這是2018年5月16日刊登在《British Journal of Haematology(英國血液學雜誌)》上的一篇案例報導,小編將進行翻譯。和WHO藍皮書的翻譯系列類似,原案例報導的英語原文在前(並有蘋果綠底色),中文翻譯在後。
原文截圖:
A 28-year-old man with no relevant previous medical history was referred to our haematology department with asthenia and epistaxis.
【翻譯】一位28歲的男性因乏力和鼻衄來到我們血液科就診,此前並無相關的病史。
A full blood count showed: leucocytes 29.47×10e9/L, haemoglobin concentration (Hb) 83 g/L and platelet count 14×10e9/L.
【翻譯】血常規示:白細胞計數 29.47×10e9/L,血紅蛋白 83 g/L,血小板計數14×10e9/L。
The peripheral blood film showed 65% blast cells with prominent nuclear invaginations (left), identified as cup-like blasts (CLB).
【翻譯】外周血塗片可見65%顯著核內陷的原始細胞,確定為杯口狀核原始細胞(CLB)。
There was no basophilia.
【翻譯】無嗜鹼性粒細胞增多。
A bone marrow aspirate was of normal cellularity with 78% blast cells and no multilineage dysplasia.
【翻譯】骨髓穿刺顯示骨髓增生程度正常(即增生活躍),原始細胞佔78%,無多系病態造血。
Peroxidase cytochemistry was weakly positive.
【翻譯】POX染色為弱陽性。
Conventional karyotyping found t(6;9)(p23;q34.1), predicted to lead to a DEK-NUP214 fusion.
【翻譯】常規染色體核型分析發現t(6;9)(p23;q34.1),將導致DEK-NUP214融合基因。
Molecular study showed KRAS and U2AF1 mutations but not NPM1 mutation or FLT3 internal tandem duplication (ITD).
【翻譯】分子學檢查未見NPM1和FLT3-ITD突變,而是KRAS和U2AF1突變。
This acute myeloid leukaemia (AML) was refractory to induction chemotherapy with idarubicin 9 mg/m^2 for 5 days and cytarabine 200/m^2 for 7 days.
【翻譯】這種急性髓系白血病對9 mg/m^2 × 5天的柔紅黴素和200/m^2 × 7天的阿糖胞苷誘導化療不敏感。
Unfortunately, the patient died despite three different treatments.
【翻譯】儘管使用了三種治療方案,患者依然不幸去世。
A few months later, a 61-year-old woman presented with anaemia (Hb 68 g/L), prominent leucocytosis (44×10e9/L) and thrombocytopenia (45×10e9/L).
【翻譯】數個月後,一個61歲的女性因貧血(Hb 68 g/L),顯著白細胞升高(44×10e9/L)和血小板減少(45×10e9/L)來診。
A peripheral blood film showed 66% blasts with cup-like morphology (right) and no basophilia.
【翻譯】外周血塗片可見65%杯口狀形態的原始細胞,沒有嗜鹼性粒細胞增多。
A bone marrow aspirate showed increased cellularity and 82% blast cells with major dyserythropoiesis and dysgranulopoiesis.
【翻譯】骨髓塗片顯示骨髓增生程度增加(即增生明顯活躍),原始細胞佔82%,伴有較多的紅系和粒系發育異常。
Cytology and immunophenotyping led to a diagnosis of acute monoblastic leukemia.
【翻譯】根據細胞學和免疫表型診斷為急性原始單核細胞白血病(小編註:相當於FAB的M5a)。
Conventional karyotyping revealed t(6;9)(p23;q34.1) in 12 metaphases plus trisomy 8 and trisomy 13 in 3 metaphases.
【翻譯】常規染色體核型分析發現,12個中期分裂象中具有t(6;9)(p23;q34.1),另有3個中期分裂象中可見8號和13號染色體三體。
Molecular study showed FLT3-ITD and SF3B1 mutation but not NPM1 mutation.
【翻譯】分子學檢查發現FLT3-ITD和SF3B1突變,未見NPM1突變。
The patient failed to achieve complete remission with induction chemotherapy (daunorubicin 60 mg/m^2 for 3 days, cytarabine 200 mg/m^2 and midostaurine 100 mg for 14 days).
【翻譯】患者誘導化療後未能獲得完全緩解(柔紅黴素60 mg/m^2 × 3天,阿糖胞苷 200 mg/m^2 ×14天,米哚妥林 100mg × 14天)
小編註:米哚妥林似乎是一種針對FLT3-ITD突變的靶向藥物。
CLB-AML is mostly found in association with a normal karyotype and mutated NPM1 and/or FLT3-ITD; NPM1-mutated cases are associated with a lack of blast cell expression of CD34 and HLA-DR.
【翻譯】具有杯口狀核原始細胞的急性髓系白血病最常見於正常核型的NPM1和/或FLT3-ITD突變;NPM1突變的病例,原始細胞缺乏CD34和HLA-DR的表達(即不表達)。
Our patients show an association of CLB with t(6;9) with blast cells expressing CD34 and HLA-DR.
【翻譯】我們的病例則顯示杯口狀核原始細胞與t(6;9)和CD34、HLA-DR表達的關係。
Associated mutations differed between the two patients.
【翻譯】兩個患者的相關突變不同。
FLT3-ITD was found in only one and NPM1 mutation in neither.
【翻譯】其中一位具有FLT3-ITD突變,兩位均沒有NPM1突變。
Our cases demonstrate a possible association of CBL with t(6;9)(p23;q34.1).
【翻譯】我們病例的證實了杯口狀核原始細胞可能與t(6;9)(p23;q34.1)易位相關。
Noting this cytological feature may indicate this subtype of AML, which has an unfavourable prognosis with a median survival of 1 year.
【翻譯】應注意該形態學特徵對這種預後不良,中位生存期僅1年的急性髓系白血病的提示意義。
相關閱讀:
急性髓系白血病伴t(6;9)(p23;q34.1);DEK-NUP214的檢驗診斷
小編查閱文獻後注意到,除了NPM1和/或FLT3-ITD突變,其他遺傳學改變出現杯口細胞幾乎都是個例,只有t(6;9)(p23;q34.1)和/或DEK-NUP214報導了不止一例;最近在視頻號裡又看到一例(如視頻號),是陸軍軍醫大學第一附屬醫院(西南醫院)黃興琴老師遇到的。