Rare Aggressive Tumor Research Articles

Tubulo-lobular carcinoma: An unusual mixed invasive carcinoma of the breast

Tubulo-lobular carcinoma is a rare variant of mammary carcinoma that displays an admixture of invasive tubules and lobular like cells. It accounts for 1% of breast cancers with dual growth pattern of tubular carcinoma and invasive lobular carcinoma. Tubulo-lobular carcinoma appears to be rare aggressive tumour than tubular carcinoma, but with overall good prognosis. Herein we report a case of 60-year-old female with right breast mass since 4 months. Histopathologically proved as Tubulo-lobular carcinoma; an unusual mixed invasive carcinoma o the breast. We highlight the importance of histopathology for diagnosis of such rare tumours of breast in view of its mixed histopathology and uncertain biological behaviour. Hence better understanding of Tubulo-lobular carcinoma would enable pathological diagnosis to be made regularly and accurately.

Rare Tumour - Sebaceous Carcinoma of the Scalp

Sebaceous carcinoma (SC) is a rare carcinoma arising from sebaceous gland divided into ocular and extra ocular. Ocular SC is more common than extra ocular. This tumour has a high incidence of recurrence and metastasis. Due to its rarity, it is often difficult to arrive to a diagnosis. Early diagnosis and treatment is crucial. Definitive diagnosis is only by histopathological examination. We are presenting a case of sebaceous carcinoma arising from the scalp. I. Introduction Sebaceous carcinoma (SC) is a rare aggressive malignant tumour derived from the adnexal epithelium of sebaceous glands. It is most commonly seen in the orbital region(2). Extra orbital sebaceous cell carcinoma is extremely rare which commonly occurs on head and scalp due to the abundant sebaceous glands(3). Most sebaceous gland carcinomas have no obvious aetiology and only a few are associated with Muir-Torre syndrome(MTS). This tumour is thought to arise from sebaceous glands in the skin and thus, may crop up anywhere in the body, where these glands exist including the genitalia. SCtraditionally classified into 2 groups, those arising from the ocular adnexa, particularly the Meibomian glands and glands of Zeiss, and those arising in extra ocular sites(4). Ocular SC represents 0.2% to 0.8% of all eyelid tumours and 1% to 5.5% of all eyelid malignancies(6). It is estimated that approximately 25% of all reported cases of sebaceous carcinoma occur in extra ocular site. It has been reported that more than 70% of sebaceous carcinomas are located in the head and neck regions, where sebaceous glands are most commonly located (5).These tumours have a high incidence of local recurrence and regional metastasis. Earlydiagnosis is crucial in reducing the morbidity and mortality associated with the tumour(6). This is a case report of an elderly manwith a sebaceous carcinoma of the scalp.

Intracranial Dural Based Malign Mesenchymal Neoplasm: Case Report

Dural based sarcoma is a rare aggressive neoplasm arising from the multipotent primitive mesenchymal stem cells of the dura. A 61-year-old male patient presented with complaints of loss of visual acuity in his right eye for 1 week. Neuroimaging revealed a tumour located at the right temporal lobe. The mass was dural-based. Three years ago dural based lesion was seen. In that period radiological diagnosis was meningioma. Within three years, the lesion has grown and radiologically presumed meningioma view has been disappeared. After surgical resection of the mass pathological diagnosis of primary dural based sarcoma was made. As in soft tissue sarcomas, diagnosis is mainly based on light microscopy, while immunohistochemistry can improve accuracy of diagnosis. In this article we would like to highlight two things: one is dural sarcoma and meningioma cannot be distinguished radiologically, and the other is the patient's three-year history

Cutaneous angiosarcoma of head and neck.

Cutaneous angiosarcoma is a rare aggressive tumor of capillary and lymphatic endothelial cell origin. Cutaneous angiosarcoma of the head and neck regions seems to be a distinctive neoplasm with characteristic clinicopathologic features that differ from angiosarcoma in other anatomic locations. Angiosarcoma, regardless of their setting, has a bad prognosis. We presented here a case of 80 years old male, with multiple nontender grouped purple to red hemorrhagic vesicular and bullous lesions over left lower cheek and upper neck area, with bilateral cervical lymph nodes since 1 month. Computed tomography thorax showed nodular opacities in the right upper and midzones. Excisional biopsy showed characterstic “dissection of collagen” with mild nuclear atypia. Immunohistochemistry showed tumor cell positive for CD-31 and Fli-1. Patient died within 1 month of presentation.

Current and future options in the management and treatment of uterine sarcoma

Uterine sarcomas are rare aggressive mesenchymal tumours with limited prognosis. They encompass various histological subtypes such leiomyosarcoma, endometrial stromal sarcoma and undifferentiated sarcomas with different surgical and medical strategies. Current evidence of surgery, adjuvant and palliative therapy is reported.

Adhesion Molecules in Primary Oral Mucosal Melanoma

Primary oral mucosal melanoma is a rare aggressive tumor. Recent studies have demonstrated a correlation between increased tumor invasion and the metastatic phenotype and altered adhesion molecule expression profiles. The present study analyzed the expression of integrins, claudins, and immunoglobulin-like adhesion molecules in oral mucosal melanomas and correlated results with clinical parameters. Immunohistochemical analyses of the expression patterns of these molecules were performed on thirty-five cases of primary oral mucosal melanomas organized in a tissue microarray. The results were correlated with clinical and histological features of the cohort. A number of integrin subunits were negative and this was related with vascular invasion. Positivity of integrin beta-3 and CD166 (activated leukocyte cell adhesion molecule) was statistically associated with extensive vascular invasion (P < 0.05). Lower expression of CD54 (intercellular cell adhesion molecule) was associated with cases with extensive necrosis. Most cases with metastatic disease were negative for CD66 (carcinoembryonic antigen-related cell adhesion molecule). Several subunits of claudins were negative and, although not statistically significant, this lack of expression was partially associated with histological factors of poor prognosis. Altered patterns of adhesion molecule expression, mainly integrins and immunoglobulin-like proteins, may participate in the pathogenesis and outcome of oral mucosal melanomas.

Clinical and Pathological Features of Primary Neuroectodermal Tumor/Ewing Sarcoma of the Kidney

To collect and analyze clinical and pathological features of primitive neuroectodermal tumor (PNET)/Ewing sarcoma (EWS), a rare tumor occurring most commonly in bone and soft tissues of young people, which rarely occurs as a primary renal neoplasm and exhibits highly aggressive biological behavior. All cases of PNET/EWS published from 1975 to February 2012 were collected. When available, clinical and pathological data were extracted for each case. Survivals were estimated with the Kaplan-Meier method and compared with the log-rank test with 95% confidence interval (CI). A total of 116 cases were found. All patients had clinical symptoms as first presentation of disease such as pain (54%), hematuria (29%), and bulky renal mass (28%). Sixty-six percent of patients had stage IV disease at diagnosis. Median disease-free survival (DFS) was 5.0 months (95% CI 2.4-7.6). The probability to be alive at 18 months was 60% and 85% for patients with metastatic disease (M1) or not (M0) at diagnosis, respectively. Median overall survival (OS) was 24 months (95% CI 4.5-15.1) in patients with M1 disease, whereas it was not reached in patients with M0 disease (P <.001). In patients with M0 disease, 50% received neoadjuvant chemotherapy and the 12-month OS was 93% compared to 75% of untreated patients (P = .092). In patients with M1 disease who underwent treatment, the median progression-free survival (PFS) was 22.0 months (95% CI 17.9-26.1) with a clinical benefit in 74% of cases. Our findings suggest that PNET/EWS is a rare aggressive tumor affecting principally young people, with a poor prognosis for patients with M1 disease; chemotherapy is an effective strategy in M1 disease and probably also in M0 disease.

Unique clinicopathological features of metaplastic breast carcinoma compared with invasive ductal carcinoma and poor prognostic indicators

BackgroundMetaplastic breast carcinoma is a rare aggressive malignant neoplasm. The purposes of this study are to review the pathologic features and clinical outcomes of metaplastic breast carcinoma compared to invasive ductal carcinoma and to evaluate the prognosis of metaplastic breast carcinoma.MethodsThe cases of 55 patients with metaplastic breast carcinomapresenting between 1991 and 2006 were analyzed and compared to the cases of 767 age-matched patients with invasive ductal carcinoma from the same time period.ResultsThe group of patients with metaplastic breast carcinoma presented with a larger tumor size, lower lymph node involvement, higher percentage of triple-negative (estrogen receptor-, progesterone receptor- and human epidermal growth factor receptor-2-negative) cases, and Ki-67 over-expression compared with the group of patients with invasive ductal carcinoma and triple-negative invasive ductal carcinomas. Patients in the metaplastic breast carcinoma group tended to have more local (often chest wall) recurrences (P = 0.038) and distant (often lung) metastases (P = 0.001) than those in the invasive ductal carcinomas group. The prognosis of metaplastic breast carcinoma was poorer than that of invasive ductal carcinoma and triple-negative invasive ductal carcinomas; the 5-year overall survival rate was 54.5% in metaplastic breast carcinoma versus 85.1% in invasive ductal carcinoma, and 73.3% in triple-negative invasive ductal carcinomas (P <0.001). The 5-year disease-free survival rate was 45.5% in metaplastic breast carcinoma versus 71.2% in invasive ductal carcinoma, and 60.3% in triple-negative invasive ductal carcinomas (P <0.001). Multivariate analysis revealed tumor size larger than 5.0 cm, lymph node involvement and Ki-67≥14% were significantly related to 5-year overall survival (P = 0.010; P = 0.010; P = 0.035) and 5-year disease-free survival (P = 0.020; P = 0.018; P = 0.049).ConclusionsMetaplastic breast carcinoma shows a poorer prognosis than both invasive ductal carcinoma and triple-negative invasive ductal carcinomas. Tumor size larger than 5.0 cm, lymph node involvement and Ki-67 ≥14% indicate a poor prognosis in patients with metaplastic breast carcinoma.

Genetic variants associated with increased risk of malignant pleural mesothelioma: a genome-wide association study.

Asbestos exposure is the main risk factor for malignant pleural mesothelioma (MPM), a rare aggressive tumor. Nevertheless, only 5–17% of those exposed to asbestos develop MPM, suggesting the involvement of other environmental and genetic risk factors.To identify the genetic risk factors that may contribute to the development of MPM, we conducted a genome-wide association study (GWAS; 370,000 genotyped SNPs, 5 million imputed SNPs) in Italy, among 407 MPM cases and 389 controls with a complete history of asbestos exposure. A replication study was also undertaken and included 428 MPM cases and 1269 controls from Australia.Although no single marker reached the genome-wide significance threshold, several associations were supported by haplotype-, chromosomal region-, gene- and gene-ontology process-based analyses. Most of these SNPs were located in regions reported to harbor aberrant alterations in mesothelioma (SLC7A14, THRB, CEBP350, ADAMTS2, ETV1, PVT1 and MMP14 genes), causing at most a 2–3-fold increase in MPM risk. The Australian replication study showed significant associations in five of these chromosomal regions (3q26.2, 4q32.1, 7p22.2, 14q11.2, 15q14).Multivariate analysis suggested an independent contribution of 10 genetic variants, with an Area Under the ROC Curve (AUC) of 0.76 when only exposure and covariates were included in the model, and of 0.86 when the genetic component was also included, with a substantial increase of asbestos exposure risk estimation (odds ratio, OR: 45.28, 95% confidence interval, CI: 21.52–95.28).These results showed that genetic risk factors may play an additional role in the development of MPM, and that these should be taken into account to better estimate individual MPM risk in individuals who have been exposed to asbestos.

A case report of adrenocortical carcinosarcoma with oncocytic and primitive neuroectodermal-like features

Adrenocortical carcinosarcomas are rare aggressive neoplasms; only a few have been reported to date, all with dismal prognosis. These were reported as having varying morphology. We have encountered a case of adrenal carcinosarcoma with an undifferentiated component bearing similarities to primitive neuroectodermal tumors and other areas of oncocytic differentiation. The 48-year-old woman patient presented with abdominal pain and unintended, excessive weight loss. Computed tomographic imaging revealed a tumor located adjacent to the liver and kidney necessitating a partial nephrectomy and hepatectomy. Histologically, the tumor exhibited malignant features. Melan-A, inhibin, calretinin, cytokeratin AE1/AE3, synaptophysin, and neuron-specific enolase were positive immunohistochemically. The patient developed metastasis within 2 months of surgery and is currently alive with disease after chemotherapy. Adrenal carcinosarcoma is a rare highly aggressive malignancy with a wide morphologic spectrum. Recognition of variant morphology and applying correct immunohistochemical studies will aid in reaching an accurate diagnosis.

Embryonic paratesticular rhabdomyosarcoma: a case report

IntroductionAn embryonic paratesticular rhabdomyosarcoma is a very rare mesenchymal tumor. It is an intrascrotal tumor that is localized in paratesticular structures such as the epididymis or spermatic cord. Rhabdomyosarcoma is most often observed in children and adolescents, presenting as a painless scrotal mass.Case presentationOur patient was an 18-year-old Moroccan man who presented with a painless left scrotal mass that had evolved over four months. An inguinal orchiectomy was performed. A histological examination of the excised tissue revealed an embryonic rhabdomyosarcoma.Our patient had three sessions of chemotherapy with vincristine, actinomycin C and cyclophosphamide. Each chemotherapy session was conducted over five days, with a cycle of 21 days. Our patient was assessed two months after the last chemotherapy session and demonstrated good clinical improvement.ConclusionParatesticular rhabdomyosarcoma is a rare aggressive tumor manifesting in children and very young adults. Localized forms have a good prognosis whereas metastatic tumors show very poor results. A well-defined treatment based on surgery and chemotherapy yields good results.

Adrenocortical Carcinoma: Update of Clinical Features and Diagnosis

Adrenocortical carcinomas represent about 0.02% of all malignant tumors. They can be either non-functional being incidentally diagnosed but large functional or non-functional tumors weighing above four kilos were also described. In this review we intended to correlate our experience in field of adrenocortical carcinoma with the literature data and to present our vision about their histogenetic aspects, the prognostic factors and molecular examinations in the field. The histological characteristics in routine Hematoxylin and Eosin stain were analyzed in relationship to the immunohistochemical antibodies such as Inhibin, Melan-A, HMB45, Keratin, Ki67, Synaptophysin, Chromogranin, Calretinin, Neuron specific enolase (NSE), RET, CD56, Vimentin, Epithelial Membrane Antigen (EMA). The histological subtypes such as myoxoid carcinoma and also the possible associated-lipomatous metaplasia, together with the differential diagnosis and the metastatic behavior, based on the newest data published in literature, were also discussed. The main purpose of the review was to present the clinico-pathological complexity of this rare but challenging and aggressive tumor.

Granulocyte‐colony stimulating factor‐producing cervical cancers treated with carbon‐ion irradiation

Granulocyte-colony stimulating factor (G-CSF)-producing tumor is a rare condition. It has an aggressive nature and shows resistance to conventional treatments. We report two cases of G-CSF-producing uterine cervical cancer who were successfully treated with carbon-ion radiotherapy (C-ion RT). The first case was a 76-year-old woman with stage IIIB uterine cervical cancer, and the second was a 75-year-old woman with bulky stage IIB disease. Prior to treatment, both patients presented severe granulocytosis and elevated serum G-CSF concentrations. After C-ion RT, their cervical tumors completely disappeared, and their granulocytosis and elevated serum G-CSF levels improved as well. C-ion RT has been reported to be effective for various aggressive tumors, and it may be a good treatment option for this rare aggressive tumor.

Malignant peritoneal mesothelioma: Two cases and literature review

Malignant peritoneal mesothelioma (MPM) is a rare aggressive tumor arising from the mesothelial lining of the peritoneum. Only 20 to 30% of all mesotheliomas arise from the peritoneum itself. In the present paper, 2 cases of MPM were discussed, in light of the literature review. One of the cases is a 73 years old male admitted with complaints of abdominal swelling and ascites. Peritoneal biopsy was reported as epitheloid malignant mesothelioma. Further radiologic examination revealed that it was primarily of peritoneal origin. He was evaluated as inoperable. After the completion of systemic chemo, he is still on follow-up with stable disease on 10th month of diagnosis. The second case is a 51 years old female with a familial history of mesothelioma with the complaints of abdominal pain and weight loss. Because of the diffuse peritoneal carcinomatosis, she was diagnosed as inoperable peritoneal mesothelioma and after the start of chemotherapy she got clinically worse and died. MPM is a highly lethal neoplasm and given the rarity, it is difficult to obtain precise information regarding incidence, history and optimal management. Treatment approaches have traditionally been largely unsuccessful in this disease, but newer techniques are promising. Key words: Peritoneal, mesothelioma, treatment.

English

Blastic dendritic plasmacytoid cell neoplasm is a rare aggressive tumor of plasmacytoid dendritic cells. We report a 38-year-old female with nodular skin lesions on both legs at presentation which on immunohistochemical staining were CD4+ and CD56+ responding to blastic plasmacytoid dendritic cell neoplasm. Five months later the bone marrow analysis showed infiltration with 80% blasts which on flowcytometry had the immunophenotype suggesting acute myelomonocytic leukemia. Additional staining of skin lesions with CD123 was negative excluding blastic dendritic plasmacytoid cell neoplasm and suggesting the diagnosis of leukemia cutis. The patient achieved a complete remission after first course of standard induction chemotherapy, but relapsed 2 months later with leukemic manifestations and skin lesions. She died 13 months after initial diagnosis. This case illustrates the significance of immunophenotyping in&nbsp;differential diagnosis of blastic plasmacytoid dendritic cell neoplasm and myeloid leukemia cutis. &nbsp; Key words:&nbsp;CD4+/CD56+ blastic plasmacytoid dendritic cell neoplasm, leukemia cutis, acute myelomonocytic leukemia, immunohistochemistry.

2-[18F]fluoro-2-deoxy-D-glucose ([18F]FDG) positron emission tomography for the diagnosis and treatment of Burkitt lymphoma

Background/Objective: Burkitt lymphoma, a form of non Hodgkin lymphoma, is a rare aggressive mature B-cell neoplasm with a favorable prognosis. The objective of this article is to demonstrate that the prompt diagnosis and the application of effective treatments of Burkitt lymphoma is facilitated by the efficacious use of 2-[18F]fluoro-2-deoxy-D-glucose positron emission tomography. Case Report: A 45-year-old man presented with pain in and around his joints and his bones. After multiple inconclusive diagnostic procedures, a 2-[18F]fluoro-2-deoxy-D-glucose positron emission tomography scan was obtained revealing diffuse intense radiotracer activity throughout the skeletal system with multiple areas of photopenia in multiple vertebral spine levels and the posterior iliac crest. Subsequent bone marrow biopsy showed a high Ki-67 proliferative index consistent with Burkitt lymphoma. Conclusions: This case report is of interest to all clinicians who may evaluate adults with pain in and around joints and bones. Burkitt lymphoma merits inclusion in the differential diagnosis of pain in and around joints and bones in adults. Utilization of 2-[18F]fluoro-2-deoxy-D-glucose positron emission tomography will facilitate the prompt diagnosis of Burkitt lymphoma and the application of effective interventions.

Desmoplastic small round cell tumour: the radiological, pathological and clinical features

ObjectivesDesmoplastic small round cell tumours (DSRCTs) are rare aggressive tumours of young adults that present late and have poor prognosis. This review discusses distinctive radiological features, histopathology and clinical course of this soft-tissue sarcoma.MethodsFrom 1991 to 2012, the radiology of 20 patients with pathologically proven DSRCT was independently reviewed by two experienced radiologists. The clinical presentation, treatment and outcome were recorded.ResultsPatients: 16 men, four women; mean age 28.3 years. Computed tomography (CT) demonstrated peritoneal/omental masses without an organ of origin (94 %), with the majority of cases demonstrating large (>5 cm) dominant soft-tissue deposit (80 %) with multiple smaller foci. CT and magnetic resonance imaging (MRI) typically demonstrated heterogeneous soft-tissue enhancement with cystic degeneration. A minority (20 %) demonstrated calcification. Lymph node enlargement occurred in 50 % of cases. Distant metastatic disease occurred in 25 %. Painful abdominal masses were clinically predominant. Treatment strategies include combination chemotherapy with debulking surgery and/or radiotherapy. Median survival from diagnosis was 22.8 months.ConclusionFeatures of multifocal peritoneal/omental masses, usually in combination with a dominant soft tissue deposit, are distinctive in this rare sarcoma. CT/MRI defines the extent of disease and characterises supporting imaging findings. Prolific desmoplastic reaction histologically separates DSRCT from similar subtypes. Combination treatment strategies can infer a survival benefit but prognosis remains poor.Teaching Points• DSRCTs are rare tumours of young adults (mean age 28.3 years) with a male predominance (4:1). • Painful abdominal masses clinically predominate. Non-specific features of malignancy can be present. • Multifocal peritoneal masses with a dominant soft tissue lesion is a distinctive imaging finding. • A large desmoplastic reaction differentiates DSRCTs from histologically similar round cell subtypes. • Despite debulking surgery with adjuvant chemotherapy, median survival from diagnosis is 22.3 months.

English

Neuroendocrine carcinoma of the head and neck are rare aggressive tumors and pose a diagnostic challenge. Differentiation from nasopharyngeal malignancies is difficult due to similar morphological characteristics and small biopsy specimen. Distinguishing is important because of difference in natural history, prognosis and treatment among these neoplasms. We report a 60 year old man with small cell neuroendocrine carcinoma of nasal cavity. Histology reveals highly cellular tumor with small nuclei with stippled chromatin pattern and scanty cytoplasm. Immuno-histochemical stain showed positivity for chromogranin A and cytokeratin, confirmed our diagnosis. INTRODUCTION: Small cell neuroendocrine carcinoma is a rare malignancy of the head and neck. It represents 0.5-1% of epithelial cancers of head and neck region. The 2005 World Health Organisation classification of Head and Neck Tumors categorizes these neoplasms as typical carcinoid tumor, atypical carcinoid tumor, small cell carcinoma neuroendocrine type (SNEC) and neuroendocrine carcinoma otherwise specified. 1,2,3 Patients with neuroendocrine malignancies usually present with locally advanced disease. These neoplasms can not generally be distinguished based on clinical or radiological criteria and hence require histopathological evaluation and further immunohistochemical confirmation of neuroendocrine differentiation. It should be differentiated from other sinonasal tumors like esthesioneuroblastoma (ENB), sinonasal undifferentiated carcinoma (SNUC) and lymphomas.4,5

Cutaneous Epithelioid Clear Cells Angiosarcoma in a Young Woman with Congenital Lymphedema

Angiosarcomas are rare aggressive neoplasms that can occur secondary to chronic lymphedema (Stewart-Treves syndrome). Although secondary angiosarcomas are commonly described after-mastectomy and/or after-radiotherapy, few cases have been reported in association with chronic lymphedema of congenital origin. We report the clinical, pathological, and cytogenetic findings in a case of cutaneous epithelioid clear cells angiosarcoma that occurred in a 21-year-old woman with hemibody congenital lymphedema. Surgical biopsies of the tumor mass revealed diffuse epithelioid proliferation of clear atypical cells, for which immunophenotyping highlighted the vascular differentiation. Despite en bloc resection of the tumor, the patient died of metastatic disease three months after diagnosis. This case illustrates the clinical and pathology characteristics of angiosarcoma that is a rare entity secondary to chronic lymphedema. It is the first reported case for which the c-MYC amplification status was assessed. The diagnostic value of this amplification should be further evaluated in this specific context.

Intraoral malignant melanoma

Primary oral mucosal melanoma is a rare aggressive neoplasm and accounts for only 0.2-8% of all reported melanomas. It is a malignant neoplasm of melanocytes that may arise from a benign melanocytic lesion or de novo from melanocytes within normal skin or mucosa. It is considered to be the most deadly and biologically unpredictable of all human neoplasms, having the worst prognosis. In this article, we report a case of oral melanoma in a 52-year-old female patient with a chief complaint of black discolouration of the maxillary gingiva and palate.