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🌱 來自: chronic myelogenous leukemia (CML)

biology of chronic myelogenous leukemia (CML)

什麼事Philadelphia (Ph)染色體？他會產生什麼蛋白質？

• 摘要：Ph染色體是指BCR-ABL1基因融合，該基因位於染色體9（ABL1）和22之間的互換易位t(9;22)(q34;q11)。幾乎在所有慢性粒線白血病（CML）病例中都可以發現這一變異。該基因融合編碼了一種失調的酪氨酸激酶（TK），在CML的病理機制中起著重要作用。進一步，這一變異可能導致疾病進展到加速期或爆發危機，同時伴隨著進一步的分子變化。

• 原文：Philadelphia (Ph) chromosome refers to the BCR-ABL1 gene fusion, a reciprocal translocation between chromosomes 9 (ABL1) and 22 t(9;22)(q34;q11), which is found in virtually all cases. This gene fusion encodes a deregulated tyrosine kinase (TK) implicated in the pathogenesis of chronic myeloid leukemia (CML). Furthermore, progression to the accelerated phase/blast crisis of CML is accompanied by the acquisition of additional molecular changes.

Three types of fusion proteins based on location of breakpoint in BCR gene:

1. p210: Classic breakpoint (>95% of pts); (also seen in 30% Ph+ ALL)
2. p230: Alternative breakpoint; found in only rare cases (<1%)
3. p190: Also rare (<1%); (common breakpoint in Ph+ ALL, 70%)

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• 摘要：在少數患者（<5％）中，可能存在變異的易位（例如，t(9;14;22)），因此，如果BCR-ABL1陰性，應進行細胞遺傳學和分子（PCR）檢測。
• 原文：It is important to note that a minority of patients (<5%) may have a variant translocation (e.g., t(9;14;22)). Therefore, if the BCR-ABL1 test is negative, cytogenetic and molecular (PCR) testing should be performed. 注意：這裡提到的PCR是指聚合酶鏈反應（polymerase chain reaction），用於檢測特定基因序列的技術。