A case report of an extremely rare type of cardiac tumor: Primary Cardiac Angiofibroma

Cardiac angiofibroma is a very rare diagnosis when a patient develops an intracardiac mass. It is a primary benign cardiac tumor with a scarcity of information in the literature. This case report illustrates a 26-year-old man with a complaint of chronic chest tightness who was firstly diagnosed with right ventricle tumor by echocardiography then underwent cardiac MRI which confirmed the presence of a highly-vascular tumor with radiologically benign behavior. Then his tumor was excised, his postoperative course was uncomplicated and he was well within almost 2 months after discharge. Ultimately the histopathologic findings demonstrated vascular and stromal tissue in favor of angiofibroma and excluded the other diagnoses with IHC and trichrome staining. Angiofibroma is a benign, highly vascular tumor, mostly discovered in the nasopharynx. When it is found in the heart, CMR and pathology are pivotal to rule in its diagnosis. It is isointense in T1 weighted and hyperintense in T2 weighted sequences with intense enhancement following contrast injection. Its pathology contains an admixture of vasculatures with CD31 positive immunoreactivity for endothelial cells and fibrotic tissue with bluish coloration in trichrome staining. Eventually, its treatment includes merely surgical excision given its benign nature.

A case report of an extremely rare type of cardiac tumor: Primary Cardiac Angiofibroma

Cardiac angiofibroma is a very rare diagnosis when a patient develops an intracardiac mass. It is a primary benign cardiac tumor with a scarcity of information in the literature. This case report illustrates a 26-year-old man with a complaint of chronic chest tightness who was firstly diagnosed with right ventricle tumor by echocardiography then underwent cardiac MRI which confirmed the presence of a highly-vascular tumor with radiologically benign behavior. Then his tumor was excised, his postoperative course was uncomplicated and he was well within almost 2 months after discharge. Ultimately the histopathologic findings demonstrated vascular and stromal tissue in favor of angiofibroma and excluded the other diagnoses with IHC and trichrome staining. Angiofibroma is a benign, highly vascular tumor, mostly discovered in the nasopharynx. When it is found in the heart, CMR and pathology are pivotal to rule in its diagnosis. It is isointense in T1 weighted and hyperintense in T2 weighted sequences with intense enhancement following contrast injection. Its pathology contains an admixture of vasculatures with CD31 positive immunoreactivity for endothelial cells and fibrotic tissue with bluish coloration in trichrome staining. Eventually, its treatment includes merely surgical excision given its benign nature.

RIPK3 and AXL Expression Study in Primary Cutaneous Melanoma Unmasks AXL as Predictor of Sentinel Node Metastasis: A Pilot Study

Malignant melanoma (MM) is the most lethal skin cancer. AXL is a tyrosine kinase receptor involved in several oncogenic processes and might play a role in blocking necroptosis (a regulated cell death mechanism) in MM through the downregulation of the necroptotic-related driver RIPK3. The aim of this study was to evaluate the clinical impact of the expression of AXL and RIPK3 in 108 primary cutaneous MMs. Association between AXL and RIPK3 immunoreactivity and clinical–pathological variables, sentinel lymph node status, and tumor-infiltrating lymphocytes (TILs) was assessed. Immunoreaction in tumor cells was detected in 30 cases (28%; range, 5%–80%) and in 17 cases (16%; range, 5%–50%) for AXL and RIPK3, respectively. Metastases in the sentinel lymph nodes were detected in 14 out of 61 patients, and these were associated with AXL-positive immunoreactivity in the primary tumor (p < 0.0001). No association between AXL and TILs was found. RIPK3 immunoreactivity was not associated with any variables. A final logistic regression analysis showed Breslow and AXL-positive immunoreactivity as the stronger predictor for positive sentinel node status [area under the receiver operating characteristic curve (AUC) of 0.96]. AXL could be a potential new biomarker for MM risk assessment, and it deserves to be further investigated in larger studies.

Predictive Role of the p16 Immunostaining Pattern in Atypical Cervical Biopsies with Less Common High Risk HPV Genotypes

P16 immunostaining is considered a useful surrogate of transcriptionally active high-risk (hr) HPV infection. Only strong and widespread “block-like” immunoreactivity is considered specific, whereas weak/focal p16 positive immunostaining is considered not specific, and follow-up and HPV molecular detection is not indicated. The aim of the study was to evaluate the presence of HPV DNA and Ki67 immunostaining in 40 cervical atypical biopsies (CALs) with mild and focal histological features suggestive of HPV infection—20 cases with weak/focal p16 positive immunoreactivity and 20 cases negative for p16 expression. In 16/20 weak/focal p16 positive CALs (80%), the INNO-LiPA HPV genotyping detected hrHPV genotypes (HPV 31, 51, 56, 59, 26, 53, 66, 73, and 82). Co-infection of two or more hrHPV genotypes was often evidenced. HPV16 and 18 genotypes were never detected. Ki67 immunostaining was increased in 10/20 cases (50%). In 19/20 p16 negative CALs, hrHPV infection was absent and Ki67 was not increased. These results suggest that weak/focal p16 immunostaining represents the early stage of transcriptionally active infection, strongly related to the presence of less common hrHPV genotypes, probably with a slower transforming power, but with a potential risk of progression if the infection persists. HPV DNA genotyping and follow-up could be useful in these cases to verify if they are able to evolve into overt dysplastic changes and to improve knowledge of less common hrHPV genotypes.

The Importance of HSPA-2 Expression in Laryngeal Squamous Cell Carcinomas

Objective: Laryngeal Squamous Cell Carcinoma (LSCC) has high recurrence, metastasis and mortality rates, thus determining the markers related to prognosis and the methods that can be effective in its treatment are important. Studies have reported that HSPA-2 has an important role in tumor growth but there is a limited number of studies about LSCC. The aim of our study was to examine the relationship between HSPA-2 expression and clinicopathological parameters in LSCC. Material and Methods: HSPA-2 was studied on 57 cases who have been diagnosed with LSCC in the last 7 years. The connection between HSPA-2 expression and important prognostic parameters was investigated. Results: In all of the cases, positive immunoreactivity was determined with HSPA-2. A significant relationship was determined between the HSPA-2 expression and important prognostic parameters such as lymphovascular invasion, lymph nodule metastasis, the primary tumor, the TNM stage, and survival rates. Conclusion: Our study supports the link between high HSPA-2 expression levels and poor prognostic parameters. Therefore we think that HSPA-2 can be used as a prognostic marker in laryngeal cancer. Also, we think that HSPA-2 is important in early diagnosis due to its increased expression even in LSCC precursor conditions. In addition, we believe that treatment regimens based on inhibiting HSPA-2 expression in the early stage of LSCC will be effective.

No correlation between Galectin-3 expression and clinicopathological features of follicular thyroid carcinoma minimally invasive: study in single institution

Background. Galectin-3 has been suggested to involve in invasion and aggressive behaviour of several cancer. The aim of this study is to evaluate the immunoreactivity of Galectin-3 in follicular thyroid carcinoma (FTC) in an attempt to investigate its association with clinicopathology of FTC. Method. This study included 46 selected paraffin embedded tissue blocks from surgically resected follicular thyroid carcinoma minimally invasive, consists of 23 cases of FTC capsular invasion only and 23 cases of FTC encapsulated angioinvasive. Immunohistochemistry staining for Galectin-3 were performed on all cases. Galectin-3 protein expression was observed in the cytoplasm and the nucleus of examined tissues. Result. Forty-three (93.5%) samples had strong or moderate staining and 3 (6.5%) tumours had negative or weak staining. Positive immunoreactivity of Galectin-3 was found in 18/23 (78.3%) cases of FTC capsular invasion only and 20/23 (86.9%) cases of FTC encapsulated angioinvasive. The galectin-3 did not show association with the sex (p=0.345), age (p=0.200), and tumour size (p=0.767). There was no significant difference of Galectin-3 immunohistochemical expression between FTC capsular invasion only and FTC encapsulated angioinvasive (p= 0.699). Conclusion. No differentiation of sex, age, tumour size, and immunohistochemical expression of galectin-3 in capsular invasion only and encapsulated angioinvasive of minimally invasive FTC.

Clinical, histopathologic, and immunohistochemical features of 13 cases of canine gallbladder neuroendocrine carcinoma

In this retrospective descriptive study, we characterized the clinical, histologic, and immunohistochemical features of 13 cases of canine gallbladder neuroendocrine carcinoma (GB-NEC). Immunohistochemical stains for neuroendocrine (neuron-specific enolase [NSE], chromogranin A, synaptophysin) and gastrin markers were evaluated, and clinicopathologic and follow-up data were obtained for all cases. The average age at diagnosis was 8.9 y, and breeds included 6 Boston Terriers, 2 Bichon Frise, 1 Poodle, 1 English Bulldog, 1 French Bulldog, and 2 mixed-breed dogs. Boston Terriers were overrepresented in this cohort, and therefore a breed predilection is possible. Most dogs were presented with emesis and elevated liver enzyme activities: 13 of 13 had elevated alanine aminotransferase and alkaline phosphatase activities; 8 of 13 had elevated aspartate aminotransferase activity; 7 of 13 had elevated gamma-glutamyl transferase activity. Abdominal ultrasound and/or exploratory surgery revealed a gallbladder mass. All neoplasms had similar histologic features and positive immunoreactivity for NSE, chromogranin A, synaptophysin, and gastrin. Vascular invasion was noted in 8 of 13 neoplasms, and metastasis was present in 6 of 13 cases (4 hepatic and 2 pulmonary metastases). The median survival time was 3.7 y in patients who died; 5 of 8 deaths were directly attributed to the GB-NEC, 3 of which had metastatic spread. GB-NECs have the potential to metastasize; however, surgical excision may be curative in a subset of dogs.

Uterine Leiomyosarcoma Associated with Cystic Endometrial Polyps, Chondriod Metaplasia and Uterine Horn Intussusception in a Greater Cane Rat (Thryonomys swinderianus)

A rare case of uterine leiomyosarcoma associated with chondriod metaplasia, cystic endometrial polyps and uterine horn intussusception in a greater cane rat was macroscopically, histopathologically, immuno-histochemically and ultrastructurally evaluated. The histopathological findings for this tumour were similar to those for leiomyosarcomas described in other species. Immunohistochemical examination demonstrated positive immunoreactivity of neoplastic cells with α-smooth muscle actin, desmin and vimentin. Ultrastructurally, nuclear and cytoplasmic features were consistent with leiomyosarcoma. These results revealed the tumour to be of smooth muscle origin. To our knowledge, this is the first reported case of uterine leiomyosarcoma associated with cystic endometrial polyps, chondriod metaplasia and uterine horn intussusception in a greater cane rat.

Immunohistochemistry and Mutation Analysis of SDHx Genes in Carotid Paragangliomas

Carotid paragangliomas (CPGLs) are rare neuroendocrine tumors often associated with mutations in SDHx genes. The immunohistochemistry of succinate dehydrogenase (SDH) subunits has been considered a useful instrument for the prediction of SDHx mutations in paragangliomas/pheochromocytomas. We compared the mutation status of SDHx genes with the immunohistochemical (IHC) staining of SDH subunits in CPGLs. To identify pathogenic/likely pathogenic variants in SDHx genes, exome sequencing data analysis among 42 CPGL patients was performed. IHC staining of SDH subunits was carried out for all CPGLs studied. We encountered SDHx variants in 38% (16/42) of the cases in SDHx genes. IHC showed negative (5/15) or weak diffuse (10/15) SDHB staining in most tumors with variants in any of SDHx (94%, 15/16). In SDHA-mutated CPGL, SDHA expression was completely absent and weak diffuse SDHB staining was detected. Positive immunoreactivity for all SDH subunits was found in one case with a variant in SDHD. Notably, CPGL samples without variants in SDHx also demonstrated negative (2/11) or weak diffuse (9/11) SDHB staining (42%, 11/26). Obtained results indicate that SDH immunohistochemistry does not fully reflect the presence of mutations in the genes; diagnostic effectiveness of this method was 71%. However, given the high sensitivity of SDHB immunohistochemistry, it could be used for initial identifications of patients potentially carrying SDHx mutations for recommendation of genetic testing.

An uncommon intramedullary tumor: Primary medullary cone melanoma

Background: Melanoma is the third most common primary tumor to metastasize to the central nervous system (CNS). However, primary CNS melanoma is very rare, and primary intramedullary melanoma is even less frequently encountered, with only 27 cases published in the literature. There are no pathognomonic imaging characteristics, therefore, the diagnosis must be confirmed immunohistologically and the preferred treatment is the gross total resection. Case Description: A 68-year-old male presented with low back pain of 2 months duration, and 1 week of urinary retention/anal sphincter incontinence. The neurologic examination revealed bilateral paraparesis (3/5 level) with bilateral Babinski signs, and a T10–T11 pin level. The lumbar CT-Scan showed a hyperdense intramedullary tumor arising from the conus medullaris. The patient underwent a D12–L2 laminectomy with myelotomy for gross-total tumor resection. Postoperatively, he regained motor function but the urinary incontinence remained unchanged. The diagnosis of a primary malignant melanoma was confirmed both histopathologically and immunohistochemically (e.g., staining revealed positive immunoreactivity for S100 protein and Melan A). Conclusions: Primary intramedullary spinal melanoma is very rare, and the diagnosis must be biopsy/operatively confirmed. Whether gross total resection is feasible depends on the extent of tumor infiltration of the cord/ adherence as well as the potential for clinical deterioration with overly aggressive removal.