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This neoplasm is not reportable.
Name
Bloom syndrome
Reportability
This neoplasm is not reportable
Abstractor Notes
Bloom syndrome is part of the Genetic tumour syndromes associated with hematolymphoid tumours table in the WHO 5th edition of Hematolymphoid Tumors. (See Appendix B in the Hematopoietic Manual, Table B22)
Affected individuals show abnormal growth, feeding difficulties, skin changes, immune deficiency, an increased risk of diabetes, and an increased risk of a variety of cancer types at a younger age, with a variety of haematological malignancies, including acute myeloid leukaemia (AML), lymphoblastic leukaemia/lymphoma (ALL/LBL), and lymphoma. Solid tumours and the development of multiple cancers of varying histology are common.
Bloom syndrome is not reportable; however, any cancers related to Bloom syndrome are.
Affected individuals show abnormal growth, feeding difficulties, skin changes, immune deficiency, an increased risk of diabetes, and an increased risk of a variety of cancer types at a younger age, with a variety of haematological malignancies, including acute myeloid leukaemia (AML), lymphoblastic leukaemia/lymphoma (ALL/LBL), and lymphoma. Solid tumours and the development of multiple cancers of varying histology are common.
Bloom syndrome is not reportable; however, any cancers related to Bloom syndrome are.
Definition
Bloom syndrome is an autosomal recessive disorder characterized by perinatal growth deficiency, skin photosensitivity, typical facial features, insulin resistance, and immune deficiency leading to a marked increase in risk of early-onset cancer and the development of myeloid and lymphoid neoplasms. Loss-of-function variants of BLM, encoding RECQ, are the cause of Bloom syndrome.
Sources
WHO Classification of Tumours Editorial Board. Haematolymphoid tumours. Lyon (France): International Agency for Research on Cancer; 2024. (WHO classification of tumours series, 5th ed.; vol. 11). https://publications.iarc.who.int/637.
