Maria Casteels-Van Daele

Cytogenetic and immunohistochemical evidence that giant cell fibroblastoma is related to dermatofibrosarcoma protuberans

From cytogenetic and immunohistochemical findings in a primary giant cell fibrosarcoma and its recurrence, it is further demonstrated that a close relationship exists between this tumor and dermatofibrosarcoma protuberans. Both tumors express CD34 and show rearrangements of chromosomes 17 and 22. Genes Chromosom Cancer 15:73–75 (1996).

Reye syndrome revisited: a descriptive term covering a group of heterogeneous disorders

Abstract Reye syndrome, characterised by the combination of liver disease and non-inflammatory encephalopathy, is a non-specific clinicopathological entity and a descriptive term covering a group of heterogeneous disorders. Nowadays, some of these patients are diagnosed more correctly as having infectious, metabolic, toxic or other disease. The non-specific case definition implies that the epidemiological studies suggesting a link with acetylsalicylic acid have been performed on a heterogeneous group of children, whereby the value of these studies and their ensuing hypothesis is weakened. Moreover, a detailed analysis of the epidemiological surveys of the Centers for Disease Control, the Yale study and of the British risk factor study provides evidence that not only the use of acetylsalicylic acid but also that of phenothiazines and other anti-emetics is significantly greater in Reye syndrome cases than in controls. As to the decline of Reye syndrome, recent literature data reveal that this is related to more accurate modern diagnosis of infectious, metabolic or toxic disease, reducing the percentage of idiopathic or true cases of Reye syndrome. Conclusion Reye syndrome is a non-specific descriptive term covering a group of heterogeneous disorders. Moreover, not only the use of acetylsalicylic acid but also of antiemetics is statistically significant in Reye syndrome cases. Both facts weaken the validity of the epidemiological surveys suggesting a link with acetylsalicylic acid.

Anomalies of the long arm of chromosome 11 in human myelo- and lymphoproliferative disorders. I. Acute nonlymphocytic leukemia

In a series of 365 consecutive ANLL cases of which 45.1% had abnormal karyotypes, 13 cases were detected with a structural abnormality of the long arm of chromosome 11. Besides one isochromosome 11q, there were six deletions and six translocations. Of these 12 patients, seven had acute monocytic leukemia (FAB-type M5), two had an M4, two had an M2, and one case of secondary leukemia had an M3-like disorder. Similar results with regard to the type of leukemia were obtained upon analysis of 41 cases of ANLL with an 11q anomaly described in the literature. This study confirms that a high proportion of acute monocytic leukemias and a lesser proportion of acute myelomonocytic leukemias are characterized by an 11q anomaly, mostly involving bands q22 and/or q23. Acute monocytic leukemia with an 11q structural anomaly appears to have a poor prognosis.

Cytogenetic investigations in childhood chronic myelocytic leukemia.

Cytogenetic studies were performed on 25 chronic myelogenous leukemia patients aged between 6 mo and 19 yr. Of these, 14 presented with the adult form and 11 with the juvenile form of the disease. In patients with the adult type, 12 of 14 had a Ph chromosome and additional anomalies appearing during blastic transformation. In patients with the juvenile form, 6 of 11 had a monosomy 7 and a short survival time (median 10 mo). Salient features of these patients, as well as a survey of the pertinent literature on the subject, are presented in this paper.

A variant (2;13) translocation in rhabdomyosarcoma

Cytogenetic analysis of a right buttock mass from a 5-year-old boy showed translocation between an inverted chromosome 1 and a chromosome 13 as the sole cytogenetic abnormality. The breakpoint 13q14 appears to be the same as in previously reported cases of rhabdomyosarcoma (mostly of the alveolar type), but does not show involvement of 2q37. We suggest that this translocation may be a variant of the classical t(2;13)(q37;q14) found in rhabdomyosarcoma.

5q — syndrome in a child

A boy aged 8 years, 10 months presented with refractory anemia. Bone marrow investigation revealed monolobular megakaryocytes. Cytogenetic analysis showed a clonal abnormality: 46, XY, del(5)(q14q32). This is the youngest individual ever reported with this disorder. A year after diagnosis, while on treatment with human recombinant erythropoietin, the bone marrow showed an excess of blasts. No bone marrow donor could be found. Transformation to acute myelomonocytic leukemia occurred 3 months later. In spite of intensive chemotherapy, the child died of progressive disease with massive splenomegaly and jaundice. The case illustrates that the 5q- syndrome can occur de novo in children. The outcome in this child was poor, which may reflect a difference from the adult 5q- syndrome or may possibly be related to the erythropoietin the child received.

Loss of the Y-chromosome in a malignant Sertoli tumor

Abstract Loss of the Y-chromosome as the sole chromosome abnormality was found in a malignant Sertoli tumor in a 5-year-old boy.

PURPURA AND ACETYLSALICYLIC ACID THERAPY

Three cases are reported of children presenting purpura while taking a normal dose of ace‐tylsalicylic acid since a few days. Studies of the platelet function showed an impaired platelet aggregation by an inhibition of ADP release. It is concluded that this mechanism is responsible for the clinical findings, and that an acetylsalicylic acid therapy should always be considered in the differential diagnosis of a non‐thrombocytopenic purpura.

Juvenile fibrosarcoma of the temporal bone.

A case of juvenile fibrosarcoma arising from the head and neck region is described. This type of tumour should be considered as a separate entity different from the fibrosarcoma in adults because of the different clinical behaviour. The symptomatology, the radiographic features and the literature data are reviewed.