Department of Pathology, Boston Children's Hospital, Boston, MA.
Department of Pathology, Brigham and Women's Hospital, Boston, MA.
Am J Clin Pathol. 2019 Aug 1;152(3):258-276. doi: 10.1093/ajcp/aqz067.
The 2017 Workshop of the Society for Hematopathology/European Association for Haematopathology aimed to review clinical cases with germline predisposition to hematolymphoid neoplasms.
The Workshop Panel reviewed 51 cases with germline mutations and rendered consensus diagnoses. Of these, six cases were presented at the meeting by the submitting pathologists.
The cases submitted to the session covering germline predisposition included 16 cases with germline GATA2 mutations, 10 cases with germline RUNX1 mutations, two cases with germline CEBPA mutations, two germline TP53 mutations, and one case of germline DDX41 mutation. The most common diagnoses were acute myeloid leukemia (15 cases) and myelodysplastic syndrome (MDS, 14 cases).
The majority of the submitted neoplasms occurring in patients with germline predisposition were myeloid neoplasms with germline mutations in GATA2 and RUNX1. The presence of a germline predisposition mutation is not sufficient for a diagnosis of a neoplasm until the appearance of standard diagnostic features of a hematolymphoid malignancy manifest: in general, the diagnostic criteria for neoplasms associated with germline predisposition disorders are the same as those for sporadic cases.
血液病理学协会/欧洲血液病理学协会 2017 年研讨会旨在回顾具有血液淋巴肿瘤种系易感性的临床病例。
研讨会小组审查了 51 例种系突变病例，并达成了共识诊断。其中，有 6 例由提交病理学家在会议上展示。
提交给涵盖种系易感性的会议的病例包括 16 例种系 GATA2 突变、10 例种系 RUNX1 突变、2 例种系 CEBPA 突变、2 例种系 TP53 突变和 1 例种系 DDX41 突变。最常见的诊断是急性髓系白血病（15 例）和骨髓增生异常综合征（MDS，14 例）。
发生在具有种系易感性的患者中的大多数新生物是具有 GATA2 和 RUNX1 种系突变的髓系肿瘤。种系易感性突变的存在不足以诊断新生物，除非出现血液淋巴恶性肿瘤的标准诊断特征：一般来说，与种系易感性疾病相关的新生物的诊断标准与散发性病例相同。
