Olaparib for metastatic breast cancer in a patient with a germline PALB2 variant

被引：19

作者：

Kuemmel, Sherko ^{[1
]}

Harrach, Hakima ^{[1
]}

Schmutzler, Rita K. ^{[2
,3
]}

Kostara, Athina ^{[1
]}

Ziegler-Loehr, Katja

Dyson, Mark H. ^{[1
]}

Chiari, Ouafaa ^{[1
]}

Reinisch, Mattea ^{[1
]}

机构：

[1] Kliniken Essen Mitte, Interdisciplinary Breast Unit, Essen, Germany

[2] Univ Cologne, Ctr Familial Breast & Ovarian Canc, Ctr Integrated Oncol CIO, Fac Med, Cologne, Germany

[3] Univ Hosp Cologne, Cologne, Germany

来源：

NPJ BREAST CANCER | 2020年 / 6卷 / 01期

关键词：

MUTATION; BRCA2;

D O I：

10.1038/s41523-020-00174-9

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

There is a strong biologic rationale that poly(adenosine diphosphate-ribose) polymerase (PARP) inhibitors may benefit a broader range of metastatic breast cancer (MBC) patients than covered by current approvals, which require a germline BRCA1/2 sequence variant affecting function. We report a patient with germline/somatic BRCA1/2 wild-type MBC, who had a dramatic response to the PARP inhibitor olaparib of at least 8 months' duration. The patient is a 37-year-old woman with recurrent, hormone receptor-positive, HER2-negative MBC that had progressed despite hormonal therapy and palbociclib. Sensitivity to olaparib was likely conferred by a germline sequence variant affecting function in PALB2 (exon 1, c.18G>T, p.(=)). This case documenting activity of olaparib monotherapy in germline/somatic BRCA1/2 wild-type MBC illustrates that the clinical potential of PARP inhibition in MBC extends beyond currently approved indications to additional patients whose tumors have (epi)genetic changes affecting homologous recombination repair.

引用

页数：4

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