Infrequent Tumor Research Articles

The Outcome of Surgical and Radiotherapy in Central Neurocytoma: A Case Report

BACKGROUND: Central neurocytoma (CN) is an infrequent and non-malignant neuro-epithelial tumor. CN is mostly found in lateral ventricle and may generate obstructive hydrocephalus. Surgical-radiation can increase patient survival and prognosis. This case report presented a rare case about 30-year-old female with CN. CASE PRESENTATION: 30-year-old female came to the hospital with severe headache and vomiting. Brain MRI showed a heterogeneous mass in right lateral ventricle causing obstructive hydrocephalus. The patient undergone partial resection. CN confirmed from histopathological analysis. Afterward, patient received 54 Gy conventional radiotherapy. 3 months after radiation, patient remain asymptomatic and no neurological deficit. Brain MRI evaluation showed slightly reduction of tumor mass (from 4,09 x 3,01 x 4,13 cm before radiation to 4,00 x 3,86 x 3,63 cm after radiation). DISCUSSION: This case report was consistent clinically, radiologically, and histopathologically with intraventricular CN. Headache and vomiting in patient due to the raised intracranial pressure from tumor mass and obstructive hydrocephalus. Headache is a significant and most frequent symptom in intraventricular tumors, may be caused by traction or compression of the pain-sensitive structures such as meningen and intracranial vasculature. Optimal management of CN still remains controversial due to their rarity. However, surgical management with gross total resection is the gold standard of treatment modality, associated with good prognosis and longer progression-free survival. CONCLUSION: Based on clinical characteristic, radiographic finding and histopathological features; this case was consistent with CN of the lateral ventricle. Surgical as the treatment option followed by radiation has led to good clinical outcome in this patient. KEYWORDS: central neurocytoma, hydrocephalus, neuro-epethelial tumor, radiotherapy

Intestinal infantile fibrosarcoma with translocation of NTRK. A case report and review of the literature

IntroductionInfantile fibrosarcoma is a rare non-rhabdomyosarcomatous soft tissue tumor (0.0005%) of which only 10% occur in the abdomen where they rarely affect the gastrointestinal tract. The median age at diagnosis is 3 months although 40% of them are present at birth. Material and methodsWhen infantile fibrosarcoma is diagnosed in our center, a clinical–pathological description is made together with a bibliographic review. ResultsWe present the case of a 6-day-old girl who presented with irritability and rejection of food. She was diagnosed with acute abdomen due to perforation and underwent surgery where a mass on the ascending colon was removed. Histopathology revealed a proliferation of spindle cells consisting of intertwined fascicles, infiltrating the adjacent tissues. Nuclear pleomorphism, few mitoses, foci of necrosis and hemorrhage are seen. Immunohistochemistry showed positivity for Pan-TRK and the NGS panel (Archer DX) demonstrated the TPR::NTRK1 fusion.No case with these characteristics, location or TPR::NTRK1 fusion were found in the literature. ConclusionsInfantile fibrosarcoma is a very infrequent tumor which is exceptionally rare in the intestine. It is important to look for the characteristic genetic rearrangement of these tumors both to confirm the diagnosis and differentiate them from other pediatric spindle cell tumors and determine the correct targeted treatment. Selective TRK inhibitors have shown a 75% response rate in children and adults with tumors that exhibit TRK fusion. It was possible to find fusions with the Archer DX panel that the Oncomine panel did not detect.

Review of Sclerosing stromal tumor: A relatively rare ovarian neoplasm

Abstract Introduction/Objective Sclerosing stromal tumor (SST) is sex cord stromal tumor which is rare primary ovarian neoplasm. Because its clinical presentation and imaging findings accurate preoperative clinical diagnosis can be difficult. We report three cases of a sclerosing stromal tumor of ovary and histopathological presentation. Methods/Case Report Our patients had an age ranged from 27-40 years with primary ovarian neoplasm and as incidental in 64-year-old patient. Radiologically lobulated and heterogeneously enhancing, partially calcified masses with nodular rind of avid enhancement about the periphery of the lesion with high risk malignancy were seen. Grossly the masses had firm tan-white, solid, lobulated cut surfaces with patchy calcifications Results (if a Case Study enter NA) Microscopically all the three tumors showed a hyalinized, well-circumscribed nodule with few scattered trabeculae of spindled to plump cells with pale grey cytoplasm within a sclerotic stroma with few staghorn- like blood vessels around the periphery. Scattered calcifications were identified. No mitoses are identified. The reticulin stain showed pericellular focal nested staining pattern. There was no necrosis, pleomorphism, or features of malignancy were identified. Findings were consistent with a sclerosing stromal tumor. Conclusion Ovarian sex cord-stromal tumors are relatively infrequent neoplasms of all primary ovarian tumors. Clinical and sonographic findings alone do not predict the presence of this tumor. SSTs should be considered in differentials in young females with unilateral masses with cystic and solid masses. These tumors carry a good prognosis. Histopathological features along with immunohistochemsitry establish the diagnosis.

ODP050 Oncocytic Adrenocortical Carcinoma Presenting with Hematuria

Abstract Introduction Adrenocortical carcinoma (ACC) is rare and aggressive endocrine tumor. It is commonly noticed due to symptoms of hormone excess, mass-effect, or incidentalomas. Different histological variants are noted, which include: oncocytic, myxoid, sarcomatoid, and the conventional subtype. The oncocytic variant is usually seen on the left side, and usually presents with symptoms of mass-effect. Only around 17% were noted to be functional. We present an interesting case of ACC (oncocytic type) which presented with hematuria. Case Presentation 70-year-old female with a history of morbid obesity, hypertension, anxiety, GERD, tubular adenoma, hyperlipidemia, and lumbar radiculopathy came in to see her primary care for hematuria and back pain. She has a long-standing history of back pain, for which she has had an EMG, which showed mild axonal polyneuropathy and bilateral L5 radiculopathy. Apart from hematuria, she denies any other urinary complaints. Additionally, she denied any fever, chills, nausea, abdominal pain, sweating, tremor, headache, palpitations, easy bruising, fractures, muscle weakness, hirsutism, or changes in her weight. She has a family history of pancreatic cancer and is currently retired, and denies alcohol, tobacco, or recreational drug use. A KUB X-ray was ordered which showed calcification in the left upper quadrant, concerning for a splenic artery aneurysm; this led to a CTA abdomen, which showed a large 7.2 cm heterogenous enhancing solid left adrenal mass, concerning for primary adrenal carcinoma, which was new compared to imaging 2 years ago. Also seen was a 0.7 cm enhancing right hepatic lobe lesion, along with a 1.5 cm splenic artery aneurysm. Following this, an abdomen MRI with contrast showed a 7×7×7 cm solid heterogeneously enhancing left upper quadrant mass beside the left adrenal gland and pancreas. Subsequently, a CT guided needle biopsy was done, which revealed scant adrenal tissue. PET scan showed a hypermetabolic mass, arising from the left adrenal, consistent with adrenal carcinoma. At this point, an endocrinology referral was placed, and other lab work including 24-hour urine free cortisol, DHEA-S, 24-hour urine metanephrine, and aldosterone/renin ratio was done. DHEA-S level was elevated at 264 mcg/dl (12-133). She was then transferred to a tertiary care facility, where she underwent a left adrenalectomy, para-aortic lymphadenectomy, nephrectomy, splenectomy, and distal pancreatectomy. Pathology confirmed adrenal cortical carcinoma (oncocytic type), with negative margins, Ki-67 labelling index of 25%, and no lymphovascular invasion, pT2pNO. She was then discharged home with visiting nurses. Conclusion Oncocytic ACC is an infrequent tumor, which presents with symptoms of mass effect, and definitive diagnosis requires histopathological assessment. The Lin–Weiss–Bisceglia (LWB) system and Helsinki score help establish malignant potential. Fortunately, it has a decreased tendency to metastasize and a better prognosis than other ACC subtypes. Further studies to understand oncocytic ACC are needed. Presentation: No date and time listed

Necrolytic migratory erythema as a cutaneous manifestation of a pancreatic neuroendocrine tumor.

Glucagonoma syndrome is a rare entity defined by the existence of necrolytic migratory erythema (NME), elevated serum glucagon levels, and an underlying alpha-cell secreting tumor of the pancreas [ [1] John A.M. Schwartz R.A. Glucagonoma syndrome: a review and update on treatment. J Eur Acad Dermatology Venereol. 2016; 30: 2016-2022 Crossref PubMed Scopus (42) Google Scholar ]. We present the case of a female with clinical manifestations of this syndrome. In this paper, we describe the case of a 38-year-old woman referred to the dermatology department to investigate pruritic lesions located on the lower extremity, with subsequent extension to the axillae, groin, and intergluteal region, and pubis (Fig. 1). After several attempts, a skin biopsy specimen revealed histopathologic features suggestive of NME. Further evaluations revealed the presence of 8 centimeters nonmetastatic glucagonoma, located at the tail of the pancreas. 68Ga-DOTA TOC and an 18F-FDG PET identified a mild uptake of the lesion (Fig. 1). The glucagon level was >500 pg/mL. The patient was diagnosed with glucagonoma syndrome, and a caudal pancreatectomy was subsequently performed. Microscopy and the immunohistochemical study were consistent with a glucagonoma (Fig. 2). After surgery, the cutaneous manifestation was resolved, with normalization of glucagon levels. This uncommon case report adds information about an infrequent neuroendocrine tumor with cutaneous expression. Early recognition and diagnosis must support by radiological and nuclear medicine imaging tests [ [2] Jensen R.T. Cadiot G. Brandi M.L. et al. ENETS Consensus Guidelines for the management of patients with digestive neuroendocrine neoplasms: functional pancreatic endocrine tumor syndromes. Neuroendocrinology. 2012; 95: 98 Crossref PubMed Scopus (371) Google Scholar ]. Surgery is the initial treatment of choice. Fig. 2Skin biopsy revealing irregular acanthosis of the epidermis with loss of the stratum granulosum and edema of the superficial portion of the epidermis (A). Hematic extravasation and presence of abundant focal polynuclear cells alternating with areas of parakeratosis (B). Histological study reveals a nodular tumor of 8 × 4.5 × 3.5 cm, located in the tail of the pancreas with an intact capsular surface surrounded by adipose tissue (C). In the sections performed, a proliferation of neuroendocrine cells is identified, growing in an anastomosing, gyriform, pseudorosette trabecular pattern (D). Cells with ample eosinophilic cytoplasm and enlarged nuclei with central macronucleolus. Two mitoses are identified in 42 high magnification fields corresponding to less than one mitosis per 2 mm2 (E). Cells show intense positivity for chromogranin (F) and glucagon (G). View Large Image Figure Viewer Download Hi-res image

Squamous Cell Carcinoma in Situ of the Nail Unit: Current Evidence and Recommendations for Patient Centered Treatment.

Squamous cell carcinoma in situ of the hand and nail is an infrequent tumor but represents the majority of hand and nail malignancies. While the conventional treatments of invasive nail unit squamous cell carcinoma include Mohs micrographic surgery, wide local excision, or distal digit amputation, no standardized management paradigm for in situ disease exists and the necessity of surgical options is debated. This review aims to discuss the most commonly reported treatment methods and critically assess relevant management considerations in order to facilitate appropriate treatment decisions for nail unit SCCis across dermatologic practice settings. Assessment of the current literature reveals insufficient evidence to determine a standardized treatment for nail unit squamous cell carcinoma in situ. Rather, management is greatly impacted by multiple factors including the presence of subungual involvement, surgical candidacy, importance of curative treatment, and patient preferences regarding cosmesis and function versus cure. When cure is desired, Mohs micrographic surgery is the treatment of choice in most cases. In the setting of desired curative intent, but poor surgical candidacy, radiotherapy may be effective and provide a reasonable chance of functional and cosmetic preservation. Other methods including photodynamic therapy, electrodesiccation and curettage, cryotherapy, and intralesional chemotherapeutics may be appropriate in specific circumstances, but are generally limited by lack of evidence or impracticalities. Lastly, observation with palliation may be appropriate when considering exceedingly rare disease-related mortality.

Diagnosis and treatment of benign adipocytic tumors in children

PurposeTo describe demographic, clinical, diagnostic and therapeutic aspects of pediatric patients with benign adipocytic tumors admitted to a high complexity teaching hospital from 2007 to 2021.MethodsRetrospective observational descriptive study. Patient information was retrieved from clinical records. A descriptive analysis was carried out for qualitative data and frequencies were calculated for quantitative data.Results76 patients were included with a mean age of 7.5 years old where 60.5% were boys. The main symptom was a mass (73.7%) mostly found in the lower limbs (23.6%). Congenital birth defects were identified in 48.6% of the cases. Preoperative imaging was available in 78.9% of the patients allowing characterization of lesions or differential diagnosis. The therapeutic goal was resection with negative margins, which was feasible in all cases except for one case. The histopathological diagnosis was lipoma in 68.4% of the cases followed by lipoblastoma in 13.1%. The mean follow-up period was 17.9 months. 79.7% of the patients were asymptomatic at their last out-patient visit.ConclusionBenign adipocytic tumors constitute a wide spectrum of lesions, which involve diverse anatomic segments from the neural axis to the inguinoscrotal region. The present work contributes to the general understanding of the clinical presentation and differential diagnosis for these infrequent neoplasms.

Goblet cell adenocarcinoma in the digestive system: a clinicopathological analysis of 22 cases

Objective: To investigate the clinical features, morphological characteristics, immunophenotype, and differential diagnosis of goblet cell adenocarcinoma (GCA) in the digestive system. Methods: The clinicopathological data, morphological characteristics, immunophenotypes of 22 cases of GCA in the digestive system diagnosed from January 2010 to January 2021 were collected. Meanwhile, 25 cases of neuroendocrine neoplasm (NEN) and 24 cases of adenocarcinoma were used as controls. Relevant literature was also reviewed. Results: There were 16 males and 6 females, aged from 36 to 79 years with an average of 56 years. The anatomical sites of the 22 GCA were mostly appendix (17 cases) and occasionally extra-appendix (5 cases), including 3 cases in stomach, 1 case in duodenum and 1 case in anal. All 17 cases of appendiceal GCA were pure GCA. Among the 5 cases of extra-appendiceal GCA, One case of gastric GCA was pure, two cases of gastric GCA with NEN or adenocarcinoma, duodenal GCA with NEN and adenocarcinoma, anal GCA with NEN.Low-grade GCAs were composed of goblet, Paneth and neuroendocrine cells, which were arranged in intestinal crypt tubular or cluster structures and distributed in the wall of digestive system. The tubular and cluster structures lacked adhesion. Goblet cells were columnar, located in the base, with clear cytoplasm, small nuclei, inconspicuous atypia, and uncommon mitoses. Extracellular mucus and signet-ring cells with nuclear variations could be seen in some cases. Nerve fiber bundle invasion and tumor thrombus in vessels were often present. High-grade GCAs lacked tubular and cluster structures, and their histological structures were more complex. Tumor cells expressed mixed neuroendocrine and glandular epithelial markers. Similar to the expression patterns of synaptophysin and chromogranin A, CD200 and INSM1 were also dot-like or patch-positive in GCA. Conclusions: GCA is an infrequent tumor of the digestive system and shows the bi-directional differentiation characteristics of neuroendocrine and glandular epithelium. Accurate diagnosis and staging are related to its prognosis.

Comparison of External Carotid Ligation and Preope Embolization of Feeding Vessel for Controlling Perop Heamorhage in Angiofibroma Excision

Background: The prevalence of Angiofibroma of juvenile variety is infrequent tumor of nasopharynx7. It grows aggressively and is locally destructive and extends into the cranium as well. Its symptoms usually involve nasal obstruction with or without nasal bleed. Aims: To compare two methods i.e 1. Carotid artery ligation per operatively and embolization of feeding artery pre operatively in order to assess which method is better in controlling per operative bleeding during its excision. Design: Comparative study Study setting: The study was conducted in the Department of Otorhinolaryngology of Jinnah Hospital, Lahore. The duration of the study is from 01st January 2020 to 31st January 2022. Methodology: A group 20 patients were taken having angiofibroma. 10 patients went for pre operative embolization of the feeding vessel of the angiofibroma after localizing the vessel by having MRA. The other 10 patients had their external carotid artery ligated before excising the angiofibroma. The bleeding which occurred during both procedures was quantified by weighing the gauze pieces soaked per operatively, the blood collected in suction bottle and then comparing the values. Results: Ten patients who had embolization had far more bleeding during excision as compared to the 10 patients who had their external carotid artery ligated per operatively before excision. Conclusion: Results showed that pre operative embolization is not a better procedure to control per op bleeding as compared to external carotid artery ligation during angiofibroma excision. Keywords: Embolization, angiofibroma, per operative ,

Comparison of External Carotid Ligation and Pre Operative Embolization of Feeding Vessel for Controlling Per Operative Heamorrhage in Angiofibroma Excision

Background: The prevalence of Angiofibroma of juvenile variety is infrequent tumor of nasopharynx7. It grows aggressively and is locally destructive and extends into the cranium as well. Its symptoms usually involve nasal obstruction with or without nasal bleed. Histopathology shows spindle cells scattered between collagen fibers and vascular tissue. MRI and CT angiogram are the two most important investigations used in its diagnosis. Many methods have been used for its excision since ancient times and many researches have been done to control per operative bleeding as it is a vascular tumor. Aim: This study was performed to compare two methods i.e., 1. Carotid artery ligation per operatively and 2. Embolization of the feeding artery pre operatively in order to assess which method is better in controlling per operative bleeding during its excision. Design: Comparative Setting & duration: Department of Otorhinolaryngology, Jinnah Hospital, Lahore from 01st January 2020 to 31st January 2022. Methodology: A group 20 patients were taken having angiofibroma. 10 patients went for pre operative embolization of the feeding vessel of the angiofibroma after localizing the vessel by having MRA. The other 10 patients had their external carotid artery ligated before excising the angiofibroma. The bleeding which occurred during both procedures was quantified by weighing the gauze pieces soaked per operatively , the blood collected in suction bottle and then comparing the values. Results: The 10 patients who had embolization had far more bleeding during excision as compared to the 10 patients who had their external carotid artery ligated per operatively before excision. Conclusion: Results showed that pre operative embolization is not a better procedure to control per op bleeding as compared to external carotid artery ligation during angiofibroma excision. Keywords: Embolization , angiofibroma , per operative ,

The Cellular and Molecular Landscape of Synchronous Pediatric Sialoblastoma and Hepatoblastoma.

Sialoblastoma (SBL) is an infrequent embryonal malignant tumor originating from the salivary gland, resembling primitive salivary gland anlage, whereas hepatoblastoma (HB) is the most common pediatric liver malignancy. The simultaneous occurrence of both tumors is extremely rare. Here we reported a case of a 6-month-old infant diagnosed with synchronous SBL and HB. The patient received neoadjuvant chemotherapy followed by surgical resection. Fresh tissues of both tumors were collected before and after chemotherapy, which were further profiled by whole exome sequencing (WES) and single-cell RNA sequencing (scRNA-seq). WES analysis revealed potential somatic driver mutation PIK3CA p.Glu454Lys for SBL and canonical mutation CTNNB1 p.Ser45Pro for HB. No shared somatic variants or common copy number alterations were found between SBL and HB primary tumor samples. Though scRNA-seq, single-cell atlases were constructed for both tumors. SBL may recapitulate a pre-acinar stage in the development of salivary gland, including basaloid, duct-like, myoepithelial-like, and cycling phenotypes. In the meantime, HB was composed of tumor cells resembling different stages of the liver, including hepatocyte-like, hepatic progenitor-like, and hepatoblast-like cells. After chemotherapy, both tumors were induced into a more mature phenotype. In terms of transcriptional signatures, SBL and HB showed enhanced expression of epithelial markers KRT8, KRT18, and essential embryo development genes SDC1, MDK, indicating the disruption of normal embryo epithelium development. Finally, heterozygous deleterious germline mutation BLM and FANCI were identified which could predispose the patient to higher cancer risk. It partially explained the reason for the co-occurrence of SBL and HB. Taken together, we provided valuable resources for deciphering cellular heterogeneity and adaptive change of tumor cells after chemotherapy for synchronous SBL and HB, providing insights into the mechanisms leading to synchronous pediatric tumors.

Rare Histologies and Infrequent Indications for Cytoreductive Surgery and Hyperthermic Intraperitoneal Chemotherapy.

This single-centre study evaluated cytoreductive surgery (CRS) combined with hyperthermic intraperitoneal chemotherapy (HIPEC) for patients with rare histologies and uncommon tumour origins. Prospectively collected data from the data registry of a single institution was retrospectively investigated. We present a series of selected patients who underwent CRS and HIPEC between 2011 and 2021 for peritoneal metastases arising from infrequent tumour entities. The study included 76 patients. From the wide range of histologies, seven groups were formed: Cancer of unknown primary, uncommon ovarian cancer types, other gynaecological tumours (endosalpingiosis, endometrial and cervical cancer), small bowel carcinoma, recurrent peritoneal mesothelioma, desmoplastic small round-cell tumour, and other rare malignancies. The median peritoneal cancer index was 8. Fifty-five patients with primary and 22 patients with recurrent disease were examined. Complete macroscopic tumour resection was achieved in 84% of cases. The median survival was 68.53 months considering the entire cohort, whilst the longest survival rate was registered in the group with rare ovarian cancer, and the shortest in the group of patients with small round-cell tumour, at 112.3 and 11.4 months, respectively (small round-cell tumour versus rare ovarian cancer, hazard ratio=15.6817; 95% confidence interval=2.6585-92.5030; p=0.0024). Based on the encouraging results in some test groups, especially in rare ovarian cancer, CUP, small bowel cancer and recurrent mesothelioma, multicenter prospective studies examining such rare tumour histologies are needed to reach a higher number of cases and, thus, explore the impact of multimodal therapy on these patients.

P-69 Anal squamous cell carcinoma (ASCC) outcomes in clinical practice: From localized to metastatic setting

Anal cancer is an infrequent neoplasm, usually diagnosed at localized stages. A multidisciplinary approach involving chemoradiotherapy (CRT) and surgery is necessary. Real-world data in both locally advanced and metastatic setting is needed to support therapeutic decisions. Patients with ASCC diagnosis between 2004 and 2022 in three tertiary care centers in Spain were reviewed. Demographic, clinical, pathological, and therapeutic variables were collected. Comparative analyses have been performed by Chi-squared tests. Survival estimates have been calculated by Kaplan-Meier method and comparations have been made using Cox proportional hazards model. 111 patients were included (45.9% males, median age 61y, 9.9% metastatic at initial diagnosis). Preferred treatment in localized stage was CRT (88.1%) with 5-fluorouracil and mytomicin-C (5FU-MMC) (55%) or 5FU-Cisplatin (33%). Response in patients treated with CRT was assessed by MRI at 3 and/or 6 months after CRT in 60.4% and 53.1% respectively. 19.6% of patients needed surgical intervention due to persistent or progressive disease after CRT. There were no significant differences between 5FU-MMC or 5FU-Cisplatin in terms of complete radiological response (45,28% vs. 51,61%; p = 0.58), need of surgical rescue (18,85% vs. 19,35%; p = 0.96), distant or localized relapse (30,18% vs. 25,80%; p = 0.67), median disease-free survival (DFS) (50,00 months vs. non reached (NR); p = 0.24) or overall survival (117,26 months vs. NR; p = 0.45). OS was significantly improved in patients who achieved a complete radiological response vs. patients who not (117,26 months vs. 29,01 months p 42,57% of all patients treated with curative intent relapsed locally (44.2%) or distant (55.8%), being regional nodes most common place of recurrence. The median OS of metastatic patients at diagnosis was 14,75 months. Considering all metastatic patients (de novo or relapsed), no significant differences in OS were found between patients who received treatment with curative intent (surgery, CRT) and patients only candidate to palliative chemotherapy 15,97 months vs. 13,11 months; p = 0.072). Median progression-free survival (PFS) of Carboplatin-Paclitaxel was 4,76 months. 62,85% of metastatic patients received a 2nd line of treatment. 48,57% of metastatic patients received immunotherapy. PD-(L)1 was only determined in 11,42% of metastatic patients. PFS of immunotherapy was 2,27 months. One patient receiving immunotherapy achieved a complete response and two patients achieved a PFS > 12 months. Other regimens used in latter lines included oxaliplatin (5,71%) and irinotecan-based (14,28%) regimens. Real world data in ASCC population reveals a complex scenario with significant heterogeneity in response to treatments and outcomes. Multidisciplinary collaboration is essential. Role of immunotherapy in ASCC patients in clinical practice is still unknown. More research is needed in the refractory setting after Carboplatin-Paclitaxel to increase OS.

Identification of Prognostic Biomarkers in Patients With Malignant Rhabdoid Tumor of the Kidney Based on mTORC1 Signaling Pathway-Related Genes.

Background: Malignant rhabdoid tumor of the kidney (MRTK) is an infrequent malignant tumor in childhood, accounting for approximately 2% of all childhood kidney tumors. Although the development of current treatments, the overall survival (OS) rate of MRTK patients is only 25%. The aim of this research was to explore the prognostic value of genes associated with the mTORC1 signaling pathway in MRTK. Methods: The transcriptome data of MRTK samples were downloaded from the TARGET database. The 200 genes of HALLMARK_MTORC1_SIGNALING were downloaded from the Molecular Signatures Database (MSigDB). Furthermore, we applied gene set variation analysis (GSVA) to screen differentially expressed gene sets between the MRTK and normal samples. The 200 genes were combined with differentially expressed genes (DEGs) identified from differentially expressed gene sets. Then, a gene signature of mTORC1 pathway-related genes (mTRGs) was constructed in MRTK. The molecular mechanism of prognostic factors in MRTK was further analyzed using gene set enrichment analysis (GSEA). The target drugs based on these prognostic factors were explored from The Comparative Toxicogenomics Database (CTD). Moreover, six paired fresh tumor tissues and paraneoplastic tissues from children with MRTK were collected to validate the expressions of P4HA1, MLLT11, AURKA, and GOT1 in clinical samples via real-time fluorescence quantitative PCR and Western blot. Results: A four-gene signature (P4HA1, MLLT11, AURKA, and GOT1) related to the mTORC1 pathway was developed in MRTK, which divided the MRTK patients into high-risk and low-risk groups. The patients with high-risk scores were strongly associated with reduced OS. Receiver operating characteristic (ROC) analysis indicated a good prediction performance of the four biomarker signatures. GSEA revealed that the mTOR signaling pathway was significantly enriched. The risk score was demonstrated to be an independent predictor for MRTK outcome. According to the correlation of tumor stem cell index and prognostic factors, the target drugs were obtained for the treatment of MRTK patients. Furthermore, the expressions of RT-qPCR and Western blot were consistent with RNA-sequencing data such that their expressions were significantly elevated in tumor tissues. Conclusion: A total of four genes (P4HA1, MLLT11, AURKA, and GOT1) were screened as prognostic markers, further providing a new understanding for the treatment of patients with MRTK.

Comprehensive Understanding and Evolutional Therapeutic Schemes for Pseudomyxoma Peritonei: A Literature Review.

Pseudomyxoma peritonei is an infrequent solid tumor in clinical practice. The low morbidity and deficient understanding of this mucus-secreting malignant disease increase the risks of delayed identification or uncontrollable deterioration. In quite a lot cases, patients go through complete cytoreduction surgery and hyperthermic intraperitoneal chemotherapy could receive a long time survival over 5 years. But the recurrence rate is also hard to overlook. Unlike other types of cancer, the standard treatment for this considerable groups has not been confirmed yet. With the advanced medical progression, studies have been carrying out based on pathogenesis, biological characters, and mutated gene location. All but a few get statistical survival benefits, let alone the breaking progress on research or therapeutic practice in the field. We try to give a comprehensive exposition of pseudomyxoma peritonei around the epidemiology, radiologic features, clinical manifestation, present treatment and promising schemes, hoping to arise much attention and reflection on the feasible solutions, especially for the recrudescent part.

Neuroendocrine tumors: Ten years of experience in a Mexican oncology reference center.

503 Background: Neuroendocrine tumors (NETs) are infrequent neoplasms that originate in the neuroendocrine cells of the embryological endoderm. Few data exist about the epidemiology and clinical characteristics of these tumors in the Mexican population. Methods: We performed a retrospective analysis of patients with pathology-confirmed NET treated at an Oncology Reference Center in North-East Mexico from 2010 to 2019. Clinical characteristics were recorded and an evaluation of overall survival (OS) using the Kaplan-Meier method was performed. Results: Fifty-three patients were included in the final analysis. The mean age at diagnosis was 54 +/- 16.36 years and 53% were men. Primarily affected sites were the gastroenteropancreatic tract [GEP] (47%), lung and mediastinum (21%), unknown primary (21%), and others (11%). Regarding the clinical stage at presentation, 22.6% of patients with NETs had localized disease, while 22.6% had regional spread and 54.7% were considered to have metastatic disease at diagnosis. Median OS was 42 months for all patients with NETs. In the GEP group, the median OS was 64 months, whereas for the lung/ mediastinum group was 8 months and for the unknown primary group was 5 months. Median OS stratified by stage was as follows: Localized disease: Not reached (NR), locoregional (20 months), and metastatic disease (8 months). Conclusions: To our knowledge, this is the first study published in English literature reporting the clinical characteristics and survival of Mexican patients with NETs. It is necessary to expand the information regarding these neoplasms to improve access of these patients to standard treatments and therefore improve their outcomes.

Unusual cervicothoracic presentation of lipoblastoma in a 12-month infant

Introduction: Lipoblastomas (LBs) are infrequent tumors that typically manifest at the expense of embryonic adipocytes in infants younger than three years with a male predominance. Usually LBs are benign in nature, slow in growth with tendency to be localized in the extremities b

Genome instability is associated with ethnic differences between Asians and Europeans in hepatocellular carcinoma.

Hepatocellular carcinoma (HCC) is one of the deadliest cancer types with diverse etiological factors across the world. Although large scale genomic studies have been conducted in different countries, integrative analysis of HCC genomes and ethnic comparison across cohorts are lacking.Methods: We first integrated genomes of 1,349 HCC patients from five large cohorts across the world and applied multiple statistical methods in identifying driver genes. Subsequently, we systematically compared HCC genomes and transcriptomes between Asians and Europeans using the TCGA cohort.Results: We identified 29 novel candidate driver genes, many of which are infrequent tumor suppressors driving late-stage tumor progression. When we systematically compared ethnic differences in the genomic landscape between Asian and European HCCs using the TCGA cohort (n = 348), we found little differences in driver frequencies. Through multi-modal integrative analysis, we found higher genomic instability in Asians together with a collection of molecular events ranging from tumor mutation burden (TMB), copy number alterations as well as transcriptomic subtypes segregating distinctively between two ethnic backgrounds. Strikingly, we identified an Asian specific transcriptomic subtype with multiple ethnically enriched genomic alterations, in particular chromosome 16 deletion, leading to a clinically aggressive RNA subgroup unique to Asians. Integrating multi-modal information, we found that survival models predict patient prognosis much better in Asians than in Europeans, demonstrating a higher potential for precision medicine applications in Asia.Conclusion: For the first time, we have uncovered an unprecedented amount of genomic differences segregating distinctively across ethnicities in HCC and highlighted the importance of differential disease biology and management in HCC across ethnic backgrounds.

Zreli gastrični teratom kod ženskog odojčeta sa malrotacijom creva - prikaz slučaja

Gastric teratoma is a extremely infrequent tumor and accounts for less than 1% of all teratomas among children population with male predominance. Case history: Herewith is described a case of mature gastric teratoma in a three months-old female infant associated with malrotation, hypotonia, torticollis and fusion of labia minoria. Due to the abdominal distension, the child was admitted to the Paediatric Surgery Department. On physical examination, a large lump was palpable, and laboratory findings were normal. Computed tomography (CT) showed a major heterogeneous solid formation within the right hemi-abdomen, extending to pelvis and crossing the midline. The infant underwent surgery and complete excision of tumor originating from lesser curvature of the stomach was made. Tumor was weighing 600 gr and was 10 x 14 x 8 cm large. The histopathological examination finding pointed to mature gastric teratoma. The post-operative course and further follow-up were eventless. Conclusion: As soon as the diagnosis is made, the surgery is of paramount importance, especially in cases of immature teratomas, where malignant alteration is possible.

Diagnosis, prevention and treatment of central nervous system involvement in peripheral t-cell lymphomas.

Non-Hodgkin lymphomas with T-cell immunophenotype encompass a heterogeneous group of infrequent neoplasms that follow variable clinical courses but prevalently include aggressive behavior and high mortality rates. The involvement of the central nervous system (CNS) is an uncommon event in T-cell lymphomas, with wide variability among the different disease entities. CNS can be affected either at initial diagnosis or at recurrence, and both forms are considered "secondary CNS T-cell lymphoma". Given the low incidence of secondary CNS T-cell lymphoma, related literature is sparse, contradictory, and primarily constituted by small case series and single case reports. However, reported studies uniformly suggest high mortality rates related to this event. Therefore, to improve our ability to identify high-risk patients and offer them successful CNS prophylaxis or timely and effective treatment once the event has occurred may prevent CNS-related T-cell lymphomas deaths. For example, some entities like aggressive adult T-cell leukemia/lymphoma, extranodal natural killer/T-cell lymphoma, and other peripheral T-cell lymphomas with involvement of two or more extranodal organs are prone to CNS dissemination and should be considered for personalized CNS prophylaxis. The level of evidence suggesting an increased risk of CNS recurrence for other T-cell lymphomas and for other risk factors is lower. Published case series show that, following the example of aggressive B-cell lymphomas, patients with T-cell lymphomas and putative increased CNS risk receive different forms of prophylaxis, mostly methotrexate and cytarabine delivered by intrathecal and/or intravenous routes, with varied success. To date, achievements in the treatment of CNS involvement in patients with aggressive B-cell lymphoma were not replicated in secondary CNS T-cell lymphomas, and identification of effective therapies remains an urgent research target. This review is focused on clinical findings, diagnosis, treatment, and prognosis of patients with T-cell lymphoma experiencing CNS dissemination either at presentation or relapse. It aims to provide logical and, oftentimes, evidence-based answers to the most common questions on the most probable risk factors to CNS involvement in patients with T-cell lymphoma, the indications and strategies to prevent this life-threating event, and the management of patients with CNS disease.