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一名患有独特细胞遗传学异常的先天性白血病患者的良好预后。

A Favourable Outcome in a Congenital Leukaemia Patient With Unique Cytogenetic Abnormalities.

作者信息

Ankathil Ravindran, Mohd Yunus Nazihah, Zakaria Wan Nur Amalina, Iberahim Salfarina, Hamid Mohd Ridzuan, Annuar Aziati Azwari

机构信息

Department of Cytogenetics and Genomics, Jubilee Centre for Medical Research, Jubilee Mission Medical College and Research Institute, Thrissur, IND.

Central Research Laboratory, PMS College of Dental Sciences and Research, Trivandrum, IND.

出版信息

Cureus. 2024 Sep 27;16(9):e70345. doi: 10.7759/cureus.70345. eCollection 2024 Sep.

Abstract

Congenital leukaemia (CL) is an exceptionally uncommon hematologic malignancy originating intrauterine and is typically associated with an unfavourable prognosis. The present case is a seven-day-old Malay baby girl who presented with mild fever and hepatosplenomegaly. She was initially treated as neonatal sepsis however subsequent investigations with bone marrow, trephine biopsy and immunophenotyping were consistent with B acute lymphoblastic leukaemia. The peripheral blood smear showed the presence of 90% blast cells. Cytogenetically, she harboured an unusual complex karyotype, 46,XX,der(5) t(5;15)(p15;q15),del(7)(q33q35)/47,idem,+2.ish t(5;15)(wcp15+)+22(wcp22+).  This rare case with extremely atypical cytogenetic findings is being brought to light since the patient responded favourably to the standard chemotherapy Interfant 06 protocol, during which she obtained many episodes of remission, and she still survives after three years of treatment. Despite that, she carries del(7), which is normally associated with adverse outcomes in myeloid disorders, but not in lymphoid disorders; the existence of t(5;15)(p15;q15) could be the element that contributes to her fortunate outcome. Although trisomy 22 is identified as a clonal abnormality, its significance in her case and lymphoid disorders remains unknown and requires further investigation.

摘要

先天性白血病(CL)是一种极为罕见的血液系统恶性肿瘤,起源于子宫内,通常预后不良。本病例为一名7天大的马来女婴,表现为低热和肝脾肿大。她最初被诊断为新生儿败血症,但随后的骨髓检查、骨髓活检及免疫表型分析结果均符合B淋巴细胞母细胞白血病。外周血涂片显示90%为原始细胞。细胞遗传学检查发现,她具有一种异常复杂的核型:46,XX,der(5) t(5;15)(p15;q15),del(7)(q33q35)/47,idem,+2.ish t(5;15)(wcp15+)+22(wcp22+)。该病例细胞遗传学表现极为罕见且不典型,现予以报道。患者对标准化疗方案Interfant 06反应良好,多次获得缓解,治疗三年后仍存活。尽管如此,她携带del(7),这在髓系疾病中通常与不良预后相关,但在淋巴系疾病中并非如此;t(5;15)(p15;q15)的存在可能是她预后良好的原因。虽然22号染色体三体被确定为一种克隆性异常,但其在该病例及淋巴系疾病中的意义仍不明确,需要进一步研究。

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