Reporting a case of two brothers in the 60th with Multiple Myeloma and Non-Hodgkins Lymphoma respectively. Genetic testing revealed heterozygosity for BLM gene c.1933 C>T variant.
When autosomal recessive, Bloom syndrome is characterized by small stature, microcephaly, abnormal skin pigmentation, facial anomalies, sun-sensitive facial erythema, infertility, immunodeficiency, and predisposition to a wide variety of cancers.
In this family, there was no known history of Bloom syndrome.
An interesting feature of our case is the presence of hematologic malignancy in heterozygotes for the BLM gene.