Renal medullary carcinoma in an adolescent with sickle cell trait.

We describe the complex presentation of a patient with renal medullary carcinoma, a newly described entity primarily affecting young patients with sickle cell trait. Renal medullary carcinoma is an aggressive, rapidly destructive tumor associated with a delayed diagnosis and a poor outcome. The most common presenting signs and symptoms include hematuria, abdominal or flank pain, and weight loss. Sickle cell trait as the sole cause of hematuria in young black patients is a diagnosis of exclusion. Hemoglobin electrophoresis, intravenous pyelography, and computed tomography scans should be the minimal studies performed in young black patients with hematuria.

Acute megakaryoblastic leukemia following transient myeloproliferative disorder in a patient without Down syndrome.

Transient myeloproliferative disorder (TMD) and subsequent acute myeloid leukemia (AML) occur with increased frequency in infants and children with Down syndrome. TMD can also occur in phenotypically normal newborns. We describe the second case of a non-Down syndrome child with TMD who subsequently developed AML. Trisomy 21 karyotypic was restricted to hematopoietic cells in the blood and bone marrow. No other karyotypic abnormalities were found. Leukemic blasts showed megakaryoblastic features with immunophenotyping. This case shows that TMD in a child without Down syndrome may not be entirely benign. Close follow-up is warranted.

Optic pathway glioma infiltrating into somatostatinergic pathways in a young boy with gigantism. Case report.

The authors report gigantism in a 16-month-old boy with an extensive optic pathway glioma infiltrating into somatostatinergic pathways, as revealed by magnetic resonance imaging and immunocytochemical studies. Stereotactic biopsies of areas showing hyperintense signal abnormalities on T2-weighted images in and adjacent to the involved visual pathways provided rarely obtained histological correlation of such areas. The patient received chemotherapy, which resulted in reduction of size and signal intensity of the tumor and stabilization of vision and growth velocity.

Burkitt's lymphoma: a pericardial presentation.

Described herein is a case of childhood Burkitt's lymphoma initially presenting as a pericardial effusion. A cytological diagnosis was made from a Wright's-Giemsa stained cytospin preparation. Supporting diagnostic evidence was provided by immunological surface marker analysis and electron microscopy. To our knowledge, Burkitt's lymphoma has not hitherto been diagnosed initially from the morphology of cells in pericardial fluid.

Erythroleukemia in a child: value of immunocytochemistry and transmission electron microscopy in its diagnosis.

A 4 1/2-year-old girl presented with erythroleukemia (EL) that mimicked acute lymphocytic leukemia (ALL). The diagnosis was established with transmission electron microscopy (TEM) and immunocytochemical staining for hemoglobin. Erythroleukemia may present in childhood and may require TEM and immunocytochemistry to make the diagnosis. The correct diagnosis is extremely important since EL has a much poorer prognosis and requires entirely different therapy. Therefore, it is most important to consider EL in those cases of ALL in which the data are not clear-cut and in which the patient fails to respond.

Hand-mirror variant of acute lymphoblastic leukemia. Evidence for early T-cell lineage in two cases by evaluation with monoclonal antibodies.

Lymphoid cells from two patients with hand-mirror variant of acute lymphoblastic leukemia (ALL) were studied with various monoclonal antibodies in attempts to determine their derivation and differentiation. The predominant feature of the malignant bone marrow cells was strong reactivity with antibody 3A1, which stains the majority of normal T-cells and is apparently present on all T-ALL cells. In addition, a less intense binding was observed with antibody 4F2, which reacts with activated or rapidly dividing cells, and antibody 10.2, which reacts with all thymocytes and most peripheral T-cells. Most other antibodies with a wide variety of specificities were not reactive or, in the case of a few anti-T-cell antibodies showed, by fluorescence-activated cell sorter analysis only weak staining on some cells. Sequential bone marrow studies in one patient, before and during treatment with chemotherapy, revealed a reduction of 3A1-positive cells, concordant with a decrease of malignant cells in the marrow. When involved lymph nodes, peripheral blood, or marrow were studied, similar reactivity patterns were found in all locations. The data obtained suggest that in both patients with hand-mirror variant of ALL, the malignant lymphoid cells were immature cells of early T-lymphocyte lineage. The relation of phenotype by monoclonal antibody analysis to hand-mirror morphologic type and biologic function is discussed.

Factitious diabetes mellitus confirmed by ascorbic acid.

We report a girl aged 31/2 years in whom signs and symptoms of diabetes mellitus were falsified by the mother. Evaluation in hospital rapidly ruled out diabetes mellitus and the use of ascorbic acid as a marker enabled us to prove urine substitution by the girl's mother.

Morphologic observations of contact-induced lysis of EBV-infected B lymphocytes by autologous hand mirror T cells.

To study the possible immunologic role of hand mirror lymphocytes (HML) in the control of Epstein-Barr virus (EBV)-infected B lymphocytes in patients with infectious mononucleosis (IM), we studied the in vitro interactions of these cells by time-lapse video light microscopy. Peripheral blood T lymphocytes isolated from three patients in the early recovery phase of IM were mixed with their autologous EBV-infected B cells. Motile lymphocytes with their characteristic hand mirror shape were observed to attach by their uropods to the B cells. The HML remained attached for variable periods ranging from 45-75 min. Following detachment, B cells that were in contact with HML underwent lysis. Mixtures of T cells from healthy donors and EBV-infected cell lines exhibited only rare uropod formation with no attachment or lysis of B cells. The present experiment indicates that contact-induced lysis of EBV-infected B lymphocytes is operative in IM and that this process is mediated by the HML.

Successful treatment of metastatic extragonadal endodermal sinus (yolk sac) tumor in childhood.

Two children with metastatic extragonadal endodermal sinus tumor who had failed VAC chemotherapy were treated with combination chemotherapy consisting of cis-platinum, vinblastine, doxorubicin HCl (Adriamycin) and bleomycin (cis-VAB). There was a complete response in both patients with one child remaining tumor-free 3 1/2 years after metastasis and 2 1/2 years after stopping therapy. The main toxic reactions encountered were associated with the use of cis-platinum, but these were manageable and resolved upon completion of therapy. Cis-VAB appears to be a safe and effective regimen for the treatment of metastatic endodermal sinus tumor. A study of the efficacy of cis-VAB in a larger group of children with endodermal sinus tumor of poor prognosis seems indicated.

Chronic myelomonocytic leukemia in childhood.

A four-year-old child with recurrent infections and increasing hepatosplenomegaly over a three-year period was evaluated. Increased numbers of myeloid precursors packed the bone marrow and infiltrated the peripheral blood. A diagnosis of chronic myelogenous leukemia (CML) was considered but could not be confirmed by laboratory studies appropriate for the types of CML usually observed in childhood. Examination of the patient's peripheral blood smears revealed many atypical monocytoid cells with unipolar hairy projections. Scanning electron microscopy showed these to be leukemic monoblasts with characteristic broad-based ruffles on the cell surface. A population of myeloid precursors possessing narrow ridge-like profiles was also observed. Progressive infiltration of the spleen caused hypersplenism which necessitated splenectomy. Subsequently, massive liver and bone marrow involvement led to the patient's death. Terminally, the proliferating blast cells were demonstrated to be leukemic monoblasts by analysis of cytochemical staining patterns, surface immunoglobulins, serum lysozyme levels, and monocyte-mediated antibody-dependent cellular cytotoxicity studies. The findings in this case are most compatible with a diagnosis of chronic myelomonocytic leukemia (CMML), a condition not previously described in childhood. Several myeloproliferative disorders with prolonged survival have been reported in children, but special studies were not performed to determine which cell lines were abnormally proliferating. The similarities between these children and our patient with CMML suggest that monocyte studies may be useful in the diagnosis of these unusual disorders, provide insights into their pathogenesis, and aid in the selection of appropriate therapy.