成人肾恶性横纹肌样瘤6例分析

目的:探讨成人恶性肾横纹肌样瘤的临床表现、病理特点和诊治方法。方法:对6例成人恶性肾横纹肌样瘤进行临床分析及文献复习,从临床表现、病理特点和诊治方法等方面进行总结。临床表现为腰痛2例,无痛全程肉眼血尿2例,查体发现2例;B超、CT及IVU等影像学检查均提示肾脏占位性病变,直径2.8～20.4cm。CT发现肿瘤内有坏死液化及不均匀强化影像。4例经腰行根治性肾切除术,1例经腹行左肾根治性切除术,1例经胸腹联合行左肾根治性切除术。结果:6例术后病理报告均为肾恶性横纹肌样瘤,其中1例并发透明细胞癌。术后均给予生物免疫治疗。1例术后2个月发现肺转移,1年后死于肿瘤肺转移;1例术后出现肺部感染,1年后死于心肺功能衰竭;3例术后半年无瘤生存,现在随访中;1例失访。结论:成人肾恶性横纹肌样瘤罕见,临床表现无特征性,CT表现为肿瘤内部坏死液化,轻度强化而且强化不均匀,最终确诊依赖于病理组织学、免疫组织化学和电镜检查结果。治疗方法包括开放手术或腹腔镜手术,并且辅助术后化疗或生物免疫治疗。     

Analysis of chromosome 22q as an aid to the diagnosis of rhabdoid tumor: a case report.

Malignant rhabdoid tumor is a highly aggressive tumor of childhood that may present as a soft-tissue primary tumor. We report a soft-tissue neoplasm that was polyphenotypic by immunohistochemical expression of epithelial, mesenchymal, and neural markers and did not meet the criteria for any of the usual pediatric small round-cell tumors. The findings raised the diagnosis of rhabdoid tumor, leading to testing for WT1 mRNA and protein expression, which were positive, as has been reported for renal rhabdoid tumor. This tumor had the typical clinical behavior of rhabdoid tumor with therapy resistance and early tumor-related death. Multicolor spectral karyotyping of this neoplasm showed a balanced translocation between chromosomes 1 and 22 with breakpoints at 1p36 and 22q11-12. The latter region is commonly involved in rhabdoid tumor. This change was also identified by fluorescence in situ hybridization. This case suggests that studies of chromosome 22 may be required to distinguish rhabdoid tumor from other soft-tissue tumors.     

Congenital disseminated malignant rhabdoid tumor and cerebellar tumor mimicking medulloblastoma in monozygotic twins: pathologic and molecular diagnosis.

Malignant rhabdoid tumors are highly aggressive childhood tumors. Recently, all of the malignant rhabdoid tumors, whatever their location, have been related to the inactivation of the hSNF5/INI1 gene. A subset of cerebral tumors, associated with malignant rhabdoid tumors or isolated ones arising in siblings, showed similar molecular alterations. We report for the first time in monozygotic twins a congenital disseminated malignant rhabdoid tumor in one twin and a cerebellar tumor mimicking a medulloblastoma in the other. Molecular analysis revealed similar alterations for both tumors: a deletion of exon 7 of the hSNF5/INI1 gene in one allele, and a point mutation in the same exon in the other, suggesting a common genetic pathway. Analysis of constitutional DNA revealed a germline mutation. These findings are in favor of a common etiology for rhabdoid tumor and a subset of brain tumors developing in infancy.     

Malignant rhabdoid meningioma arising in the setting of preexisting ganglioglioma: a diagnosis supported by fluorescence in situ hybridization. Case report

A highly malignant brain neoplasm with rhabdoid morphological features emerged in the bed of a subtotally resected ganglioglioma in a 54-year-old retired nuclear submarine officer. A combined application of neuroimaging, immunohistochemical studies, electron microscopy, and fluorescence in situ hybridization (FISH) was used to establish the morphological identity of the tumor. The rhabdoid appearance of the tumor cells indicated either an especially malignant variant of rhabdoid meningioma or an atypical teratoid/rhabdoid tumor with an unusually late onset. Whereas immunohistochemical studies and electron microscopy could only be used to narrow down the differential diagnosis, FISH revealed loss of one copy of NF2 with preservation of the INI1 region on 22q, thus establishing the identity of the tumor.     

Malignant brain tumor with rhabdoid features in an adult

Rhabdoid tumor (RT) of the central nervous system is an uncommon and aggressive neoplasm that usually affects pediatric patients. Currently, these tumors are classified as malignant RT or atypical teratoid/RT. Another entity of intraparenchymal brain tumor with a rhabdoid component is the extremely rare rhabdoid glioblastoma. A 23-year-old woman presented with a malignant RT in the right thalamus. The tumor was adjacent to the right lateral ventricle and was partially resected. Histological examination revealed prominent proliferation of rhabdoid cells, which is consistent with a diagnosis of malignant RT; the typical features of glioblastoma were not observed. The tumor cells stained positively for integrase interactor-1 and glial fibrillary acidic protein. Therefore, the tumor may have originated from glial components. Genetic analysis using comparative genomic hybridization showed a deoxyribonucleic acid copy-number gain on chromosome 7 but not on chromosome 22. The tumor did not respond to chemotherapy or radiotherapy, and the patient survived for only 4 months after surgery. The present case of malignant RTs shows certain similarities with those of rhabdoid glioblastoma. Further accumulation and analysis of data, including data from genetic analyses, may lead to the identification of a new type of malignant RT.     

Renal neoplasms mimicking rhabdoid tumor of kidney. A report from the National Wilms' Tumor Study Pathology Center.

Fifty-six renal neoplasms reviewed by the National Wilms' Tumor Study Pathology Center presented with histologic features that resulted in confusion with rhabdoid tumor of kidney, a usually lethal childhood renal tumor; all were eventually diagnosed as other entities. Conspicuous filamentous cytoplasmic inclusions or large nucleoli, typical findings in rhabdoid renal tumors, were the usual source of diagnostic difficulty. Most, but not all, tumors occurred in pediatric patients. Sixteen were examples of Favorable Histology Wilms' tumor, which invited confusion with rhabdoid tumors either on the basis of filamentous cytoplasmic inclusions (15 cases) or macronucleoli (one case). In most cases, foci of typical Wilms' tumor blastemal aggregation or evidence of definitive nephrogenic differentiation facilitated the correct diagnosis. All 10 patients for whom information about outcome was available were alive at last follow-up. The other 40 renal lesions mimicking rhabdoid tumor of kidney consisted of a clinically and histogenetically diverse group of neoplasms, including anaplastic Wilms' tumor, congenital mesoblastic nephroma, renal cell carcinoma, transitional cell carcinoma, collecting-duct carcinoma, oncocytoma, rhabdomyosarcoma, malignant neuroepithelial tumors, and lymphoma. Most of these lesions could be separated from renal rhabdoid tumors and correctly classified on the basis of careful attention to light microscopic details, but in several cases electron microscopy or immunocytochemical studies were helpful or essential.     

Myoid differentiation in mesoblastic nephroma: clinicopathologic and cytogenetic findings of a rare case

The authors report the case of a benign renal mesenchymal tumor in a baby boy detected by ultrasound scanning during prenatal diagnosis. Histologically, the tumor was diagnosed as a congenital mesoblastic nephroma (CMN) with myoid differentiation. The tumor normally is characterized by a fascicular proliferation of bland, spindle-shaped cells. CMN is the most common renal tumor in the neonatal period and presumedly results from a neoplastic transformation affecting the pluripotent mesodermal nephric blastema. In embryonic life, tumorigenic influences acting on the nephric blastema might result in selective overgrowth of its mesoblastic derivates. CMN must be differentiated from other spindle-shaped tumors, like Wilms' tumor, rhabdoid tumor of the kidney, clear cell sarcoma, nephrogenic adenofibroma, fibroma and fibrosarcoma, leiomyoma, metanephric stromal tumor, and, in this case especially, from tumors with myoid differentiation like infantile myofibromatosis. Numerical molecular abnormalities are observed frequently in renal mesenchymal tumors, especially in chromosome 11. Cytogenetic findings in our tumor after comparative genomic hybridization (CGH) showed full trisomies of chromosomes 20 and 22q, partial trisomies for the distal part of 11q and 1p, and an approximately full monosomy of chromosome 4 (4qter-4p15). The chromosomal imbalances of the tumor can be described as: rev ish enh(1p31pter,11q23qter,20,22), dim(4)(p15qter). J Pediatr Surg 37:E22.     

Wilms' tumor in the neonate: a report from the National Wilms' Tumor Study

Renal neoplasms in the neonate are quite uncommon. Twenty-seven of the 3,340 patients (0.8%) registered on the National Wilms' Tumor Studies from 1969 through April 1984, were 30 days old or less. Of these 27 patients, 18 had mesoblastic nephroma, 1 had a malignant rhabdoid tumor of the kidney, and 4 others had nonneoplastic lesions. The remaining four infants were reviewed in detail. All had favorable histology Wilms' tumors; none had distant metastasis at diagnosis. Treatment ranged from surgery alone to excision plus three-drug therapy for 15 months. All fared well. The patient with Stage I rhabdoid tumor died at eight weeks of age in spite of aggressive four-drug therapy. This review supports the view that Wilms' tumor in the neonate is extremely rare.     

Successful treatment of a skull base malignant rhabdoid tumor with surgery, chemotherapy and gamma Knife-based stereotactic radiosurgery in a young child

Most childhood rhabdoid tumors occur in the kidney or central nervous system but they can occur in other sites and they usually run an aggressive clinical course. We report a case of an 8-month-old boy with a right temporal bone rhabdoid tumor treated with surgery, chemotherapy and Gamma Knife-based stereotactic radiosurgery. The patient remained alive after 61 months and repeat magnetic resonance imaging (MRI) of the brain showed no evidence of recurrence. There were no obvious endocrine deficits or growth abnormalities at last follow-up. Gamma Knife-based stereotactic radiosurgery may have a role in the management of very young children with skull base tumors.     

Genetic markers in thyroid tumors.

Tissue from nine patients with malignant tumors and two with benign tumors was cultured briefly before cytogenetic analysis. The tumors included one goiter and one Hürthle cell adenoma, one lymphoma, one medullary carcinoma, two Hürthle cell cancers, and five papillary cancers, varying widely in clinical staging and histologic differentiation. When assessed, DNA content was aneuploid in two of six malignant tumors. Various culture conditions (oxygen levels, dissociation methods, and media) were evaluated; the end points were growth, cell differentiation, and time to first harvest. Clonal aberrations were detected in one of four successfully harvested papillary cancers: they consisted of trisomy 7 and a rearrangement of chromosome 10. The rea (10) seen in 22 of 27 cells involved bands q11-21. Two other papillary tumors and a medullary cancer (a family member with multiple endocrine neoplasia type IIA) showed tetraploidy and nonclonal numerically aberrant cells. A lymphoma and two benign lesions showed no cytogenetic abnormality. The tumor with rea (10) is of special interest because abnormalities of 10q have been reported repeatedly in thyroid tumors, including two cases of papillary thyroid tumors with a structural aberration similar to that of the presented case. This rearrangement could affect the ret-proto-oncogene, localized to 10q11.2 which is activated in some papillary thyroid carcinomas.     

定制型人工关节置换治疗成人股骨远端肿瘤

目的评价定制型人工关节在股骨远端肿瘤保肢术中的作用。方法回顾分析我院接受定制型人工关节置换进行保肢治疗的股骨远端肿瘤患者38例，其中良性肿瘤9例，分别是骨巨细胞瘤7例（复发性骨巨细胞瘤5例，骨折2例），骨巨细胞瘤合并动脉瘤样骨囊肿1例，骨母细胞瘤1例；恶性肿瘤29例，分别是成骨性骨肉瘤16例，转移性肿瘤6例（骨折2例），软骨肉瘤2例，恶性纤维组织细胞瘤3例（骨折1例），纤维肉瘤1例，局灶性骨髓瘤1例。所有患者均使用国产定制型人工膝关节，铰链式17例，后稳定型21例。结果9例良性肿瘤患者1例失访，1例死于其他不相关疾病，其余7例病人随访时膝关节功能按Enneking制定的标准进行评定，优5例，良1例，差1例，保肢成功率为100％；29例恶性骨肿瘤患者，骨肉瘤患者失访7例，2例患者术后局部复发，行截肢术；其余20例患者生存期间膝关节功能优10例，良4例，差6例。7例效果评价差的病人为有6例为铰链式膝关节假体。结论定制型人工膝关节置换是一种较好的股骨远端肿瘤保肢方法。     

Immunohistochemical analysis of hSNF5/INI1 in pediatric CNS neoplasms

Atypical teratoid/rhabdoid tumor (AT/RT) may be misdiagnosed as primitive neuroectodermal tumor/medulloblastoma (PNET) and occasionally as other tumors. Molecular genetic analysis of AT/RT demonstrates deletion and mutation of the hSNF5/INI1 gene in most cases, with decreased or absent expression at the RNA or protein level. Immunohistochemistry with an antibody to INI1 was performed to determine whether this would be a sensitive and specific means of assessing INI1 loss in pediatric brain tumors. Fifty-three tumors consisting of 20 AT/RTs, 10 PNETs, and 23 other central nervous system tumors were examined. No nuclear staining was found in all 20 AT/RTs. Most other central nervous system tumors demonstrated nuclear staining. Eight cases in which classification as AT/RT or PNET was difficult were also examined. Seven cases had no chromosome 22 deletion or INI1 mutation; INI1 antibody showed nuclear staining in these cases. One case was a recurrent tumor with features consistent with an AT/RT. INI1 immunostaining was negative in this case, and a mutation in INI1 was subsequently identified. Immunohistochemical staining with an INI1 antibody correlates with molecular findings in AT/RT and may be useful in confirming the histologic diagnosis. INI1 immunostaining may have particular utility in the analysis of tumors with indeterminate histologic features or atypical immunophenotypic profiles.     

Renal tumors and tumor-like lesions in pediatric patients

Renal enlargement presenting as an abdominal mass(es) is attended by a lengthly differential diagnosis of non-neoplastic and neoplastic lesions with a range in serious connotations and consequences. Simple compensatory hypertrophy and unilateral multicystic dysplasia are relatively innocuous and easily recognized with appropriate imaging studies; they are also related in the sense that the normal contralateral kidney hypertrophies in the absence of a non-functioning dysplastic kidney. Bilateral nephromegaly in a neonate is generally a sign of autosomal recessive polycystic kidney disease or multicystic dysplasia secondary to distal obstructive uropathy. Primary neoplasms of kidney in the pediatric population in the past were traditionally classified as Wilms' tumors, but that erroneous practice has been eliminated with the recognition of several distinctive neoplasms in addition to classic Wilms' tumor. Separating a typical Wilms' tumor from mesoblastic nephroma, clear cell sarcoma of the kidney and the malignant rhabdoid tumor, for treatment and prognostic purposes, has become the accepted norm in the past 12–13 years. Another important advance at the cellular level is the recognition of a deletion in the short arm of chromosome 11 in the cultured cells of Wilms' tumor and in the germ cell line in certain clinical settings of Wilms' tumors. A dramatic expansion in the understanding and management of childhood renal neoplasms has occurred through the multimodality approach of laboratory investigation and applied clinical research.     

Atypical teratoid/rhabdoid tumor arising in a ganglioglioma: genetic characterization

Atypical teratoid/rhabdoid tumor (AT/RT) is an uncommon, aggressive, embryonal pediatric brain tumor that almost always develops de novo and does not arise within, or evolve from, other brain tumor types. Although rhabdoid morphology can be seen in other tumor types, these are phenotypic mimics and, with only rare exceptions, do not manifest the INI-1 deletion at the 22q11.2 locus or the INI-1 nuclear protein loss that characterizes AT/RT. A few reports of AT/RT evolving from a low-grade ganglioglioma (GG) or pleomorphic xanthoastrocytoma have appeared. We present the case of a 6-year-old boy with a large right parietal mass whose tumor at initial presentation manifested 2 distinct components: GG with neoplastic neurons, low MIB-1 rate, and retention of INI-1 nuclear immunostaining (immunohistochemical) and, second, AT/RT with rhabdoid cells, polyphenotypic immunohistochemical expression, high MIB-1 rate, and loss of INI-1 nuclear expression. The 2 areas were separately assessed by fluorescence in situ hybridization for monosomy 22; monosomy 22 was identified in the AT/RT component but not in the GG areas. BRAF V600E mutation, a genetic abnormality seen in a significant percentage of pleomorphic xanthoastrocytomas and GGs, was assessed by polymerase chain reaction and identified in the tumor. Dual abnormalities of INI-1 loss and V600E BRAF mutation were identified in a cell culture line established from cerebrospinal fluid metastatic tumor cells. This cell line exhibited extremely rapid growth rate and rhabdoid morphology. Results suggest a postclonal modification in a subset of GG cells, with acquisition of INI-1 loss, confirming by biological methods what was previously suspected in rare reports of AT/RT evolving from other tumor types.     

Clear cell sarcoma of soft parts: report of a case primary in the kidney with cytogenetic confirmation.

Clear cell sarcoma of soft parts (CCSSP), also known as malignant melanoma of soft parts, is an aggressive tumor that usually presents in soft tissue and very rarely in small bowel. We report a case arising in the kidney of a 20-year-old man which was difficult to distinguish from Wilms' tumor. The tumor metastasized to the liver and lungs, and the patient died of disseminated disease 5 years after his initial presentation. Both the primary and metastatic tumors were composed predominantly of spindle cells with occasional more epithelioid areas that were inconsistently arranged in nests. In both primary and metastatic sites, the tumor surrounded and entrapped normal epithelial elements, mimicking the biphasic appearance of Wilms' tumor. The tumor cells, however, were positive for S-100 protein and HMB45 and negative for keratin and CD99, and cytogenetic analysis revealed a clonal abnormality, translocation t(12;22)(q13;q12), characteristic of CCSSP. This result was verified by fluorescence in situ hybridization on paraffin-embedded tissue, which demonstrated EWS gene-region rearrangement. CCSSP joins a growing list of tumors that typically arise in soft tissue (PNET, solitary fibrous tumor, and infantile/congenital fibrosarcoma), but can also present in the kidney and may be confused with primary renal tumors. Awareness of this possibility and the use of ancillary studies. including immunohistochemistry, cytogenetic analysis, and fluorescence in situ hybridization, are important for accurate diagnosis.     

Tubulocystic carcinoma of the kidney: clinicopathologic and molecular characterization

The nature of tubulocystic carcinoma, a rare renal tumor composed of tubular and cystic structures, is poorly understood. It has been suggested that it may represent a low-grade collecting duct carcinoma of the kidney despite the lack of sufficient molecular and pathologic evidence. The aim of this study was to examine the clinical and pathologic features of 13 cases of tubulocystic carcinoma of the kidney. Furthermore, using gene expression microarray analysis, we defined the molecular signature of this tumor by comparing it with other renal tumors in our previously established molecular profile database. Histologically, all 13 tumors were composed of closely packed tubules and cysts of varying sizes separated by fibrovascular septa. The epithelial lining cells of the tubules and cysts in this tumor were characterized by abundant eosinophilic cytoplasm with prominent nucleoli often showing a hobnail appearance. Clinically, one of the 13 cases showed metastasis to the pelvic lymph nodes. Five of the 13 cases coexisted with papillary renal cell carcinoma (RCC) (n=3) or papillary adenoma (n=2). In addition, the molecular profile of tubulocystic carcinoma was similar but not identical to those of papillary RCC by clustering analysis. Through comparative genomic microarray analysis, tubulocystic carcinoma showed gains of chromosome 17, but not chromosome 7, whereas most papillary RCCs showed chromosomal gains in both 7 and 17 (trisomies). Therefore, based on its unique pathologic features and molecular signature as well as its biologic behavior to develop metastasis either by itself or in association with papillary RCC, tubulocystic carcinoma of the kidney should be recognized as a distinct subtype of RCC and be distinguished from other malignant and benign cystic lesions of the kidney.     

Brain tumors in infants and children--factors affecting prognosis, (Part-3). Mode of metastasis and prognosis in medulloblastoma

Brain tumors in infants and children are different from those in adults in type and location of tumor as well as accompanying complication. Given this fact, and the fact that these patients are under development, careful consideration is required for determination of treatment planning. Thus, we have investigated the curative results of brain tumors in infants and children and factors effecting prognosis. In this study, medulloblastoma which is one of the most malignant pediatric brain tumors was analyzed in 64 cases in light of mode of metastasis and prognosis. Among those cases, there were 23 cases which were diagnosed to have metastasis or infiltration of tumor from the original site of the fourth ventricle. As mode of the cerebrospinal fluid circulation, 6 intracerebral solitary metastasis, 1 entraspinal cord metastasis, 1 intraperitoneal metastasis via shunt and 7 generalized metastases involving bone in 5, lymphnodes in 2 and liver, spleen, kidney, lung and peintoneal cavity in 1 respectively. The survival rate in those 23 cases with tumor metastasis or infiltration was 63.6% in one year, 28.6% in two years and 11.8% in five years and the average survival year was 8.1 months in cases who died of these tumor metastasis. Six of them had tumor metastasis with in 6 months after the initial treatment(s).There was no significant correlations in rate or occurrence of tumor metastasis between group of total resection and of partial resection nor group of whole neuro-axis radiation and of local radiation.(ABSTRACT TRUNCATED AT 250 WORDS)