1/4. Chromosomal aberrations in bloom syndrome patients with myeloid malignancies.bloom syndrome (BS) predisposes affected individuals to a wide variety of neoplasms including hematological malignancies. Thus far, cytogenetic findings in hematological neoplasms have been reported in only a few BS patients. We present the karyotypic findings in a BS patient diagnosed with acute myeloid leukemia (AML), FAB subtype M1, and a review of the literature, showing the preferential occurrence of total or partial loss of chromosome 7 in BS patients with AML or myelodysplastic syndromes (MDS).- - - - - - - - - - ranking = 1keywords = neoplasm (Clic here for more details about this article) |
2/4. bloom syndrome in sibs: first reports of hepatocellular carcinoma and wilms tumor with documented anaplasia and nephrogenic rests.The triad of small body size, immunodeficiency, and sun-sensitive facial erythema characterizes the phenotype bloom syndrome (BS), a rare autosomal recessive disorder with a striking predisposition to multiple types of cancers that arise earlier than expected in the general population. Here we report two sibs with BS. The older, a 15-year-old-girl, developed a hepatocellular carcinoma, a neoplasm not yet reported in association with BS. Her younger brother developed an anaplastic wilms tumor (WT) associated with nephrogenic rests at the age of 31/2 years, and this was followed by a myelodysplastic syndrome. Complex cytogenetic abnormalities were identified in all three neoplasms. These examples expand the spectrum of malignancies occurring in BS to include liver cell neoplasms, and confirm the association of nephrogenic rests with WT, even in the setting of BS.- - - - - - - - - - ranking = 1.5keywords = neoplasm (Clic here for more details about this article) |
3/4. head and neck cancer associated with Bloom's syndrome.Bloom's syndrome (BS) is an autosomal recessive growth disorder associated with chromosomal breaks and rearrangements. Affected individuals exhibit a significantly elevated rate of cancer at an early age. Twenty-seven percent of patients with BS have malignant neoplasms at a mean age of 20.7 years. Since the first description of BS in 1954, five cases of primary head and neck cancer have been identified in the first 103 patients, including two tongue carcinomas and three laryngeal carcinomas. The patients ranged in age from 26 to 34 and included smokers and nonsmokers. The presenting symptoms and histology were identical with those of non-Bloom's syndrome patients. head and neck cancer represents approximately 6% of all human tumors. This is in contrast with an 18% incidence rate of head and neck cancer among all cancers observed in BS patients. The head and neck surgeon should consider BS in the differential diagnosis of young cancer patients.- - - - - - - - - - ranking = 0.5keywords = neoplasm (Clic here for more details about this article) |
4/4. Non-endemic Burkitt's lymphoma in a patient with Bloom's syndrome.Bloom's syndrome is an autosomal recessive disorder characterized by intrauterine growth retardation, typical physical signs, immunodeficiency and an increased risk of developing neoplasms at a young age, compared to the general population. Factors possibly involved in the pathogenesis of non-endemic Burkitt's lymphoma in a five year old girl with Bloom's syndrome are discussed. These include immunodeficiency, upregulated c-myc expression and an Epstein-Barr viral infection.- - - - - - - - - - ranking = 0.5keywords = neoplasm (Clic here for more details about this article) |