Acute myeloid leukemia with complex cytogenetic abnormalities associated with long-term use of oral colloidal silver as nutritional supplement - Case report and review of literature.

We report a case of acute myeloid leukemia with complex cytogenetic abnormalities suggestive of preexisting myelodysplastic syndrome in a patient with habitual ingestion of colloidal silver as nutritional supplement for over 10 years and the medical literature is reviewed.

Spontaneous hematoma of the thigh associated with antiproteinase-3 antibody in a patient with metastatic squamous cell carcinoma treated with nivolumab.

We report an unusual case of spontaneous intramuscular hematoma associated with antiproteinase 3 antibody in a patient with metastatic squamous cell carcinoma receiving nivolumab and the medical literature is reviewed.

Successful use of uridine triacetate (Vistogard) three weeks after capecitabine in a patient with homozygous dihydropyrimidine dehydrogenase mutation: A case report and review of the literature.

5-fluorouracil and capecitabine are chemotherapeutic agents commonly used to treat solid malignancies. Increased susceptibility to 5-fluorouracil or capecitabine, caused by impaired clearance, dihydropyrimidine dehydrogenase deficiency, or other genetic mutations in the enzymes that metabolize 5-fluorouracil can lead to severe life-threatening toxicities and are typically manifested by an early onset of symptoms. We report and discuss the management and outcome of capecitabine toxicity with the recently FDA approved antidote, uridine triacetate (Vistogard), in a 57-year-old female breast cancer patient with homozygous dihydropyrimidine dehydrogenase deficiency who received treatment beyond the recommended 96 h window from the last dose of capecitabine.

A case of recurrent pancytopenia in a patient with acute promyelocytic leukemia on maintenance chemotherapy and concomitant methyltetrahydrofolate reductase and thiopurine S-methyltransferase mutation - review of literature.

Pharmacogenetics is a study of how genetic variation of an individual affects the drug response. We report a case of recurrent pancytopenia resulting from maintenance chemotherapy in a patient with acute promyelocytic leukemia and two pharmacogenetic mutations, namely, methylene tetrahydrofolate reductase C677T homozygous mutation and thiopurine methyltransferase mutation.

Philadelphia chromosome positive myelodysplastic syndrome and acute myeloid leukemia-retrospective study and review of literature.

We conducted a retrospective study to define the significance of Philadelphia chromosome (Ph) in myelodysplastic syndrome and acute leukemia in the adults at this institution and the literature was reviewed. One hundred forty-eight cases of t(9;22)(q34;q11) were identified for the period September 1993 through August 2001. The presentation of 124 cases (84%) was that of typical CML in chronic phase. Nineteen cases (13%) presented as de novo ALL, two cases (1%) presented as de novo AML and three cases (2%) presented as myelodysplastic syndrome (MDS). The estimated incidences of t(9;22)(q34;q11) in ALL and AML are 21 and 0.6%, respectively. Ph+ AMLs are increasingly being reported with either M-BCR or m-BCR gene rearrangements, similar to those found with Ph+ ALL lending support to the notion that Ph+ AMLs are distinct entities and not merely blastic phases of undiagnosed CML. This is further supported by the existence of Ph+ MDS cases.

Central diabetes insipidus and inv(3)(q21q26) and monosomy 7 in acute myeloid leukemia.

Chromosomal anomalies involving region 3q21q26 have been reported associated with thrombocytosis in various hematological malignancies, such as chronic myeloid leukemia, myelodysplastic syndrome, and acute myeloid leukemia (AML). Recent reports described the association of central diabetes insipidus with AML and chromosomal anomalies involving region 3q21q26. We review the database in our institution and report five cases of inv(3)(q21q26) in consecutive cytogenetic studies of AML and myelodysplastic syndromes from 1992 to 2000, two cases presented as sole abnormalities and three cases were associated with monosomy 7. Only one case was associated with central diabetes insipidus. The literature of 3q21q26 syndrome and central diabetes insipidus in myeloid leukemia is reviewed.

Hematologic malignancies and Klinefelter syndrome. a chance association?

Klinefelter syndrome was first described in 1942 as an endocrine disorder characterized by gynecomastia, hypogonadism, small testes, and elevated levels of follicle-stimulating hormone. An extra X chromosome (i.e., 47,XXY) was subsequently demonstrated in these patients and an increased incidence of leukemia and lymphoma has been described. We report a retrospective study of a series of unselected patients with Klinefelter syndrome diagnosed by cytogenetic studies and the occurrence of hematologic malignancies. The literature is also reviewed.

Chronic myelocytic leukemia with eosinophilia, t(9;12)(q34;p13), and ETV6-ABL gene rearrangement: case report and review of the literature.

Chronic myelocytic leukemia (CML) is a chronic myeloproliferative disorder characterized by cytogenetic or molecular evidence of Philadelphia (Ph) chromosome, t(9;22)(q34;q11). Mild to moderate eosinophilia is commonly seen in CML. However, eosinophilia as a dominant feature of CML is extremely rare. We describe a case of Ph(-) CML with eosinophilia. Loeffler endocarditis, and t(9;12)(q34;p13) that resulted in an ETV6-ABL gene rearrangement/fusion identified to the best of our knowledge, for the first time by using commercially available fluorescence in situ hybridization probes.

Constitutional pericentric inversion of chromosome 9 and acute leukemia.

In view of the recent reports demonstrating delayed engraftment after autologous and allogeneic transplantation from donors with constitutional pericentric inversion of chromosome 9, [inv(9)], we conducted a retrospective study on six patients with acute leukemia and inv(9) to investigate if there is an impaired engraftment potential of the inv(9) hematopoietic stem cells. All but one of our patients had poor outcome. The hematopoietic recovery after induction chemotherapy was not prolonged. It is possible that the hematopoietic defects of inv(9) become more apparent after repeated courses of chemotherapy. Alternatively, the number of patients in our series may have been too small to detect a partial hematopoietic defect in patients with constitutional inv(9). Larger studies are required to confirm our findings.

Mucosa-associated lymhpoid tissue (MALT) lymphoma of the jejunum and Helicobacter pylori--chance association?

Helicobacter pylori have been causally linked to primary gastric B-cell lymphoma of the mucosa-associated lymphoid tissue (MALT) type. Antibiotic therapy to eradicate H. pylori has been shown to induce remission of such lymphoma. We report a case of primary B-cell MALT lymphoma of the jejunum associated with H. pylori. The literature of intestinal MALT lymphoma is reviewed.

Iron deficiency and thrombosis: literature review.

Compared to primary thrombocytosis such as that caused by essential thrombocytosis, reactive thrombocytosis is generally regarded as benign. However, reactive thrombocytosis has infrequently been reported to cause severe and even fatal complications. Two fatal cases of reactive thrombocytosis and iron deficiency anemia associated with peripheral/pulmonary vascular and cerebrovascular thrombosis are described. The literature on thrombosis and reactive thrombocytosis associated with iron deficiency anemia is reviewed.

Possible role of engraftment syndrome and autologous graft-versus-host disease in myelodysplastic syndrome after autologous stem cell transplantations: retrospective analysis and review of the literature.

BACKGROUND: We report a retrospective study of 452 patients with lymphoma from 1991 to 2006, with 274 men and 178 women, median age of 50 years (range, 16-76 years). PATIENTS AND METHODS: There were 85 patients with Hodgkin lymphoma (HL) and 367 with non-Hodgkin lymphoma (NHL). Eleven patients received a second autologous transplantation for progressive lymphoma, and another 4 received a second allogeneic transplantation for myelodysplastic syndrome (MDS). Twenty-seven patients had skin biopsies, and 2 patients had gastrointestinal biopsies consistent with graft-versus-host disease (GVHD), and 11 patients developed severe engraftment syndrome (ES), as defined by noninfectious fever and skin rash with or without pulmonary infiltrates requiring systemic steroids. RESULTS: The median follow-up of the patients was 6.2 years, and median overall survival was 5.3 years. Twenty-four patients (5.3%) developed MDS with median time of onset of 4.2 years (range, 8 months to 7.5 years). An additional 5 patients developed clonal karyotypic abnormalities in the bone marrow without clinical MDS. Actuarial probabilities of developing MDS at 5 and 8 years after transplantation were 5% and 15%, respectively. CONCLUSION: The incidences of MDS are similar in HL and NHL. Multivariate analysis revealed older age, occurrence of ES/GVHD, and longer intervals between the initial diagnoses to transplantation as independent factors. It is conceivable that perturbation to the host immunity caused by either previous chemotherapy or conditioning regimens in the elderly might play a role in the development of MDS after autologous transplantation.

Guillain-Barré syndrome after transplantation.

Guillain-Barré syndrome (GBS) is an unusual complication after organ and hematopoietic stem cell transplantation. We report two cases of GBS associated with autologous and allogeneic stem cell transplantation along with a review of the literature.

Copper deficiency causes reversible myelodysplasia.

Copper deficiency is a recognized but often overlooked cause of anemia and neutropenia. We began checking serum copper levels on patients referred for evaluation for unexplained anemia and neutropenia or myelodysplasia. Eight patients were identified as copper deficient (serum copper less than 70 microg/dL). The anemia was normochromic and normocytic in seven patients. Neutropenia was present in seven patients. Seven patients had been referred for evaluation of myelodysplasia. Three were seen for consideration for allogenic stem cell transplant. Five patients had concomitant peripheral neurological symptoms. Seven patients were treated with oral copper gluconate. All treated patients demonstrated a hematological response; seven had a complete remission. The improvement in anemia and neutropenia was rapid with normalization of blood counts within three to four weeks. In one patient, normalization of the underlying marrow dysplasia was demonstrated by bone marrow histology eight months after copper replacement. The cause of copper deficiency was felt to be gastrointestinal malabsorption in five of our patients. We conclude that copper deficiency should be considered in all patients with unexplained anemia and neutropenia or myelodysplasia.

Efficacy and safety of monoclonal anti-CD20 antibody (rituximab) for the treatment of patients with recurrent low-grade non-Hodgkin's lymphoma after high-dose chemotherapy and autologous hematopoietic cell transplantation.

The major cause of treatment failure following high-dose therapy with autologous hematopoietic cell transplantation (AHCT) for low-grade lymphomas (non-Hodgkin's lymphoma [NHL]) is persistent disease or recurrence. Most patients whose disease progresses following AHCT have resistant disease and limited bone marrow reserve. In this setting, treatment options are limited and responses to conventional chemotherapy are generally poor. Rituximab is a chimeric immunoglobulin G1 kappa monoclonal antibody that recognizes the CD20 antigen on B-cells. Published data on the use of rituximab for the treatment of recurrent NHL after autologous transplantation are limited. We present a detailed report of anti-CD20 antibody treatment for 8 patients with recurrent follicular low-grade NHL after high-dose therapy and autologous transplantation. Rituximab was administered at 375 mg/m2 intravenously once weekly for a total of 4 infusions. Median follow-up for this study was 23.4 months. Six (75%) of 8 patients responded to rituximab (2 complete response, 4 partial response). The Kaplan-Meier estimated median time to progression was 17.8 months. Rituximab was generally well tolerated. One patient developed delayed neutropenia. Other side effects were infusion related and transient. Two patients were re-treated with rituximab for progressive disease and achieved partial response. In summary, this retrospective study suggests that anti-CD20 antibody treatment is feasible in the treatment of patients who relapse or progress with low-grade NHL after autologous transplantation. There appears to be a high proportion of patients who benefit and have durable responses. Anti-CD20 antibody should be considered as a first-line salvage treatment for patients with CD20+ recurrent low-grade NBL in whom high-dose therapy has failed.