Bernardi Simona, Farina Mirko, Zanaglio Camilla, Cattina Federica, Polverelli Nicola, Schieppati Francesca, Re Federica, Foroni Chiara, Malagola Michele, Dunbar Andrew J, Russo Domenico
Chair of Hematology, Unit of Blood Diseases and Stem Cell Transplantation, Department of Clinical and Experimental Sciences, University of Brescia, ASST Spedali Civili di Brescia, 25123 Brescia, Italy.
CREA Laboratory (Centro di Ricerca Emato-Oncologica AIL), ASST Spedali Civili di Brescia, 25123 Brescia, Italy.
Case Rep Hematol. 2020 Jan 11;2020:2795656. doi: 10.1155/2020/2795656. eCollection 2020.
The identification of germline mutations in familial leukemia predisposition genes by next generation sequencing is of pivotal importance. Lately, some "blend pedigrees" characterized by both solid and hematologic malignancies have been described. Some genes were recognized as related to this double predisposition, while the involvement of others is still a matter of debate. was associated with hematologic malignancies, in particular myeloid malignancies, and recently described as mutated also in oncologic patients. No clear evidences in its involvement in blend pedigrees are known. . We present our recent experience in the identification of an was associated with hematologic malignancies, in particular myeloid malignancies, and recently described as mutated also in oncologic patients. No clear evidences in its involvement in blend pedigrees are known. was associated with hematologic malignancies, in particular myeloid malignancies, and recently described as mutated also in oncologic patients. No clear evidences in its involvement in blend pedigrees are known. was associated with hematologic malignancies, in particular myeloid malignancies, and recently described as mutated also in oncologic patients. No clear evidences in its involvement in blend pedigrees are known.
This evidence supports the involvement of in the predisposition to both solid and hematologic neoplasia and the importance of the investigation of the noncoding regions of the genes as recently suggested by different expert groups. was associated with hematologic malignancies, in particular myeloid malignancies, and recently described as mutated also in oncologic patients. No clear evidences in its involvement in blend pedigrees are known.
通过下一代测序鉴定家族性白血病易感基因中的种系突变至关重要。最近，已经描述了一些以实体和血液系统恶性肿瘤为特征的“混合谱系”。一些基因被认为与这种双重易感性有关，而其他基因的参与仍存在争议。 与血液系统恶性肿瘤相关，特别是髓系恶性肿瘤，最近在肿瘤患者中也被描述为发生了突变。目前尚不清楚其在混合谱系中的参与情况。 我们介绍了我们最近在鉴定一个 与血液系统恶性肿瘤相关，特别是髓系恶性肿瘤，最近在肿瘤患者中也被描述为发生了突变。目前尚不清楚其在混合谱系中的参与情况。 与血液系统恶性肿瘤相关，特别是髓系恶性肿瘤，最近在肿瘤患者中也被描述为发生了突变。目前尚不清楚其在混合谱系中的参与情况。 与血液系统恶性肿瘤相关，特别是髓系恶性肿瘤，最近在肿瘤患者中也被描述为发生了突变。目前尚不清楚其在混合谱系中的参与情况。
这一证据支持 参与实体和血液系统肿瘤的易感性，以及如不同专家组最近所建议的对基因非编码区进行研究的重要性。与血液系统恶性肿瘤相关，特别是髓系恶性肿瘤，最近在肿瘤患者中也被描述为发生了突变。目前尚不清楚其在混合谱系中的参与情况。
