Intra-abdominal desmoplastic small round cell tumor

BACKGROUND: Intra-abdominal desmoplastic small round cell tumor is a rare malignancy with a predilection for young males. Unique histological and immunocytochemical features distinguish the tumor from other members of the family of small round cell tumors of infancy and childhood. The aggressive nature of tumor spread, relative insensitivity to chemotherapy, and generally incomplete resectability result in a very poor prognosis. The authors report a case of a 39-year-old man with diffuse abdominal and pelvic involvement of intra-abdominal desmoplastic small round cell tumor treated with aggressive chemotherapy and surgery. METHODS: Computed-tomography (CT)-guided biopsy of an omental mass was performed. Histologically, discrete nests of uniform closely packed malignant cells were distributed in a background of focally desmoplastic stroma. Immunocchemistry demonstrated positivity for epithelial, mesenchymal, and neural markers. On the basis of these unique histological and immunohistochemical characteristics, the diagnosis of desmoplastic small round cell tumor was made. The patient was treated with aggressive neoadjuvant chemotherapy consisting of a high-dose alkylator -based combination regimen, followed by surgery. RESULTS: The patient had a 10 to 15 percent regression in tumor mass in response to chemotherapy. Laparotomy revealed two large omental masses, another large mass adherent to the left colon and pelvic sidewall, and diaphragmatic, peritoneal and mesenteric studding with small nodules. Complete surgical resection was not possible. CONCLUSIONS: Intra-abdominal desmoplastic small round cell tumor remains an aggressive malignancy with an extremely poor prognosis. Although some response to chemotherapy may be possible, complete resection is rare, and surgical efforts are general palliative.     

Focus: Rare Disease: Desmoplastic Small Round Cell Tumor in a Pregnant Woman: A Case Report and Literature Review

Background: Desmoplastic small round cell tumor (DSRCT) is an aggressive malignant tumor commonly found in young men; most occurs in the abdominal cavity. Here we conducted an in-depth analysis of a pregnant patient in our hospital and explored all the case information in the literature on small round cell carcinoma of women. Case presentation: A 27-year-old pregnant woman underwent tumor resection in our hospital at 29 weeks gestational age for a large progressive shoulder lump. The postoperative pathology showed that the mass was a DSRCT. Genetic testing found no fusion gene. At 36 weeks gestation, a painful mass was found in the breast and proved to be a metastatic focus of the desmoplastic small round cell tumor. Twenty days after a successful cesarean section at 40 weeks gestation, she received the VAC-IE chemotherapy regimen, successfully completed the first course, but when awaiting the next chemotherapy, unfortunately, the patient died during follow-up due to tumor recurrence and metastasis. Conclusion: The treatment of DSRCT in pregnant women requires a multidisciplinary consultation, and the treatment and examination during pregnancy are subject to many constraints, which may have a negative impact on the patient’s prognosis. Also, a review of the literature found that there is still no standard treatment protocol for DSRCT, and its prognosis in female patients is independent of age and tissue origin.     

Fine needle aspiration cytology of desmoplastic small round cell tumor. A case report.

BACKGROUND: Intraabdominal desmoplastic small round cell tumor (DSRCT) is a recently recognized type of primitive sarcoma characterized by a predilection for young males, a usually very aggressive course and generally unsuccessful therapy. A primitive histologic appearance with prominent desmoplasia and striking divergent multilineage differentiation are well-described morphologic features of this tumor, along with a consistent fusion of the EWS and WT1 genes at the molecular level. The cytologic literature contains only scattered references to this type of neoplasm. Detailed information on the clinical and fine needle aspiration (FNA) biopsy and the immunocytochemical and ultrastructural findings in a patient with DSRCT is presented. CASE REPORT: A 23-year-old male had a firm abdominal mass with multiple secondary lesions of the liver. An FNA biopsy was performed under ultrasonographic guidance. CONCLUSION: FNA of the liver nodules showed cohesive groups of small cells with hyperchromatic nuclei and inconspicuous nucleoli; immunocytochemically vimentin and desmin showed characteristic perinuclear globular positivity. FNA cytology is an effective means of diagnosing deeply located lesions. The cytologic features of DSRCT need to become familiar to pathologists and must be considered in the differential diagnosis of liver metastasis.     

An unusual presentation of a malignant jejunal tumor and a different management strategy

BACKGROUND: Malignant small bowel tumors are very rare and leiomyosarcoma accounts for less than 15% of the cases. Management of these tumors is challenging in view of nonspecific symptoms, unusual presentation and high incidence of metastasis. In this case report, an unusual presentation of jejunal sarcoma and management of liver metastasis with radiofrequency ablation (RFA) is discussed. CASE PRESENTATION: A 45-year-old male presented with anemia and features of small bowel obstruction. Operative findings revealed a mass lesion in jejunum with intussusception of proximal loop. Resection of bowel mass was performed. Histopathological findings were suggestive of leiomyosarcoma. After 3-years of follow-up, the patient developed recurrence in infracolic omentum and a liver metastasis. The omental mass was resected and liver lesion was managed with radiofrequency ablation. CONCLUSION: Jejunal leiomyosarcoma is a rare variety of malignant small bowel tumor and a clinical presentation with intussusception is unusual. We suggest that an aggressive management approach using a combination of surgery and a newer technique like RFA can be attempted in patients with limited metastatic spread to liver to prolong the long-term survival in a subset of patients.     

Intraabdominal desmoplastic small round cell tumor. Report of a case diagnosed by fine needle aspiration cytology.

In this report, fine needle aspiration (FNA) findings in a case of intraabdominal desmoplastic small round cell tumor (IADSRCT) are presented. Computed tomographic scan-guided FNA performed on a right upper abdominal mass on a 20-year-old man produced a cellular specimen consisting of monomorphic small round cells with scant cytoplasm and ovoid nuclei. FNA cytology and immunocytochemistry suggested the diagnosis of IADSRCT. Surgical removal of the tumor and detailed histology and ultrastructural studies confirmed the cytologic findings.     

Paranuclear blue inclusions of small cell carcinoma of the stomach: report of a case with cytologic presentation in peritoneal washings

BACKGROUND: Primary gastric small cell carcinoma is a rare but important entity. We describe a case that we diagnosed by peritoneal washing cytology. CASE: A 70-year-old male presented with upper abdominal discomfort and underwent endoscopic evaluation. Gastric endoscopy revealed a diffuse, infiltrating tumor from the body to the antrum. Total gastrectomy with lymph node dissection and intraoperative peritoneal washing cytology were carried out. Peritoneal washing cytology showed the presence of many undifferentiated malignant small cells with a necrotic background. The tumor cells were small and round, with naked, hyperchromatic nuclei and finely granular chromatin. Some tumor cells contained paranuclear blue inclusions (PBls) in the cytoplasm. The tumor cells were positive for neuron-specific enolase and synaptophysin on immunocyto-chemistry. Carcinoembryonic antigen, alpha-fetoprotein (AFP) and leukocyte common antigen were negative. Pathologic diagnosis after the operation was moderately to poorly differentiated adenocarcinoma and small cell carcinoma containing AFP-positive cells. CONCLUSION: The prognosis of primary gastric small cell carcinoma is usually poor. Our patient died of multiple liver metastases and peritonitis carcinomatosa 69 days after surgery. When a gastric small cell carcinoma is suspected in peritoneal washings, immunocytochemical demonstration of neuroendocrine differentiation is required to arrive at the final diagnosis.     

Small cell carcinoma of the bladder. Two cases diagnosed by urinary cytology

BACKGROUND: Primary small cell carcinoma (SCC) of the bladder is a rare but important entity. We report two cases of SCC of the bladder diagnosed by urinary cytology. CASES: A 71-year-old male (case 1) and a 79-year-old female (case 2) presented with asymptomatic gross hematuria. Urinary cytology in case 1 showed the presence of a few undifferentiated malignant small cells and many transitional cell carcinoma (TCC) cells with a bloody and necrotic background. The former cells were small and round, with naked, hyperchromatic nuclei and finely granular chromatin. Pathologic diagnosis after total cystectomy was TCC > SCC > adenocarcinoma, T2M0N0. Urinary cytology of case 2 showed the presence of many undifferentiated malignant small cells and many TCC cells with or without squamous metaplasia. Cytologic features of the former cells were almost the same as those in case 1. Moreover, these cells were neuroendocrine marker positive by immunocytochemistry. Pathologic diagnosis after tumor resection was SCC and TCC > squamous cell carcinoma, T1b. CONCLUSION: The prognosis of primary SCC of the bladder is usually poor. Because our cases were found by urinary cytology at a relatively early stage, both have been well, without any evidence of recurrence, 30 and 25 months after surgery even without adjuvant therapy.     

Primary squamous cell carcinoma of the pancreas: a case report and review of the literature

ABSTRACT: INTRODUCTION: Primary squamous cell carcinoma of the pancreas is a rare tumor with poor prognosis and is found in the literature only as case reports. The optimal management course remains poorly defined. We present a case of primary basaloid squamous cell carcinoma of the pancreas metastatic to the liver, which was treated with surgery and systemic chemotherapy. Our patient survived for 15 months: the longest survival reported in the literature to date. CASE PRESENTATION: A 70-year-old Caucasian man presented to hospital with a three-month history of weight loss, pruritus and icterus. Imaging studies confirmed the presence of an operable mass lesion in the head of the pancreas. Following a pancreaticoduodenectomy, histology results led us to make a diagnosis of squamous cell carcinoma. Postoperative restaging showed multiple metastases in the liver. He underwent palliative systemic chemotherapy with cisplatin and 5-fluorouracil achieving partial response and an excellent quality of life. He then went on to start second-line chemotherapy, but unfortunately died of sepsis soon thereafter. CONCLUSIONS: This case report emphasizes that achievement of a worthwhile objective and symptomatic palliative response is possible using platinum-based chemotherapy in squamous cell carcinoma of the pancreas.     

Neuroendocrine tumor of the bladder

Small cell carcinoma (SCC) of the bladder is a rare and aggressive tumor associated with a poor prognosis. It often presents at a later stage than urothelial carcinoma of the bladder, and comprises less than 1% of bladder malignancies. A number of treatment algorithms have been used to treat bladder SCC, including cystectomy, partial cystectomy, radiotherapy, chemoradiotherapy, chemotherapy alone, and neoadjuvant/adjuvant chemotherapy. Presented is a case of SCC of the bladder, and the epidemiology, prognosis, and current treatment algorithms for patients with bladder SCC are reviewed.     

人类免疫缺陷病毒阴性的阴道残端浆母细胞淋巴瘤一例并文献复习

目的:浆母细胞淋巴瘤(PBL)为罕见的、侵袭性极强的B细胞淋巴瘤,好发于HIV阳性患者的口腔,本文报道了目前国内外首例HIV阴性的原发于阴道残端的PBL,并通过文献复习总结了PBL的临床病理学特征、诊断及鉴别诊断、治疗及预后。方法:回顾分析该病例的临床病理学资料,并结合国内外相关文献进行讨论。结果:该患者诊断明确,HIV阴性,以阴道残端起病,免疫组化示MUM-1阳性,不表达CD20、CD79a和PAX-5,Ki-67阳性率73%。EBER原位杂交阴性。分子学诊断结果示:样品免疫球蛋白基因发生克隆性重排,未检到TCR基因克隆性重排。CHOP样方案疗效不佳,部分缓解后疾病快速进展。该患者从确诊至死亡时间为10.3个月。结论:PBL罕见,病情进展迅速,预后差,生存期短,在进行阴道残端肿瘤的诊断及鉴别诊断时,阴道残端PBL应纳入鉴别范围。     

Novel cancer stem cell marker MVP enhances temozolomide-resistance in glioblastoma

The resistance of highly aggressive glioblastoma multiforme (GBM) to chemotherapy is a major clinical problem resulting in a poor prognosis. GBM contains a rare population of self-renewing cancer stem cells (CSCs) that proliferate, spurring the growth of new tumors, and evade chemotherapy. In cancer, major vault protein (MVP) is thought to contribute to drug resistance. However, the role of MVP as CSCs marker remains unknown and whether MVP could sensitize GBM cells to Temozolomide (TMZ) also is unclear. We found that sensitivity to TMZ was suppressed by significantly increasing the MVP expression in GBM cells with TMZ resistance. Also, MVP was associated with the expression of other multidrug-resistant proteins in tumorsphere of TMZ-resistant GBM cell, and was highly co-expressed with CSC markers in tumorsphere culture. On the other hands, knockdown of MVP resulted in reduced sphere formation and invasive capacity. Moreover, high expression of MVP was associated with tumor malignancy and survival rate in glioblastoma patients. Our study describes that MVP is a potentially novel maker for glioblastoma stem cells and may be useful as a target for preventing TMZ resistance in GBM patients.     

Malignant teratoma of the thyroid with predominantly neuroepithelial differentiation. Fine needle aspiration cytologic, histologic and immunocytochemical features of a case

BACKGROUND: Teratoma of the thyroid in adults is extremely rare, and most are malignant. Only nine cases have been adequately documented in the English-language literature, and there are no reports detailing the fine needle aspiration (FNA) cytologic characteristics. CASE: A 32-year-old female presented with a left-sided nodular thyroid mass with left cervical lymphadenopathy. FNA cytology of the thyroid and lymph nodes was done. The cytologic and immunocytochemical features were that of a small round cell tumor with neuroepithelial (NE) differentiation, metastasizing to the cervical nodes. Microscopic study of the thyroidectomy specimen showed a tumor showing an NE pattern with occasional islands of squamous and cuboidal epithelium, leading to a diagnosis of malignant teratoma. CONCLUSION: Knowledge of FNA cytologic features of rare but highly malignant lesions like thyroid teratomas allow early recognition so that suitable and possibly aggressive treatment protocols can be adopted in the hope of prolonging survival.     

Model-Based Evaluation of Spontaneous Tumor Regression in Pilocytic Astrocytoma

Pilocytic astrocytoma (PA) is the most common brain tumor in children. This tumor is usually benign and has a good prognosis. Total resection is the treatment of choice and will cure the majority of patients. However, often only partial resection is possible due to the location of the tumor. In that case, spontaneous regression, regrowth, or progression to a more aggressive form have been observed. The dependency between the residual tumor size and spontaneous regression is not understood yet. Therefore, the prognosis is largely unpredictable and there is controversy regarding the management of patients for whom complete resection cannot be achieved. Strategies span from pure observation (wait and see) to combinations of surgery, adjuvant chemotherapy, and radiotherapy. Here, we introduce a mathematical model to investigate the growth and progression behavior of PA. In particular, we propose a Markov chain model incorporating cell proliferation and death as well as mutations. Our model analysis shows that the tumor behavior after partial resection is essentially determined by a risk coefficient γ, which can be deduced from epidemiological data about PA. Our results quantitatively predict the regression probability of a partially resected benign PA given the residual tumor size and lead to the hypothesis that this dependency is linear, implying that removing any amount of tumor mass will improve prognosis. This finding stands in contrast to diffuse malignant glioma where an extent of resection threshold has been experimentally shown, below which no benefit for survival is expected. These results have important implications for future therapeutic studies in PA that should include residual tumor volume as a prognostic factor.     

Pediatric sarcomas display a variable EpCAM expression in a histology-dependent manner

EpCAM is a transmembrane glycoprotein typically overexpressed in cancer of epithelial origin and mainly involved in the epithelial-to–mesenchymal transition (EMT) of tumor cells that spread and disseminate. Strategies for the targeting and capture of EpCAM-expressing tumor cells are showing promise in cancers prone to metastatize, both as diagnostic tools and potential therapies. Sarcomas are among the most aggressive tumors in children, with a common mesenchymal origin that comprises both soft tissue sarcomas (STS) and bone sarcomas. The aim of this study was to assess EpCAM expression in pediatric sarcomas and correlate its expression with disease progression. To do so, we analyzed a set of cell lines and primary tumor tissues from rhabdomyosarcoma (RMS), Ewing sarcoma (ES), synovial sarcoma (SS) and desmoplastic small round cell tumor (DSRCT) STS, or osteosarcoma (OS) bone cancer. We demonstrated that EpCAM was variably expressed in pediatric sarcomas, with DSRCT, a rare, aggressive and almost fatal tumor type, characterized by the highest EpCAM expression levels. Interestingly, although EpCAM expression was lower in RMS tumors, high levels at diagnosis correlated with reduced patients' overall survival (p < 0.05). Indeed, membrane-bound EpCAM was detected in circulating sarcoma tumor cells, revealing its potential to be used as dissemination biomarker in this type of childhood cancers. This reinforces the concept that pediatric sarcomas do express both epithelial and mesenchymal markers and reside in an intermediate condition that most likely contributes to their aggressive phenotype and low survival rate.     

CAR T targets and microenvironmental barriers of osteosarcoma

Osteosarcoma (OS) is one of the most common malignancies in children and adolescents. Multimodal chemotherapy and aggressive surgical resection have improved the prognosis of patients with osteosarcoma. However, the prognosis of OS patients with unresectable advanced tumors, distant metastasis or chemotherapy is still poor. Chimeric antigen receptor (CAR) T cells have achieved remarkable success in the treatment of hematologic malignancies, injecting new vitality into the field of adoptive cell therapy. However, the efficacy in solid tumors has been largely limited. The reason for the poor curative effect of solid tumors is mainly the heterogeneity of solid tumor antigen, immune escape, tumor microenvironment barrier, resistance of immunosuppressive cells and inhibitory factors, which lead to the obstruction of CAR T cell infiltration and the aggravation of failure. Potential antigenic targets for osteosarcoma CAR T cell therapy are under continuous exploration. Some of the antigenic targets, such as anti-HER2-CAR T cells, have achieved good results in preclinical studies, and some of them have entered clinical studies and achieved certain clinical effects. In this review, we discuss the research progress of potential antigen targets and osteosarcoma microenvironment of CAR T cells in the treatment of osteosarcoma.     

Tall cell variant of papillary carcinoma arising from a thyroglossal cyst: report of a case with diagnosis by fine needle aspiration cytology

BACKGROUND: Papillary carcinoma arising from a thyroglossal duct cyst (TDC) is the most frequent malignancy arising from this embryologic remnant of the thyroglossal duct. The preoperative fine needle aspiration cytology (FNAC) of such neoplasms has rarely been cited. Approximately 170 TDC cases have been reported in the literature worldwide, diagnosed solely on histopathology. CASE: A 63-year-old woman presented with an anterior midline neck mass of years' duration. A hypodense cyst was located at the level of the hyoid bone. FNAC of the midline neck mass showed bloody, mucoid material and numerous atypical, elongated cells. The aspirated material was reported as "papillary carcinoma possibly arising from the thyroglossal duct," and the diagnosis was confirmed by histopathologic investigation on resection material. CONCLUSION: Tall cell variant is a rare variant of papillary carcinoma and has a poor prognosis. The differential diagnosis includes Hürthle cell lesions, oncocytic papillary thyroid carcinoma and Warthin-like papillary carcinoma.     

Chondrosarcoma of the urinary bladder and establishment of a human chondrosarcoma cell line (OCUU-6)

Chondrosarcoma is a very rare tumor of the urinary bladder, with only 4 cases reported to date. In this study, we report on a case of a 73-year-old male who presented bladder mass and right hydroureteronephrosis. Radical cystectomy, right nephrectomy and left ureterocutaneoustomy were performed, and histological study disclosed chondrosarcoma of the urinary bladder. As reported in other cases, the tumor was highly aggressive with a short clinical course, and the patient died of carcinomatous pleuritis at one month after surgery. Subsequently, we successfully established a human chondrosarcoma cell line (OCUU-6) from the pleural effusion of the patient.     

Anti-CD47 antibody eliminates bone tumors in rats

Bone tumor is a rare heterogeneous malignancy. Osteosarcoma is the most common bone tumor with no apparent underlying pathogenesis, and its peak incidence often occurs during puberty. The intensive application of chemotherapy rarely alters the poor prognosis of the patients in advanced stage. Despite intensive chemotherapy in clinical practice, patients still suffer from the poor prognosis, or even progression of bone tumor. We identified integrin-associated protein (IAP) Cluster of Differentiation 47 (CD47) as a target for monoclonal antibody, and use anti-CD47 antibody to block its expression in bone tumors. CD47 was highly expressed in the bone tumor rats when comparing to the healthy rats. Likewise, Western blotting assay revealed a higher protein expression of CD47 in the bone tumor cells when compared to the normal osteoblasts. Further studies have shown the association between the mRNA expression of CD47 and the disordered bone tumors development and decreased rate of overall survival of diseased rats. In addition, blocking the CD47 monoclonal antibody has been shown to drive macrophages to engulf bone tumor cells in vitro and thus inhibiting tumor metastasis in rats. Taken together, the results of this study suggested that CD47 is a key regulator of bone tumor cell metastasis and that targeting inhibition of anti-CD47 may be a new immunotherapy for bone tumors.     

Neuroblastoma with concomitant giardiasis: report of a case with diagnosis by fine needle aspiration cytology

BACKGROUND: Diagnosis of two pathologies, including a neoplasm and infectious condition, by fine needle aspiration (FNA) cytology in the same patient is rare. CASE: A 2-year-old, male child presented with fever, abdominal pain and abdominal mass. Imaging findings were strongly in favor of a neuroblastoma. FNA smears from the mass revealed fecal material containing numerous trophozoites of Giardia lamblia. FNA was repeated in view of the imaging findings. Repeat smears showed a small round cell tumor with rosettes and background filamentous/fibrillar material consistent with a neuroblastoma. Chemotherapy reduced the mass considerably. Histopathology of the resected residual mass revealed a ganglioneuroma in addition to remnants of neuroblastoma. The patient was free of disease two years after the initiation of chemotherapy. CONCLUSION: When FNA cytology shows an infectious pathology in the clinical and imaging setting of a tumor, FNA should be repeated so that an important component of the diagnosis is not missed.