing sarcoma/peripheral neuroectodermal tumor family tumors, neuroblastoma, desmoplastic SRCT, rhabdomyosarcoma, poorly differentiated round cell synovial sarcoma, mesenchymal chondrosarcoma, small cell osteosarcoma, small cell malignant peripheral nerve sheath tumor, and small cell schwannoma. Non-Hodgkin\'s malignant lymphoma, myeloid sarcoma, malignant melanoma, and gastrointestinal stromal tumor may also present as SRCT. The current shift towards immunohistochemistry and cytogenetic molecular techniques for SRCT may be inappropriate because of antigenic overlapping or inconclusive molecular results due to the lack of differentiation of primitive cells and unavailable genetic service or limited moleculocytogenetic experience. Although usage has declined, electron microscopy (EM) remains very useful and shows salient features for the diagnosis of SRCTs. Although EM is not always required, it provides reliability and validity in the diagnosis of SRCT. Here, the ultrastructural characteristics of SRCTs are reviewed and we suggest that EM would be utilized as one of the reliable modalities for the diagnosis of undifferentiated and poorly differentiated SRCTs.
Chondrosarcoma, Mesenchymal ; Cytogenetics ; Diagnosis ; Gastrointestinal Stromal Tumors ; Genetic Services ; Humans ; Immunohistochemistry ; Lymphoma ; Melanoma ; Microscopy ; Microscopy, Electron ; Microscopy, Electron, Transmission* ; Neurilemmoma ; Neuroblastoma ; Neuroectodermal Tumors ; Osteosarcoma ; Pathology ; Peripheral Nerves ; Reproducibility of Results ; Rhabdomyosarcoma ; Sarcoma, Myeloid ; Sarcoma, Synovial

Acute myeloid leukemia (AML) is a heterogeneous malignancy that comprises 25-30% of pediatric leukemias in Korea. Several inherited diseases, such as Down syndrome and Fanconi anemia, predispose towards AML leukemogenesis. Subgrouping of AML is a key diagnostic step, previously done with the French-American-British (FAB) classification and recently complemented by that of the World Health Organization (WHO). An important feature of AML is the possibility of chloroma at diagnosis, which, if detected, requires follow-up evaluation to determine treatment response. Numerous genetic abnormalities with prognostic relevance have recently been found, the most important of which include those of the core-binding factor (CBF) leukemias, and FLT3-ITD mutation. These genetic abnormalities, combined with patient response to initial treatment, allow for a scheme of risk stratification, and the current consensus is to treat low risk patients with chemotherapy only, whereas high risk patients may receive allogeneic transplant in first remission, although the benefits of transplant remain inconclusive. Overall, the outcome of children and adolescents with AML has improved significantly so that many clinical trials now report event-free survival of around 60%. However, much of this improvement stems from better supportive care and transplant methods, and the genetics-based diagnostic advances in AML have yet to result in enhanced treatment. New therapeutics, including possibly targeted therapy, are necessary to further improve the outcome of pediatric AML.
Adolescent ; Child ; Classification ; Complement System Proteins ; Consensus ; Core Binding Factors ; Diagnosis ; Disease-Free Survival ; Down Syndrome ; Drug Therapy ; Fanconi Anemia ; Humans ; Korea ; Leukemia ; Leukemia, Myeloid, Acute ; Sarcoma, Myeloid ; World Health Organization

This study was purposed to analyze the clinical feature,diagnosis and treatment efficacy of primary granulocytic sarcoma (PGS). A total of 15 patients with PGS from January 2008 to March 2013 was evaluated retrospectively, among 15 patients 8 patients were treated with chemotherapy (chemotherapy alone,chemotherapy combined with local irradiation,chemotherapy combined with surgical resection or bone marrow transplantation), 7 patients were treated without chemotherapy, but were treated with surgical resection or surgical resection plus local irradiation.The chemotherapy method for PGS patients was similar as treatment of acute myeloid leukemia. The results indicated that the proportion of disease progression into bone marrow abnormality in patients treated with chemotherapy and in patients treated without chemotherapy was 25% and 85.7% respectively, suggesting that the chemotherapy can reduce the incidence of progression into bone marrow abnormality (P < 0.05). The average survival time of PGS patients treated with chemotherapy or without chemotherapy was 26.063 ± 14.97 and 12.214 ± 6.83 months (P < 0.05),suggesting prolonging of survival time of patients treated with chemotherapy, moreover 2 patients who were treated using chemotherapy combined with bone marrow transplantation still alive now,and their living times were 39 months and 45 months respectively. It is concluded that intensive chemotherapy similar as treatment of AML can decrease the probability of disease progressing into bone marrow abnormality, and if chemotherapy combines with bone marrow transplantation, the survival time of PGS patients can be longer. In this aspect, the efficacy of treatment and survival time at home and abroad are similar.
Adolescent ; Adult ; Female ; Humans ; Male ; Middle Aged ; Retrospective Studies ; Sarcoma, Myeloid ; diagnosis ; therapy ; Young Adult