Child ; Humans ; Intracellular Signaling Peptides and Proteins ; Mutation ; Pancytopenia

Anemia, Aplastic ; Bone Marrow Diseases ; Bone Marrow Failure Disorders ; Humans ; Pancytopenia

Metastasis of rhabdomysarcoma to the breast is a very rare manifestation in adult males. Herein, we report a case of metastasis from embryonal rhabdomyosarcoma in the left hypothenar muscle that presented as a breast mass in a 38-year-old man, who four months later expired because of multiple bone metastases related to pancytopenia. We describe the various imaging findings, including mammograms, ultrasonography, computerized tomography (CT), positron emission tomography-computed tomography (PET-CT), and magnetic resonance imaging (MRI) of this rare disease. The various imaging findings of this lesion could be helpful for future diagnosis of male breast lesions.
Adult ; Breast ; Diagnosis ; Electrons ; Humans ; Magnetic Resonance Imaging ; Male ; Neoplasm Metastasis ; Pancytopenia ; Rare Diseases ; Rhabdomyosarcoma ; Rhabdomyosarcoma, Embryonal ; Ultrasonography

PURPOSE: The major side effects of treatment with oxcarbazepine (OXC) are skin rash and hyponatremia. Hematologic side effects are reported rarely. The aim of this study was to investigate the rate and types of the hematologic side effects of OXC. METHODS: The medical records of 184 patients diagnosed with epilepsy or movement disorder and on OXC monotherapy, at the Department of Pediatrics of Inje University Sanggye Paik Hospital from July 2001 to July 2018, were retrospectively reviewed. RESULTS: Of the 184 patients, 10 (5.4%) developed leukopenia in addition to pancytopenia and 2 (1.0%) developed pancytopenia. Leukopenia developed in 11 days to 14 years after OXC administration and was more frequent in males than in females (male vs. female, 9 vs. 1; Fisher exact test, P<0.05). Of the eight patients with leukopenia alone, 7 continued OXC treatment; 6 improved without intervention; 1 was lost to follow-up; and 1 received a reduced OXC dose, who improved after intervention. Pancytopenia developed within 2 months of initiation of OXC treatment. Both patients initially continued OXC. One improved within 1 month and continued treatment with OXC, but the other showed progression of the side effect, leading to the discontinuation of OXC and subsequent improvement within 1 month. There were no significant differences in the ages of the patients, OXC dose, and duration of OXC treatment between patients with and without these side effects of OXC (P >0.05, t-test). CONCLUSION: OXC-induced leukopenia is not rare and may result in pancytopenia. Patients being treated with OXC should be regularly monitored for abnormal complete blood count profiles.
Blood Cell Count ; Epilepsy ; Exanthema ; Female ; Humans ; Hyponatremia ; Leukopenia ; Lost to Follow-Up ; Male ; Medical Records ; Movement Disorders ; Pancytopenia ; Pediatrics ; Retrospective Studies

Bone marrow metastasis of colon cancer is rare. Here, we report a 56-year-old female patient who presented with pancytopenia. She was diagnosed with colon cancer accompanied by lung and axial skeleton metastasis. The bone marrow study showed metastatic carcinoma. Immunohistochemical (IHC) staining with anti-cytokeratin 7 (CK7) and anti-cytokeratin 20 (CK20) antibodies showed that the bone marrow samples were negative for CK7 and positive for CK20, consistent with metastatic colon cancer. To the best of our knowledge, there has been only one other reported case of bone marrow metastasis of colon cancer as the primary diagnosis in an adult patient in Korea. Bone and bone marrow metastases of colon cancer are regarded as uncommon. However, for proper management, bone marrows should be promptly examined in patients with solid tumors when unexplained cytopenia is noted, even if the origin of the tumor is known to be rarely metastatic to bone marrow. In addition, the use of cytokeratin IHC staining is helpful for determining the origin of metastatic carcinoma.
Adult ; Antibodies ; Bone Marrow ; Colon ; Colonic Neoplasms ; Diagnosis ; Female ; Humans ; Immunohistochemistry ; Keratins ; Korea ; Lung ; Middle Aged ; Neoplasm Metastasis ; Pancytopenia ; Skeleton

A 22-year old female patient with systemic lupus erythematosus presenting microangiopathic hemolytic anemia was treated with therapeutic plasma exchange 23 times. The patient's condition and laboratory findings (aspartate aminotransferase, alanine aminotransferase, ferritin, total bilirubin, and lactate dehydrogenase) did not improve despite the initial 18 therapeutic plasma exchange treatments. Thrombotic thrombocytopenic purpura was ruled out due to normal ADAMTS-13 activity test result; hemophagocytic lymphohistiocytosis was diagnosed based on fever, splenomegaly, pancytopenia, hypertriglyceridemia, hyperferritinemia, and hemophagocytosis in bone marrow aspiration. The patient's condition improved rapidly upon treatment with a combination of immunosuppressants and cytotoxic agents, and more therapeutic plasma exchanges were performed five consecutive times with prolonged intervals in between. We observed that therapeutic plasma exchange treatment alone was not effective enough to treat hemophagocytic lymphohistiocytosis, unlike thrombotic thrombocytopenic purpura. Therefore, it is necessary to determine and start drug administration promptly in the treatment of hemophagocytic lymphohistiocytosis with thrombotic microangiopathy.
Alanine Transaminase ; Anemia, Hemolytic ; Bilirubin ; Bone Marrow ; Cytotoxins ; Female ; Ferritins ; Fever ; Humans ; Hypertriglyceridemia ; Immunosuppressive Agents ; Lactic Acid ; Lupus Erythematosus, Systemic ; Lymphohistiocytosis, Hemophagocytic ; Pancytopenia ; Plasma Exchange ; Plasma ; Purpura, Thrombotic Thrombocytopenic ; Splenomegaly ; Thrombotic Microangiopathies

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

BACKGROUND: In Korea, there were repeated radiation exposure accidents among non-destructive testing workers. Most of the cases involved local injury, such as radiation burns or hematopoietic cancer. Herein, we report a case of acute radiation syndrome caused by short periods of high exposure to ionizing radiation. CASE PRESENTATION: In January 2017, Korea Information System on Occupational Exposure (KISOE) found that a 31-year-old man who had worked in a non-destructive testing company had been overexposed to radiation. The patient complained of symptoms of anorexia, general weakness, prostration, and mild dizziness for several days. He was anemic. The venous injection areas had bruises and bleeding tendency. Blood and bone marrow testing showed pancytopenia and the patient was diagnosed with acute radiation syndrome (white blood cells: 1400/cubic mm, hemoglobin: 7.1 g/dL, platelets: 14000/cubic mm). He was immediately prohibited from working and blood transfusion was commenced. The patient’s radiation exposure dose was over 1.4 Gy (95% confidence limits: 1.1–1.6) in lymphocyte depletion kinetics. It was revealed that the patient had been performing non-destructive tests without radiation shielding when working in high places of the large pipe surface. CONCLUSIONS: Exposure prevention is clearly possible in radiation-exposed workers. Strict legal amendments to safety procedures are essential to prevent repeated radiation exposure accidents.
Acute Radiation Syndrome ; Adult ; Anorexia ; Blood Cells ; Blood Transfusion ; Bone Marrow ; Burns ; Contusions ; Dizziness ; Hemorrhage ; Humans ; Information Systems ; Kinetics ; Korea ; Lymphocyte Depletion ; Occupational Exposure ; Pancytopenia ; Radiation Exposure ; Radiation, Ionizing

Osteopetrosis is characterized by impaired osteoclast function and increased bone density. Infantile osteopetrosis is a severe form of the disease and has characteristics such as diffusely sclerotic skeleton, pancytopenia, cranial nerve entrapment, infection susceptibility, and abnormal craniofacial appearance. Patients with infantile osteopetrosis often experience developmental delay, and may have a short life span.A 14-month-old girl with osteopetrosis presented to the department of pediatric dentistry. Incipient caries on deciduous incisors were observed. The patient revisited 4 years of age. Besides medical problems, oral complications such as growth retardation, narrow upper arch, crowding, dental caries, and abnormal tooth development were observed. After consultation with her pediatrician, dental treatments were performed on the deciduous molars under sedation after a prophylactic antibiotic injection. At a periodic follow-up, multiple deciduous teeth were treated and extracted, and oral-rehabilitation with a removable partial denture was initiated.Patient with osteopetrosis are highly susceptible to infection because of their compromised immune system and problems associated with wound healing that lead to osteomyelitis or sepsis development.Active participation in dental care for sugar intake management and proper oral hygiene are obligatory.
Bone Density ; Cranial Nerves ; Crowding ; Dental Care ; Dental Caries ; Denture, Partial, Removable ; Female ; Follow-Up Studies ; Humans ; Immune System ; Incisor ; Infant ; Molar ; Oral Hygiene ; Osteoclasts ; Osteomyelitis ; Osteopetrosis ; Pancytopenia ; Pediatric Dentistry ; Sepsis ; Skeleton ; Tooth ; Tooth, Deciduous ; Wound Healing

OBJECTIVETo investigate the potential efficacy of panaxadiol saponins component (PDS-C), a biologically active fraction isolated from total ginsenosides, to reverse chemotherapy-induced myelosuppression and pancytopenia caused by cyclophamide (CTX).

METHODSMice with myelosuppression induced by CTX were treated with PDS-C at a low- (20 mg/kg), moderate- (40 mg/kg), or high-dose (80 mg/kg) for 7 consecutive days. The level of peripheral white blood cell (WBC), neutrophil (NEU) and platelet (PLT) were measured, the histopathology and colony formation were observed, the protein kinase and transcription factors in hematopoietic cells were determined by immunohistochemical staining and Western blot.

RESULTSIn response to PDS-C therapy, the peripheral WBC, NEU and PLT counts of CTX-induced myelosuppressed mice were significantly increased in a dose-dependent manner. Similarly, bone marrow histopathology examination showed reversal of CTX-induced myelosuppression with increase in overall bone marrow cellularity and the number of hematopoietic cells (P<0.01). PDS-C also promoted proliferation of granulocytic and megakaryocyte progenitor cells in CTX-treated mice, as evidenced by significantly increase in colony formation units-granulocytes/monocytes and -megakaryocytes (P<0.01). The enhancement of hematopoiesis by PDS-C appears to be mediated by an intracellular signaling pathway, this was evidenced by the up-regulation of phosphorylated mitogen-activated protein kinase (p-MEK) and extracellular signal-regulated kinases (p-ERK), and receptor tyrosine kinase (C-kit) and globin transcription factor 1 (GATA-1) in hematopoietic cells of CTX-treated mice (P<0.05).

CONCLUSIONSPDS-C possesses hematopoietic growth factor-like activities that promote proliferation and also possibly differentiation of hematopoietic progenitor cells in myelosuppressed mice, probably mediated by a mechanism involving MEK and ERK protein kinases, and C-kit and GATA-1 transcription factors. PDS-C may potentially be a novel treatment of myelosuppression and pancytopenia caused by chemotherapy.

Animals ; Antineoplastic Agents ; adverse effects ; Cell Proliferation ; drug effects ; Cyclophosphamide ; adverse effects ; Extracellular Signal-Regulated MAP Kinases ; metabolism ; GATA1 Transcription Factor ; metabolism ; Ginsenosides ; pharmacology ; therapeutic use ; Hematopoiesis ; drug effects ; Mice ; Mitogen-Activated Protein Kinase Kinases ; metabolism ; Myeloid Cells ; drug effects ; pathology ; Panax ; chemistry ; Pancytopenia ; chemically induced ; drug therapy ; pathology ; Phosphorylation ; drug effects ; Proto-Oncogene Proteins c-kit ; metabolism ; Saponins ; pharmacology ; Up-Regulation ; drug effects