Mediastinal germ cell tumor in a child with precocious puberty and Klinefelter syndrome.

An 8-year-old boy presented with precocious puberty and a mediastinal mass. A computer search showed that this rare presentation is most common with germ cell tumor of the mediastinum in children with Klinefelter syndrome. The tumor was completely resected after preoperative chemotherapy, and the patient is well 2 years after the operation.

Primary lymphoepithelioma-like carcinoma of the lung in a child. Report of an Epstein-Barr virus-related neoplasm.

Lymphoepithelioma-like carcinoma (LEC), an undifferentiated carcinoma with pronounced lymphocytic infiltration, often is seen in the nasopharynx as well as in other areas. But such primary pulmonary lung neoplasms in children are rare, and we present the first reported case of primary pulmonary LEC in a child.

Primary mediastinal large cell lymphoma in children: a report from the Childrens Cancer Group.

Malignant lymphomas arising in the mediastinum account for approximately 60% of all mediastinal tumors in children; two-thirds are non-Hodgkin's lymphomas and one-third represent Hodgkin's disease. In contrast to adults, in children mediastinal non-Hodgkin's lymphomas are usually synonymous with lymphoblastic lymphoma, and nonlymphoblastic lymphomas are rare. We describe nine children with primary mediastinal large cell lymphoma who were treated with the Children's Cancer Group protocol CCG-503, a randomized phase III protocol for disseminated nonlymphoblastic lymphoma.

Long-term follow-up of patients treated with COMP or LSA2L2 therapy for childhood non-Hodgkin's lymphoma: a report of CCG-551 from the Childrens Cancer Group.

Purpose: We analyzed the long-term results of a Childrens Cancer Group (CCG) randomized study comparing cyclophosphamide, vincristine, methotrexate, and prednisone (COMP) versus LSA2L2 as treatment for childhood non-Hodgkin's lymphoma. The initial results were previously reported (N Engl J Med 308:559, 1983).

Patients And Methods: A total of 429 patients are reported here, 68 with localized disease and 361 with disseminated disease.

Hereditary spherocytosis associated with deletion of human erythrocyte ankyrin gene on chromosome 8.

Hereditary spherocytosis (HS) is one of the most common hereditary haemolytic anaemias. HS red cells from both autosound dominant and recessive variants are spectrin-deficient, which correlates with the severity of the disease. Some patients with recessive HS have a mutation in the spectrin alpha-2 domain (S.

Similar efficacy of 6 and 18 months of therapy with four drugs (COMP) for localized non-Hodgkin's lymphoma of children: a report from the Childrens Cancer Study Group.

Successful treatment of localized non-Hodgkin's lymphoma (NHL) in childhood with 18 months of cyclophosphamide, vincristine, methotrexate (MTX), and prednisone (COMP) prompted a randomized clinical trial to determine whether a 6-month course of the same therapy was as effective as an 18-month course when combined with local irradiation. Two successive Childrens Cancer Study Group (CCSG) protocols (CCG 551 and CCG 501) entered 232 eligible patients from October 1979 until April 1986. Initially, all children with localized disease were considered eligible, but by a subsequent amendment, those with lymphoblastic (LB) histology were excluded.

Homozygous deletion of the alpha- and beta 1-interferon genes in human leukemia and derived cell lines.

The loss of bands p21-22 from one chromosome 9 homologue as a consequence of a deletion of the short arm [del(9p)], unbalanced translocation, or monosomy 9 is frequently observed in the malignant cells of patients with lymphoid neoplasias, including acute lymphoblastic leukemia and non-Hodgkin lymphoma. The alpha- and beta 1-interferon genes have been assigned to this chromosome region (9p21-22). We now present evidence of the homozygous deletion of the interferon genes in neoplastic hematopoietic cell lines and primary leukemia cells in the presence or absence of chromosomal deletions that are detectable at the level of the light microscope.

The pathology of non-Hodgkin's lymphoma of childhood: II. Reproducibility and relevance of the histologic classification of "undifferentiated" lymphomas (Burkitt's versus non-Burkitt's).

The Children's Cancer Study Group conducted prospective clinical trials of 608 children with non-Hodgkin's lymphoma from 1977 to 1983. In 1980, significant differences in survival of children with disseminated disease correlated with histologic diagnosis and the randomized treatment employed. A pathology reproducibility review showed the lymphoblastic lymphoma cases to be virtually 100 per cent distinguishable histologically from the nonlymphoblastic lymphomas (Burkitt's, non-Burkitt's, and "histiocytic").

Association of red cell spherocytosis with deletion of the short arm of chromosome 8.

Congenital spherocytic anemia is a common disorder, but in most cases the nature of the underlying membrane lesion is unknown and the genetic defect has not yet been unequivocally mapped to a chromosome. We studied two dysmorphic siblings with neurologic findings and hemolytic anemia. Clinical and laboratory findings in these two siblings were consistent with the diagnosis of congenital spherocytosis whereas both parents and two unaffected siblings were normal.

Sickle cell anemia patients have low erythropoietin levels for their degree of anemia.

We have studied serum immunoreactive erythropoietin (SIE) levels in 28 patients with sickle cell anemia (SCA) without renal insufficiency and in 17 patients with nonhemoglobinopathy anemias of comparable severity using a sensitive radioimmunoassay procedure. An exponential relationship between SIE level and degree of anemia was noted in all patients. However, in nonhemoglobinopathy anemia, a sharp rise in the SIE level occurred as hemoglobin (Hb) levels fell below about 12 g/dL, whereas in sickle cell patients the increase was not marked until hemoglobin fell to about 9 g/dL.

Developmental pattern of splenic dysfunction in sickle cell disorders.

Splenic function in sickle hemoglobinopathy syndromes was assessed to determine the developmental pattern of splenic dysfunction. Nonvisualization of the spleen using technetium-99 metastable (99mTc) spleen scans correlated strongly with pocked (vesiculated) RBCs greater than or equal to 3.5%.

Lymphoblastic leukemia with lymphomatous features associated with abnormalities of the short arm of chromosome 9.

Patients with acute lymphoblastic leukemia (ALL) who present with bulky disease of the lymph nodes, spleen, or mediastinum--so-called "lymphomatous ALL"--appear to represent a distinct subgroup among patients with ALL of T-cell lineage who have different clinical findings, but the biologic basis for these differences is not known. While studying 65 patients with lymphoblastic leukemia whose karyotype was determined at diagnosis, we compared the findings in 8 patients with lymphomatous ALL and 57 patients whose presentations were more typical of ALL. Six patients with lymphomatous ALL had karyotypic abnormalities leading to loss of bands p21-p22 on the short arm of chromosome 9.

Human triosephosphate isomerase cDNA and protein structure. Studies of triosephosphate isomerase deficiency in man.

Nine cDNA clones of human adult liver triosephosphate (TP) isomerase have been isolated and characterized. All nine appear to be derived from a single mRNA species. DNA sequencing of one clone, designated pHTPI-5a, defined the last two nucleotides of the methionine initiation codon, the entire 744-nucleotide coding region of the mature polypeptide, and the entire 448-nucleotide 3' untranslated region.

Metastatic Wilms' tumor causing acute hepatic-vein occlusion (Budd-Chiari syndrome).

We describe a case of Wilms' tumor in a 6-yr-old girl which extended from the right kidney and completely obstructed the inferior vena cava and hepatic veins to the level of the right atrium, producing an acute Budd-Chiari syndrome. After an initial course of chemotherapy, the primary tumor was excised and, using cardiopulmonary bypass, the tumor thrombus was removed from the inferior vena cava and hepatic veins. The Budd-Chiari syndrome resolved and after triple-drug chemotherapy and radiotherapy under the National Wilms' Tumor Study-2 protocol the child has remained disease-free for 5 yr.

Diffuse malignant peritoneal mesothelioma in a 13-year-old girl. Report of a case and review of the literature.

A case of diffuse malignant peritoneal mesothelioma in a 13-year-old girl is described. The patient had a short history of abdominal pain, distention, and tenderness. At laparotomy she was found to have ascites and numerous nodules and plaques affecting the peritoneal cavity and the omentum.

Chromosome abnormalities in tumor cells from patients with sporadic Wilms' tumor.

The karyotype of nine of 11 Wilms' tumors was successfully analyzed using chromosome banding techniques. Peripheral lymphocytes had a normal karyotype in all six analyzed cases. Cultured cells from one tumor had a normal karyotype; however, they appeared to be fibroblasts.

Studies on the pathology of non-Hodgkin's lymphoma of childhood. I. The role of routine histopathology as a prognostic factor. A report from the Children's Cancer Study Group.

Between April 1977, and August 1980, the Children's Cancer Study Group (CCSG) conducted a clinical trial of childhood non-Hodgkin's lymphoma (NHL), randomizing 256 patients to one of two treatment regimens. A 4-drug regimen (regimen 1, modified cyclophosphamide, Oncorin [vincristine], methotrexate, prednisone [COMP] ) was compared with a 10-drug regimen (regimen 2, modified LSA2-L2). Using the Rappaport classification, the review pathologist diagnosed the 213 evaluable tissue specimens as follows: lymphoblastic (LC), 73; Burkitt's tumor (BT), 40; "undifferentiated" non-Burkitt's type (NB), 67; large cell or "histiocytic" lymphoma (HI), 29; and other types (OT), 4.

The treatment of localized non-Hodgkin's lymphoma in children: a report from the Children's Cancer Study Group.

Investigators of the Children's Cancer Study Group entered 73 children with previously untreated localized non-Hodgkin's lymphoma on a prospective randomized trial of systemic treatment with either a four-drug program (cyclophosphamide, vincristine, methotrexate, prednisone [COMP]) or a 10-drug (LSA2-L2 modified) program of 18 months duration. All patients received central nervous system prophylaxis with intrathecal methotrexate and most received local or regional radiation treatment. The three-year relapse-free survival rate for all patients (N = 73) was 84%; for COMP (N = 42) was 85%, and for LSA2-L2 (N = 31) was 84%.

Mediastinal mass in acute lymphoblastic leukemia.

Patients with acute lymphoblastic leukemia who have a mediastinal mass at the time of diagnosis are said to have a poor prognosis. However, many factors which may not be independent contribute to the success of treatment. We compared the disease characteristics and results of therapy in children having large mediastinal masses and lymphoblastic leukemia without mediastinal mass.