Rare Aggressive Tumor Research Articles

Ameloblastic carcinoma of mandible: Report of intriguing presentation

Ameloblastic carcinoma, a rare aggressive odontogenic tumor occurs predominantly in the mandibular posterior region. Clinical symptoms are varied with possible metastasis to the regional lymph nodes or lung. Radiographically, it usually manifests as an ill-defined osteolytic radiolucency. Histologically, it resembles ameloblastoma that is mostly devoid of its familiar microscopic features in combination with prominent cytological atypia and mitotic activity. A rare and atypical presentation of ameloblastic carcinoma of the mandible with unconventional clinical and radiological features is documented in this case report.

Cutaneous epithelioid angiosarcoma: A rare aggressive neoplasm

Cutaneous epithelioid angiosarcoma: A rare aggressive neoplasm

Malignant Mixed Müllerian Tumor with Small Bowel Metastasis: A Case Report

Malignant mixed Mullerian tumors (MMMT) are rare aggressive tumors that typically arise fromthe female genital tract. This malignancy has an extremely poor prognosis due to its rapid growthand the high associated incidence of both local recurrence and distant metastases. Althoughintraperitoneal metastasis from MMMT is relatively common, no reports exist regarding theradiologic findings of intestinal metastasis from MMMT. Here, we report a case of MMMT withsecondary small bowel metastasis and the associated radiologic findings.

Cutaneous Clear Cell Sarcoma: A Rare Aggressive Tumor with Potential Diagnostic Challenge

Clear cell sarcoma is a deep-seated, exceedingly rare aggressive tumor, typically involving the tendons and aponeuroses with melanocytic differentiation and a distinct genetic background. A primary dermal location is rarer. It exhibits histological, immunohistochemical, and ultrastructural similarities with the more common primary (or metastatic) malignant melanoma causing major diagnostic confusion. We describe a case of primary cutaneous clear cell sarcoma arising in the right lower extremity of a 40-year-old male patient.

CD4+/CD56+ Hematodermic Neoplasm Presenting in the Skin: A Tunisian Case Report and Current Review of the Literature

The CD4+/CD56+ hematodermic neoplasm is a rare aggressive systemic neoplasm for which effective therapies have not yet been established, it is clinically characterized by cutaneous involvement with spread to bone marrow, blood and poor prognosis with current chemotherapy regimens. Our objective is to report diagnosis and treatment difficulties of CD4+/CD56+ hematodermic neoplasm. We describe here a Tunisian man who presented with subcutaneous ulcerated lesion localized in the right leg and multiples generalized nodules. Skin biopsy showed an atypical lymphoid cell infiltration with an angiocentric pattern and extensive necrosis by immuno-histochemical analysis, these cells were positive for CD4, CD56, granzyme B and negative for CD8, CD123, CD20 and CD30. T-cell rearrangement and Epstein-Barr-virus (EBV) in situ hybridation studies were negative. The patient underwent 5 cycles chemotherapy SMILE regimen monthly sandwiched with radiotherapy on the residual lesions of the right leg with great tolerance but he relapsed within 8months with skin, blood, bone marrow, lung, and cerebrospinal involvement. Based on these findings, the patient was diagnosed with CD4+/CD56+ hematodermic neoplasm (blastic NK-like T-cell lymphoma) treated with one course of hyper-CVAD regimen, he died within 20 days with a septic chok. Despite the use of L-Asparaginase and radiotherapy the prognosis is very poor; we suggest the exploration for highly active drugs, hematopoietic stem cell transplantation (HSCT) is crucial to improve survival.

Basosquamous carcinoma: Histopathological features

Basosquamous carcinoma (BSC) is a rare aggressive epithelial neoplasm with features of both basal cell carcinoma and squamous cell carcinoma, with a tendency toward local recurrence and a propensity for lymph node and distant metastases. The aim of the present study was to report the case of a 63-year-old Caucasian male with BSC in the auricular region.

A rare case of primary extranodal, extradural histiocytic sarcoma of the thoracic spine and review of literature

Background:Histiocytic sarcoma (HS) is a rare aggressive malignant neoplasm of hematopoietic cell origin showing features of fever, weight loss, adenopathy, hepatosplenomegaly, and pancytopenia. Primary histiocytic sarcoma of spine without involvement of lymph nodes, bone marrow or systemic features is very rare. Due to highly malignant, aggressive behavior and frequent local and distant metastases, prognosis of histocytic sarcoma is poor.Case description:We report a case of primary extranodal variety of histiocytic sarcoma without involvement of bone marrow at extradural location of thoracic spine. Immunohistochemistry panel ruled out other more common lesions in this location. We could not find such presentation of extradural histiocytic sarcoma at the thoracic region in the literature.Conclusion:Primary involvement of extradural space by histiocytic sarcoma could arise from the proliferation of multipotent hematopoietic stem cells which are left in this space embroyologically.

舌に発生したbasaloid squamous cell carcinomaの1例

Basaloid squamous cell carcinoma （BSCC） is a rare aggressive malignant tumor that is a distinct variant of squamous cell carcinoma.It is mostly seen in the supraglottic larynx, hypopharynx, and base of the tongue.The prognosis of this tumor is poor because of its high risk of regional lymph node and distant metastases. In this paper, we report a case of BSCC arising in the tongue. A 58-year-old man was referred to our clinic because of pain and bleeding of the tongue. Clinical examinations revealed a papillary tumor measuring 15×15×12 mm on the right side of the tongue. The histologic diagnosis of the biopsy specimen was BSCC. The tumor was surgically extirpated by partial tongue resection. Chemotherapy and radiotherapy were given postoperatively. The patient’s postoperative course was uneventful, and he is free from disease 5 years 6 months postoperatively.

Thyrophobia: how to overcome your fear of thyroid follicular tumours

Thyroid follicular derived lesions are common in surgical pathology and range from non-neoplastic and inconsequential all the way to rare aggressive tumours. Unfortunately, the histological features can overlap substantially across this spectrum of diagnostic possibilities. The field of thyroid pathology is also notorious for being difficult for the pathologist, with reportedly high inter-observer variability, challenging interpretations of reported criteria, and a lack of good ancillary diagnostic assays. For all these reasons (and more), the pathologist facing a thyroid follicular lesion may have to wade through anxiety-provoking differential diagnoses that impact directly on patient care and follow-up. This course will provide extensive illustrations and images to describe some of the standard and more subtle histological and cytological features of thyroid follicular tumours. The presentation will provide the pathologist with hints and tips for practical use in their every-day sign-out, and will review some of the ancillary testing that has been reported in the literature.

Neuroendocrine carcinoma of the nasopharynx - A case report

Small cell neuroendocrine carcinoma, also known as oat cell carcinoma is a frequently encountered bronchogenic neoplasm. Neuroendocrine carcinomas of the head and neck are rare aggressive tumors and pose a diagnostic and management challenge. Differentiation from conventional nasopharyngeal carcinoma is difficult due to morphological characteristics and small biopsy specimen. Distinguishing is very important because of difference in natural history ,prognosis and treatment among these neoplasms. In this article we present an unusual case of 51 year old man with small cell neuroendocrine carcinoma of nasopharynx, who was treated with radiotherapy and achieved complete tumor remission. Subsequently he developed local recurrence and liver metastasis and succumbed to the disease.

An Update on the Management of Uterine Carcinosarcoma

Carcinosarcomas are rare aggressive neoplasms with a poor prognosis. The recent International Federation of Gynecology and Obstetrics (FIGO) 2009 categorizes uterine carcinosarcoma into the endometrial carcinoma group. This review highlights the prognosis, recurrence rate, and the treatment modalities. The primary treatment is surgery. Lymphadenectomy as part of the surgical procedure has shown to prolong survival even for early-stage disease. A combined chemo-radiotherapeutic approach has shown a survival benefit. Radiotherapy from various studies has shown a significant effect on local control of the disease, with no obvious benefit on overall survival. Various trials led by the gynecologic oncology group looking into different chemotherapeutic combinations have showed differing response rates. In the future, the emergence of combination of chemotherapeutic agents with molecular-targeted agents may show promising results. Obstetricians & Gynecologists and Family Physicians. After completing this CME activity, physicians should be better able to appraise the aggressive nature of uterine carcinosarcoma and factors which would help in delaying or preventing recurrence, assess the importance of lymphadenectomy for uterine carcinosarcoma and its effect on survival, and evaluate various recent trials addressing the chemo-radiotherapeutic combinations as adjuvant therapy.

Lung: Pleuropulmonary blastoma

Note Pleuropulmonary blastoma is a rare aggressive malignant tumor of infancy and early childhood. The tumor arises in the lung and pleura and is regarded as a pulmonary dysontogenetic or embryonic neoplasm. It is the pulmonary analog of other tumors of childhood including Wilms' tumor, neuroblastoma, hepatoblastoma, pancreatoblastoma, and retinoblastoma. Synonyms include embryonal rhabomyosarcoma arising in congenital bronchogenic cyst, rhabdomyosarcoma arising in congenital cystic adenomatoid malformation, pulmonary sarcoma arising in mesenchymal cystic hamartoma, pulmonary blastoma associated with cystic lung disease of childhood.

Adrenocortical carcinoma presenting as varicocele and renal vein thrombosis: a case report

IntroductionAdrenocortical carcinomas are rare aggressive tumors. Their annual incidence is approximately one to two per million among the population of the United States of America. Patients with active endocrine tumors often present with Cushing's syndrome accompanied by virilizing features. Conversely, patients with non-functioning tumors may present with symptoms related to a mass-occupying lesion, such as abdominal pain and flank pain. Although varicoceles and acute kidney injuries are common problems in medicine, they are uncommon presentations of these rare tumors and easy to miss. We report a case of a large adrenocortical carcinoma that presented as testicular pain, varicocele, and acute kidney injury secondary to renal vein thrombosis.Case presentationA 54-year-old Caucasian man with a left-sided varicocele presented to our emergency department with lower abdominal pain and a decrease in urination. Four months previously, he had noticed pain and swelling in his left groin and had been diagnosed with left-sided varicocele. For one week, he began developing left-sided abdominal pain and decreased urination frequency, so he came to our emergency department for evaluation. His physical examination revealed a hard mass occupying the entire left side of his abdomen, crossing the midline, and extending to the pelvic brim. His blood tests showed acute kidney injury and mild anemia. Computed tomography of his abdomen showed a large retroperitoneal mass on the left side, displacing the left kidney inferiorly and the spleen superiorly with thoracic epidural compression. Thrombus was also identified in his left renal vein and inferior vena cava. Computed tomography of his chest showed bilateral pulmonary nodules. A computed tomography-guided abdominal mass biopsy was performed, and the diagnosis of adrenocortical carcinoma was made on the basis of pathology and immunohistochemistry. His hormonal evaluations were normal. His kidney function improved with intravenous hydration and anti-coagulation treatment. Unfortunately, the adrenal mass was unresectable because of the extent of the tumor. Treatment with mitotane, an adrenocorticolytic drug, was started with concomitant with irradiation of a lesion at T5, followed by combination chemotherapy thereafter.ConclusionUnilateral right-sided varicoceles are rare and should alert the clinician to possible underlying pathology causing inferior vena caval obstruction. Left-sided varicoceles, in contrast, are common secondary to the venous anatomy of the left testis; however, the enlargement of the left testicle can be associated with blockage of the left testicular vein by tumor invasion of the left renal vein. Varicoceles could be an early presentation of a non-functioning adrenocortical carcinoma. Acute kidney injury can occur as a result of mass effect or thrombosis of renal vessels. Large tumors can cause abdominal pain as a late manifestation. Physicians should perform a complete abdominal examination in every patient with varicocele or testicular pain.

Diagnostic pitfall in the diagnosis of mesenchymal chondrosarcoma arising in the central nervous system

Mesenchymal chondrosarcoma is a rare aggressive neoplasm typically affecting the bones of young adults. It may also arise in somatic soft tissue, the CNS and other organs. It has a characteristic biphasic histological pattern composed of highly undifferentiated small round cells and islands of well-differentiated hyaline cartilage. We report a case of mesenchymal chondrosarcoma arising from the right tentorium cerebelli in a 21-year-old woman with symptoms relating to mass effect. Histological examination demonstrated a purely small round cell appearance in a specimen obtained during partial resection at an outside institution, leading to an erroneous diagnosis of Ewing sarcoma/primitive neuroectodermal tumor (PNET). The diagnosis of mesenchymal chondrosarcoma was made only after tissue obtained during a definitive complete macroscopic removal involving the regional tentorium cerebelli, transverse and sigmoid dural venous sinuses which showed a prominent cartilaginous component. We discuss the features of mesenchymal chondrosarcoma arising in the CNS, the important differential diagnoses of small round-cell tumors within the CNS, and the differentiating features of mesenchymal chondrosarcoma from Ewing sarcoma/PNET, medulloblastoma, hemangiopericytoma, monophasic synovial sarcoma and atypical teratoid/rhabdoid tumour.

Anaplastic and Poorly Differentiated Thyroid Carcinoma: Therapeutic Strategies and Treatment Outcome of 52 Consecutive Patients

Anaplastic thyroid carcinoma (ATC) is one of the most lethal malignancies; poorly differentiated thyroid carcinoma (PDTC) is a new diagnosis for rare aggressive thyroid tumours. Surgery is often considered the only chance for survival, but the benefit of surgery and subsequent multimodal therapy is unclear. We retrospectively analyzed the outcome of 44 ATC and 8 PDTC consecutive patients treated at Helsinki University Central Hospital between 1990 and 2008. All ATC and PDTC cases were re-examined and reclassified histologically. Median survival was only 3.1 months for ATC, but 3.7 years for PDTC. Most patients in both groups eventually died of cancer. ATC patients were older than PDTC patients (74 vs. 66 years). Nodal and distant metastases had a negative impact on survival (ATC; p = 0.038, p = 0.008). Long-term survivors in both groups were stage N0M0 at presentation. Multimodal therapy was successful for 9 (20%) ATC patients, and their median survival was the longest (11.6 months) among treatment groups. Most PDTC patients (88%) underwent total thyroidectomy followed by radioiodine ablation; the only 2 who received chemotherapy survived longest. Although ATC and PDTC are both aggressive thyroid carcinomas, multimodal therapy for both can provide a chance of prolonged survival in patients with locoregional disease.

Characteristics of human Ewing/PNET sarcoma models

Ewing/PNET (peripheral neuroepithelioma) tumors are rare aggressive bone sarcomas occurring in young people. Rare-disease clinical trials can require global collaborations and many years. In vivo models that as accurately as possible reflect the clinical disease are helpful in selecting therapeutics with the most promise of positive clinical impact. Human Ewing/PNET sarcoma cell lines developed over the past 45 years are described. Several of these have undergone genetic analysis and have been confirmed to be those of Ewing/PNET sarcoma. The A673 Ewing sarcoma line has proven to be particularly useful in understanding the biology of this disease in the mouse. The chromosomal translocation producing the EWS/FLI1 fusion transcript characterizes clinical Ewing sarcoma. Cell lines that express this genetic profile are confirmed to be those of Ewing sarcoma. The A673 Ewing sarcoma line grows in culture and as a xenograft in immunodeficient mice. The A673 model has been used to study Ewing sarcoma angiogenesis and response to antiangiogenic agents. Many Ewing sarcoma clinical specimens express the cell surface protein endosialin. Several Ewing sarcoma cell lines, including the A673 line, also express cell surface endosialin when grown as subcutaneous tumor nodules and as disseminated disease; thus the A673 is a useful model for the study of endosialin biology and endosialin-directed therapies. With the advent of tools that allow characterization of clinical disease to facilitate optimal treatment, it becomes imperative, especially for rare tumors, to develop preclinical models reflecting disease subsets. Ewing PNET sarcomas are a rare disease where models are available.

XRCC1 and ERCC1 variants modify malignant mesothelioma risk: A case–control study

Malignant pleural mesothelioma (MPM) is a rare aggressive tumor associated with asbestos exposure. The possible role of genetic factors has also been suggested and MPM has been associated with single nucleotide polymorphisms (SNPs) of xenobiotic and oxidative metabolism enzymes. We have identified an association of the DNA repair gene XRCC1 with MPM in the population of Casale Monferrato, a town exposed to high asbestos pollution. To extend this observation we examined 35 SNPs in 15 genes that could be involved in MPM carcinogenicity in 220 MPM patients and 296 controls from two case–control studies conducted in Casale (151 patients, 252 controls) and Turin (69 patients, 44 controls), respectively. Unconditional multivariate logistic regression was used to estimate odds ratios (ORs) and 95% confidence intervals (95% CIs). Two DNA repair genes were associated with MPM, i.e. XRCC1 and ERCC1. Considering asbestos-exposed only, the risk increased with the increasing number of XRCC1-399Q alleles (Casale: OR = 1.44, 95%CI 1.02–2.03; Casale + Turin: OR = 1.34, 95%CI 0.98–1.84) or XRCC1 −77T alleles (Casale + Turin: OR = 1.33, 95%CI 0.97–1.81). The XRCC1-TGGGGGAACAGA haplotype was significantly associated with MPM (Casale: OR = 1.76, 95%CI 1.04–2.96). Patients heterozygotes for ERCC1 N118N showed an increased OR in all subjects (OR = 1.66, 95%CI 1.06–2.60) and in asbestos-exposed only (OR = 1.59, 95%CI 1.01–2.50). When the dominant model was considered (i.e. ERCC1 heterozygotes CT plus homozygotes CC versus homozygotes TT) the risk was statistically significant both in all subjects (OR = 1.61, 95%CI 1.06–2.47) and in asbestos-exposed only (OR = 1.56, 95%CI 1.02–2.40). The combination of ERCC1 N118N and XRCC1 R399Q was statistically significant (Casale: OR = 2.02, 95%CI 1.01–4.05; Casale + Turin: OR = 2.39, 95%CI 1.29–4.43). The association of MPM with DNA repair genes support the hypothesis that an increased susceptibility to DNA damage may favour asbestos carcinogenicity.

Primary Cutaneous Epithelioid Angiosarcoma

Epithelioid angiosarcomas are rare aggressive neoplasms that occur most frequently in deep soft tissues. Primary cutaneous lesions are rare, and there are discrepant findings in the literature regarding their behavior. In this study, we report a series of 13 cases of primary cutaneous epithelioid angiosarcoma and analyze their clinicopathologic features. The tumors arising in the conventional settings for cutaneous angiosarcoma (ie, in the head and neck region of elderly patients, and those occurring postradiation or associated with lymphedema) were excluded. Primary cutaneous epithelioid angiosarcoma occurred in adults (mean age, 66 y) with an equal sex distribution, and presented as solitary (n=10) or multiple (n=3) nodules ranging in size from 8 to 80 mm, with a predilection for the limbs (n=10). Histopathologically, the tumors comprised infiltrative sheets of atypical epithelioid cells within the dermis with or without the involvement of the subcutis. Vascular channel formation and intracytoplasmic lumina were seen, at least focally, in most cases. Mitoses were readily identified and necrosis was seen in 40% of the cases. The tumors were immunoreactive for vascular markers, with CD31 and FLI-1 offering the highest sensitivity. Pancytokeratin was positive in two thirds of the cases, and epithelial membrane antigen was positive in one-quarter of the cases. There was rare focal expression of Melan-A (n=2) and smooth muscle actin (n=3). Follow-up information was available for 11 patients. Six patients died of metastatic disease after a median follow-up of 12 months (range, 3 to 36 mo), and 1 patient died of unrelated causes. These findings suggest that primary cutaneous epithelioid angiosarcoma occurring outside the conventional settings of angiosarcoma is a highly aggressive malignant tumor with mortality rates in excess of 55% after 3 years.

Good Clinical Response in a Rare Aggressive Hematopoietic Neoplasm: Plasmacytoid Dendritic Cell Leukemia with No Cutaneous Lesions Responding to 4 Donor Lymphocyte Infusions Following Transplant

Blastic Plasmacytoid Dendritic Cell Neoplasm (BPDCN) is a rare and aggressive malignancy that usually presents with diffuse cutaneous lesions. While a favorable response to therapy occurs in a majority of cases, a sustained long-term response is uncommon. Most patients subsequently relapse within a year. In the following report, we present the case of a 41-year-old woman who has not displayed many of the clinical features traditionally associated with BPDCN. The patient received sporadic chemotherapy treatment over the course of 2 years, before undergoing an allogeneic stem cell transplant. Although she ultimately relapsed following her transplant, her disease has repeatedly returned into remission after donor lymphocyte infusion (DLI). Currently, the patient is in remission following her fourth DLI. We believe that allogeneic transplantation should be considered as front-line therapy for the treatment of this rare malignancy.

耳下腺に生じたＨＥＲ‐２蛋白陽性唾液腺導管癌例

Salivary duct carcinoma (SDC), a rare aggressive salivary gland tumor with poor prognosis first described by Kleinsasser et al. in 1968, histologically resembles invasive mammary ductal carcinoma. A 68-year-old man with painful left parotid swelling and left facial nerve paralysis underwent extended total parotidectomy, ipsilateral modified neck dissection, and postoperative radiotherapy of 50 Gy. Histopathological examination showed cribriform and papillary intraductal growth and comedonecrosis, yielding a diagnosis of parotid gland SDC. Immunohistochemistry showed strong complete membrane staining for human epidermal growth factor receptor 2 (HER-2). HER-2 protein overexpression is reported to be associated with early distant breast cancer metastasis causing its dismal prognosis. Given studies correlating HER-2 protein expression with poor SDC prognosis, further studies are expected to produce biological therapy for SDC targeting this molecule.