Triplication of the long arm of chromosome 1 (trp(1q)) is a very rare karyotypic abnormality in hematologic diseases. We report a case of acute myelogenous leukemia whose karyotype carried trp(1q) that was proved to be addition to preceding trisomy 8. A 62 year-old woman who visited our department because of general fatigue presented pancytopenia. Bone marrow examination revealed hypocellularity containing 22.4% of blastic cells. Acute myeloid leukemia with maturation was diagnosed. Karyotypic analysis of her marrow leukemic cells showed 47,XX,trp(1)(q21;q32),+8 in 19 of the 20 metaphases and 47,XX,+8 in the remaining one. Remission induction failure and combination chemotherapy had been repeated for the disease control. She died of interstitial pneumonia 3 years after the initial presentation. To date, trp(1q) has been shown to be involved in the pathogenesis of leukemia, myelodysplastic syndrome, lymphoma, and so on. However, the frequency is too low to elucidate precise role. Thus, world-wide accumulation of clinical data of trp(1q) is required.
The association of multiple myeloma (MM) with eosinophilia and eosinophilic pleural effusion is rare. We present a 69 year old female with MM, who presented with progressive shortness of breath for 6 months. She had anemia and leukocytosis, with predominant eosinophilia. She was found to have pleural effusion which on further work up was exudative with predominant eosinophilia. Bone marrow biopsy, serum, and urine protein electrophoresis were consistent with IgG MM. Bone marrow flow cytometry revealed plasma cells and eosinophil predominant cell lineage. Concomitant eosinophilic leukemia was ruled out. Pulmonary manifestations in MM have been reported, but pleural effusion is infrequently seen. Eosinophilic predominant pleural effusion is unusual in cases of MM.
Objective: To identify the treatment patterns of newly diagnosed multiple myeloma patients who were ineligible for stem cell transplant and initiated on a first line chemotherapy. Also to identify factors associated with first line treatment choice in an integrated healthcare delivery system in the U.S.
We are reporting a case of a 75-year-old African-American male with a history of sickle cell disease who presented to our hospital with loss of consciousness. Laboratory work revealed severe anemia. During pre-blood transfusion testing the patient was found to be positive for anti-Kell, anti-s, anti-S, and anti-U antibodies. Anemia improved after transfusion with matching blood. Anti U antibodies testing is not a routine testing before blood transfusion. The U-negative phenotype occurs almost exclusively in the African population and more in sickle cell disease patients. In these patients, it is important to identify and classify the alloantibodies.
The complex physiopathology of sickle cell disease involves many factors, among them adhesion molecules such as the α4β1 integrin or CD 49d and CD36. These antigens are found on immature reticulocytes or stress reticulocytes. We investigated whether there were links between the clinical manifestations and the presence of stress reticulocytes and the expression of CD 36 and CD 49d. We evaluated 60 SSFA2 homozygous sickle cell patients with complete blood count, the presence of total reticulocytes, total stress reticulocytes, and CD 36 and CD49d antigens with immunophenotyping by flow cytometry. Out of the 308, 845/uL reticulocytes, 48.2% and 42.5% expressed respectively CD 36 and CD 49d. In over 90% of patients, stress reticulocytes were found. The presence or absence of complications, or of moderate or severe clinical manifestations, was not correlated with the expression of CD36 and CD 49d. From a clinical point of view, there was no difference between subjects expressing or not the CD 36. Even if the level of stress reticulocytes, CD 49d + and CD 36 + reticulocytes were high, the clinical status was not correlated with the expression of adhesion molecules.
We report a case of a 16-year-old Iranian girl with transfusion-dependent thalassemia major who presented with chest pain. Laboratory investigations showed marked hypocalcemia, hypomagnesaemia, hyperphosphatemia, and an extremely low vitamin D3 level. She had a low parathyroid hormone (PTH) level. She was refractory to calcium and magnesium supplementation. However, she responded to oral cacitriol. She was diagnosed to have hypoparathyroidism most likely due to iron overload due to multitransfusions and vitamin D3 deficiency. Vitamin D3 deficiency most likely was independent of iron overload. Cardiomyopathy in this patient could have been secondary to iron overload and/or hypocalcemia. Hypocalcemia could have been due to hypoparathyroidism and/or the low vitamin D3 level. Her response to calcitriol but not to calcium and magnesium supplementation suggests that the hypocalcemia was due to hypoparathyroidism and/or vitamin D3 deficiency. The response to calcitriol also indicates that iron overload was not responsible since cardiac impairment due to iron overload would be refractory to calcitriol treatment. Cardiac failure in multitransfused patients is usually ascribed to hemosiderosis. This case demonstrates that hypocalcemia related to vitamin D3 insufficiency also can cause myocardial dysfunction. Patients with thalassemia minor should be periodically screened for calcium and vitamin D3 levels to avoid complications secondary to hypocalcemia.
A 3 year old girl with heterotaxy was diagnosed to have multisystem Langerhans cell histiocytosis (LCH) based on the typical dendritic cells in a scalp biopsy, positive CD1a and S-100, and multisystem involvement. She was treated with Vinblastine and Prednisolone. The first two weeks of therapy was complicated by mycoplasma pneumonia, respiratory syncytial virus pneumonia, and Clostridium difficile infection. She developed significant GI bleeding and anemia during the fourth week of therapy. A laparotomy was performed, and the procedure revealed extensive duodenum and jejunum intramural haemorrhage. A duodeno-jejunal resection and end-to-end duodeno-jejunal anastomosis were performed. Typical dendritic histiocytes were not found in the resected tissue and the tissue was CD1a negative. Gastrointestinal intramural haematomas have not been previously reported to occur in LCH. Intestinal intramural haemorrhage is a rare entity but occurs in children and is usually related to trauma. The exact aetiology of the duodeno-jejunal intramural haemorrhage in this case remains unexplained. Possible causes include: 1) trauma due to coughing that the patient had during her management; 2) effects of chemotherapy (unlikely since she was not significantly thrombocytopenic); 3) Langerhans cell histiocytosis involving the small intestine (unlikely since the resected tissue were histologically and immunologically negative for LCH); 4) Intrinsic defects in the child’s intestines since she was reported to have heterotaxy. This case reports an unusual complication that occurred in a 3 year old girl with LCH.
Background and Objectives: Transfusion-Related Acute Lung Injury (TRALI) is a serious complication of blood transfusion characterized by hypoxemia and pulmonary edema. Our study assessed TRALI occurrence, potential risk factors using a large administrative database and medical charts. Materials and Methods: This nested case-control study identified individuals with claims evidence of transfusion and TRALI occurrence from 1/1/07 through 12/31/09 using HealthCores Integrated Research Database (HIRDSM). Potential cases were ascertained by ICD-9-CM diagnosis code 518.7 and matched to controls who were transfused individuals without TRALI. Medical charts were evaluated and univariate conditional logistic regression was used to compare cases and controls by potential risk factors. Results: The study identified 346,972 transfused individuals with majority being females (59.8%), elderly (53.3%), and in the inpatient setting (85.3%). TRALI rates were higher in the inpatient setting, and lower for persons 80 years and over. TRALI rates by blood components ranged from 0.7 to 21.4 per 10,000 persons, with highest rate for platelets and plasma recipients (95% CI, 0.5-119.3). Of 10 confirmed cases, 2 persons died of TRALI. Confirmed cases were more likely to have direct or indirect lung injuries, cardiac surgeries, hematologic malignancies, other malignancies, and history of smoking. Conclusion: Our study highlights an important role that large administrative databases with medical charts can have in assessing TRALI occurrence and potential risk factors. Overall, this hypothesis-generating study suggests the need for further population-based investigations in the inpatient hospital setting to assess the effects of aging, health conditions, and other potential risk factors on TRALI occurrence.
Our goal was to determine the etiology of abnormal liver function in multi-transfused patients with beta thalassemia major
Patients with lymphoma have been known to present with autoimmune hemolytic anemia (AIHA). Most of the AIHA are caused by warm autoantibodies. Only a minority of patients with lymphoma present with cold agglutinin disease (CAD), with only a few reports on diffuse large B cell lymphoma (DLBCL) presenting as cold agglutinin disease. In this case report, we describe a patient with DLBCL presenting with agglutination of peripheral red blood cells at room temperature and cold autoantibody in the cross match blood sample. It further indicates the importance of including DLBCL and other lymphoma in the differential diagnosis of patients with CAD.
Mycosis fungoides is the most common form of cutaneous T-cell lymphoma, with the lungs being the most common site of extranodal involvement. Our patient is a 65 year old woman who was diagnosed with mycosis fungoides and presented with lung parenchymal infiltrates shortly thereafter. Histological examination of the lung lesion revealed an atypical small lymphocytic infiltration along with prominent granulomas and focal angiocentric lesions. Flow cytometry studies confirmed pulmonary involvement by mycosis fungoides. Granulomatous inflammation has been described earlier within the cutaneous infiltrates of mycosis fungoides. However, the presence of granulomas in the lungs involved by mycosis fungoides has only been described in one previous case report. We are reporting the second case of pulmonary involvement by mycosis fungoides with very unusual histologic features including the formation of epithelioid granulomas and angiocentric lesions, supported by flow cytometry studies.
Iomeprol is a newer triiodinated nonionic low osmolar monomeric radiographic contrast agent. The physicochemical characteristics of this compound show high water solubility (aqueous solutions of higher iodine concentrations) which allows the formulation of contrast media to have lower osmolalities and viscosities. Lower viscosity values make this contrast agent flow better through catheters, allowing easier manual injection. Its formulation contains 400 mg iodine/ml, the highest concentration so far available on the market for non-ionic contrast media, resulting in better X-ray attenuation and image quality. Although Iomeprol appears to have a favorable profile because of the absence of EDTA (ethylene diamine tetra acetic acid) and the presence of trometamol, hydrochloric acid, water as buffer and stabilizer in its structure, it is still unknown whether this has a distinct advantage on thrombogenicity. In this article, we investigated the potential thrombogenicity of Iomeprol, a non-ionic, low osmolar radiocontrast medium, by measuring its effect on platelet reactivity and noted similarities with other non-ionic low osmolar agents. With the use of ADP, AYPGKF, and collagen stimulation, this contrast agent inhibited platelet aggregation at 50% contrast concentration, whereas the contrast medium did not inhibit aggregation at 10% concentrations. This behavior was similar to other non-ionic agents in its class in terms of platelet reactivity despite its unique properties.
Initial treatment with radiation alone to doses >54 Gy with has become standard treatment for patients with limited stage extranodal natural killer/T-cell lymphoma, nasal type (NKTL-NT). We report on four consecutive non-Asian patients with NKTLNT treated with IMRT to spare critical structures while delivering high dose to the nasal and paranasal sinuses. Three patients are alive and without evidence of disease at 43.7, 19.5, and 30.4 months following radiation. One patient who died failed locally in an area of modest dose (45-50 Gy) as well as distantly. Acute toxicities were mainly mucositis (3 with Grade 2, 1 with Grade 3) managed with gabapentin and/or narcotics, Grade 2 xerostomia (1 patient), and Grade 1 dermatitis (1 patient).Two patients had late Grade 2 xerostomia and 1 patient required dacryocystorhonostomy for excessive tearing. Early stage NKTL-NT can be treated definitively with high-dose radiation treatment, and we believe that IMRT offers an advantage to improve the therapeutic index over conformal 3-dimensional RT.
This is the first report of the association of cold agglutinin disease with HbE trait. The patient was 58 year old male from Assam, India. Thalassemia, sickle cell disease and sickle-HbC have been found to be associated with cold agglutinin disease. Cold agglutinin disease has also been detected in patients with polycythemia vera. Erythrocytes in these disorders are likely to be immature and express more big “I” and little “I” antigens, the target antigens for cold agglutinins. Increased expression of big “I” and little “i” has been demonstrated in sickle cells. Conceivably, the increased expression of “I” and “I” in sickle cell disorders, thalassemia and HbE and polycythemia vera might render the erythrocytes in these disorders more vulnerable to cold agglutinins and hemolysis.
Hemangiomas are tumors identified by rapid endothelial cell proliferation in early infancy, followed by involution over time. All other abnormalities are malformations resulting from anomalous development of vascular plexuses. The malformations have a normal endothelial cell growth cycle that affects the veins, the capillaries, or the lymphatics and they do not involute. Hemangiomas are the most common tumors of infancy and are characterized by a proliferating and involuting phase. They are seen more commonly in whites than in blacks, more in females than in males in a ratio of 3: 1.
The kidneys are a site of extra medullary leukemic involvement that are usually involved late in the course of the disease. Renal leukemic involvement can give a myriad of appearances on imaging and is usually associated with extra medullary leukemic involvement elsewhere. We present 2 such cases of leukemic infiltration of the kidneys in two different clinical settings along with a review of the literature. In both cases however, the renal functions were maintained.
