RESUMEN
An ABO-incompatible transfusion is a very rare event but it can cause severe adverse effects, including death. The prognosis is affected by various factors, such as the volume of infusion, underlying diseases, and immunologic state. Until now, however, there has been no consensus regarding the treatment of an ABO-incompatible transfusion except for conservative treatment. A 57 year-old male patient visited the authors' emergency unit with multiple trauma due to a car accident. He had a deep laceration on his left neck accompanied by severe bleeding. Because of his low blood pressure and low hemoglobin level due to bleeding, an emergency transfusion was attempted. Unfortunately, one unit of RBC was transfused incorrectly into the patient due to a clerical error during the identification of the patient. The patient was typed as O, RhD positive; the RBC administered was A, RhD positive. After the transfusion, the patient showed an acute hemolytic transfusion reaction due to gross hematuria. Plasma exchange was attempted and medical treatment with high dose steroid with diuretics was done simultaneously. Two cycles of plasma exchange were done and the patient appeared to recover from the acute adverse effects of the transfusion. The plasma exchange was stopped and medical treatments for the transfusion reactions were maintained for ten days. The patient recovered fully and was discharged after one month. Based on this case, although more studies are necessary for approval as a standard therapy, this case suggests that immediate plasma exchange with medical treatment can be very helpful for eliminating the isoagglutinins in ABO-incompatible transfusions.
Asunto(s)
Humanos , Masculino , Clero , Consenso , Diuréticos , Urgencias Médicas , Servicio de Urgencia en Hospital , Hematuria , Hemorragia , Hipotensión , Laceraciones , Traumatismo Múltiple , Cuello , Intercambio Plasmático , Plasma , Pronóstico , Reacción a la TransfusiónRESUMEN
No abstract available.
Asunto(s)
Anciano de 80 o más Años , Femenino , Humanos , Secuencia de Bases , Médula Ósea/patología , ADN/química , Proteínas de Fusión bcr-abl/genética , Leucemia Mielógena Crónica BCR-ABL Positiva/diagnóstico , Reacción en Cadena de la Polimerasa Multiplex , Isoformas de Proteínas/genética , Análisis de Secuencia de ADNRESUMEN
Prompt malaria diagnosis is crucial so antimalarial drugs and supportive care can then be rapidly initiated. A 15-year-old boy who had traveled to Africa (South Africa, Kenya, and Nigeria between January 3 and 25, 2011) presented with fever persisting over 5 days, headache, diarrhea, and dysuria, approximately 17 days after his return from the journey. Urinalysis showed pyuria and hematuria. Blood examination showed hemolytic anemia, thrombocytopenia, disseminated intravascular coagulation, and hyperbilirubinemia. Plasmapheresis and hemodialysis were performed for 19 hospital days. Falciparum malaria was then confirmed by peripheral blood smear, and antimalarial medications were initiated. The patient's condition and laboratory results were quickly normalized. We report a case of severe acute renal failure associated with delayed diagnosis of falciparum malaria, and primary use of supportive treatment rather than antimalarial medicine. The present case suggests that early diagnosis and treatment is important because untreated tropical malaria can be associated with severe acute renal failure and fatality. Physicians must be alert for correct diagnosis and proper management of imported tropical malaria when patients have travel history of endemic areas.
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Adolescente , Humanos , Masculino , Lesión Renal Aguda , África , Anemia Hemolítica , Antimaláricos , Diagnóstico Tardío , Diagnóstico , Diarrea , Coagulación Intravascular Diseminada , Disuria , Diagnóstico Precoz , Fiebre , Cefalea , Hematuria , Hiperbilirrubinemia , Kenia , Malaria , Nigeria , Plasmaféresis , Plasmodium falciparum , Piuria , Diálisis Renal , Insuficiencia Renal , Trombocitopenia , UrinálisisRESUMEN
Rhodotorula species are round to oval-shaped, multilateral budding, encapsulated yeasts that produce urease and do not ferment carbohydrates. Rhodotorula species form characteristic salmon-pink colored colonies owing to carotenoid pigment production. These yeasts form a part of the normal flora of moist skin and are found in the environment. Rhodotorula was traditionally considered a contaminant but is now progressively recognized as a human pathogen, especially in immunocompromised patients with central venous catheters. However, isolation of Rhodotorula species from blood has been very rarely reported in Korea. We report a case of sepsis due to Rhodotorula mucilaginosa infection in a patient who had received chemotherapy and supportive care for non-small cell lung cancer.
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Humanos , Carbohidratos , Carcinoma de Pulmón de Células no Pequeñas , Catéteres Venosos Centrales , Quimioterapia , Fungemia , Huésped Inmunocomprometido , Corea (Geográfico) , Rhodotorula , Sepsis , Piel , Ureasa , LevadurasRESUMEN
BACKGROUND: This study was conducted to establish reference intervals (RIs) for serum gamma-glutamyltransferase (GGT), and to evaluate the association between serum GGT levels within RIs and the prevalence of metabolic syndrome (MetS) and type 2 diabetes mellitus (DM) in men and women. METHODS: A total of 363 healthy adults (137 men and 226 women) were enrolled for establishing the RIs of serum GGT. A cross-sectional study was conducted with 919 individuals (519 men and 400 women) to evaluate the associations between gender-specific serum GGT RI quartiles and prevalence of MetS and DM. RESULTS: The RIs for serum GGT levels (central 95th percentile ranges) were 9.0-70.6 IU/L and 4.0-31.3 IU/L in men and women, respectively. In men, the odds ratios (ORs) and 95% confidence intervals (CIs) for the prevalence of MetS in 4 serum GGT quartiles (lowest to highest) were 1.0 (reference), 3.6 (0.7-18.0), 8.8 (2.0-39.1), and 17.4 (4.0-75.3), respectively, while the ORs (95% CIs) for the prevalence of DM were 1.0 (reference), 1.0 (0.3-3.0), 1.7 (0.6-4.6), and 2.6 (1.0-6.6), respectively. In women, the corresponding ORs (95% CIs) were 1.0 (reference), 3.3 (0.6-16.6), 5.8 (1.2-27.3), and 18.8 (4.3-82.2) for MetS, respectively, and 1.0 (reference), 1.6 (0.3-9.7), 1.6 (0.3-9.9), and 8.0 (1.7-36.7) for DM, respectively. These significant relationships persisted after adjusting for age, alcohol intake, body mass index, and smoking. CONCLUSIONS: Serum GGT levels, even within RIs, were proportionally associated with prevalence of metabolic syndrome and DM in both men and women. Serum GGT level may be an independent predictor for chronic degenerative diseases.
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Adulto , Femenino , Humanos , Masculino , Índice de Masa Corporal , Estudios Transversales , Diabetes Mellitus , Diabetes Mellitus Tipo 2 , Electrólitos , gamma-Glutamiltransferasa , Oportunidad Relativa , PrevalenciaRESUMEN
We report on two cases of anti-Jka, whose reactivity disappeared on an antibody identification test using enzyme-treated red cells. One of two patients was a 72-year-old female with cirrhosis of the liver and colon cancer, and the other was a 55-year-old female with known MDS and incomplete Behcet's disease. Results of an antibody identification test using a LISS/Coombs gel card (DiaMed AG) showed negative to one positive with red cells having the Jka antigen; however, all reactions using the enzyme-treated cells showed negative results, which was unexpected. The patients' RBC phenotype was Jk(a-b+). We obtained positive results in reactions of enzyme-treated Jka+ cells and EDTA using a patient's serum and proved that the cause of the negative reaction might be complement-related.
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Anciano , Femenino , Humanos , Persona de Mediana Edad , Neoplasias del Colon , Ácido Edético , Fibrosis , Hígado , FenotipoRESUMEN
MYC rearrangement, a characteristic cytogenetic abnormality of Burkitt lymphoma and several subsets of other mature B-cell neoplasms, typically involves an immunoglobulin gene partner. Herein, we describe a case of precursor B-cell lymphoblastic leukemia harboring a MYC rearrangement with a novel non-immunoglobulin partner locus. The patient was a 4-yr-old Korean boy with ALL of the precursor B-cell immunophenotype. At the time of the second relapse, cytogenetic analyses revealed t(4;8)(q31.1;q24.1) as a clonal evolution. The MYC rearrangement was confirmed by FISH analysis. He died 3 months after the second relapse without achieving complete remission. To our knowledge, this is the first report of a case of MYC rearrangement with a non-immunoglobulin partner in precursor B-cell lymphoblastic leukemia.
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Preescolar , Humanos , Masculino , Células de la Médula Ósea/patología , Cromosomas Humanos Par 4 , Cromosomas Humanos Par 8 , Sitios Genéticos , Inmunoglobulinas/genética , Cariotipificación , Leucemia-Linfoma Linfoblástico de Células Precursoras B/genética , Proteínas Proto-Oncogénicas c-myc/genética , Recurrencia , Translocación GenéticaRESUMEN
Arcanobacterium haemolyticum, a aerobic Gram-positive rod, has been described as an unusual pathogen causing soft tissue infections such as pharyngotonsillitis, chronic ulcer and cellulitis. In addition, the microorganism causes deep-seated infection and systemic disease including endocarditis, vertebral osteomyelitis and sepsis in patients with predisposing conditions such as diabetes mellitus. Since colonies and microscopic findings of A. haemolyticum might be confused with those of streptococci and coryneform bacteria, and it is usually isolated with other microorganisms, it is often considered to be normal flora or a contaminant in wound infections, resulting in missed or delayed diagnosis. Streptococcus agalactiae infections in neonates and pregnant women have been well recognized. However, invasive S. agalactiae infections in non-pregnant older adults with chronic medical conditions, particularly diabetes mellitus, are increasing. We report a case of diabetic foot ulcer due to A. haemolyticum and S. agalactiae in an uncontrolled diabetes mellitus patient.
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Adulto , Femenino , Humanos , Recién Nacido , Arcanobacterium , Bacterias , Celulitis (Flemón) , Diagnóstico Tardío , Diabetes Mellitus , Pie Diabético , Endocarditis , Osteomielitis , Mujeres Embarazadas , Sepsis , Infecciones de los Tejidos Blandos , Streptococcus , Streptococcus agalactiae , Úlcera , Infección de HeridasRESUMEN
BACKGROUND: JAK2 genetic variations have been described in a high proportion of patients with BCR/ABL1-negative myeloproliferative neoplasms (MPN). This study was designed to analyze the frequencies of JAK2 V617F and exon 12 variations, and their correlations with clinical characteristics of Korean patients with BCR/ABL1-negative MPN. METHODS: We examined a total of 154 patients with BCR/ABL1-negative MPN that included 24, 26, 89, and 15 patients with polycythemia vera (PV), primary myelofibrosis (PMF), essential thrombocythemia (ET), and unclassified myeloproliferative neoplasms (MPNU), respectively. We performed allele-specific PCR to detect V617F in all BCR/ABL1-negative patients, and performed direct sequencing to detect exon 12 variations in 47 V617F-negative MPN patients. JAK2 c.1641+179_183del5 variation was detected by restriction fragment length polymorphism assay in 176 healthy subjects. RESULTS: JAK2 V617F was detected in 91 patients (59.1%): PV (91.6%), PMF (46.2%), ET (52.8%), and MPNU (66.7%). In V617F-negative MPN patients, no mutations were found in exon 12. The c.1641+179_183del5 was detected in 68.1% of V617F-negative MPN patients and 45.4% of healthy subjects (P=0.008). JAK2 V617F was closely correlated with age and leukocytosis in BCR/ABL1-negative MPN patients (P<0.05). However, c.1641+179_183del5 was not related to age, sex, or complete blood cell count parameters in V617F-negative MPN patients and healthy subjects. The c.1641+179_183del5 was associated with an increased odds ratio for MPN (odds ratio, 2.6; 95% confidences interval, 1.3-5.1; P=0.007). CONCLUSIONS: Frequencies of V617F are similar to reported results. JAK2 exon 12 mutations may be rare and c.1641+179_183del5 may influence the occurrence of MPN in Korean patients with V6 17F-negative MPN.
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Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Femenino , Humanos , Masculino , Persona de Mediana Edad , Factores de Edad , Alelos , Sustitución de Aminoácidos , Pueblo Asiatico/genética , Exones , Proteínas de Fusión bcr-abl/metabolismo , Variación Genética , Janus Quinasa 2/genética , Trastornos Mieloproliferativos/diagnóstico , Oportunidad Relativa , Polimorfismo de Longitud del Fragmento de Restricción , República de Corea , Análisis de Secuencia de ADNRESUMEN
Microscopic examination of peripheral blood smear (PBS) for detection of microorganisms is simple method that can be used for doctors to confirm the septicemia more swiftly and to select more specific therapy. But it is unusual to find microorganisms in PBS. We report a case of gram negative bacteremia diagnosed by PBS in a severe thrombocytopenic pediatric surgical patient. A 6-month and 2 week old baby with cyanosis was diagnosed congenital heart diseases such as transposition of great arteries, atrial septal defect, and patent ductus arteriosus. The infant underwent surgical operations and the postoperative platelet count progressively decreased in spite of transfusion of multiple platelet concentrates. We performed routine examination of a PBS for evaluation of severe thrombocytopenia. The PBS revealed severe thrombocytopenia, leukopenia with left shifted and some extracellular bacilli. Toxic granulations, toxic vacuoles and some bacilli were observed in the neutrophils. The bacilli were identified as Pseudomonas aeruginosa and Serratia marcescens in blood culture. To our knowledge, this is the second case of bacteremia diagnosed by PBS before the positive blood culture in Korea. We suggest that a PBS is useful for the rapid detection of organisms in cases of septicemia with severe thrombocytopenic pediatric surgical patient.
Asunto(s)
Humanos , Lactante , Bacteriemia , Plaquetas , Cianosis , Conducto Arterioso Permeable , Cardiopatías , Defectos del Tabique Interatrial , Corea (Geográfico) , Leucopenia , Neutrófilos , Recuento de Plaquetas , Pseudomonas aeruginosa , Sepsis , Serratia marcescens , Trombocitopenia , Transposición de los Grandes Vasos , VacuolasRESUMEN
BACKGROUND: Malignant hyperthermia (MH) is genetically heterogeneous, with mutations in the gene encoding the skeletal muscle ryanodine receptor (RYR1) at 19q13.1 accounting for up to 80% of the cases. However, the search for known and novel mutations in the RYR1 gene is hampered by the fact that the gene contains 106 exons. We aimed to analyze mutations from the entire RYR1 coding region in Korean MH families. METHODS: We investigated seven affected MH individuals and their family members. The entire RYR1 coding region from the genomic DNA was sequenced, and RYR1 haplotyping and mutational analysis were carried out. RESULTS: We identified nine different RYR1 mutations or variations from seven Korean MH families. Among these, five previously reported mutations (p.Gly248Arg, p.Arg2435His, p.Arg2458His, p.Arg2676Trp, and p.Leu4838Val) and four novel variations of unknown significance (p.Arg2508Cys, p.Met4022Val, p.Glu2669Lys, and p.Ala4295Val) were identified. In two families, two variations (R2676W & M4022V, R2435H & A4295V, respectively) were identified simultaneously. Four of the observed nine mutations or variations were located outside the hotspot region of RYR1 mutations. CONCLUSIONS: These data indicate that RYR1 is a main candidate gene in Korean MH families, and that comprehensive screening of the entire coding sequence of the RYR1 gene is necessary for molecular genetic investigations in MH-susceptible individuals, owing to the presence of RYR1 mutations or variations outside of the hotspot region.
Asunto(s)
Adulto , Niño , Femenino , Humanos , Masculino , Persona de Mediana Edad , Pueblo Asiatico/genética , Análisis Mutacional de ADN , Exones , Predisposición Genética a la Enfermedad , Haplotipos , Hipertermia Maligna/genética , Mutación Missense , Linaje , República de Corea , Canal Liberador de Calcio Receptor de Rianodina/genética , Análisis de Secuencia de ADNRESUMEN
Myelofibrosis is a myeloproliferative neoplasm characterized by abnormal bone marrow megakaryocyte proliferation with reticulin and collagen fibrosis, leukoerythroblastosis, anemia, increased level of serum lactate dehydrogenase and splenomegaly. Myelofibrosis associated with malignant lymphoma is rare and survival rates appear to have been poor. Herein, we describe our experience in a patient who remained in complete remission with high-dose therapy (HDT) with autologous peripheral blood stem cell transplantation (PBSCT) for ALK-negative ALCL presenting with rapidly progressing myelofibrosis.
Asunto(s)
Humanos , Anemia , Médula Ósea , Colágeno , Fibrosis , L-Lactato Deshidrogenasa , Linfoma , Linfoma Anaplásico de Células Grandes , Megacariocitos , Trasplante de Células Madre de Sangre Periférica , Mielofibrosis Primaria , Reticulina , Esplenomegalia , Trasplante de Células Madre , Tasa de SupervivenciaRESUMEN
BACKGROUND: In smokers, smoking causes many disease entities including cancers, chronic pulmonary diseases and cardiovascular diseases. Passive smoking is also accepted as a carcinogen and its adverse health effects are emphasized. We measured blood vitamin A, C, E (alpha-, beta- and gamma-tocopherol), coenzyme Q10 and urine cotinine concentrations in nonsmokers and smokers. METHODS: Twenty-one healthy nonsmokers and 24 healthy smokers were included in this study. Smoking status was assessed with a self-reported questionnaire. Plasma was analyzed for coenzyme Q10 and serum for vitamin A, C, E using HPLC (Agilent Technologies Inc., USA) and random urine for cotinine using LC/tandem mass spectrometry (Applied Biosystems Inc., Canada). RESULTS: Smokers had significantly lower serum concentrations of vitamin C than nonsmokers (P=0.0005). No significant differences in concentrations of serum vitamin A, E, and plasma coenzyme Q10 were observed. Smokers had highly elevated urine cotinine levels (1,454+/-903 ng/mL). In 16 (76.2%) of 21 nonsmokers, urine cotinine was detected (3.25+/-4.08 ng/mL). The correlations between urine cotinine and blood antioxidants levels were not found. Neither, the correlation between smoking status and blood antioxidants & urine cotinine was found. CONCLUSIONS: This study shows that smokers had significantly lower vitamin C levels among nonenzymatic antioxidants, namely, vitamin A, C, E and coenzyme Q10. High detection rate of urine cotinine in nonsmokers show the seriousness of passive smoking exposure, therefore more social efforts should be directed to reduce passive smoking exposure.
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Adulto , Femenino , Humanos , Masculino , Ácido Ascórbico/sangre , Cromatografía Líquida de Alta Presión , Cotinina/orina , Fumar , Espectrometría de Masas en Tándem , Contaminación por Humo de Tabaco , Tocoferoles/sangre , Ubiquinona/sangre , Vitamina A/sangreRESUMEN
Immune thrombocytopenia is a rare complication associated with vancomycin. A 76-year-old male patient who was treated with vancomycin experienced severe thrombocytopenia and refractoriness as a result of platelet transfusion. Vancomycin-dependent antibodies in his thrombocytopenic serum were detected by flow cytometric analysis. The mechanism of thrombocytopenia is probably related to immunological destruction, as strongly suggested by its association with a specific drug-dependent anti-platelet antibody.
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Anciano , Humanos , Masculino , Anticuerpos , Transfusión de Plaquetas , Trombocitopenia , VancomicinaRESUMEN
BACKGROUND: It is known that magnesium can inhibit platelet function in vitro and ADP-induced platelet activation. We wished to demonstrate if magnesium could inhibit activation of platelets preserved at cold temperature. METHODS: We incubated each mixture of platelets and various concentrations of magnesium sulfate (0~10 mM) at room temperature and at a cold temperature (4oC). On days 1, 3, 5, 7 and 9, we measured the platelet count, pH, LD level, glucose level, HCO3?? level, lactate level, expression of CD62P, expression of annexin V, and ADP-induced aggregation of platelets. RESULTS: The platelets stored at 4oC showed a similar LD level but a lower platelet count, lactate level, and expression of CD62P and annexin V, and a higher pH and glucose level than platelets stored at room temperature. With an increasing magnesium concentration, expression of CD62P in the platelets stored at 4oC was slightly decreased, but expression of annexin V was increased. ADP-induced aggregation of the platelets stored at 4oC was not affected by magnesium. CONCLUSION: Magnesium did not effectively inhibit activation of platelets during preservation at cold temperature (4oC).
Asunto(s)
Anexina A5 , Plaquetas , Frío , Glucosa , Concentración de Iones de Hidrógeno , Ácido Láctico , Sulfato de Magnesio , Magnesio , Activación Plaquetaria , Recuento de PlaquetasRESUMEN
BACKGROUND: Immature platelet fraction (IPF) is the percentage of reticulated platelet (RP) of total platelet count. We measured an IPF reference range using XE-2100 blood cell counter with upgraded software (Sysmex, Japan) and evaluated the clinical utility of this parameter for the laboratory diagnosis of thrombocytopenia due to an increase in peripheral platelet destruction. METHODS: Peripheral blood samples collected into K2 EDTA (Beckton Dickinson, USA) were analyzed at Chonbuk National University Hospital. One hundred forty-two samples from apparently healthy adults (all routine full blood count parameters including platelets within the healthy reference range) were used to establish a normal reference range for IPF. The patients were classified into 3 groups including hypoplastic (consisted of 22 patients undergoing chemotherapy with falling platelet counts and 14 with aplastic anemia), cirrhotic (40 with cirrhosis of liver), and idiopathic thrombocytopenic purpura (ITP) (14 with ITP) groups. RESULTS: An IPF reference range in healthy individuals was established as 0.4-5.4%, with a mean of 1.7%. A significant increase in IPF values was found in the ITP patient group. The cut-off value of IPF was 6.1% and its sensitivity and specificity were 92.9%, and 82.9% respectively. Reproducibility was good. CONCLUSIONS: A rapid, inexpensive automated method for measuring IPF is feasible and should become a standard parameter in evaluating thrombocytopenic patients.
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Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Persona de Mediana Edad , Recuento de Plaquetas/métodos , Células Madre/citología , Trombocitopenia/diagnósticoRESUMEN
BACKGROUND: Oral anticoagulation with warfarin requires routine monitoring of prothrombin time to maintain the international normalized ratio (INR) within the appropriate therapeutic range. Coagu- Chek XS (Roche Diagnositic, Germany) is a portable coagulometer that measures the INR. We evaluated the precision and accuracy of CoaguCheck XS by comparing it with CA-1500 (Sysmex, Japan). METHODS: We analyzed the CV and the correlation of all INR results measured in 68 samples obtained from patients treated with warfarin and 10 samples from control subjects with no history of anticoagulant therapy with CoaguChek XS and CA-1500. We compared the turn-around time between two instruments and evaluated the differences between the results obtained with venous and capillary blood samples and those obtained with different lots of the test strip. We also evaluated the precision of the two instruments in 5 repeated tests with samples of normal and increased INR. RESULTS: Mean INR values of 5 repeated tests with the same samples were similar. The correlation of INR values between two instruments was excellent (r2=0.97, P=0.001), and the difference in the values between the two instruments was mostly within the 95% limit of agreement, but was shown to increase in direct proportion to INR values. The turn-around time of CoaguChek XS was shorter than that of CA-1500. The differences between venous and capillary blood and between different lots of the test trip were not significant (P>0.05). CONCLUSIONS: CoaguChek XS showed a good precision and correlation with CA-1500 with a very short turn-around time. This instrument should be clinically useful in monitoring INR of patients with oral anticoagulation.
Asunto(s)
Humanos , Administración Oral , Anticoagulantes/administración & dosificación , Monitoreo de Drogas , Relación Normalizada Internacional/instrumentación , Tiempo de Protrombina/instrumentación , Reproducibilidad de los Resultados , Autocuidado/instrumentación , Warfarina/administración & dosificaciónRESUMEN
Granulocytic sarcoma of the uterine adnexa is a rare event. A 50-year-old woman, who had previously been diagnosed as chronic myeloid leukemia (CML), but had a complete hematologic response, presented with lower abdominal pain and a large pelvic mass involving the right uterine adnexa region and extending to the right posterior wall of the bladder and right distal ureter. A biopsy of the uterine adnexa revealed granulocytic sarcoma, and a subsequent bone marrow biopsy confirmed the diagnosis of CML in the blastic phase.
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Femenino , Humanos , Persona de Mediana Edad , Dolor Abdominal , Anexos Uterinos , Biopsia , Médula Ósea , Diagnóstico , Leucemia Mielógena Crónica BCR-ABL Positiva , Recurrencia , Sarcoma Mieloide , Uréter , Vejiga UrinariaRESUMEN
We present a case of two siblings with different chromosome 21 abnormalities that are both de novo [r (21) /i (21p13) mosaicism and rob (14; 21) ]. Molecular studies using polymorphic markers have shown that these two aberrations had a common maternal origin. However, the parents were cytogenetically and phenotypically normal. This unusual association has not been reported and is considered to be a unique case that should be addressed.