In patients with acute myeloid leukemia (AML), pleural effusion may be attributed to various factors, including infection, hypoalbuminemia, and renal failure. However, leukemic infiltration of the pleural fluid is rarely reported and poorly understood. Extramedullary diseases have been reported with increasing frequency as the survival rates of patients with AML have increased. However, the reported prognostic effects of leukemic pleural effusion in patients with AML range from none to a worse prognosis. Here, we report a case of acute promyelocytic leukemia (APL) in a patient exhibiting leukemic pleural effusion with fluorescence in situ hybridization (FISH) results indicating the presence of the PML-RARA fusion gene. A 52-year-old man presented with pancytopenia, dyspnea, and fever. He had a medical history of hypertension, end-stage renal disease, and hepatitis B virus-related liver cirrhosis. A peripheral blood smear revealed the presence of multiple abnormally hypergranular promyelocytes. White blood cell differential counts were not performed due to severe pancytopenia. A bone marrow examination, immunophenotyping analysis, and cytogenetic and molecular studies revealed APL. The patient was treated with all-trans retinoic acid immediately after abnormal promyelocytes were observed in the peripheral blood smear, but induction chemotherapy was delayed because of his poor condition. His persistent dyspnea and abdominal discomfort led to a thoracentesis and the observation of abnormal promyelocytes that were positive for PML-RARA fusion gene by FISH. To our knowledge, this is the first report of leukemic pleural infiltration with PML-RARA fusion gene-positivity via FISH.
Bone Marrow Examination ; Cytogenetics ; Dyspnea ; Fever ; Fluorescence ; Granulocyte Precursor Cells ; Hepatitis B ; Humans ; Hypertension ; Hypoalbuminemia ; Immunophenotyping ; In Situ Hybridization ; Induction Chemotherapy ; Kidney Failure, Chronic ; Leukemia, Myeloid, Acute ; Leukemia, Promyelocytic, Acute ; Leukemic Infiltration ; Leukocytes ; Liver Cirrhosis ; Middle Aged ; Pancytopenia ; Pleural Effusion ; Prognosis ; Renal Insufficiency ; Survival Rate ; Thoracentesis ; Tretinoin

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

In acute leukemia, leukemic infiltration of the breast is extremely rare. We report a case of biphenotypic acute leukemia (BAL) that presented as a breast mass. A 30-year-old woman presented with a 4-month history of a right breast mass with nipple discharge and easy fatigue. She had received chemotherapy and peripheral blood stem cell transplantation for BAL and had been in complete remission for the last 2 years. Core needle biopsy of the breast mass revealed monomorphous infiltrates of blast cells with round nuclei and fine chromatin, consistent with leukemic infiltration. Subsequent bone marrow biopsy showed diffuse infiltration of immature cells. However, bone marrow karyotyping showed 46, XY, suggesting complete engraftment of transplanted donor cells. This is the report of BAL recurring as a breast mass. In the differential diagnosis of a breast mass, extramedullary relapse should be considered when the patient has a history of leukemia.
Adult ; Biopsy ; Biopsy, Large-Core Needle ; Bone Marrow ; Breast* ; Chromatin ; Diagnosis, Differential ; Drug Therapy ; Fatigue ; Female ; Humans ; Karyotyping ; Leukemia ; Leukemia, Biphenotypic, Acute* ; Leukemic Infiltration ; Nipples ; Peripheral Blood Stem Cell Transplantation ; Recurrence* ; Tissue Donors

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

OBJECTIVETo investigate clinical features, diagnosis, therapy, and prognosis in a case of chronic lymphocytic leukemia (CLL) with central nervous system (CNS) invasion.

METHODSThe cellular morphology of bone marrow, cytology and flow cytometry of cells in CSF, and radiographic manifestations were detected in a patient diagnosed as CLL with CNS invasion. The clinical features, pathogenesis, diagnosis,therapy, and prognosis of CLL with CNS invasion were reviewed by literatures.

RESULTSA clonal population of B lymphocytes with typical characteristics of immunophenotype was identified in the patient. After treated with intrathecal chemotherapy, the patient returned to normal cells count of cerebrospinal fluid and normal neurologic status. Previous studies also have demonstrated the efficacy of intrathecal chemotherapy.

CONCLUSIONCNS invasion is a rare complication of CLL. Early detection and treatment may result in better outcomes.

Aged ; Central Nervous System ; pathology ; Humans ; Leukemia, Lymphocytic, Chronic, B-Cell ; pathology ; Leukemic Infiltration ; Male ; Prognosis

BACKGROUNDMMPs and TIMPs play important roles in tumor angiogenesis and invasion. Studies have shown that TIMP-2 has two roles in tumor invasion. However, its role in leukemic infiltration has not been well investigated. This study explored the roles of TIMP-2 in extramedullary infiltration of acute monocytic leukemic SHI-1 cells both in vitro and in vitro.

METHODSA retroviral vector carrying the human TIMP-2 cDNA was constructed and transfected into the monocytic leukemic cell line SHI-1. The expression of TIMP-2 in the positive clones was determined. The proliferation of SHI-1 cells was examined by MTT assay. Trans-Matrigel invasion assays were used to investigate the infiltration ability in vitro. SHI-1 cells were intravenously injected into pre-treated nu/nu mice to investigate the infiltration ability feature in vitro.

RESULTSThe expression of TIMP-2 on the cell membrane was significantly elevated in SHI-1/TIMP-2 cells. Over-expression of TIMP-2 promoted the cells proliferation and the invasions in vitro. The SHI-1/TIMP-2 cells demonstrated higher infiltration ability when intravenously injected into nu/nu mice.

CONCLUSIONOver-expression of TIMP-2, especially on the cell membrane, may play important roles in promoting the proliferation and infiltration of SHI-1 leukemic cells.

Adult ; Animals ; Cell Line ; Cell Proliferation ; physiology ; Humans ; Leukemic Infiltration ; physiopathology ; Male ; Mesenchymal Stromal Cells ; metabolism ; physiology ; Mice ; Mice, Inbred BALB C ; Tissue Inhibitor of Metalloproteinase-2 ; genetics ; metabolism

Aged, 80 and over ; Exanthema ; etiology ; Female ; Humans ; Leukemia, Monocytic, Acute ; pathology ; Leukemic Infiltration ; complications ; diagnosis ; Skin ; pathology

Leukemia cutis (LC) is defined as a neoplastic leukocytic infiltration of the skin. Few clinical studies are available on recent trends of LC in Korea. The purpose of this study was to analyze the clinical features and prognosis of LC in Korea and to compare findings with previous studies. We performed a retrospective study of 75 patients with LC and evaluated the patients' age and sex, clinical features and skin lesion distribution according to the type of leukemia, interval between the diagnosis of leukemia and the development of LC, and prognosis. The male to female ratio was 2:1, and the mean age at diagnosis was 37.6 yr. The most common cutaneous lesions were nodules. The most commonly affected site was the extremities in acute myelocytic leukemia and chronic myelocytic leukemia except for acute lymphocytic leukemia. Compared with previous studies, there was an increasing tendency in the proportion of males and nodular lesions, and LC most often occurred in the extremities. The prognosis of LC was still poor within 1 yr, which was similar to the results of previous studies. These results suggest that there is a difference in the clinical characteristics and predilection sites according to type of leukemia.
Adult ; Extremities/pathology ; Female ; Humans ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive/*diagnosis/mortality/pathology ; Leukemia, Myeloid, Acute/*diagnosis/mortality/pathology ; *Leukemic Infiltration ; Male ; Neoplasm Staging ; Retrospective Studies ; Skin/*pathology

Renal infiltration is common in chronic lymphocytic leukemia (CLL), but renal impairment caused by leukemic infiltration is rare. This report describes the case of a 38-year-old man with CLL who required no medical treatment for 1 year and was admitted with nonoliguric renal insufficiency (proteinuria > 2,000 mg/day). A renal biopsy subsequently revealed leukemic infiltration by CLL. Treatment with fludarabine plus cyclophosphamide resulted in the improvement of renal function. Leukemic infiltration should be considered in the differential diagnosis of a patient with CLL and impaired renal function because renal impairment often responds well to chemotherapy.
Adult ; Biopsy ; Cyclophosphamide ; Diagnosis, Differential ; Humans ; Leukemia, Lymphocytic, Chronic, B-Cell ; Leukemic Infiltration ; Proteinuria ; Renal Insufficiency ; Vidarabine

PURPOSE: To present a case of leukemic infiltration of the optic nerve head as the initial manifestation of leukemic relapse. CASE SUMMARY: A 65-year-old woman was diagnosed with acute myeloid leukemia. Complete remission was achieved after 4 complete courses of chemotherapy. She complained of a sudden decrease in visual acuity in her left eye. Fundus examination showed severe optic disc edema with peripapillary hemorrhage and serous retinal detachment. Visual acuity and fundus continued to aggravate and high-dose intravenous steroid therapy was instituted. Visual acuity and fundus deteriorated more after treatment. Brain magnetic resonance imaging and CSF study were normal but intrathecal chemotherapy and focal irradiation were performed on account of the suspected CNS involvement of leukemia. Morphologic improvement in the retinal structure was achieved, however, optic atrophy remained and her vision did not recover. CONCLUSIONS: The present case shows the involvement of the optic nerve head as the initial isolated manifestation for the relapse in a patient with complete remission. CNS involvement is rare in acute myeloid leukemia and in particular, the optic nerve is rarely reported as the initial isolated presentation for the relapse. Moreover, the disease progression relatively aggravated after treatment. In the atypical aspects of leukemic relapse, the present case was noticeable.
Aged ; Brain ; Disease Progression ; Edema ; Eye ; Female ; Hemorrhage ; Humans ; Leukemia ; Leukemia, Myeloid, Acute ; Leukemic Infiltration ; Magnetic Resonance Imaging ; Optic Atrophy ; Optic Disk ; Optic Nerve ; Recurrence ; Retinal Detachment ; Retinaldehyde ; Vision, Ocular ; Visual Acuity