Variant Of Tumor Research Articles

Mucinous cystadenocarcinoma of the breast: the challenge of diagnosing a rare entity.

Mucinous cystadenocarcinoma is an extremely rare variant of primary breast tumor which is histologically similar to mucinous cystadenocarcinoma of the ovary and pancreas. Herein we report a case of a 63 years old woman diagnosed with diverse histological types of non-synchronous rare primary breast tumors, a medullary carcinoma of the right breast and a mucinous cystadenocarcinoma of the left breast. Macroscopically the neoplasm appeared multilocular filled with mucoid material. Under light microscopy the cystic areas were lined by columnar cells with abundant intracellular and extracellular mucin. Solid areas were composed of tall columnar cells with intracellular mucin. Moderate to marked atypia was noticed and tumor cells stained positive for cytokeratin 7 and negative for cytokeratin 20. Moreover tumor cells displayed a basal like immunophenotype expressed as followed: ER negative, PR negative, HER-2 negative, cytokeratin (CK5/6) positive and EGFR positive.

A Rare Variant of High-Grade Neuroendocrine Tumor in a Healthy African American Male

Neuroendocrine tumors (NET) are a set of rare tumors composed of glandular endocrine cells typically found in the pancreas, intestine, or lungs. However, the incidence of NET is growing, from 2.48 to 2.586 per 100,000 per year. This growing prevalence stresses the importance in making NET a part of the differential for gastrointestinal (GI) symptoms. Neuroendocrine cells comprise of glandular endocrine cells that reside in the epithelial lining of the GI tract. Classified as either high grade or low grade, NETs are a disruption of these cells. In this case, we present a male with a rare variant of high grade NET. A 51 year old African American male with a past medical history of hypertension and benign prostatic hyperplasia presents to Larkin Community Hospital with abdominal pain for 6 weeks. He complained of constipation for one month with melena, hematochezia, nausea, and abdominal pressure with eating. Abdominal imaging showed multiple heterogeneous retroperitoneal and mesenteric lymph nodes with central hypodensities and rim enhancements, moderate thickening of the gastric antrum, and pylorus. Pathology of left retroperitoneal lymph nodes showed moderately differentiated carcinoma embedded in fibrous tissue. Tumor cells stained positive for CDX2 and negative for CK20, PSA, TTF1. Colonoscopy revealed a friable, ulcerated lesion in the proximal transverse colon. Biopsy showed an infiltrating high grade/large cell NET similar in morphology to the retroperitoneal lymph node biopsy and fragments of tubulovillous adenoma. Transverse colon resection showed extensive lymphovascular invasion, metastatic carcinoma involving 14/14 lymph nodes with extranodal extension and multiple tumor deposits in pericolonic tissue. NETs are defined based on their anatomic location, such as the pancreas, intestine, or lungs. A positive CDX2 suggests a GI origin and TTF1 suggests a pulmonary origin. NETs are comprised of Kulchitsky cells, which help intestinal motility and secretion. Due to the slow growth rate of NET and nonspecific symptoms, diagnosis is delayed until acute bowel obstruction or liver metastases leading to carcinoid syndrome occurs. Two thirds of NETs are carcinoid tumors and one third are of unknown primary origin including high grade/large cell NET as seen in this case. As a result of increasing NET prevalence, it is now imperative to remember to incorporate NETs in the differential diagnosis of atypical masses to prevent delayed diagnosis and treatment.Figure: A friable ulcerated lesion visualized in the proximal transverse colon.Figure: Another view of the friable ulcerated lesion visualized via colonoscopy.

Morphologic Variants of Epithelial and Neuroendocrine Tumors of the Prostate. The Pathologist's Point of View

Abstract More than 95% of all carcinomas of the prostate are referred to as acinar, microacinar, usual, or conventional type. A minority have been classified as variants. Variants can vary in histologic appearance and divergent differentiation compared with usual acinar adenocarcinoma. Some variants constitute different types of carcinoma and are not adenocarcinomas. Variants that represent a challenge to diagnose include the deceptively benign-looking atrophic, pseudohyperplastic, microcystic, and foamy gland variants. The signet ring-like, pleomorphic giant cell, and sarcomatoid variants have worse prognosis than usual acinar adenocarcinoma. Some variants can occur after therapy, such endocrine and radiation therapy: squamous neoplasms, neuroendocrine tumors, sarcomatoid carcinoma (ie, carcinosarcoma), and pleomorphic giant cell variant. Neuroendocrine prostate cancer is an aggressive variant of prostate cancer that often arises in later stages of castration-resistant prostate cancer.

Fetal rhabdomyomatous nephroblastoma -a variant of Wilms tumor: A case report and review of the literature

Fetal rhabdomyomatous nephroblastoma is a weird variant of Wilms tumor. It’s a chemo-resistant tumor, characterized for invading the collecting system, and having greater rates of bilateral involvement. The tumor chiefly consists of fetal striated muscle with particularly distinct striations and central nuclei, and isolated regions of typical trimorphic nephroblastoma. The following article brings in a new case of this rare pathology, associated with a review of the literature.

Bilateral Thyroid-Type Struma Ovarii in a Postmenopausal Patient: A Case Report and Review of Literature

Struma ovarii is a monodermal variant of a germ cell tumor composed predominantly of thyroid tissue. It is most often unilateral with an incidence of 0.3-0.7%. Bilateral struma ovarii is rather rare with only two cases reported in peri- and postmenopausal patients. Here, we present a third case of bilateral struma ovarii in a postmenopausal female with slowly enlarging pelvic mass and pelvic organ prolapse. The patient was treated with total hysterectomy and bilateral salpingo-oophorectomy which revealed bilaterally enlarged cystically dilated ovaries. Histopathologic examination showed mature thyroid follicles with abundant colloid consistent with bilateral struma ovarii. No teratomatous elements or features of malignancy were identified. Thyroid hormone levels were within their respective reference ranges as was also observed in the previous two cases. A diagnosis of bilateral struma ovarii should be considered in the differential diagnosis of bilateral pelvic masses in peri- and postmenopausal patients. There was no clinical or laboratory evidence of hyperthyroidism in any of the three patients. J Clin Gynecol Obstet. 2017;6(2):45-48 doi: https://doi.org/10.14740/jcgo442w

Are Cystic Pancreatic Neuroendocrine Tumors an Indolent Entity Results from a Single-Center Surgical Series

Introduction: Cystic pancreatic neuroendocrine tumors (CPanNETs) represent an uncommon variant of pancreatic neuroendocrine tumors (PanNETs). Due to their rarity, there is a lack of knowledge with regard to clinical features and postoperative outcome. Methods: The prospectively maintained surgical database of a high-volume institution was queried, and 46 resected CPanNETs were detected from 1988 to 2015. Clinical, demographic, and pathological features and survival outcomes of CPanNETs were described and matched with a population of 92 solid PanNETs (SPanNETs) for comparison. Results: CPanNETs accounted for 7.8% of the overall number of resected PanNETs (46/587). CPanNETs were mostly sporadic (n = 42, 91%) and nonfunctioning (39%). Two functioning CPanNETs were detected (4.3%), and they were 2 gastrinomas. The median tumor diameter was 30 mm (range 10-120). All tumors were well differentiated, with 38 (82.6%) G1 and 8 (17.4%) G2 tumors. Overall, no CPanNET showed a Ki-67 >5%. A correct preoperative diagnosis of a CPanNET was made in half of the cases. After a median follow-up of >70 months, the 5- and 10-year overall survival of resected CPanNETs was 93.8 and 62.5%, respectively, compared to 92.7 and 84.6% for SPanNETs (p > 0.05). The 5- and 10-year disease-free survival rates were 94.5 and 88.2% for CPanNETs and 81.8 and 78.9% for SPanNETs, respectively (p > 0.05). Conclusion: In the setting of a surgical cohort, CPanNETs are rare, nonfunctional, and well-differentiated neoplasms. After surgical resection, they share the excellent outcome of their well-differentiated solid counterparts for both survival and recurrence.

Epithelioid glioblastoma, a newly described rare variant of common tumor describing immunohistochemical expression pattern

Epithelioid glioblastoma, a newly described rare variant of common tumor describing immunohistochemical expression pattern

Using circulating tumor DNA analysis to depict genomic profiles and predict survival outcomes in patients with small-cell lung cancer.

8567 Background: Small-cell lung cancer (SCLC) accounts for approximately 15% of lung cancers. Most patients have extensive-stage disease with widespread metastases and poor survival. Understanding the molecular mutation profile of each SCLC patient would allow precision treatment and improved clinical outcome. However, tumor tissues from surgery are not available for most SCLC patients and biopsy specimens are often have limited quantities. Several studies have provided evidence of circulating tumor DNA (ctDNA) in detecting somatic variants of multiple solid tumors. This study evaluated utility of ctDNA to depict genomic profiles and predict survival outcomes in SCLC patients. Methods: 22 Plasma samples were obtained before initial treatment from 22 patients with SCLC enrolled between 2012 and 2016. Targeted-capture deep sequencing was performed to identify somatic variants in 465 cancer-related genes. Genomic mutation profiles were described and the clinical implications were further analyzed. Results: Tumor DNA can be detected in all 22 plasma samples collected from patients with SCLC. In total, 340 variants were identified, and the mean and median mutation rate were 6.3 and 6.6 per Mb. TP53 and RB1 are the most frequently mutated genes, detected in 90.9% (20/22) and 59.1% (13/22) patients, respectively. Further analysis showed that high ctDNA fraction in cell-free DNA (cfDNA) was associated with heavy tumor burden (R = 0.7, p = 0.0017). Moreover, patients with high ctDNA fractions (ctDNA fraction > = 18.3%) had poor progression free survival (PFS) (HR, 17.2; p = 0.0019). The median PFS of patients with high versus low ctDNA fractions was 5.2 months (95% CI 4.6 to 5.8 months) versus 10.0 months (95% CI 9.3 to 10.7 months), respectively. Conclusions: In this study, ctDNA analysis offers a promising way to depict the molecular profile in patients with SCLC. Moreover, these findings highlight the potential clinical utility of ctDNA to predicate clinical outcome in SCLC.

Spontaneous Peripheral Ameloblastic Odontoma in a Male Sprague-Dawley Rat

Peripheral ameloblastic odontoma is a rare variant of odontogenic tumor occurring in the extraosseous region. The present report describes a spontaneous tumor in male Sprague-Dawley (SD) rats. The clinically confirmed nodule in the right mandibular region was first observed when the rat was 42 weeks and remained until the terminal sacrifice date when the animal was 48 weeks of age. At necropsy, a well demarcated nodule, approximately 2.5 × 2.0 × 2.0 cm, protruded from the ventral area of the right mandible. The nodule was not attached to mandibular bone and was not continuous with the normal teeth. Histopathologically, the tumor was characterized by the simultaneous occurrence of an ameloblastomatous component and composite odontoma-like elements within the same tumor. The epithelial portion formed islands or cords resembling the follicle or plexiform pattern typical of ameloblastoma and was surrounded by mesenchymal tissue. Formation of eosinophilic and basophilic hard tissue matrix (dentin and enamel) resembling odontoma was observed in the center of the tumor. Mitotic figures were rare, and areas of cystic degeneration were present. Immunohistochemically, the epithelial component was positive for cytokeratin AE1/AE3 (CK AE1/AE3), and the mesenchymal component and odontoblast-like cells were positive for vimentin, in the same manner as in normal teeth. On the basis of these findings, the tumor was diagnosed as a peripheral ameloblastic odontoma in an extraosseous mandibular region in a SD rat. In the present study, we report the uncommon spontaneous peripheral ameloblastic odontoma in the SD rat. We also discuss here the morphological characteristics, origin, histochemical, and immunohistochemical features for the diagnosis of this tumor.

SF3B1 and BAP1 mutations in blue nevus-like melanoma.

Blue nevi are melanocytic tumors originating in the cutaneous dermis. Malignant tumors may arise in association with or resembling blue nevi, so called 'blue nevus-like melanoma', which can metastasize and result in patient death. Identifying which tumors will behave in a clinically aggressive manner can be challenging. Identifying genetic alterations in such tumors may assist in their diagnosis and prognostication. Blue nevi are known to be genetically related to uveal melanomas (eg, both harboring GNAQ and GNA11 mutations). In this study, we analyzed a large cohort (n=301) of various morphologic variants of blue nevi and related tumors including tumors diagnosed as atypical blue nevi (n=21), and blue nevus-like melanoma (n=12), screening for all gene mutations known to occur in uveal melanoma. Similar to published reports, we found the majority of blue nevi harbored activating mutations in GNAQ (53%) or GNA11 (15%). In addition, rare CYSLTR2 (1%) and PLCB4 (1%) mutations were identified. EIF1AX, SF3B1, and BAP1 mutations were also detected, with BAP1 and SF3B1 R625 mutations being present only in clearly malignant tumors (17% (n=2) and 25% (n=3) of blue nevus-like melanoma, respectively). In sequencing data from a larger cohort of cutaneous melanomas, this genetic profile was also identified in tumors not originally diagnosed as blue nevus-like melanoma. Our findings suggest that the genetic profile of coexistent GNAQ or GNA11 mutations with BAP1 or SF3B1 mutations can aid the histopathological diagnosis of blue nevus-like melanoma and distinguish blue nevus-like melanoma from conventional epidermal-derived melanomas. Future studies will need to further elucidate the prognostic implications and appropriate clinical management for patients with tumors harboring these mutation profiles.

Histological Variants of Ovarian Tumour in Bangladeshi Women

Objective: Types of ovarian tumour are widely divergent and no age group is immune from ovarian tumour; but certain ages are more vulnerable to develop certain types of tumours. By far, very few studies describing the histological types and subtypes of ovarian tumour in the context of Bangladeshi population have been conducted. The present study was intended to find the histological variants of ovarian tumours in our women.
 Methods: The present study was carried out in Dhaka Medical College Hospital between July 2001 to June 2002. The total number of patients admitted with a clinical diagnosis of ovarian tumour during the study period was 238, while the total number of gynaecological admissions was 3189. In the present study every alternate patients of ovarian tumour who consented to participate in the study were included as long as 110 cases were met. After admission, history and clinical presentation were recorded and every case was followed till discharge. Provisional diagnosis was made clinically and by ultrasound when 14 cases were excluded for they did not have ovarian tumour at all. The remaining 96 cases were operated and were confirmed by operative and histopathological findings.
 Results: In the present study proportion of ovarian tumours was 6.52% of all gynecological admissions. The mean age of the patients was found to be 39.5 ± 6.3 years. The peak age incidence of benign ovarian tumors was found to lie between 21-50 years. Malignant ovarian tumors, however was found more commonly after the age of 50 years. After histopathological confirmation of the precise nature of the 96 ovarian tumors, it was found that benign tumour comprised 77% of the cases with malignant tumors occurring in the rest 23%. Among them tumours of epithelial origin formed 70.8% of all ovarian tumors, germ cell tumors 25% and sex-cord stromal tumours made up 4.2%. Among the epithelial tumors, serous tumors were most frequently seen (61.7%), followed by mucinous tumors (35.3%). The percentage of benign serous cystadenomas was 35.5%. The ratio between serous and mucinous cystadenocarcinoma was almost 2:1. Germ cell tumour found in this study was of moderate frequency (25%). Among them 15.6% were mature teratoma (dermoid cyst) followed by 5.2% dysgerminoma. Endodermal sinus tumors were relatively low (3.1%) and there was a case of immature or malignant teratoma. Sex-cord-stromal tumours were of lowest frequency (4.2%) and classified as ovarian fibroma, granulosa-cell tumor and Krukenberg tumour.
 Conclusion: The study concluded that benign tumour comprised three-quarters of all ovarian tumours with the rest being malignant. Tumours of epithelial origin forms the main bulk, germ cell tumors about one-quarter and sex-cord stromal and metastatic tumors the least. Among the epithelial tumors, serous tumors were most frequently seen, followed by mucinous tumors.
 Ibrahim Card Med J 2015; 5 (1&2): 40-44

EXPERIMENTAL EVIDENCE FOR THE MOST EFFECTIVE MODE OF AEROSOL LAPAROSCOPIC INTRAPERITONEAL CHEMOTHERAPY (PIPAC)

Peritoneal carcinomatosis (PC) is one of metastatic spread variant of malignant tumors, which shows significantly poor prognosis in patients. Pressurized intraperitoneal aerosol chemotherapy (PIPAC) - is a modern regional therapy method for implantation metastases. Currently there are still unresolved issues in native equipment, optimal chemotherapy drugs doses for PIPAC, ability in adjuvant and neoadjuvant application of method and a combination with surgical treatment. Concerning this we carried out series of experimental studies on animal model (rabbits, n=71), which resulted in development of the device for laparoscopy aerosol chemotherapy also with selection of effective and safe PIPAC mode.

Hormone receptor expression profile of low-grade serous ovarian cancers

ObjectiveLow-grade serous ovarian carcinomas (LGSOCs) are a histological subtype of epithelial ovarian tumors, accounting for fewer than 5% of all cases of ovarian carcinoma. Due to the chemoresistant nature of this subtype a search for more effective systemic therapies is actively ongoing, hormonal therapy showing some degree of activity in this clinical setting. The present study ought to investigate the hormone receptor status of LGSOCs, as a strategy to provide molecular support for patient-tailored hormonal treatments. MethodsEstrogen receptor α (ERα), ERβ isoforms (i.e. ERβ1, ERβ2 and ERβ5), progesterone and androgen receptor (PR, AR) expression was evaluated by immunohistochemistry in 25 untreated LGSOC primary tumors, 6 matched metastases and 6 micropapillary variant of serous borderline tumors (micropapillary SBOTs). In vitro cellular models were used to provide insights into clinical observations. ResultsOur results showed prominent expression of nuclear ERα, ERβ2, ERβ5 and PR in LGSOC primary tissues, while metastatic lesions also exhibit considerable cytoplasmic ERβ2 levels. Notably, a higher expression of ERβ1 protein was determined in micropapillary SBOTs compared to LGSOCs. In vitro experiments on LGSOC cell lines (i.e. HOC-7 and VOA-1056) revealed low/absent ERα, PR and AR protein expression, whereas the three ERβ isoforms were all present. Proliferation of HOC-7 and VOA-1056 was not modulated by either the endogenous or the selective synthetic ligands. ConclusionsThese novel findings highlight the need of assessing relative levels of ERα and ERβ isoforms in the total receptor pool in future clinical studies investigating molecular predictors of response to hormonal therapy in LGSOC.

Glomangioma of the knee with no response to sclerotherapy

Glomus tumors are rare usually benign tumors derived from a neuromyoarterial apparatus called the glomus body, which is great in number in the digits and helps to control body temperature. Glomus tumors are usually subungual; however, they have been reported in unusual locations such as viscera and other parts of the extremities. Glomangioma is a variant of glomus tumor and the two entities have minimal histologic differences.We report a case of glomangioma of the knee, which was previously diagnosed as hemangioma approximately 15years ago, and was treated multiple times with sclerotherapy. The tumor recurred each time after the sclerotherapy and started to slowly grow. Finally it was surgically excised and the diagnosis was made based on histopathology.This case demonstrates that glomus tumors should be considered in the differential diagnosis of vascular lesions which recur after sclerotherapy even in locations not typically associated with glomus tumors such as the knee. This possibility supports the benefit of surgical excision in refractory vascular lesions to support both diagnosis and more definitive treatment.

Epigenetic regulation of Wnt/β-catenin signal-associated genes in gastric neoplasia of the fundic gland (chief cell-predominant) type.

Gastric neoplasia of the fundic gland (chief cell-predominant) type (GNCCP) is a rare variant of gastric tumor. This tumor is associated with activation of the Wnt/β-catenin signaling pathway; however, the mechanisms underlying this activation remain unknown. To elucidate potential roles of Wnt/β-catenin signal-associated gene methylation in GNCCP, we performed β-catenin immunostaining and methylation-specific polymerase chain reaction (PCR) for their associated genes, including SFRPs, APC, AXIN2, and MCC, in 26 GNCCPs [i.e., 11 intramucosal (GNCCP-Ms) and 15 submucosal tumors (GNCCP-SMs)], and compared with 27 fundic gland polyps (FGPs), 12 FGPs with dysplasia (FGP-Ds), 27 conventional gastric adenocarcinomas (CGAs). Nuclear β-catenin labeling indices were higher in GNCCPs and CGAs than in FGPs and FGP-Ds. SFRPs, APC, and AXIN2 were more frequently methylated in GNCCPs and CGAs (SFRP1, 88%/96%; SFRP2, 85%/93%; SFRP4, 73%/81%; APC, 81%/81%; AXIN2, 81%/85%; respectively) than in FGPs and FGP-Ds (37%/50%; 41%/42%; 41%/58%; 37%/33%; 41%/50%; respectively). A significant correlation was seen between nuclear β-catenin expression and methylation of SFRP1 in GNCCPs. Furthermore, nuclear β-catenin expression was significantly frequent in high-methylated GNCCPs than in low-methylated tumors. In conclusion, our results suggest that activation of this pathway, mediated by gene methylation, may be associated with progression of some GNCCP cases, similar to CGAs.

18-F-FDG PET-CT in Monitoring of Chemotherapeutic Effect in a Case of Metastatic Hepatic Epithelioid Hemangioendothelioma.

Hepatic epithelioid hemangioendothelioma is a rare variant of mesenchymal tumor. Surgical resection or partial hepatectomy is the treatment of choice in the case of localized disease. However, in metastatic cases, chemotherapeutic drugs targeting the tyrosine kinase are being used. We hereby present 18-F-fludeoxyglucose positron emission tomography-computed tomography findings in a case of a 35-year old woman with metastatic HEHE showing significant response to Sorafenib therapy after 6 months.

Glomangiosarcoma Arising from a Prior Biopsy Site.

Summary:Glomangiosarcoma represents a rare malignant variant of the benign glomus tumor that typically presents as a tender, slowly growing nodule with a predilection for the lower extremities. Unlike their benign counterparts, glomangiosarcomas may display aggressive characteristics such as large size, local invasion, and a tendency to recur after excision. Although wide local excision remains the treatment of choice, rare cases of systemic metastasis have been previously reported. We present a case of glomangiosarcoma arising at a prior biopsy site after excision of an unknown soft tissue lesion.

Giant adrenal myelolipoma: A rare case report and review of literature

Myelolipomas are a rare benign variant of adipose tissue tumors with additional hematopoietic elements. In general, these tumors were discovered accidentally on autopsy with a low incidence. Adrenal gland is the most common site for myelolipoma. We reported a case of giant adrenal myelolipoma (>18 cm) which presented with vague, nonspecific pain which is worth mentioning because of its rarity and huge size.

Vantagens da técnica de quadrantectomia em cadelas com neoplasias mamárias

A great number of surgical procedures have been proposed for the treatment of mammary tumors in bitches; however, few surveys have compared the accuracy of different techniques in dogs. Our study aimed to establish a quadrantectomy clinical and surgical protocol for the treatment of mammary tumors in bitches, similar to those performed in women. Between March 2014 and December 2015, 154 bitches were admitted to the Obstetric Sector of the Veterinarian Hospital of the Rural Federal University of Rio de Janeiro. One hundred and forty-one of those bitches presented different variants of mammary tumors and were treated with surgical procedures. Pre-operational evaluation included tumor staging through the TNM system and assessment of surgical risk. The following agents were used throughout the surgical procedures: Acepromazine 0.2% (0.2 mg/kg, IM) or Diazepam for pre-anaesthesia, a Diisopropylphenol 0.5% (2.0 to 8.0 mg/kg, IV), IM during the general anaesthesia induction, and closed-circuit Isoflurane in the stage of management of anaesthesia. Quadrantectomy was performed as a maneuver to prevent tumor recurrence. The maneuver proved effective due to the 95.5% survival rate, compared to the 90.5% survival rate of right or left unilateral mastectomy and bilateral mastectomy techniques. Quadrantectomy in association with dissection method, surgical drain, and compression bandaging was considered an effective and easily applicable surgical procedure in bitches with mammary tumors&nbsp

The combination of a bifocal germinoma and arteriovenous malformations of the brain in children. Clinical observation and review of the literature

Primary intracranial germ cell tumors are rare heterogeneous group of neoplasms presented several histological types with different biological profile and response to therapy. Pure germinomas make up no more than 5 % of malignant tumors of the central nervous system in children, bifocal germinomas account for only 5–10 % of all germinomas. Radiotherapy and chemotherapy are usually used in intracranial germ cell tumors. The choice of initial therapy options is dependent on the histological variants of tumors, and the prevalence of the process (M-stage). Vascular malformations of the brain is rare in childhood, in a large proportion of cases, which is a random finding and can significantly affect the treatment policy in the presence of a brain disease (eg, neoplasia). We present a rare case of a combination of clinical bifocal germinomas and arteriovenous malformations of the brain in a boy 13 years old