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- 请高手指点!
| 姓 名： | ××× | 性别： | 男 | 年龄： | 23 |
| 标本名称： | 在我院行髋部溶骨性病变和局部淋巴结病灶活检. 免疫组化D68+++,CK(-),EMA(-),S100(-). | ||||
| 简要病史： | 战士,半年前在其它城市脑部手术,术后诊断脑胶质瘤,现多处骨有溶骨性病灶,肺有阴影 | ||||
| 初步诊断意见： | 根据切片和免疫组化我们想诊断非朗格罕组织细胞增生症.缺少经验,请高手指导 | ||||
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本帖最后由 于 2007-03-15 07:58:00 编辑
- 没有完美的个人，只有完美的团队
×参考诊断
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本帖最后由 于 2007-03-03 20:57:00 编辑
Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis first described by Jakob Erdheim and William Chester in 1930. They described two patients who had a distinctive lipidosis with associated bone changes. In 1972, Jaffe reported a third patient and coined the term "Erdheim-Chester disease". Jaffe described the disease as a rare histiocytic disorder of adults characterized by an infiltrate of lipid-laden macrophages, multinucleated giant cells, inflammatory infiltrate of lymphocytes and histiocytes in the bone marrow and a generalized sclerosis of the long bones sparing the epiphysis. Approximately 80 cases have been reported in the literature. （ECD是一种罕见的非朗格罕组织细胞增生症，1930由Jakob Erdheim和William Chester首先描述。他们描述的2例，患者有特殊的与骨病变有关的脂质沉积病。1972年，Jaffe报道了第三例，并创造了一个新的诊断名词“Erdheim-Chester disease”。 Jaffe将此病描述为一种罕见的发生于成人的组织细胞病变，特征是充满脂质的巨噬细胞、多核巨细胞、淋巴细胞和组织细胞浸润骨髓，以及全身长骨骨皮质硬化。文献已报道约80例。abin译）
患者半年前在某医院脑瘤手术,术后诊断为脑胶质瘤,现全身多处骨溶骨性病灶,股骨颈病理性骨折,我们取的活检就在该部位.肺部有阴影,但是该战士现全身状况比较好，患者因骨折取活检,镜下见明显的噬脂性的组织细胞浸蚀横纹肌(前3张图),浸润淋巴结的窦(后三张),第4第5张为浸蚀髋骨.做免疫组化瘤细胞表达CD68+++,CK(-),EMA(-),S100(-).我们怀疑本例为Erdheim-Chester disease非朗格罕细胞组织细胞增生症.因没有见过,想请高手指点.
请高手指点，谢谢小荷传图．
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从免疫组化结果来看，淋巴结内富于脂质的组织细胞不是朗格罕组织细胞，诊断非朗格罕组织细胞增生症感觉没有问题。Erdheim-Chester disease 也属于非朗格罕组织细胞增生症的一种，多有下肢干骺端的对称性硬化性骨病变，也可有溶骨性病变，并且常常有骨外多部位的累及，组织学上表现为富于脂质的组织细胞浸润。本科曾诊断过一例，此病预后不好。综合考虑，感觉诊断ECD还是成立的。图片比较小，意见不成熟，供岳主任参考。
- the more we discuss, the more we learn from each other !!
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本帖最后由 于 2007-02-20 12:24:00 编辑
没有见过 Erdheim-Chester disease。上网看了看：
1、Erdheim-Chester disease mimicking a primary brain tumor. Case report.
Rushing EJ, Bouffard JP, Neal CJ, Koeller K, Martin J, Ozdemirli M, Mena H, Ecklund JM.
Department of Neuropathology, Armed Forces Institute of Pathology, Washington, DC 20306-6000, USA. rushinge@afip.osd.mil
J Neurosurg. 2004 Jun;100(6):1115-8
Erdheim-Chester disease (ECD) is a rare systemic histiocytic disease. The authors present a case report detailing the presentation and treatment of a 26-year-old man diagnosed with seizures and a well-circumscribed temporoparietal mass that had been demonstrated on imaging studies. Both preoperative and intraoperative diagnoses were consistent with a low-grade astrocytic neoplasm. Subsequent pathological examination indicated a histiocytic proliferation positive for CD68 and factor VIII, and negative for CD1a and S100, with Touton giant cells characteristic of ECD. This case represents the first isolated occurrence of intracranial ECD and its potential to mimic glial neoplasms.（ECD是一种罕见的全身性组织细胞疾病。作者报道一例26岁癫痫患者的临床病理表现和治疗，影像学诊断为颞顶部界清肿块。术前和术中诊断为低级别星形细胞瘤。其后的病理检查表现出ECD特征性的组织细胞增生：CD68和VIII因子阳性，CD1a和S100阴性，伴Touton巨细胞。这是第一例颅内单独发生的ECD，并可能假冒神经胶质肿瘤。abin译）
与这例是否有相似性?
2、Clonal Cytogenetic Abnormalities in Erdheim-Chester Disease.
Vencio EF, Jenkins RB, Schiller JL, Huynh TV, Wenger DD, Inwards CY, Oliveira AM.
*Division of Anatomic Pathology daggerSection of Cytogenetics double daggerDepartment of Radiology, Mayo Clinic, Rochester, MN.
Am J Surg Pathol. 2007 Feb;31(2):319-321.
Erdheim-Chester disease (ECD) is a rare histiocytic disorder of unknown etiology that involves predominantly bone and viscera. Whether ECD represents a reactive or neoplastic process has been debated since its initial desc ription. Herein, we report for the first time the cytogenetic findings of a case of ECD diagnosed at Mayo Clinic Rochester. The tumor occurred in the right tibia of a 35-year-old man and showed the balanced chromosomal translocation t(12;15;20)(q11;q24;p13.3), among other numeric chromosomal abnormalities. The lesion was positive for CD68 and negative for CD1a and S100. These findings support the idea that some cases of ECD are clonal neoplastic disorders of putative histiocytic differentiation. However, additional studies are warranted to confirm whether the chromosomal abnormalities found in this case represent recurrent cytogenetic events.（ECD是一种罕见的病因不明的组织细胞疾病，主要累及骨和内脏。自从ECD最初被描述，就一直争论它是反应性还是肿瘤性病变。因此，我们首次报道了一例ECD的细胞遗传学发现。35岁男性，肿块发生于右胫骨，CD68阳性，CD1a和S100阴性。在其他大量的染色体异常中，显示平衡的染色体易位t(12;15;20)(q11;q24;p13.3)。这些发现支持这一设想，即某些ECD病例为假定组织细胞分化的克隆性肿瘤性病变。然而，需要进一步研究，以确定本例发现的染色体异常是否代表复发性细胞遗传学事件。abin译）
能不能找到某个单位做基因异位分析？
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本帖最后由 于 2007-02-20 12:40:00 编辑
Neurologic presentation of Erdheim-Chester disease.
Brodkin CL, Wszolek ZK.
Department of Neurology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, USA.
Neurol Neurochir Pol. 2006 Sep-Oct;40(5):397-403
Erdheim-Chester disease is a rare, systemic histiocytosis that involves multiple organ systems and causes symmetric sclerosis of the metaphysis and diaphysis of the long bones. We present 2 cases and reviewed 108 patients reported in the literature who had neurologic manifestations of Erdheim-Chester disease. After eye involvement or diabetes insipidus, cerebellar symptoms were most frequently encountered, followed by tumor, headaches, cord compression, mental status change, seizures, and change in libido. A wide range of neurological symptoms can be seen in ECD. Therefore we hope the review brings more awareness about this disorder. （ECD是一种罕见的全身性组织细胞疾病，累及多个器官系统，并导致长骨干骺端和骨干对称性硬化。我们报道2例，并回顾文献中108例有神经学表现的ECD。按出现频率，这些神经学表现包括：眼受累、尿崩、小脑症状、肿瘤、头痛、脊髓压迫、精神改变、癫痫和性欲改变。ECD可见广泛的神经学症状。因此我们希望本回顾能增加此病的认识。abin译）
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本帖最后由 于 2007-02-20 12:47:00 编辑
From your photos this case certainly has history and bone histopathology consistent with a rare case of Erdheim-Chester disease. As arhus suggested above, it would be interesting to review his "brain tumor" removed 6 months ago at another hospital. As for cytogenetic analysis, I am not sure the abnormalities reported by Mayo Clinic are consistently seen in all ECD cases.（从图像看，本例的病史和骨病理改变均与罕见的ECD一致。正如arhus上述，复习6月前另一医院“脑肿瘤”会很有意义。至于细胞遗传学分析，我不能肯定上述报道的异常会见于所有ECD病例。abin译）
聞道有先後,術業有專攻
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本帖最后由 于 2007-02-20 01:00:00 编辑
Photos of the skeletal muscle and hip bone are very pale and nonspecific. I do not see lipidized foam cells. The lymph node does contain lipidized foam cells in sinuses consistent with that seen in Erdheim-Chester disease. The brain biopsy is very cellular and cells are atypical. They are consistent with a glioma. Possibilities include oligodendroglioma and astrocytoma of unclear grade. They are not consistent with Erdheim-Chester disease. Are there any mitotic figures, necrosis or vascular/endothelial proliferation in the brain biopsy? I couldn't tell for sure from the two photos.（骨骼肌和髋骨的图像染色淡，没有特异性。未见脂化的泡沫细胞。淋巴结的窦内，确实含有脂化的泡沫细胞，这与ECD一致。脑活检细胞很丰富，有不典型性，与神经胶质瘤一致，可能是：少突神经胶质(细胞)瘤、星形细胞瘤，级别不明。这与ECD不一致。脑活检是否存在任何核分裂、坏死或血管/内皮增生？仅从这两张图像不能明确。abin译）
聞道有先後,術業有專攻
脑部病变为胶质瘤没有问题，肌肉和骨头细胞比较稀疏，的确如马教授所说，未见典型的泡沫状组织细胞，不过对于一些硬化性骨病变来说，细胞有疏有密，在活检标本上也不一定都能找到泡沫状组织细胞，有些组织细胞可以胞浆嗜酸。不过从第二次传的肌肉照片来看，免疫组化显示的CD68阳性细胞好像也不是很多。
ECD属于非朗罕组织细胞增生症，由于缺少认识，可能多数被诊断为黄色肉芽肿或仅仅做描述性诊断。此例有支持的地方，如多处骨病变，肺、肌肉、淋巴结累及，淋巴结内明显的CD68阳性组织细胞增生等；但也有不太像的地方，如无典型的对称性长骨干骺端硬化、骨及肌肉内细胞稀疏、组织细胞少以及缺乏典型的泡沫状组织细胞、Tuton巨细胞等。因此，从后面所传图片来看，此例可能做描述性诊断比较合适。
- the more we discuss, the more we learn from each other !!
| 以下是引用梅兰 在2007-3-4 0:25:00的发言：
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