Wagner John E, Tolar Jakub, Levran Orna, Scholl Thomas, Deffenbaugh Amie, Satagopan Jaya, Ben-Porat Leah, Mah Katherine, Batish Sat Dev, Kutler David I, MacMillan Margaret L, Hanenberg Helmut, Auerbach Arleen D
Division of Pediatric Hematology, Oncology, and Blood Marrow Transplantation, University of Minnesota Medical School, Minneapolis, MN, USA.
Blood. 2004 Apr 15;103(8):3226-9. doi: 10.1182/blood-2003-09-3138. Epub 2004 Jan 8.
The breast cancer susceptibility gene BRCA2 has recently been identified as identical to the Fanconi anemia (FA) gene FANCD1. Here we expand the clinical implications of this discovery. Notably, we identified 6 children in 5 kindreds exhibiting the co-occurrence of BRCA2 mutations, FA, and early onset acute leukemia. Leukemia occurred at a median of 2.2 years of age in the BRCA2 patients in contrast to a median onset of 13.4 years in all other FA patients in the International Fanconi Anemia Registry (IFAR; P <.0001). Breast cancer was noted in 4 of the 5 kindreds. Of the 6 children with leukemia, 4 were treated with bone marrow transplantation and 2 are alive at 3 and 9 months after treatment. Our results suggest that BRCA2 testing should be considered in all patients with FA in whom the complementation group cannot be defined or in whom leukemia is diagnosed at or before 5 years of age.
乳腺癌易感基因BRCA2最近被确定与范可尼贫血（FA）基因FANCD1相同。在此，我们拓展了这一发现的临床意义。值得注意的是，我们在5个家族中发现了6名儿童，他们同时存在BRCA2突变、FA和早发性急性白血病。BRCA2患者白血病发病的中位年龄为2.2岁，相比之下，国际范可尼贫血登记处（IFAR）所有其他FA患者的中位发病年龄为13.4岁（P<.0001）。在5个家族中有4个发现了乳腺癌。6名白血病患儿中，4名接受了骨髓移植治疗，2名在治疗后3个月和9个月时存活。我们的结果表明，对于所有无法确定互补组或5岁及5岁之前被诊断为白血病的FA患者，均应考虑进行BRCA2检测。
