PURPOSE: To report a case of chronic, progressive unilateral blepharoptosis in a 73-year-old woman with Waldenström's macroglobulinemia. METHOD: Case report. A biopsy was performed on a thickened and indurated tarsal plate that we believed had resulted in mechanical blepharoptosis. RESULTS: Histologic and immunohistochemistry studies of the biopsy specimen demonstrated a ...

The development of therapy-related acute myeloid leukemia (t-AML) has become a growing concern over the past decade, because of the increase in the percentage of long-term survivors of primary malignancy. We reviewed 17 cases with etoposide-related acute promyelocytic leukemia (APL) reported in the literature. The close association between treatment with ...

Acute lymphoblastic leukemia (ALL) of B-cell lineage may be classified using the French-American-British (FAB) classification as L1, L2, or L3 type. L1 and L2 ALLs characteristically express terminal deoxynucleotidyl transferase (TdT) and are surface immunoglobulin (sIg)-negative. In contrast, L3 ALL is typically TdT-negative and sIg-positive. However, in a few large ...

Peripheral acute leukemia (PAL) is extremely rare. We report on the first case of acute megakaryocytic leukemia presenting with PAL and complex chromosomal abnormalities. At diagnosis, the patient had 10.5-21% marrow blasts and 55-60% peripheral blasts which expressed CD42b and CD61. Two related clones with the karyotype of 48,X,-X,+3,+9,del(9)(q12q31) x ...

A new case of translocation t(6;11)(q21;q23) in a patient with therapy-related acute myeloblastic leukemia is reported. The translocation results in fusion of the MLL and AF6q21 genes. The breakpoint with AF6q21 is located within the sequences encoding the AF6q21 fork head motif. The similar location of the localization of the ...

The translocation t(10;11)(p13;q14) has been observed in acute lymphoblastic leukemia (ALL) as well as acute myeloid leukemia (AML). A recent study showed a MLL/AF10 fusion in all cases of AML with t(10;11) and various breakpoints on chromosome 11 ranging from q13 to q23. We recently cloned CALM (Clathrin Assembly Lymphoid ...

The inv(16)(p13q22) masked by different translocations was detected by fluorescence in situ hybridization (FISH) and confirmed by molecular analysis in three adult patients presenting with acute myeloid leukemia (AML)-M2 (cases 1 and 3) and M4Eo (case 2). Cytogenetic analysis revealed 47,XX,t(9;16)(p23;p13),+22 (case 1); 46,XX,t(1;16)(p32;p13) (case 2); and 46,XY,?del(16)(q22) (case 3). ...

Transient pancytopenia preceding childhood acute lymphoblastic leukemia (ALL) is an unfrequent but well-known event. The association of this preleukemic syndrome with hepatitis is extremely rare, with only two such cases having been published in the literature. We report the case of a 16-year-old boy who was diagnosed with B-cell type ...

The major vault lung resistance protein LRP is a cytoplasmic protein involved in drug resistance, especially in acute myeloid leukemia. We looked for LRP overexpression, using immunocytochemistry with LRP 56 monoclonal antibody, on marrow slides from 41 cases of myelodysplastic syndromes (MDS). LRP overexpression (LRP+) was defined by expression of ...

We report the case of a young adult male carrying a constitutional unbalanced t(Y;13)(q11-12;p13) leading to a partial Y disomy, and presenting successively, in a 39-month interval, with an Askin tumor and a t(8;21) acute myeloid leukemia. The origin of the two neoplasias in this patient is discussed.

In this report, we present a patient with chronic myeloid leukemia (CML) in blastic phase who had two consecutive episodes of spontaneous regression back to chronic phase without chemotherapy. Although, spontaneous remission (SR) is well documented in acute leukemia, SR in CML blastic phase is extremely rare and to the ...

A 72-year-old man with increased monocytes and eosinophils in the bone marrow was found to have an isochromosome, i(14q), as the sole abnormality on bone-marrow cytogenetics. Follow-up over 12 months with repeat cytogenetic testing of bone marrow specimens on three further occasions showed an additional abnormality consisting of an apparently ...

This study reviewed the immunophenotyping results of children with acute leukemia in Kelantan, Malaysia. In the 3.5-year period (January 1994 to June 1997), 45 cases were identified. All children were under the age of 12 years and the predominant ethnic group was Malay. Thirty-six cases (80%) were acute lymphoblastic leukemia ...

Three cases of acute nonlymphocytic leukemia with a Philadelphia chromosome (Ph) as a secondary abnormality are reported. The Ph was late-appearing in one patient and appeared as an additional anomaly in the other two patients. Fluorescence in situ hybridization studies of the first patient identified the presence of a minor ...

Prolymphocytic leukemia (PLL) is a rare lymphoproliferative disorder that takes a rapidly progressive course and where therapeutic interventions are often unsuccessful. In this context, the new purine analogs may be a promising option. We report two cases of PLL treated with cladribine. The first patient had been resistant to polychemotherapy ...

Using a non-isotopic ligand binding assay, we quantitatively examined the amount of human thrombopoietin (TPO) receptor (TPO-R) on leukaemia cells from 128 patients with acute myeloid leukaemia (AML) or acute lymphoblastic leukaemia (ALL). The TPO-R was expressed in 53 (47%) of 114 AML cases, and an in vitro treatment with ...

Cancrum oris, noma or gangrenous stomatitis is a disease which affects primarily undernourished and immunosuppressed young children. Frequent in underdeveloped countries, it also is seen in rare cases of patients with AIDS and leukemia in America and in Europe. Once fatal, the disease is now better understood and today the ...

To highlight the need for early diagnosis and treatment of the rare condition of necrotising fasciitis as a complication of botulinum toxin injection, and to illustrate that injections in immunocompromised patients carry a rare but serious risk. A case report is presented of an 80-year-old woman suffering from blepharospasm and ...

Unilateral laterothoracic exanthem (ULE) is a rare childhood condition of unknown etiology characterized by a morbilliform rash that usually begins in the axilla and spreads centrifugally. The condition is usually self-limited, does not require specific treatment, and disappears within 4 to 6 weeks. Pruritus may be relieved by oral antihistamines ...

We report a case of acute myeloid leukemia (AML) with trisomy 10 as the sole abnormality. We have observed this case among 202 de novo and untreated AML examined cytogenetically in our laboratory during the last 10 years. The patient was an adult man diagnosed with AML-M2. An interesting morphologic ...

Acute promyelocytic leukaemia (APL) is characterized cytogenetically by t(15;17)(q22:q21) which results in the production of a PML/RAR alpha fusion protein. Detection of the translocation or the fusion gene product is required for objective diagnosis of APL. This can be accomplished by conventional cytogenetic methods, fluorescence in situ hybridization or RT-PCR. ...

Acute myeloid leukaemia (AML) with the t(8;21)(q22;q22) is deemed to be a 'good-risk' disease. 396 patients with AML at diagnosis were screened for the presence of t(8;21) and AML1/ETO fusion transcripts by cytogenetic and RT-PCR techniques respectively. 32 cases of t(8;21) were detected, all of which were also PCR positive. ...

We report a patient with acute lymphoblastic leukemia, who presented with pericardial effusion. There was no haematologic evidence of leukemia at the time of presentation. The pericardial effusion resolved with chemotherapy. Although a common finding at autopsy, clinically evident pericardial effusion is rare in leukemia. It is also extremely rare ...

Tetrasomy 8 is a rare form of acquired aneuploidy found exclusively in the myeloid leukemias. Hexasomy 8 is even rarer: only one case has been reported, thus far. We describe here the second case of hexasomy 8 as the sole abnormality in an elderly female patient with myelodysplastic syndrome (MDS).

We report here a case of fatal Penicillium citrinum infection. The patient, who suffered from acute myeloid leukemia, developed signs and symptoms typical of fungal pneumonia and pericardial tamponade after undergoing standard induction chemotherapy. Despite attaining complete remission of her leukemia, the patient succumbed 8 weeks after presentation. At autopsy, ...

A fatal case of Rhodotorula glutinis fungemia in an 11-year-old boy with acute lymphoblastic leukemia undergoing third reinduction chemotherapy is reported. This is the first case of fungemia by Rhodotorula glutinis reported in Brazil.

Localized extramedullary collection of leukemic cells is termed as granulocytic sarcoma. Incidences of 2-8% in acute myeloid leukemia have been reported in various autopsy studies. In female it usually involves ovary. Since most of such tumors are asymptomatic, they are detected only at autopsy. We report here a case who ...

Allogeneic BMT offers the possibility of cure for a variety of hematopoietic malignancies, but disease relapse remains a major cause of treatment failure. This report describes two cases in which flow cytometric cell sorting (FACS) and molecular chimerism analysis were combined to increase the sensitivity of minimal residual disease (MRD) ...

Central nervous system involvement in chronic lymphocytic leukemia is rare. We describe a patient with early stage chronic lymphocytic leukemia who developed visual loss and transient paresthesias. Lumbar puncture with cytology and flow cytometry documented leukemic meningitis, which responded to standard treatment; including cranial irradiation and intrathecal chemotherapy. We review ...

Some cases of hypereosinophilic syndrome and myeloproliferative disorders exhibit common features and thus pose diagnostic and therapeutic problems. We describe a 68-year-old patient who presented with such features and developed lytic lesion in the tibia. Based on our case and a review of literature we suggest that cases like ours ...

Hyperploidy is a rare finding in leukemias, with isolated cases of tetraploidy reported in acute myeloblastic and acute lymphblastic leukemias. We report the first case of acute myeloid leukemia with near-pentaploidy (5 n+/-) which was present in 100% of metaphases at diagnosis. By light microscopy, the leukemic blasts were exceptionally ...

Three consecutive cases of pediatric myelodysplastic syndrome (MDS) diagnosed over a three-year period in Queen Mary Hospital, Hong Kong, were described. Depending on the classification system used, they comprised two cases of chronic myelomonocytic leukemia (CMMoL) of which one can be reclassified as juvenile chronic myeloid leukemia (JCML) and one ...

There exists a great deal of overlap between many myelodysplastic syndromes and myeloproliferative disorders. This is most evident in the spectrum of disorders classified under the term chronic myeloid leukemia. These include chronic granulocytic leukemia, atypical chronic myeloid leukemia and chronic myelomonocytic leukemia. Current classification often does not clearly separate ...

A case of monoclonal gammopathy of undetermined significance (MGUS) which evolved directly into primary plasma cell leukemia (PCL) is reported. Even if MGUS and PCL represent the opposite aspects of the same immunoproliferative disorder, no previous cases of this direct evolution have been described, as stated by an accurate review ...

Neurological manifestations occur in about one-quarter of patients with chronic myelogenous leukaemia (CML), usually as a result of hyperleukocytosis, predisposing to intravascular thrombus formation. We report the clinical and pathological findings in a 16-year-old female with CML who presented with deafness, blindness and paraplegia, and discuss possible aetiopathogenetic mechanism.

Pseudotumor cerebri or idiopathic intracranial hypertension is a neurological syndrome characterized by signs and symptoms of intracranial hypertension without clinical and radiological evidence of infective or space occupying lesions. Iatrogenic factors are frequent; in particular, cases of Pseudotumor cerebri associated with all-trans-retinoic acid treatment in acute promyelocytic leukemia (APL) have ...

Rhinocerebral mucormycosis is a well-described fulminant fungal infection that typically presents acutely in patients with diabetic ketoacidosis or immunosuppression. Chronic presentations of rhinocerebral mucormycosis have also been described. In the chronic infection, the disease course is indolent and slowly progressive, often occurring over weeks to months. The authors report 2 ...

We describe t(8;16)(p11;p13) acute myeloid leukaemia (AML-M4) in a 12-year-old white male with a history of prenatal X-ray exposure. He had skin and bone involvement and some of the leukaemic blasts showed haemophagocytosis, characteristic features seen in t(8;16) AML. 20% of the reported cases of t(8;16)(p11;p13) AML are therapy-related and ...

Resistance to chemotherapy is a major problem in acute myeloid leukemia (AML). An important resistance mechanism in adult AML is active drug efflux mediated by the multidrug resistance protein-1 (MDR1). To determine if MDR1 is important in childhood AML, we examined MDR1 expression and functional dye/drug efflux in 20 pediatric/adolescent ...

We report a case of childhood acute mixed lineage leukemia (AMLL) with a translocation t(6;14)(q25;q32) as the main clonal abnormality. A comparison of this case with another one with similar cytogenetics and clinical findings may suggest that t(6;14)(q25;q32) is a non-random occurrence in childhood AMLL.

The detection of isochromosomes in the leukemias and in solid tumors has been well described in the literature, the most common being the i(17q), which is found in the blast crisis of CML and terminal stages of acute myeloid leukemia. Reports of isochromosome 7 have, however, been less well represented, ...

In order to establish diagnostic criteria for hypocellular acute leukemia (HL), we have reviewed 32 cases selected on the basis of hypothetical 40% or less cellularity, by focusing on morphology, immunophenotype, karyotype and response to low dose Ara-C (LDAC) regimen and compared them with 40 cases of myelodysplastic syndrome (MDS) ...

We report the case histories of identical twin brothers who developed concordant acute lymphoblastic leukemia at the age of 4 years and who later developed leukoencephalopathy and hydrocephalus related to central nervous system prophylaxis by, in the first case intrathecally administered methotrexate and, in the second by intrathecally administered methotrexate ...

Conjunctival chemosis is a commonly encountered clinical finding stemming from the presence of excess fluid in the conjunctiva. It is typically self-limiting or reversible if the underlying condition is treated. The authors present a series of seven cases of chronic localized conjunctival chemosis. Each patient had a localized area of ...

Current data on patients treated with human growth hormone (GH) were analyzed for the following safety topics. New leukemia. Thirteen of 46 new cases of leukemia were in non-Japanese patients without risk factors for leukemia (compared with at least 13 new cases expected). A possible increased occurrence of leukemia with ...

A 26-year-old man developed myelodysplasia rapidly progressing to acute myelomonocytic leukemia 3 years after receiving three cycles of ABVD chemotherapy and upper mantle and upper abdomen radiotherapy for stage IA Hodgkin's disease. This represents the fourth such case reported. The risk of secondary AML after ABVD or radiation therapy is ...

Two new cases of t(8;16)(p11;p13) in acute nonlymphocytic leukemia (ANLL) are described. These two patients in addition to the 34 previously described, showed a striking association with myelomonocytic (M4) or monocytic (M5) leukemia, extramedullary infiltration, erythrophagocytosis and disseminated intravascular coagulation. One of our patients showed a TCRbeta gene rearrangement. Alltogether ...

During the immunodiagnosis of 517 cases of acute myelogenous leukemia (AML) entered into the Medical Research Council (MRC) AML 10 trials, we have observed the CD34 precursor cell antigen more frequently in AML of M2 morphology, especially in the 84% of cases with the t(8;21) chromosomal translocation, than in any ...

We present a case report of a child who developed acute lymphoblastic leukemia, neurofibromatosis, optic glioma, and xanthogranulomatosis. This complex is unusual, not previously described, and appears to be a coincidence of different diseases. The importance of this case is that it may offer a clue to the genetic base ...

Acute leukemias carrying MLL rearrangements are characterized by a high degree of clinical and immunologic heterogeneity, as demonstrated by variability in their immunophenotype, consistent with lymphoid or myeloid/monoblastic derivation, as well as their occurrence in distinct age groups from infancy to adulthood. Recently, it was shown that inactivation of the ...