Vundinti B R, Korgaonkar S, Ghosh K
Department of Cytogenetics, National Institute of Immunohaematology, 13th floor, New multistoried building, K.E.M. Hospital campus, Parel, Mumbai, India.
Indian J Cancer. 2010 Oct-Dec;47(4):397-9. doi: 10.4103/0019-509X.73575.
Fanconi anemia (FA) is an autosomal recessive, cancer susceptibility disorder characterized by diverse clinical features, such as short stature, skeletal or skin abnormalities, progressive bone marrow (BM) failure, and increased risk of malignancies. Clonal chromosomal abnormalities are frequently reported in FA patients transformed to myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML).
To study the incidence of malignancy and clonal chromosomal abnormalities in FA patients.
Thirty-eight clinically diagnosed FA patients were studied at the time of diagnosis and the patients were followed-up for a maximum of 28 months at 3-month intervals. The median duration of follow-up of these patients was 19.8 months. Chromosomal breakage investigation using mitomycin C (MMC)- and diepoxybutane (DEB)-induced peripheral blood cultures were stimulated with phytohemagglutinin. Cytogenetic study was done on the BM cells to detect clonal chromosomal aberrations.
Eleven (28.95%) out of 38 patients developed malignancies, including 6 (54.54%) MDS, 4 (36.36%) AML, and 1 (2.63%) squamous cell carcinoma. The clonal chromosomal abnormalities were detected in 5 (45.45%) FA patients who developed malignancies and the type of chromosomal abnormality detected were monosomies 5, 7, trisomy 10, dup(1)(q12-q24), and inv(7)(p11pter).
The FA patients have a high risk of developing malignancies, and clonal chromosomal abnormalities play an important role in the prognosis of the disease. Therefore, FA patients need to be followed-up at regular intervals for early diagnosis and optimal management of the disease.
范可尼贫血（FA）是一种常染色体隐性遗传性癌症易感性疾病，其临床特征多样，如身材矮小、骨骼或皮肤异常、进行性骨髓（BM）衰竭以及恶性肿瘤风险增加。在转化为骨髓增生异常综合征（MDS）和急性髓系白血病（AML）的FA患者中，克隆性染色体异常屡有报道。
研究FA患者中恶性肿瘤及克隆性染色体异常的发生率。
对38例临床诊断为FA的患者在确诊时进行研究，并对患者进行随访，最长随访28个月，随访间隔为3个月。这些患者的中位随访时间为19.8个月。使用丝裂霉素C（MMC）和二环氧丁烷（DEB）诱导外周血培养进行染色体断裂检测，并用植物血凝素刺激。对骨髓细胞进行细胞遗传学研究以检测克隆性染色体畸变。
38例患者中有11例（28.95%）发生恶性肿瘤，其中6例（54.54%）为MDS，4例（36.36%）为AML，1例（2.63%）为鳞状细胞癌。在发生恶性肿瘤的5例（45.45%）FA患者中检测到克隆性染色体异常，检测到的染色体异常类型为5号、7号染色体单体，10号染色体三体，dup(1)(q12-q24)以及inv(7)(p11pter)。
FA患者发生恶性肿瘤的风险较高，克隆性染色体异常在该疾病的预后中起重要作用。因此，FA患者需要定期随访以便对疾病进行早期诊断和优化管理。
