| bloom syndrome is a rare autosomal recessive disorder characterized by normally proportioned but strikingly small body size, a characteristic facies and photosensitive facial skin lesion, immunodeficiency, and a marked predisposition to development of a variety of cancers. We describe here, we believe for the first time, pronounced sclerosing hyaline necrosis with mallory bodies in the liver of a patient with bloom syndrome. mallory bodies are cytoplasmic eosinophilic inclusions, which are more common in visibly damaged, swollen hepatocytes in various liver diseases but are never found in normal liver. The possible pathogenesis of this finding in bloom syndrome is discussed. ( info) |
2/50. Mucinous carcinoma of the colon in a 16-year-old Turkish boy with bloom syndrome: cytogenetic, histopathologic, TP53 gene and protein expression studies. A 17-year-old Turkish boy with bloom syndrome (BS) developed mucinous carcinoma of the transverse colon. He was followed from 2 to 17 years of age. Increased sister chromatid exchanges (SCE) were observed, and he was diagnosed with BS at the age of 7. Sun-sensitive skin lesions were examined by skin biopsy, and histopathological studies of these lesions were done. During the follow-up period, an intraabdominal mass at the transverse colon was found, and mucinous carcinoma of colon was diagnosed at the age of 16. We examined TP53 protein expression from paraffin-embedded colon tissue of the patient with an immunohistochemical method. polymerase chain reaction products of exons 4-9 of the TP53 gene were examined by SSCP. No evidence of overexpression of TP53 protein or mutations of the TP53 gene was observed. The patient in this report is the first case with a mucinous carcinoma of colon diagnosed at an early age in the bloom syndrome Registry. Based on our results, carcinoma of the colon in BS patient may occur earlier than 35 years of age and the TP53 gene may not be directly related to carcinoma in bloom syndrome. ( info) |
3/50. Ulcerative colitis complicated by dysplasia-adenoma-carcinoma in a man with Bloom's syndrome. Bloom's syndrome (BS) is a rare genetic disorder in which the major clinical feature is growth deficiency. The genome in BS somatic cells is unstable, and hypermutability explains many clinical features. Most notably, affected persons are at enormously increased risk of developing many types of cancers at different sites. It has been well known that ulcerative colitis (UC) is associated with the spectrum of epithelial changes signifying dysplasia and the progression to frank carcinoma. We report here a case of UC complicated by dysplasia-adenoma-carcinoma sequence in a 37-year-old man with BS. ( info) |
4/50. Myelodysplastic syndrome associated with monosomy 7 in a child with bloom syndrome. bloom syndrome is a genomic instability syndrome associated with predisposition to development of various types of malignancy. In this report, we described a 7-year-old boy with bloom syndrome (BS) and myelodysplastic syndrome (MDS) associated with monosomy 7 and loss of the y chromosome. To our knowledge, this was the first case with BS showing monosomy 7 and MDS during the early childhood period. ( info) |
5/50. Two siblings with Bloom's syndrome exhibit different clinical features: possible effect of sex. Bloom's syndrome is a rare autosomal recessive disease. All patients with Bloom's syndrome have prenatally onset growth retardation and an increased tendency to develop various types of cancer. Features other than these are not constant and may not be present in some of the patients. Reason for the phenotypic heterogeneity is not clear. Different mutations in the same locus may explain the heterogeneous phenotypes in different ethnic groups. Here we present a seven-year-old boy and his four-year-old sister, both with Bloom's syndrome, who exhibit different clinical features with respect to sun-sensitive skin lesions. The sister has severe facial sun-sensitive skin lesions whereas her brother has none. It is expected that two siblings who are supposed to have the same mutation should also have similar clinical features. Possible role of environmental effects and sex are discussed. ( info) |
6/50. Nuclear structure in normal and bloom syndrome cells. bloom syndrome (BS) is a rare cancer-predisposing disorder in which the cells of affected persons have a high frequency of somatic mutation and genomic instability. BLM, the protein altered in BS, is a RecQ dna helicase. This report shows that BLM is found in the nucleus of normal human cells in the nuclear domain 10 or promyelocytic leukemia nuclear bodies. These structures are punctate depots of proteins disrupted upon viral infection and in certain human malignancies. BLM is found primarily in nuclear domain 10 except during s phase when it colocalizes with the werner syndrome gene product, WRN, in the nucleolus. BLM colocalizes with a select subset of telomeres in normal cells and with large telomeric clusters seen in simian virus 40-transformed normal fibroblasts. During s phase, BS cells expel micronuclei containing sites of dna synthesis. BLM is likely to be part of a dna surveillance mechanism operating during s phase. ( info) |
7/50. An intracranial carcinoma in a Mexican woman with bloom syndrome. An intracranial cell squamous carcinoma was found in a 27-year-old Mexican woman with bloom syndrome (BS), including growth retardation, sun-sensitive telangiectatic erythema, defective immunity, and increased number of mitotic chiasmata and sister chromatid exchanges. The tumour, probably originating from the inner or middle ear epithelium, was resected but the patient died a few days after surgery. There was no parental consanguinity nor Jewish or European ancestry for at least five generations; in fact, her parents were mostly indigenous people. This case represents an undescribed intracranial malignancy in BS and the third Mexican BS patient reported. The typical BS phenotype in a woman with pigmented skin challenges the contention that pigmented females are less severely affected. ( info) |
8/50. Immunohistochemical expression and pathogenesis of BLM in the human brain and visceral organs. bloom syndrome (BS) involves the clinical features of telangiectatic erythema, immunodeficiency, and an increased risk for cancer. In order to clarify the pathogenetic significance of the responsible gene, BLM, which encodes a protein possessing homology to escherichia coli RecQ helicase, the immunohistochemistry of BLM was examined in human brains and visceral organs from fetuses to adults and an adult with BS, using anti-BLM antibodies. purkinje cells exhibited positive BLM immunoreactivity from 21 gestational weeks (GW), which transiently increased at approximately 40 GW. neurons of the pontine tegmentum were immunolabeled from the early fetal period. In visceral organs, positive BLM immunoreactivity was observed in the Hassal corpuscles in the thymus from 24 GW, in beta-cells in the Langerhans islets of the pancreas from 36 GW, and in sperm cells and sperms of the testes from 11 years of age. But in a patient with BS, it was negative in the pancreas and testis tissues examined. The characteristic effect of BLM on specific cells in different periods suggests that the BLM gene product is closely related to neuronal development as well as immune, insulin secretory and sperm functions, which appear in different periods, and disorders of which are major symptoms of BS. ( info) |
9/50. 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). ( info) |
| bloom syndrome is a rare autosomal recessive disorder notable for increased chromosome fragility and an increased rate of somatic mutation. The clinical manifestations include small stature, a characteristic dermatologic lesion, and an excess incidence of malignancy. fertility is generally reduced. A 19-year-old white woman with bloom syndrome was successfully treated for preterm labor at 32 weeks' gestation, and ultimately delivered a healthy male infant at 35 weeks' gestation. Reports of pregnancy in women with bloom syndrome are few. Despite reduced fertility, conception can occur, and women with bloom syndrome should receive appropriate reproductive counseling to prevent unintended pregnancies and increased surveillance for preterm birth. ( info) |