FaCD Online Syndrome Fact Sheet

Last updated: 23 Apr 2009

Name: Bloom syndrome

Mode of Inheritance: AR

Genes

BLM, mapped to 15q26.1

Tumor features

breast cancer
cervical cancer
colon cancer
gastric cancer
hepatocellular cancer (hepatoma)
laryngeal cancer
leukemia, acute lymphoblastic (ALL)
leukemia, acute myeloid (AML, incl. ANLL)
lymphoma, malignant (Non-Hodgkin and/or Hodgkin)
oral cancer
skin cancer, basal cell
Wilms' tumor (nephroblastoma)

Tumor features (possible)

colorectal adenomas
external auditory canal cancer
medulloblastoma
myelodysplastic syndrome (MDS)
osteosarcoma
skin cancer, squamous cell
vaginal cancer

Non-tumor features

clinodactyly
growth deficieny
hyperpigmentation of the skin
hypopigmentation of the skin
immunodeficiency
increased chromosomal breakage
increased sister chromatid exchange
long small facies
mutagen sensitivity, increased
UV hypersensitivity
UV radiation sensitivity, increased

Non-tumor features (possible)

bone marrow monosomy 7 karyotype

Comment

Clinical features of this disorder are[1-4]: Short stature, dolichocephaly, excessive number of neoplasms (see below), characteristic facies (malar hypoplasia, prominent nose, small mandible, protuberant prominent ears, UV hypersensitivity of the skin (lesions appear mainly in the face and back of hand/forearms and), patchy hyperpigmentation (cafe au lait spots) and areas of hypopigmentation of the skin (predominantly on the trunk), variable degree of vomiting and diarrhea during infancy, diabetes mellitus, azoospermia and early menopause, immunodeficiency, average to low-average intelligence, sometimes mental retardation. Cytogenetic studies show increased sister-chromatid exchange and excessive number of chromatid gaps and breaks.

A wide range of neoplasms have been reported in Bloom syndrome: (in decreasing frequency)Non-Hodgkin lymphoma, skin cancer (predominantly basal cell type), acute lymphocytic and acute myelocytic leukemia, breast cancer, colon (diagnosed as early as age 16[5]) and rectal cancer, esophageal cancer, tongue cancer, laryngeal cancer, cervical cancer and endometrial cancer, tongue cancer, external auditory canal cancer, Wilms tumor, osteogenic sarcoma, medulloblastoma and meningioma, tonsillar cancer, retinoblastoma and myelodysplastic syndrome (associated with monosomy 7 [6]). Wang et al.[7] reported a 37-year-old man with ulcerative colitis complicated by colon cancer. Multiple colonic adenomas[8] as well as colonic polyposis[9] in a Bloom syndrome patient[8]. Hepatocellular cancer and vaginal cancer have been reported as well[10,11].

References

[1] German J. Bloom's syndrome. Dermatol Clin 1995; 13(1):7-18.
[2] German J. Bloom's syndrome .XX. The first 100 cancers. Cancer Genet Cytogenet 93[1], 100-106. 1997.
[3] German J, Passarge E. Bloom's syndrome. XII. Report from the registry for 1987. Clin Genet 1989; 35:57-69.
[4] Berkower AS, Biller HF. Head and neck cancer associated with Bloom's syndrome. Laryngoscope 1988; 98:746-748.
[5] Balci S, Aktas D. Mucinous carcinoma of the colon in a 16-year-old Turkish boy with Bloom syndrome: cytogenetic, histopathologic, TP53 gene and protein expression studies. Cancer Genet Cytogenet 1999; 111(1):45-48.
[6] Aktas D, Koc A, Boduroglu K, Hicsonmez G, Tuncbilek E. Myelodysplastic syndrome associated with monosomy 7 in a child with Bloom syndrome. Cancer Genet Cytogenet 2000; 116(1):44-46.
[7] Wang J, German J, Ashby K, French SW. Ulcerative colitis complicated by dysplasia-adenoma-carcinoma in a man with Bloom's syndrome. J Clin Gastroenterol 1999; 28(4):380-382.
[8] Thomas ER, Shanley S, Walker L, Eeles R. Surveillance and treatment of malignancy in Bloom syndrome. Clin Oncol (R Coll Radiol). 2008 Jun;20(5):375-9
[9] Lowy AM, Kordich JJ, Gismondi V, Varesco L, Blough RI, Groden J. Numerous colonic adenomas in an individual with Bloom's syndrome. Gastroenterology 2001; 121(2):435-9.
[10] Jain D, Hui P, McNamara J, Schwartz D, German J, Reyes-Múgica M. Bloom syndrome in sibs: first reports of hepatocellular carcinoma and Wilms tumor with documented anaplasia and nephrogenic rests. Pediatric and developmental pathology 2001 Nov-Dec; 4(6):585-9.
[11] Goudge CS, Downs LS, Judson PL, Argenta PA. Stage II squamous cell carcinoma of the vagina in a patient with Bloom syndrome: a case report. The Journal of reproductive medicine 2007; 52(6):557-9.