h*****y
发帖数: 298 | 1 我家宝宝羊羊快到11个月了，却被诊断为ATRT，非典型畸胎样/横纹肌样瘤（ATRT），
全国
案例据说只有10多例，3岁以下宝宝是超级致命的，对普通的化疗不敏感。怎么办？？
？不
作为的话，没几个月命的。她最可爱的时候啊，我怎么能接受她的离去？？不能啊！！
国内成功案例，我还没了解到。我能问到的医生都说没办法。至少上海这边是这样的，还
有什么办法吗？？一般要手术后一个月内做治疗的，我们手术后第9天了。。。时间不
待人
啊！！
据我了解到的，美国St.Jude还不错，但他们需要主治医生亲自联系，而我们的主治医
生啥
都不管啊！！手术还是我们请北京专家过来做的。。。小羊羊还在儿童医学中心的PICU里
康复呢。。。我已经很无措了，希望各位能想想办法。。。
还有波士顿儿童医院，我看他们网站写了“pioneered the development of new
treatme
nts for specific highly malignant tumors such as ATRT ”，我怎么能让他们接受我
家小孩啊？？？我完全不知道怎么做才好啊！！！
据说还有加拿大多伦多医院，美国梅奥医院。。
手术前肿瘤大小：3.9x3.7x5.8cm，全切除，脑干边上 CPA
校友们，能帮忙扩散吗？帮忙寻求渠道让他们接受我们家羊羊吗？？？
我的微博：http://weibo.com/amandayj/profile?rightmod=1&wvr=5&mod=personinfo | r**********n
发帖数: 9 | 2 Sorry for the sad news about your lovely baby.
ATRT的预后非常差，是肯定的。
如果你想尝试St. Jude or Boston，您可以直接与他们联系。复制并翻译所有的医疗记
录。如果他们接受你的宝宝，通常你需要提前支付作为一个国际病人。St. Jude 是研
究医院，可能对美国人免费。不知对国际病人如何。
因为它是ATRT，你要想清楚你花代价是想要什么结果。
以下转自UpToDate:
Atypical teratoid/rhabdoid tumors — CNS atypical teratoid/rhabdoid tumors (
ATRTs) are highly malignant tumors primarily occurring in young children
less than three years old [91]. Histologically, ATRTs are characterized by
rhabdoid cells and are similar to that of other small round blue cell tumors
; up to 70 percent also contain fields typical of a primitive
neuroectodermal tumor (PNET/medulloblastoma). Necrosis and a high rate of
mitotic activity are common. Germ cell markers are negative. Over 90 percent
of tumors show loss of INI1 nuclear staining, indicative of biallelic
inactivation of SMARCB1 on chromosome 22, and approximately one third of
patients harbor germline mutations in SMARCB1 [92-94]. (See "Schwannomatosis
", section on 'Pathology and pathogenesis'.)
About two-thirds of ATRTs occur in the cerebellum, typically in the
cerebellopontine angle, with invasion of surrounding structures. About one-
fourth are supratentorial and 8 percent are multifocal [95]. Typically,
infants present with lethargy and vomiting; older children may have symptoms
due to involvement of cranial nerves IV, VI, or VII, such as head tilt,
diplopia, or facial weakness. Hemiplegia and/or headaches may also be
present [95-99].
Imaging often reveals cysts or hemorrhages. On T1-weighted MRI, the tumors
are hypointense, while T2-weighted images demonstrate iso- to hypointense
lesions. There is heterogeneous enhancement and leptomeningeal disease
presents on imaging as a nodular, clumpy enhancement along the meninges
along the cord and into the cauda equina. Imaging cannot reliably
differentiate ATRTs from PNET or medulloblastoma. (See "Clinical
presentation, diagnosis, and risk stratification of medulloblastoma",
section on 'Differential diagnosis'.)
The prognosis in most series is poor [100,101]. This was illustrated by a
series of 144 patients identified in the Surveillance, Epidemiology, and End
Results (SEER) database over a 35 year period [100]. The median survival
was 10 months, and approximately three-fourths of patients eventually
relapsed. Patients with familial mutations in SMARCB1 tend to be younger and
have worse survival compared to those with sporadic tumors [93]. Aggressive
chemotherapy and radiotherapy may be of some value [102-104]. | n********m
发帖数: 37 | 3 Sorry for the sad news
ATRT 没有有效的标准治疗. 美国每年也就30-50 例.病人多参加各种临床研究以搏得一
线希望. 因为是orphan disease, 未上市新药无利可图所以少有临床研究。 目前临床
研究多是放射治疗+已上市化疗药的不同组合, 所以药费治疗费用很少有减免, 都由保
险，Medicare ，或个人出. (未上市新药会免药费,补贴医疗).你可以在:
clinicaltrials.gov 上查,ATRT:
http://clinicaltrials.gov/ct2/results?term=atrt&Search=Search
近年来最有希望的一个临床研究由 dana farber/Boston children hospital 牵头。
将近两年的疗程, 每月4-5种化疗药组合,每次用药血項都会掉到零,住院,无菌病房。费
用和折磨都大到难以想像。 论文：
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2645855/pdf/8135.pd
Used Chemotherapy:
Vincristine IV (in a vein) over 1 minute.
Doxorubicin IV as an intermittent infusion or as a continuous infusion
over 72 hours.
Temozolomide Oral capsule daily
Cyclophosphamide IV as an intermittent or as a continuous infusion
Cisplatin IV as an 8 hour infusion.
Etoposide (VP-16) IV as a 1 hour infusion.
Dactinomycin IV over 1 minute.
Ara-C Intrathecally (into the spinal fluid) over 3 minutes.
Methotrexate Intrathecally (into the spinal fluid) over 3 minutes.
Hydrocortisone Intrathecally (into the spinal fluid) over 3 minutes.
大于三岁患者预后稍好,但智力低下,和继发脑瘤很常见. 小于3岁的只有10%以下的治愈
. 很多家长最终因无法再看孩子遭罪, 为他们的小天使选择了临终关怀/ 安慰疗法..
我不是教徒， 但我非常感动一些美国教徒父母在孩子生死关头的豁达和积极。他们尽
力而为去救治； 他们积极地去享受和孩子在一起的每一秒时光； 努力留在所有美好
的记忆。
但他们把自己小天使的命运/最终结果交给上帝去决定。他们坚信每一个早逝的孩子都
是上帝过于偏爱的天使， 被上帝过早地召唤回完美的天堂。 把孩子交还给天父， 他
们放心平静。他们 会以更感恩的心情去享受生命中的雨露阳光，爱亲人， 爱孩子。。
。。
生活迫使我们去经历的每件事， 我们都可以找到最积极的方式去面对。
请转达我们的最深的祝福给孩子的父母。 | n********m
发帖数: 37 | 4 dana farber paper Appendix: Treatment Schema of DFCI No. 02-294
Preirradiation Induction Therapy
Week 1: vincristine 2 mg/m2 intravenously (IV) on days 1, 8, and 15;
cisplatin 90 mg/m2/d IV on day 1; doxorubicin 30 mg/m2/d IV as continuous
infusion on days 2 and 3; cyclophosphamide 300 mg/m2/d IV as continuous
infusion on days 2, 3, and 4.
Week 4: vincristine 2 mg/m2 IV on days 1, 8, and 15; cisplatin 90 mg/m2/d IV
on day 1; doxorubicin 30 mg m2/d IV as continuous infusion on days 1 and 2;
etoposide 100 mg/m2/d IV on days 1, 2, and 3.
Chemoradiation Induction Therapy
Weeks 7 and 10: vincristine 2 mg/m2 IV on days 1, 8, and 15; cisplatin 90 mg
/m2/d IV on day 1; cyclophosphamide 600 mg/m2/d IV as continuous infusion on
day 2; etoposide 100 mg/m2/d IV on days 1, 2, and 3; radiation therapy.
Postradiation Induction Therapy
Week 13: vincristine 2 mg/m2 IV on day 1; doxorubicin 30 mg/m2/d IV as
continuous infusion on days 1 and 2; cyclophosphamide 300 mg/m2/d IV as
continuous infusion on days 1, 2, and 3.
Week 16: vincristine 2 mg/m2 IV on day 1; cyclophosphamide 300 mg/m2/d IV on
days 1, 2, and 3; dactinomycin 0.015 mg/kg/d intravenous push (IVP) on days
1 through 5.
Maintenance Therapy
Weeks 19 and 23: temozolomide 200 mg/m2/d orally for conformal radiation
therapy (150 mg/m2/d for craniospinal irradiation) on days 1 through 5;
dactinomycin 1.2 mg/kg/d IVP on day 1.
Weeks 27 and 33: vincristine 2 mg/m2 IV on day 1; doxorubicin 30 mg/m2/d IV
as continuous infusion on days 1 and 2; cyclophosphamide 300 mg/m2/d IV as
continuous infusion on days 1, 2, and 3.
Week 30, 36, and 42: vincristine 2 mg/m2 IV on days 1 and 5;
cyclophosphamide 300 mg/m2/d IV on days 1, 2, and 3; dactinomycin 0.015 mg/
kg/d IVP on days 1 through 5.
Week 39: vincristine 2 mg/m2 IV on day 1; doxorubicin 30 mg/m2/d IVP on days
1 and 2; cyclophosphamide 300 mg/m2/d IV on days 1, 2, and 3; dexrazoxane
300 mg/m2/d IV on days 1 and 2.
Continuation Therapy With Doxorubicin (patients who have received <18 Gy RT
to thoracic spine/mediastinum)
Weeks 45 and 51: vincristine 2 mg/m2 IV on day 1; doxorubicin 30 mg/m2/d IVP
on days 1 and 2; cyclophosphamide 300 mg/m2/d IV on days 1, 2, and 3;
dexrazoxane 300 mg/m2/d IV on days 1 and 2.
Week 48: vincristine 2 mg/m2 IV on days 1 and 5; cyclophosphamide 300 mg/m2/
d IV on days 1, 2, and 3; dactinomycin 0.015 mg/kg/d IVP on days 1 through 5.
Continuation Therapy Without Doxorubicin (patients who have received >18 Gy
RT to thoracic spine/mediastinum)
Weeks 44, 48, and 51: vincristine 2 mg/m2 IV on days 1 and 5;
cyclophosphamide 300 mg/m2/d IV on days 1, 2, and 3; dactinomycin 0.015 mg/
kg/d IVP on days 1 through 5.
Intrathecal Therapy
Methotrexate 15 mg/m2 (maximum 15 mg); hydrocortisone 30 mg/m2 (maximum 30
mg); cytarabine 60 mg/m2 (maximum 60 mg)—in preservative-free normal saline
via filter on day 1 of weeks 1, 2, 4, 7, 13, 19, 27, 33, 39, 45, and 51;
leucovorin 15 mg/m2 IV/orally × 1 dose 24 hours after methotrexate dose.
For patients with initially positive CSF cytology, weekly intrathecal
therapy is administered until two consecutive CSF cytology analyses are
negative for malignant cells. Once negative CSF cytology is achieved,
patients continue on with CNS intrathecal therapy as prescribed above.
Disease evaluations are performed before weeks 7, 19, 33, and 45 and at the
end of therapy. | x****n
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