Extraskeletal myxoid chondrosarcoma is a rare soft tissue neoplasm that occurs predominantly in the soft tissues of the lower extremities. Herein we present a case of a 29 year old male who presented with bilateral femoral numbness believed to be the result of prior injury to his back. A magnetic resonance imaging revealed a mass in the T4-T5 epidural space compressing the spinal cord. Laminectomy was performed and the lesion removed piecemeal. The pathology specimen consisted of multiple fragments of dura involved by a myxoid neoplasm with a nodular growth pattern. The tumor cells were arranged in anastomosing cords and strands. Individual tumor cells were small, of uniform size and shape, with small hyperchromatic nuclei and scant eosinophilic cytoplasm. Immunohistochemical stains were performed which showed the tumor cells were diffusely positive for vimentin and focally positive for EMA, S-100 protein and cytokeratin, whereas they were negative for CD34 and CD99. Fluorescence in situ hybridization (FISH) studies showed a clonal population of cells with re-arrangement of the EWSR1 locus, confirming the histologic impression of extraskeletal myxoid chondrosarcoma. This is the first report of a case of an extraskeletal myxoid chondrosarcoma arising from the dura, confirmed to have rearrangement of the EWSR1 gene by FISH. There have only been two other cases of dural based extraskeletal myxoid chondrosarcoma reported prior to our case. We also briefly review the published literature and discuss differential diagnostic considerations for this rare tumor.
extraskeletal myxoid chondrosarcoma; dura; FISH; spine
Glomus tumor is a rare, benign neoplasm rising from the glomus apparatus of the skin. It occurs most frequently on fingers and toes and accounts for 1.6% of all soft tissue tumors. Clinical diagnosis may prove difficult if the tumor occurs on an extra digital location. We report a case of a vascular-type glomus tumor (glomangioma) found in an atypical location, namely the lateral aspect of the knee joint.
glomangioma; glomus tumour; knee; extradigital
Prostatic stromal sarcoma (PSS) is a rare tumor that normally occurs in adult age. Its management relies mainly on surgery. We report the first case of PSS occurring in an adolescent. There was evidence of a good response to chemotherapy including ifosfamide, doxorubicin, vincristine and actinomycin-D, although the final outcome was dismal. A review of the English literature revealed 14 additional patients with PSS treated with chemotherapy: tumor shrinkage was reported in 4 of the 6 evaluable patients. Patients with PSS may benefit from the use of chemotherapy in combination with early aggressive local treatment.
stromal sarcoma; specialized prostatic stroma; chemotherapy; prostatic neoplasm
Papillary renal cell carcinoma (pRCC) represents the second most common type of malignant renal epithelial tumor (represents the 10% of the kidney’s carcinoma) and can be subclassified in the basophile type I and eosinophile type II. We report a clinical case of spontaneous rupture of the kidney affected by multifocal (42 tumors foci) pRCC in a young man 53 years old, without showing earlier specific cancer signs and symptoms. Prognosis for type I pRCC is better than type II pRCC, but it is anyway related to the tumoral grade, to the tumoral stage and to the diagnostic precocity. Signs and symptoms are very similar to those characterizing the more frequent clear cell carcinoma. Nevertheless in the 40% of the cases the lesion is asymptomatic. To our knowledge, this is the first case of spontaneous rupture of the kidney affected by multifocal pRCC in literature without showing earlier specific cancer signs and symptoms.
papillary renal cell carcinoma; multifocality; prognostic factor; rupture of kidney
Malignant peripheral nerve sheath tumor (MPNST) is a rare tumor that accounts for 5% of all thoracic neoplasm usually located in the posterior mediastinum and is generally associated with a poor outcome. We present a case of MPNST of the anterior mediastinum presenting in a rare location leading to diagnostic dilemmas and treated primarily by surgical resection.
malignant peripheral nerve sheath tumor; anterior mediastinum; immunohistochemistry
Rosai-Dorfman disease (RDD) is a rare, benign histiocyte disorder originally described by Rosai and Dorfman in 1969 as sinus histiocytosis with massive lymphadenopathy. It most typically presents as massive, painless cervical lymphadenopathy, and it is most often found in adolescents and young adults. Extranodal involvement is a common feature of RDD and may occur in more than 40% of patients. Less commonly, the disease can be seen in the bone. There are scattered case reports discussing the use of radiotherapy in the treatment of RDD. Here, we present a case of extranodal RDD of the femur in a 49-year-old African American female. The patient underwent three surgical procedures prior to undergoing radiotherapy. Pathology was consistent with extranodal RDD. The cells stained positive for CD68 and S-100. Pathognomonic features such as emperipolesis and replacement of the bone marrow by diffuse infiltrating of histiocytes and intervening bands of plasma cells proliferation were noted. Prior to radiotherapy, the patient required a walker to assist with ambulation and was utilizing a wheelchair while in the clinic. The decision was made to proceed with 30 Gy of external beam radiotherapy in 15 fractions. After five fractions, the patient’s pain resolved entirely. She no longer required pain medication and was ambulating without assistance. She experienced no adverse events from the radiation. Extranodal RDD is a rare disorder, and evidence for treatment is derived from scattered case reports. Previous reports have indicated a dose response to radiotherapy in the 20-30 Gy range for RDD; however, our patient developed complete resolution of her symptoms after 10 Gy. While the optimal dose regimen has not yet been established, symptomatic patients appear to benefit from external beam radiotherapy for extranodal RDD.
Rosai-Dorfman disease; radiotherapy; histiocyte; dose regimen
We report the case of an interdigitating dendritic cell sarcoma (IDCS) presenting in the skin. A 41-year old woman had a slowly enlarging mass on her right scapula that was excised multiple times under a presumptive diagnosis of a recurrent sebaceous cyst. However, the lesion was refractory to standard therapies. History and physical exam was unrevealing for any systemic signs or symptoms of disease. The patient’s metastatic work-up was negative. The lesion was resected with wide margins and was found to be consistent with IDCS. Patients that present with IDCS on the skin may present concurrently with metastatic disease and may have increased risk of secondary malignancies. The use of adjuvant chemoradiation after primary resection is controversial. However, the use of chemoradiation likely has benefit for local regional control for primary tumors that are unamendable to complete primary resection.
interdigitating dendritic cell sarcoma; hematolymphoid neoplasm; extranodal disease; radiation therapy; chemotherapy
We report the case of a young woman diagnosed with metastatic urachal carcinoma. A multimodal approach was used for the management of this patient. Due to disease progression despite surgery and two different chemotherapy regimens (neoadjuvant capecitabine + irinotecan + oxaliplatin and docetaxel + cisplatin after surgery), treatment with sunitinib was eventually started. Treatment with sunitinib resulted in stable disease and improvement of symptoms. Sunitinib was discontinued due to the occurrence of metrorrhagia, and restarted one week later. Disease eventually progressed and the patient died 18 months after the onset of symptoms. This is the first report on the use of sunitinib for the management of urachal carcinoma and provides initial evidence supporting the use of targeted therapy in this setting.
sunitinib; targeted therapies; urachal adenocarcinoma
Urothelial carcinoma with abundant myxoid stroma is a newly-described and extremely rare entity. Since only very few cases have been reported, there is no consensus on its nomenclature. Microscopic examination revealed invasive urothelial carcinoma with widespread low-grade noninvasive areas. There were focal invasive areas in the neighborhood of the renal parenchyma. Malignant urothelial tumor/cell groups localized in the stroma had abundant myxoid/mucinous background in the invasive areas. The cytoplasm of the tumoral cells was more eosinophilic in these areas and the cells formed small groups and cords. Histochemically, PAS and Alcian Blue were positive in the cytoplasm of the tumoral cells and in the stroma while negative in the non-mucinous areas. Immunohistochemically, the tumoral cells of the mucinous invasive areas diffusely expressed MUC1 and MUC2. We discuss the origin of the mucinous/myxoid stroma, the tumor’s nature and its nomenclature with histochemical and immunohistochemical features.
mucinous; myxoid; urothelial carcinoma; renal pelvis; MUCs
The primary gastrointestinal non-Hodgkin’s lymphoma, although rare, is among the most common extra-nodal lymphomas, considering that gastric lymphomas are more common than intestinal lymphomas. Burkitt’s lymphoma (BL) is an aggressive form of B-cell lymphoma that is typically endemic in Africa, while non-endemic cases are found in the rest of the world. Primary gastric BL is extremely rare and only around 50 cases have been reported worldwide. Here we present the case of a young HIV-negative male, who was referred to our department with a stage IV gastric BL. He was planned for palliative chemotherapy, but after the first cycle of chemotherapy he succumbed to the progression of the disease.
Burkitt’s lymphoma; gastric; radiation oncology; medical oncology
Blastic plasmacytoid dendritic neoplasm is an exceedingly rare tumor that has undergone several changes in nomenclature over the last two decades, largely because of confusion regarding its cell of origin. It does, however, have distinctive clinical features with a particularly aggressive clinical course and no standard treatment. Overall, prognosis is poor and relapse is routine after initial response to chemotherapy. In this report, we describe a typical patient with this disease and reconcile the available literature and its evolution. We emphasize the leukemic nature of this tumor’s behavior, with extensive central nervous system and skin involvement, and describe for the first time a potential role for maintenance chemotherapy in its treatment.
blastic plasmacytoid dendritic cell neoplasm; skin; central nervous system; leukemia
We describe a 40-year-old man who was found to have a cystic mass in the pancreatic tail during workup for weight loss and abdominal discomfort. Although computed tomography scan showed a single cyst associated with dilatation of the main pancreatic duct, gross and histologic examination of the distal pancreatectomy specimen actually revealed a central cyst that was surrounded by multiple smaller cystic spaces. This distinctive appearance was formed from extensive cystic dilatation and squamous metaplasia of the native pancreatic duct system. Further, a traumatic neuroma was discovered near the junction between normal and abnormal parenchyma. We believe that this case represents a variant of the newly-described squamoid cyst of pancreatic ducts which we term squamoid cystosis of pancreatic ducts. The presence of chronic pancreatitis and a traumatic neuroma supports the hypothesis that squamoid cysts are non-neoplastic lesions arising from prior duct obstruction.
pancreas; tumors; benign
Symptomatic diffuse submucosal intestinal lipomatosis is a rare entity. Also few cases of epidermal inclusion cyst of caecum have been reported in literature. Here, we are presenting a rare case of intestinal submucosal lipomatosis with coincidence of epidermal inclusion cyst of caecum and presumptively diagnosed as carcinoma of ileocaecal region during surgery in a 55 years old male. Both are rare entity considering the location even they should be kept as a differential diagnosis in unusual cases of intestinal perforations with inconclusive radiological findings or clinical uncertainity.
ileocaecal; submucosal lipomatosis; epidermal inclusion cyst; peritonitis
Teratomas are the most commonly diagnosed germ cell tumors and occur primarily in testes and ovaries. Platinum-based therapy followed by surgical resection of the residual lesion is generally the recommended treatment. In contrast, immature uterine teratomas are rare, with few cases reported in the literature. Moreover, there is no standard treatment for these tumors. Non-puerperal uterine inversion is also rare in women younger than 45 years of age, and neoplastic lesions are responsible for this condition. Here, we report a case of an immature uterine teratoma associated with uterine inversion. The patient underwent surgery followed by adjuvant chemotherapy and continues to be monitored.
immature teratoma; uterine teratoma; uterine inversion
The aim of this paper is to investigate p53 gene expression in the central and peripheral zones of glioblastoma multiforme using a real-time reverse transcription polymerase chain reaction (RT-PCR) technique in patients who use cell phones ≥3 hours a day and determine its relationship to clinicopathological findings and overall survival. Sixty-three patients (38 males and 25 females), diagnosed with glioblastoma multiforme (GBM), underwent tumor resection between 2008 and 2011. Patient ages ranged from 25 to 88 years, with a mean age of 55. The levels of expression of p53 in the central and peripheral zone of the GBM were quantified by RT-PCR. Data on p53 gene expression from the central and peripheral zone, the related malignancy and the clinicopatholagical findings (age, gender, tumor location and size), as well as overall survival, were analyzed. Forty-one out of 63 patients (65%) with the highest level of cell phone use (≥3 hours/day) had higher mutant type p53 expression in the peripheral zone of the glioblastoma; the difference was statistically significant (P=0.034). Results from the present study on the use of mobile phones for ≥3 hours a day show a consistent pattern of increased risk for the mutant type of p53 gene expression in the peripheral zone of the glioblastoma, and that this increase was significantly correlated with shorter overall survival time. The risk was not higher for ipsilateral exposure. We found that the mutant type of p53 gene expression in the peripheral zone of the glioblastoma was increased in 65% of patients using cell phones ≥3 hours a day.
glioblastoma multiforme; p53 gene expression; reverse transcriptase polymerase chain reaction
The Rare Cancer Network (RCN) was formed in the early 1990’s to create a global network that could pool knowledge and resources in the studies of rare malignancies whose infrequency prevented both their study with prospective clinical trials. To date, the RCN has initiated 74 studies resulting in 46 peer reviewed publications. The First International Symposium of the Rare Cancer Network took place in Nice in March of 2014. Status updates and proposals for new studies were heard for fifteen topics. Ongoing studies continue for cardiac sarcomas, thyroid cancers, glomus tumors, and adult medulloblastomas. New proposals were presented at the symposium for primary hepatic lymphoma, solitary fibrous tumors, Rosai-Dorfman disease, tumors of the ampulla of Vater, salivary gland tumors, anorectal melanoma, midline nuclear protein in testes carcinoma, pulmonary lymphoepithelioma-like carcinoma, adenoid cystic carcinoma of the trachea, osteosarcomas of the mandible, and extra-cranial hemangiopericytoma. This manuscript presents the abstracts of those proposals and updates on ongoing studies, as well a brief summary of the vision and future of the RCN.
rare; diseases; cancer; carcinoma; Rare Cancer Network
Approximately, twenty years ago, the Rare Cancer Network (RCN) was formed in Lausanne, Switzerland, to support the study of rare malignancies. The RCN has grown over the years and now includes 130 investigators from twenty-four nations on six continents. The network held its first international symposium in Nice, France, on March 21-22, 2014. The proceedings of that meeting are presented in two companion papers. This manuscript reviews the history of the growth of the RCN and contains the abstracts of fourteen oral presentations made at the meeting of prior RCN studies. From 1993 to 2014, 74 RCN studies have been initiated, of which 54 were completed, 10 are in progress or under analysis, and 9 were stopped due to poor accrual. Forty-four peer reviewed publications have been written on behalf of the RCN.
rare; diseases; cancer; carcinoma; Rare Cancer Network
Castleman’s disease is a group of rare lymphoproliferative disorders. The plasmablastic multicentric Castleman’s disease is frequently discovered in HIV-infected individuals in association with Kaposi sarcoma (HHV-8). Thirty-five year old male presented to our care with the main compliant of severe back pain for one week. His past medical problems include acquired immune deficiency syndrome diagnosed 12 years prior and Kaposi sarcoma, currently on highly active antiretroviral therapy (HAART). Radiographic imaging revealed hepatomegaly and diffuse lymphadenopathy. The HIV viral load was <20 polymerase chain reaction copies/mL, absolute CD4 count was 453 cells/mcL (490-1740 cells/mcL) and CD8 count was 4142 cells/mcL (180-1170 cells/ mcL). Excisional biopsy of the left supraclavicular lymph node was performed with pathological findings of HHV8+ Kaposi sarcoma in the background of multicentric Castleman’s disease (plasmacytic variant). No evidence of transformation into large B-cell or plasmablastic lymphoma was noted. He was discharged on HAART and follow up to receive chemotherapy with cyclophosphamide, adriamycin, vincristine plus prednisone was started and rituximab plus prophylaxis for pneumocystis carinii. Multicentric Castleman’s disease has become more relevant in recent years due to its association with HIV and HHV-8 (Kaposi sarcoma) and its potential to progress into plasmablastic B-cell lymphoma. The progression of MCD to B-cell lymphoma is a concern, especially in patients with HIV infection because it precludes the worst outcome and a high mortality, despite treatment. The most intriguing part of this case is that MCD occurred in a HIV-positive on HAART. This case signals a warning that a high suspicion for MCD can be justified even in those HIV-positive patients on HAART because the possibly of progression to plasmablastic B-cell lymphoma.
Castleman’s Disease; Kaposi sarcoma; lymphadenopathy; HHV-8; HIV
The dedifferentiated giant-cell tumor of the bone is a very rare variant of the giant-cell tumor (GCT). We report the clinical, radiographic and histological findings of a dedifferentiated GCT in which the dedifferentiated component consisted of small round cells. We also comment on previously reported cases of dedifferentiated GCT, discuss the clinical implications of this dual histology, and analyze the information published about the coexistence of similar genetic abnormalities in GCT and small round cell tumors of the bone.
dedifferentiated; giant-cell tumor; bone tumor
One-third of schwannomas occur in head and neck region, mostly in the parapharyngeal region. Cystic change is seen in only 4% of schwannomas. The diagnosis of such tumors remains a challenge due to the rarity of these lesions and limited utility of fine needle aspiration cytology. When cystic, branchial cleft cyst is an important differential diagnosis more so due to radiological resemblance. We present a case of 42-year-old male with left sided neck mass masquerading as branchial cleft cyst clinically and radiologically. Multiple sections examined from the cystic areas of the mass revealed lymphoid aggregates beneath the cyst wall in addition to the schwannomatous areas.
cystic schwannoma; branchial cyst; lymphoid aggregates
A 49-year-old female presented with an aggressive pelvic angiomyxoma (AAM). The completely resected specimen revealed the usual myxedematous tumor with a nodule inside it. Histopathologically, the myxedematous area consisted of bland spindle-shaped cells in the background of blood vessels of varying calibers, and the nodule was composed of tumor cells with epithelioid features. In the nodule, cellularity was increased and nuclear enlargement was observed, but nuclear atypia was not significant and mitotic figures were scarce. Immunohistochemically, both components were positive for desim, αSMA, estrogen receptors, and progesterone receptors. However, they were negative for AE1/3, EMA, S100, CD34, HMB45, and Melan A. The MIB-1 labeling index was 5.8% in the nodule and 1ess than 1% outside it. The nodule was therefore considered a benign component of AAM. To the best of our knowledge, the presence of such a nodule in AAM has not been reported previously.
aggressive angiomyxoma; cellular nodule; epithelioid features
There are close to 70,000 new cases of primary central nervous system tumors diagnosed annually in the United States. Meningiomas, gliomas, nerve sheath tumors and pituitary tumors account for 85% of them. There is abundant literature on these commonly occurring tumors but data from the literature on infrequently encountered tumors such as atypical teratoid/rhabdoid tumor, choroid plexus carcinoma, ganglioglioma, hemangiopericytoma, and pleomorphic xanthoastrocytoma are limited. This review provides an overview of the clinicopathologic and therapeutic aspects of these rare primary central nervous system tumors.
atypical teratoid/rhabdoid tumor; choroid plexus carcinoma; ganglioglioma; hemangiopericytoma; pleomorphic xanthoastrocytoma
While there is an intimate anatomical and embryological relationship between the inferior parathyroid gland and thymus, concurrent pathology is rare. Three cases have been reported in the literature of a parathyroid adenoma in conjunction with a thymoma. We present a case report of a 60-year-old female with a past medical history of hypercalcemia subsequently found to have primary hyperparathyroidism. Sestamibi scan of the parathyroid revealed increased uptake in the lower left neck consistent with a parathyroid adenoma. A standard transverse neck incision was performed with exploration of the lower left thyroid pole. Further dissection was required to identify the parathyroid gland which was intimately associated with thymic tissue in the superior mediastinum. Both thymic tissue and the parathyroid gland were sent for pathology. Permanent pathology subsequently revealed a parathyroid adenoma with an incidental spindle cell thymoma. The embryological relationship of the inferior parathyroid glands and the thymus is well known as both are derived from the third branchial pouch. However, there are only 3 other previous reports of parathyroid adenoma associated with a thymoma in the current literature. Interestingly, up to 16% of parathyroid adenomas are found in the mediastinum, and the current literature states the incidence of thymoma varies from 10-42%.
tumors; head and neck pathology; thymoma; parathyroid adenoma
Esophageal schwannoma is a rare tumor first described in 1967 by Chaterlin and Fissore. These tumors are most commonly found incidentally or from diagnostic work up of dysphagia or dyspnea. This entity cannot be diagnosed on clinical or radiographic basis alone. Histology demonstrates palisading spindle cells, few if any mitotic figures, and a peripheral cuff of lymphoid cells. Immunohistochemically, tumor cells stain positive for S100, a characteristic marker of Schwann cells. Once diagnosed, surgical enucleation is the typical treatment method employed.
esophageal schwannoma; S100
We present a unique case of incidentally discovered bilateral Sertoli Leydig cell tumour in a primigravida who displayed no features of virilization. The apha fetoprotein levels were elevated. Magnetic resonance imaging was suggestive of ovarian tumors, possibly germ cell tumor. Bilateral salpingo-oophorectomy was performed and histopathology showed features of Sertoli Leydig cell tumor with intermediate to poor differentiation. Immunohistochemistry was positive for calretinin and inhibin, while cytokeratin was negative. Four courses of bleomycin-, etoposide- and cisplatin-based chemotherapy regimen was started, but the patient aborted while receiving the second cycle of chemotherapy. She received the remaining two cycles of chemotherapy and is now on close follow up with monitoring of serum inhibin levels to detect any tumor recurrence. Bilateral Sertloli Leydig cell tumor has not been reported previously in a pregnant female. The aim of this article is to describe the clinical, radiological and pathological features and management of this rare entity.
bilateral; Leydig; pregnant; Sertoli