Bien Ewa, Stachowicz-Stencel Teresa, Sierota Danuta, Polczynska Katarzyna, Szolkiewicz Anna, Stefanowicz Joanna, Adamkiewicz-Drozynska Elzbieta, Czauderna Piotr, Kosiak Wojciech, Dubaniewicz-Wybieralska Miroslawa, Izycka-Swieszewska Ewa, Balcerska Anna
Department of Paediatrics, Haematology, Oncology and Endocrinology, Medical University, 7 Debinki Street, 80-211 Gdansk, Poland.
Childs Nerv Syst. 2007 Oct;23(10):1147-53. doi: 10.1007/s00381-007-0392-8. Epub 2007 Jul 13.
Patients with neurofibromatosis type 1 (NF1) are predisposed to developing soft tissue sarcomas (STS).
We report on four cases of STS diagnosed in locally advanced, unresectable stages in children with NF1 (three girls, one boy; age = 8 months-14 years). All patients received protocols for STS: Cooperative Weichteilsarkomstudie 91, 96 and 2002. One patient with limb rhabdomyosarcoma entered complete remission but developed late metastatic relapse and died of progression despite complete excision and autologous bone marrow transplantation. The other patient with bladder rhabdomyosarcoma died of neutropenia-related sepsis without remission. Patients with malignant peripheral nerve sheet tumour and malignant triton tumour located in the pelvis did not respond to therapy. One of them died of disease progression, while the other is disease-free 6 years post-therapy after mutilating tumour resection.
STS in NF1 seem to display poor prognosis in spite of combined therapy; thus, children with NF1 should remain under detailed control of the oncologist.
1型神经纤维瘤病（NF1）患者易患软组织肉瘤（STS）。
我们报告了4例在局部晚期、不可切除阶段被诊断为STS的NF1患儿（3名女孩，1名男孩；年龄为8个月至14岁）。所有患者均接受了针对STS的方案：合作软组织肉瘤研究91、96和2002。1例肢体横纹肌肉瘤患者达到完全缓解，但出现晚期转移性复发，尽管进行了完整切除和自体骨髓移植，仍因病情进展死亡。另1例膀胱横纹肌肉瘤患者死于与中性粒细胞减少相关的败血症，未缓解。位于骨盆的恶性周围神经鞘瘤和恶性蝾螈瘤患者对治疗无反应。其中1例死于疾病进展，而另1例在进行致残性肿瘤切除术后6年无病生存。
尽管采用了联合治疗，NF1患者的STS预后似乎较差；因此，NF1患儿应在肿瘤学家的详细监测下。
