Hiçsönmez G, Cetin M, Yenicesu I, Olcay L, Koç A, Aktaş D, Tunçbilek E, Tuncer M
Department of Pediatric Hematology, Ihsan Dogramaci Children's Hospital, Hacettepe University, Ankara, Turkey.
Leuk Lymphoma. 2001 Aug;42(4):665-74. doi: 10.3109/10428190109099328.
Thirty-three children diagnosed with primary myelodysplastic syndrome (MDS) in a single institution over an 8 year period were evaluated with special emphasis on children who presented with extramedullary disease (EMD). EMD was present at diagnosis in 12 (36%) of the 33 children with MDS. Three patients with juvenile myelomonocytic leukemia (JMML) and 2 patients with chronic myelomonocytic leukemia (CMML) presented with pleural effusion. Pericardial effusion was present in 3 of these patients, two of whom also had thrombosis. Pyoderma gangrenosum, relapsing polychondritis were the initial findings in another two cases with JMML. Lymphadenopathy (n=1), gingival hypertrophy (n=2), orbital granulocytic sarcoma (n=1) and spinal mass (n=1) were the presenting findings in 5 patients with refractory anemia with excess of blasts in transformation. Since high-dose methylprednisolone (HDMP, 20-30 mg/kg/day) has been shown to induce differentiation and apoptosis of myeloid leukemic cells in children with different morphological subtypes of acute myeloid leukemia in vivo and in vitro, 25 children with de novo MDS were treated with combined HDMP and cytotoxic chemotherapy. Dramatic improvement of EMD and decrease in blast cells both in the peripheral blood and bone marrow were obtained following administration of short-course HDMP treatment alone as observed in children with AML. HDMP, combined with low-dose cytosine arabinoside and mitoxantrone were used for the remission induction. Remission was achieved in 8 (80%) of 10 children who presented with EMD and in 9 (60%) of 15 children without EMD. Long-term remission (>6 years) was obtained in 4 (two with JMML and two with CMML), three of whom presented with EMD. In conclusion EMD can be a presenting finding in childhood MDS as observed in adults. In addition, the beneficial effect of HDMP combined with more intensive chemotherapy should be explored as alternative therapy in children with MDS not suitable for bone marrow transplantation.
在8年期间，对一家机构中诊断为原发性骨髓增生异常综合征（MDS）的33名儿童进行了评估，特别关注出现髓外疾病（EMD）的儿童。33例MDS患儿中，12例（36%）在诊断时存在EMD。3例青少年粒单核细胞白血病（JMML）患者和2例慢性粒单核细胞白血病（CMML）患者出现胸腔积液。其中3例患者出现心包积液，其中2例还伴有血栓形成。坏疽性脓皮病、复发性多软骨炎是另外2例JMML患者的首发表现。5例转化型难治性贫血伴原始细胞增多患者的首发表现为淋巴结病（n = 1）、牙龈肥大（n = 2）、眼眶粒细胞肉瘤（n = 1）和脊柱肿块（n = 1）。由于高剂量甲泼尼龙（HDMP，20 - 30 mg/kg/天）已被证明在体内和体外均可诱导不同形态亚型的急性髓系白血病患儿的髓系白血病细胞分化和凋亡，因此对25例初发MDS患儿采用HDMP联合细胞毒性化疗进行治疗。如在急性髓系白血病患儿中观察到的那样，单独给予短疗程HDMP治疗后，EMD显著改善，外周血和骨髓中的原始细胞减少。HDMP联合小剂量阿糖胞苷和米托蒽醌用于诱导缓解。10例出现EMD的患儿中有8例（80%）达到缓解，15例未出现EMD的患儿中有9例（60%）达到缓解。4例（2例JMML和2例CMML）获得长期缓解（>6年），其中3例出现EMD。总之，如在成人中观察到的那样，EMD可以是儿童MDS的首发表现。此外，对于不适合骨髓移植的MDS患儿，应探索HDMP联合更强化疗的有益效果作为替代治疗方法。
