Urothelial carcinoma of the renal pelvis with rhabdoid features

Reported herein is the case of a 70-year-old man with high grade urothelial carcinoma (UC) with rhabdoid features of the renal pelvis. For the most part, the tumor was composed of pleomorphic, non-cohesive round tumor cells with abundant cytoplasm. In situ high-grade UC composed of cohesive tumor cells was seen only in a small portion. Pleomorphic dyscohesive tumor cells often showed rhabdoid features, containing eosinophilic inclusions. These pleomorphic/rhabdoid tumor cells were immunohistochemically positive for vimentin but negative for cytokeratins, CD45, CD20, CD79a, CD3, CD45RO, CD38, and CD138. Loss of heterozygosity (LOH) analysis demonstrated identical allelic losses as well as additional allelic losses for the dyscohesive and cohesive UC lesion, indicating that these two lesions originated from a single clonal lesion.     

Fine-needle aspiration biopsy diagnosis of extrarenal malignant rhabdoid tumor

Two cases of extrarenal malignant rhabdoid tumors are presented in which diagnosis was suggested by fine-needle aspiration biopsy and confirmed by histologic and electron microscopic examination. Fine-needle aspiration smears in both cases revealed round to polygonal cells with vesicular nuclei and prominent nucleoli. Several tumor cells contained cytoplasmic inclusions composed of intermediate filaments. A majority of the tumor cells stained strongly for vimentin and cytokeratin. Electron microscopic examination revealed many cells with large aggregates of intermediate filaments corresponding to the cytoplasmic inclusions. Fine-needle aspiration biopsy may be used for diagnosing malignant rhabdoid tumor. The diagnosis may be further confirmed by immunohistochemistry and electron microscopy. Diagn Cytopathol 1994;11:271–276. © 1994 Wiley-Liss, Inc.     

Anaplastic carcinoma of the pancreas with rhabdoid features

The malignant rhabdoid tumor (MRT) is histologically characterized by the invasive proliferation of polygonal to ovoid cells with abundant eosinophilic cytoplasm and eccentric vesicular nuclei with a prominent nucleolus. MRT frequently occurs in the kidney, but may also arise in other organs. However, MRT should be strictly distinguished from carcinomas with rhabdoid features. A post-mortem examination of a 68-year-old woman found an anaplastic carcinoma of the pancreas with rhabdoid features displaying extensive invasion into the neighboring tissues. To the best of our knowledge, this is the first case of a pancreatic tumor with rhabdoid features. Pathologists should consider that carcinomas showing rhabdoid features may also appear in the pancreas. As pancreatic tumors with rhabdoid features have characteristic histopathological features and poor prognosis compared to other pancreatic tumors, careful histopathological differential diagnosis is important.     

Anaplastic thyroid carcinoma with rhabdoid features

Anaplastic thyroid carcinoma (ATC) is a rare, highly aggressive neoplasm, characterized by complete or partial composition by undifferentiated cells. We report a case of ATC with rhabdoid features in a 68‐year‐old male, who presented with a rapidly enlarging neck mass. Fine‐needle aspiration (FNA) of the thyroid mass showed discohesive, pleomorphic round to polygonal rhabdoid cells with one to multiple eccentric, large, rounded nuclei with a prominent nucleolus, moderate to abundant, globoid cytoplasm which oftentimes harbor a pale para‐nuclear inclusion. The cytoplasm of some cells contained variously sized, eosinophilic granules. Rare cells contained neutrophils in their cytoplasm. Mitoses including atypical mitotic figures and necrosis were readily seen. Histologic examination of needle core biopsy (NCB) revealed individual dispersed and sheets of pleomorphic neoplastic cells with similar cytomorphologic features as described above. The tumor extensively infiltrated a myxocollagenous stroma containing lymphocytes and neutrophils, and demonstrated foci of necrosis. Tumor cells were immunoreactive for keratins AE1/AE3, CAM5.2, and CK19; PAX‐8, and p63, but negative for S‐100, HMB‐45, calcitonin, TTF‐1, thyroglobulin, CD56, HBME‐1, glypican‐3, PAX‐5, myogenin, CD31, and INI‐1. The differential diagnosis of this malignant rhabdoid tumor is discussed. Diagn. Cytopathol. 2015;43:416–420. © 2015 Wiley Periodicals, Inc.     

Renal cell carcinoma with rhabdoid features: an aggressive neoplasm

AIMS: Only a few reports on renal cell carcinoma with rhabdoid features have been published. This study was performed to investigate the clinicopathological characteristics of renal cell carcinomas with rhabdoid features. METHODS AND RESULTS: Among 253 cases of renal cell carcinoma in adults, eight cases with rhabdoid features were detected. Rhabdoid areas ranged from 10% to 90% of each of the cases. Seven of the eight cases were TNM stage III or IV, and four of the eight cases died within 8 months of surgery. Immunohistochemically, the rhabdoid areas were positive for CAM 5.2 (4/8), AE1/AE3 (6/8), epithelial membrane antigen (6/8) and vimentin (8/8), and negative for myogenetic markers (0/8). The mean MIB-1 labelling index in the rhabdoid areas was higher than that in the definite carcinomatous areas. Ultrastructurally, perinuclear whorls of intermediate filaments were demonstrated in three of the eight cases using paraffin-embedded blocks. CONCLUSIONS: The rhabdoid areas in renal cell carcinoma have histological, immunohistochemical and ultrastructural similarities to malignant rhabdoid tumours. Renal cell carcinoma with rhabdoid features is a highly aggressive neoplasm and its malignant behaviour may be due to the high cell-proliferative activity of the rhabdoid areas. Rhabdoid features in renal cell carcinoma may represent the endpoint of clonal evolution of renal cell carcinoma (especially in clear cell type cases).     

Sinonasal teratocarcinosarcoma with rhabdoid features

Sinonasal teratocarcinosarcoma (SNTCS) is a very rare tumor developed in the nasal cavity and paranasal sinuses. The rhabdoid phenotype represents an aggressive biological behavior, but the rhabdoid feature has hitherto not been reported in cases of SNTCS. A 46-year-old man complained of a 1-month history of left-sided nasal obstruction. Computed tomography scan and magnetic resonance imaging showed a tumor mass involving the left nasal cavity, ethmoid sinus, and ethmoid bone with extension to the left frontal lobe of the brain. A gross total resection of the mass was performed and postoperative radiation therapy administered. Seven weeks later, several recurring masses were detected in the left frontotemporal lobe of the brain. A gross total resection of the mass was performed and postoperative chemotherapy administered. Histopathologically, the tumor showed benign and malignant epithelial, mesenchymal, neural, and immature elements. In addition, diffuse sheets of rhabdoid cells were immunopositive for vimentin, nestin, neuron-specific enolase, and INI1. Ultrastructurally, rhabdoid cells showed paranuclear aggregates and whorls of intermediate filaments with a 9-10 nm diameter. In conclusion, we report first case of rhabdoid features in SNTCS. The present case showed an advanced stage and early recurrence; the rhabdoid component was probably responsible for this aggressive behavior.     

Lung carcinoma with rhabdoid cells: a clinicopathological study and survival analysis of 14 cases

AIMS: We determined the clinicopathological features of primary lung carcinomas with rhabdoid cells by defining the immunophenotype of rhabdoid cells and analysing survival. METHODS AND RESULTS: Rhabdoid cells are distinctive in having an eccentric nucleus and a large intracytoplasmic inclusion on routinely stained sections. Based on the number of rhabdoid cells, 45 cases of large cell carcinoma were divided into the following three types: lung tumour with a rhabdoid phenotype (LTRP) (n=4), lung carcinoma with a small number of rhabdoid cells (LCSR) (n=10), large cell carcinoma containing no rhabdoid cells (LCNR) (n=31). LTRP is composed of at least 10% rhabdoid cells. In LCSR the percentage of rhabdoid cells is less than 10%. LTRP and LCSR are associated with locally advanced disease. Immunohistochemical stains were positive for epithelial markers in all LTRP and eight LCSR, for neuroendocrine markers in one LTRP and three LCSR. The outcome is worse for patients with LTRP than LCSR or LCNR. LCSR shows a trend close to LCNR. Stage-matched survival analysis, however, revealed no statistically significant difference among the histological subtypes. CONCLUSIONS: Rhabdoid cells are heterogeneous except for epithelial markers and vimentin positivity. Less than 5% of rhabdoid cells has a negligible effect on prognosis.     

Poorly differentiated adenocarcinoma with extensive rhabdoid differentiation: Clinicopathological features of two cases arising in the gastrointestinal tract

This paper describes the pathological features of two cases of composite extra-renal rhabdoid tumor; that is, poorly differentiated carcinoma with extensive rhabdoid differentiation, arising in the small intestine of a 64-year-old man and in the pancreas of a 77-year-old woman. In both cases the tumor behaved aggressively and the patients died from disseminated malignancy within 3 months of original presentation and diagnosis. To the best of our knowledge these are the first examples of such tumors in the small intestine and pancreas.     

Astroblastoma with rhabdoid features and favorable long-term outcome: report of a case with a 12-year follow-up

Astroblastoma is a historically traded microscopic diagnosis to denote a rare neuroepithelial tumor of uncertain nosology, involving a distinctive pattern of pseudorosette arrangement of neoplastic cells. While displaying some glial properties, the latter shall not - by definition - be either reducible to or part of any conventional glioma type. We report on clinicopathologic correlations in a case of astroblastoma involving an extensive rhabdoid phenotype of tumor cells. The male patient was operated on at the age of 53 and 59 years for a left parietal tumor measuring 5.8 cm in diameter at the first presentation. On magnetic resonance imaging and angiography, both the primary and its recurrence were discrete, highly vascularized, and contrast-enhancing. The second surgery was complemented with radiotherapy of 66 Gy, followed by chemotherapy with Temozolomide. Twelve years into clinical history, the patient has stable minimal residual disease at the age of 65. A review of pathology samples from both surgeries showed well-differentiated astroblastoma according to current standards, with an MIB-1 labeling index of 1% and 4%, respectively. Neither of the specimens involved cellular anaplasia, overt mitotic activity, microvascular proliferation, or palisading necrosis. Most tumor cells harbored paranuclear filamentous rhabdoid inclusions that were immunostained for vimentin and, in part, also for GFAP. No polyantigenic reactivity was observed. This example contributes another facet to the spectrum of the so-called composite rhabdoid tumors. Involving a low-grade parent neoplasm, it also further substantiates the incipient perception that the rhabdoid phenotype neither is a peculiar but nonspecific convergence point of anaplastic evolution, nor are such lesions indiscriminately bound for a relentless course.     

SMARCB1/INI1 missense mutation in mucinous carcinoma with rhabdoid features

Malignant rhabdoid tumor (MRT) is a rare and aggressive tumor associated with deletion or mutation of a tumor suppressor gene SMARCB1/INI1, a member of the SWI/SNF chromatin-remodeling complex. Reported herein is a case of pancreatic mucinous carcinoma accompanying rhabdoid features with immunohistochemical and ultrastructural studies as well as analysis of the SMARCB1/INI1 gene. A 65-year-old woman presented with a 2 month history of abdominal and chest pain. A well-defined grayish tan fish-flesh mass (11 x 9 x 7 cm) with focal mucinous area was present in the pancreatic tail. Microscopically, the tumor had a biphasic growth pattern: a mucinous carcinoma component and a poorly differentiated carcinoma component with rhabdoid features showing loosely cohesive cells with abundant eosinophilic cytoplasm, displaced nuclei, and prominent nucleoli. The rhabdoid component coexpressed vimentin and cytokeratin. Sequencing analysis of the DNA extracted from the mucinous and rhabdoid components showed a missense mutation CCC to ACC in codon 116 of the SMARCB1/INI1 gene. Being aware of rhabdoid features would help diagnose this rare and aggressive malignant tumor and may provide an opportunity for further evaluation of SMARCB1/INI1 gene alteration and determination of its prognostic significance.     

A case of large cell neuroendocrine carcinoma exhibiting rhabdoid features in the esophagogastric junction

We report a case of large cell neuroendocrine carcinoma with rhabdoid features in the esophagogastric junction. An 81‐year‐old man presented to Saku Central Hospital Advanced Care Center with a tumor in the esophagogastric junction. During upper gastrointestinal endoscopy, an ulcerative tumor, measuring 4 × 3 cm in diameter, was observed. Computed tomography revealed lymph node metastasis, but no metastasis to other organs was observed. A thoracoscopic subtotal esophagectomy was performed. Histopathologically, anaplastic large cells exhibited a solid growth pattern with focal and geographic necrosis. Approximately half of the tumor cells exhibited large nuclei with conspicuous nucleoli; an eosinophilic “rhabdoid” cytoplasmic inclusion; and a nucleus displaced eccentrically by the cytoplasmic inclusion body. Immunohistochemically, tumor cells, including rhabdoid cells, were focally positive for pan‐cytokeratin and diffusely positive for vimentin and synaptophysin. Additionally, electron microscopy identified dense‐core granules in the tumor cells. Therefore, a diagnosis of large cell neuroendocrine carcinoma with rhabdoid features was made. A few cases of esophageal neuroendocrine tumors with rhabdoid features have been reported in the lung and pancreas; however, this is the first report of large cell neuroendocrine carcinoma with rhabdoid features in the esophagogastric junction.     

伴横纹肌样特征的肺癌1例报道及文献复习

目的报道1例伴横纹肌样特征的肺癌,并复习相关文献。方法石蜡包埋组织连续切片分别做HE染色、Alcianblue黏液组化染色和免疫组化染色,光镜观察。结果肿瘤突出于右上肺支气管腔,HE染色显示在差分化癌组织中可见横纹肌样特征的癌细胞,约占30%,其细胞质丰富,细胞质内可见明显的嗜酸性包涵体,细胞核偏位,可见核仁。癌组织黏液染色阴性。免疫组化染色显示,vimentin和p63呈弥漫性强阳性,CKpan、CAM5·2、TTF-1和synaptophysin呈灶性阳性,嗜酸性包涵体对CAM5·2呈阳性反应,CEA、chromograninA、SCLC、myoglobin及desmin阴性。结论伴横纹肌样特征的肺癌是原发性肺癌少见的特殊亚型,可存在于差分化非小细胞肺癌中,并可显示灶性神经内分泌分化。     

Esophageal carcinoma with a rhabdoid phenotype: a case report of diagnosis by endoscopic ultrasound-guided fine-needle aspiration

Malignant extra renal tumors with rhabdoid phenotype are aggressive neoplasms associated with a poor prognosis. These tumors have been reported in soft tissue and various organs including the gastrointestinal tract. We report one of such tumors arising in the esophagus and discuss the cytopathologic, immunohistochemical, and ultrastructural features. Endoscopic ultrasound-guided fine-needle aspiration (FNA) cytology revealed a highly cellular tumor, consisting of polygonal poorly cohesive cells with prominent eosinophilic paranuclear cytoplasmic inclusions. Immunohistochemical staining showed strong cytoplasmic positivity for vimentin and cytokeratin. Electron microscopy revealed presence of numerous intermediate filaments. To the best of our knowledge, this is the first example of carcinoma with rhabdoid phenotype of the esophagus diagnosed by FNA cytology.     

Endometrial stromal sarcoma of the uterus with rhabdoid features

A case of endometrial stromal sarcoma of the uterus with rhabdoid features, occurring in a 57 year old woman is reported. Electron microscopy and immunohistochemistry revealed that the rhabdoid cells contained intermediate filaments which were positive for vimentin, cytokeratin, alpha-smooth muscle actin, and muscle specific actin, but not for myoglobin and desmin. This indicated that the tumor in this case differed somewhat from the three rhabdoid tumors and an endometrial stromal sarcoma with rhabdoid differentiation previously reported and that, therefore, these tumors were heterogeneous.     

Large cell carcinoma of the lung with a rhabdoid phenotype

A variant of large cell carcinoma showing a rhabdoid phenotype, which is rare among primary lung cancers, is presented. A 59-year-old man was admitted to hospital for an operation. Computed tomography scans showed a mass with a smooth border, invading the thoracic wall. A right upper lobe lobectomy was carried out with resection of a part of the thoracic wall. Pathological examination showed that the tumor was mostly composed of cells with prominent eosinophilic cytoplasmic globules and giant cells, which did not adhere to each other. Cytologically, the tumor cells contained nuclei with a reticular chromatin pattern and one to two prominent nucleoli, and hyaline-like and reticular inclusion bodies, which were immunohistochemically positive for vimentin, but not for alpha-smooth muscle actin, myoglobin or pan-actin. Radiological and laboratory examinations did not detect the presence of the tumor in other organs, indicating that the primary lesion was not situated elsewhere. Metastasis to the right adrenal gland was observed 1 year and 4 months after the operation; however, the patient has been free of the disease 3 years and 11 months after the second operation of an adrenalectomy. This case showed a relatively good prognosis, which is rare among rhabdoid tumors of various organs that generally have poor prognoses with rapid, fatal progression.     

Undifferentiated carcinoma of the jejunum with extensive rhabdoid features . Case report and review of the literature

Malignant rhabdoid tumor, first described in the kidney of young infants, is a rare and highly aggressive neoplasm of controversial histogenesis that has been reported at many other sites, including the gastrointestinal tract. However, malignant rhabdoid tumor of the small intestine is very rare, with only seven cases published to date. We report a 70‐year‐old man who presented with abdominal pain and weight loss, and showed a perforated jejunal mass with disseminated metastases by imaging. The patient underwent partial jejunectomy and biopsy of a liver metastasis. Microscopically, the tumor was characterized by neoplastic cells with vesicular nuclei, large nucleoli and abundant eccentric cytoplasm with hyaline globular intracytoplasmic inclusions. Immunohistochemically, the neoplasm coexpressed vimentin and epithelial antigens (AE1/AE3, Cam 5.2, CK34βE12, CK19 and EMA), most of them showing a peculiar immunostaining pattern in relation to the globular inclusions. Ultrastructurally, the inclusions corresponded to paranuclear whorls of intermediate filaments. The patient received postoperative chemotherapy but died 9 months after surgery. In summary, we report the exceptional case of an undifferentiated carcinoma of the jejunum with rhabdoid phenotype. As with tumors at other sites, recognition of rhabdoid morphology in small intestine neoplasms is of significance because the prognosis is extremely poor.     

Early gastric stump carcinoma with rhabdoid features. Case report

Among 474 cases of gastric carcinoma studied in gastrectomy specimens from 1990 to 1996, only one (0.21%) showed positivity for vimentin. It was located on a gastric stump and, endoscopically, the tumor was classified as early gastric carcinoma type IIb + IIc. Histologically, tumor cells were extensively round to polygonal and had eosinophilic, or clear cytoplasm; the nuclei were large with conspicuous nucleoli. In some areas, the cytoplasm showed vimentin and(or cytokeratin coexpression by double immunostaining. Our results and the patient's rapid deterioration (death occurred six months after surgery) suggest that this type of tumor, although diagnosed as early carcinoma, behaved like an advanced malignancy.