Variant Of Tumor Research Articles

Prevalence, distribution, and prognostic significance of morphological variants of neuroendocrine tumors of the gastrointestinal tract - a multicenter study.

The incidence and prevalence of neuroendocrine neoplasms (NENs) in many organs are increasing. Although such NENs have similar grades, they may exhibit quite different behaviors. In this multicenter study, we aimed to investigate the prevalence and distribution of different morphological NEN variants in the non-pancreatic gastrointestinal (GI) tract and determine whether they can guide prognosis prediction. Two hundred and fifty-six patients diagnosed with NENs originating from the GI tract from 7 different centers were included in the study. In 89 (36.6%) cases, different morphological variants were detected. When the variants were grouped according to their aggressiveness as described in the literature, a statistically significant relationship between aggressiveness and the variables organ and age was found ( p < 0.05). The oncocytic variant was found to metastasize more than the other aggressive types (42.9%). The paraganglioma-like variant was found to have a smaller size, lower proliferation index, and a more benign clinical course. This study demonstrated that well-differentiated GI neuroendocrine tumors (GI-NETs) have considerable morphological diversity. Generally, case reports of rare morphological variants of GI-NETs are available in the literature. We believe that our study contributes to a better understanding of the prevalence, localization, and significance of morphological variations in GI-NETs.

CMMRD-associated embryonic rhabdomyosarcoma in a child. Clinical case with literature review

Introduction. Hereditary disorders in the DNA repair system can lead to the development of malignant neoplasms in childhood. DNA constitutional mismatch repair deficiency syndrome (CMMRD) is a very rare genetic autosomal recessive disorder caused by homozygous mutations in one of the four mismatch repair genes (MLH1, MSH2, MSH6, and PMS2). The frequency of occurrence is 0.0000001 of the adult and child population. For now about 150 observations have been published in the world literature. The prognosis for CMMRD syndrome is extremely unfavorable. The spectrum of tumors that make up the CMMRD syndrome is very wide, and includes mainly malignant brain tumors, tumors of the digestive tract, hematological malignancies, embryonic tumors, all of which develop in childhood.The purpose of the study is to report a case of CMMRD-associated embryonic rhabdomyosarcoma in a 3-year-old child.Conclusions. A review of the literature and the clinical case we have described show that rhabdomyosarcoma belongs to the tumor spectrum of the CMMRD syndrome. An immunohistochemical study revealed an isolated loss of PMS2 gene expression. Taking into account the clinical course of the CMMRD syndrome, a thorough study of the family history in patients with rhabdomyosarcoma is recommended, as well as a molecular genetic study, including the search for germinal mutations in genes in the DNA repair system and the assessment of microsatellite instability in the material of the tumor tissue. The clinical symptoms of CMMRD syndrome are nonspecific and depend on the morphological variant of the primary tumor. Distinctive molecular genetic features of this syndrome are: homozygous mutations with loss of function of the germline genes of the MMR system (mismatch repair) (MLH1, MSH2, MSH6 or PMS2).

Intraductal papillary neoplasm of the bile duct: The new frontier of biliary pathology.

Intraductal papillary neoplasms of the bile duct (IPNBs) represent a rare variant of biliary tumors characterized by a papillary growth within the bile duct lumen. Since their first description in 2001, several classifications have been proposed, mainly based on histopathological, radiological and clinical features, although no specific guidelines addressing their management have been developed. Bile duct neoplasms generally develop through a multistep process, involving different precursor pathways, ranging from the initial lesion, detectable only microscopically, i.e. biliary intraepithelial neoplasia, to the distinctive grades of IPNB until the final stage represented by invasive cholangiocarcinoma. Complex and advanced investigations, mainly relying on magnetic resonance imaging (MRI) and cholangioscopy, are required to reach a correct diagnosis and to define an adequate bile duct mapping, which supports proper treatment. The recently introduced subclassifications of types 1 and 2 highlight the histopathological and clinical aspects of IPNB, as well as their natural evolution with a particular focus on prognosis and survival. Aggressive surgical resection, including hepatectomy, pancreaticoduodenectomy or both, represents the treatment of choice, yielding optimal results in terms of survival, although several endoscopic approaches have been described. IPNBs are newly recognized preinvasive neoplasms of the bile duct with high malignant potential. The novel subclassification of types 1 and 2 defines the histological and clinical aspects, prognosis and survival. Diagnosis is mainly based on MRI and cholangioscopy. Surgical resection represents the mainstay of treatment, although endoscopic resection is currently applied to nonsurgically fit patients. New frontiers in genetic research have identified the processes underlying the carcinogenesis of IPNB, to identify targeted therapies.

Immunohistochemical expression of PRAME in 485 cases of epithelial tubo-ovarian tumors.

Preferentially expressed antigen of melanoma (PRAME) is a cancer/testis antigen selectively expressed in somatic tissues and various solid malignant tumors and is associated with poor prognostic outcome. Our research aimed to comprehensively compare its expression in a large cohort of tubo-ovarian epithelial tumors and examine its correlation with our clinico-pathologic data, as well as to assess its potential use in diagnostics and therapy.We examined 485 cases of epithelial tubo-ovarian tumors including 107 clear cell carcinomas (CCC), 52 endometroid carcinomas (EC), 103 high grade serous carcinomas (HGSC), 119 low grade serous carcinomas (LGSC)/micropapillary variant of serous borderline tumors (mSBT), and 104 cases of mucinous carcinomas (MC)/mucinous borderline tumors (MBT). The immunohistochemical analysis was performed using TMAs.The highest levels of expression were seen in EC (60%), HGSC (62%), and CCC (56%), while expression in LGSC/mSBT (4%) and MC/MBT (2%) was rare. The clinico-pathologic correlations and survival analysis showed no prognostic significance.The results of our study showed that PRAME is neither prognostic nor a suitable ancillary marker in the differential diagnosis of tubo-ovarian epithelial tumors. Nevertheless, knowledge about the PRAME expression may be important concerning its potential predictive significance, because targeting PRAME as a potential therapeutic option is currently under investigation.

A clinical case of synchronous endometrial and ovarian cancer associated with pregnancy

According to various literature sources, in the general population of women with synchronous endometrial cancer and ovarian cancer is quite rare. We have not found a single foreign or domestic literary source describing clinical cases of primary multiple malignant tumors: synchronous endometrial cancer and ovarian cancer associated with pregnancy.We present an interesting clinical example that clearly demonstrates the possibility of successful treatment of this variant of primary multiple malignant tumors – synchronous endometrial cancer and ovarian cancer associated with pregnancy. The features of the course of the disease, the features and difficulties of treatment of this pathology are shown. And also the high efficiency of the treatment was shown according to the morphological study with an assessment of the drug pathomorphosis according to Lavnikova.A case of successful combined treatment is presented, taking into account the combined pathology. According to the received data, it is possible to conclude. The management of pregnant women and the treatment of cancer should be carried out in specialized centers with experience in the treatment of oncological diseases associated with pregnancy.

Primary retroperitoneal squamous cell carcinoma: a literature review.

Retroperitoneal squamous cell carcinoma is an extremely rare histological variant of retroperitoneal tumors. The exact etiology and origin of the same is still unknown. To date, only a few case reports have been published in the literature. Due to rarity, standard treatment protocol is not available. The article aims to review the literature and treatment options available for this uncommon entity, based on available data. We searched the databases like PubMed, PubMed Central, Scopus, and Google Scholar with the keywords "Squamous cell carcinoma" and "retroperitoneal tumors". Peer-reviewed and recent articles were screened. Seven relevant articles comprising 14 cases were found. Due to the small number of reports, tabulation of treatment details and outcome was done. Like the sarcoma variant, these tumors also present with a large mass in the abdomen and abdominal discomfort. Association with human papillomavirus appears to be the most common factor that gives rise to squamous histology. Retroperitoneal SCC is an uncommonly diagnosed entity. Although no specific treatment guidelines exist for this uncommon malignancy; surgery followed by adjuvant or definitive radiotherapy with concurrent chemotherapy (in inoperable cases) seems a feasible option. Multicentre trials should be conducted for establishing definitive treatment strategies for this ailment.

A single-institution analysis of a rare variant of pancreatic neoplasm-osteoclastic giant cell tumor.

e16315 Background: Pancreatic osteoclastic giant cell tumor (OGCT) is a rare variant (&lt;1% cases) of pancreatic neoplasm. Due to its rarity, prospective studies on management are limited. The prognosis and molecular characteristics may differ from pancreatic adenocarcinoma. Methods: We analyzed demographics, clinical features, treatment modalities, and outcomes of overall survival (OS) and progression-free survival (PFS) in patients with pancreatic OGCT at our institution from 2005-2022. Results: We identified 8 OGCT patients with a median age of 67, of whom 7 had locoregional disease (resectable- 5, borderline resectable- 1, locally advanced-1), and 1 had denovo metastatic disease at diagnosis. The borderline resectable and locally advanced patients eventually developed metastatic disease. The majority of patients were male (n=5), Caucasian (n=7), former smokers (n=5), had no significant alcohol use (n=8) and had no pre-existing pancreatitis (n=8). 4 of the 5 resectable patients had surgery, and 2 received adjuvant chemotherapy. The median OS was 54 months for locoregional disease (n=5) vs.16 months for metastatic disease (denovo metastatic and progression to metastatic disease, n=3). The median OS was 54 months for surgical resection (n=4) vs. 25 months for those without surgical resection (n=4) based on quartile computations from the Kaplan-Meier survival curve. Conclusions: Our patients had a longer OS than the previously reported OS of less than 12 months for all stages of pancreatic OGCT. There was no progression in resectable patients, indicating an indolent disease with an overall good prognosis. Patients with locoregional disease or those who underwent surgical resection had longer OS, but due to the small sample size and censored patient survival times (i.e., patients still alive), the statistical significance of this trend could not be calculated. Studies are required to understand tumor biology and determine the optimal multidisciplinary treatment. [Table: see text]

Cytomorphologic observations on the sclerosing variant of well-differentiated pancreatic neuroendocrine tumors: Towards making specific diagnoses early.

The recently described sclerosing variant of pancreatic neuroendocrine tumor (spNET) shows prominent stromal fibrosis and decreased tumor cellularity in surgical pathology specimens. Although prognostic data are currently ambivalent, some studies have reported metastatic disease in small primary tumors, highlighting the need for early diagnosis. The aim of our study is to evaluate cytology specimens of spNET to determine its characteristic cytomorphologic features to expedite an early diagnosis. Twenty-five cytology cases of spNET from 23 patients and 29 cytology cases of typical pancreatic neuroendocrine tumor (tpNET) from 29 patients diagnosed as such by surgical pathology evaluation were reviewed by two pathologists to assess adequacy of diagnostic material, cellularity and fibrosis. Radiographic findings and outcome data were collected. With only 13 of 25 specimens deemed as diagnostic, spNET specimens were more often non-diagnostic (p < .01) and less often hypercellular (p = .03) compared to tpNET counterparts. While at least focal fibrosis was observed in both groups, a subset of spNET cases showed small tumor cell groups entrapped in large fibrotic fragments. Importantly, spNETs tended to be metastatic at diagnosis (both regionally and distant), with a smaller average tumor size. The hypocellular nature of spNET cytology samples makes this variant difficult to diagnose. However, when adequate sample is available, a subset of spNET show characteristic cytomorphology that enables us to consider this specific diagnosis at first diagnostic sampling. It is crucial to diagnose this variant early given the propensity of small tumors with regional lymph node involvement and liver metastases.

Histomorphologic analysis of ovarian tumors according to the New 2020 WHO classification of female genital tumors.

In terms of female genital tract-related cancers, ovarian tumors account for 3% of all tumors. On the basis of gross, radiological, and clinical features alone, ovarian neoplasms cannot be diagnosed. Therefore, a clear histological diagnosis is necessary before beginning a permanent course of therapy. Cross-sectional analytical study. In this ambispective study, a total of 480 patients with ovarian tumors were included from January 2015 to July 2022 at a tertiary care center in western Maharashtra. Descriptive statistics-percentages, mean, and Chi-square test (to calculate P value) were used to analyze the collected data. To determine clinical presentation, age distribution and incidence of various morphological and histological variants of ovarian tumors. Out of 480, 250 cases (52%) in 41-50 years of age, followed by 154 cases (32%) in 21-30 years of age. Our study showed 301 cases of benign, 42 cases of borderline, and 137 cases of malignant neoplasms of ovary out of 480 cases studied. Out of 480 cases, 244 cases (50.83%) were cystic, 138 cases (28.75%) were solid, and 98 cases (20.42%) were mixed (cystic/solid). Out of 480 cases, 326 cases (67.91%) were surface epithelial ovarian neoplasms. In this research, most frequent ovarian neoplasms were serous tumors in 216 cases (45%) followed by mucinous tumors in 78 cases (16.25%). In 96% cases, clinical diagnosis matched with histopathological diagnosis. In our research, benign ovarian neoplasms were most frequent. Serous tumors were the most frequent type of surface epithelial neoplasms followed by mucinous tumors. Peak incidence was seen in fifth decade. Higher risk of malignancy was seen in nulliparity or low parity and early menarche not associated with risk of malignancy. Cystic morphology more common in benign neoplasms and complex or solid morphology showed greatest increase in incidence of malignancy. Latest WHO classification has important impact on prognosis and therapy of the patient.

Radiolabelled folate micellar carriers as proposed diagnostic aid for CNS tumors by nasal route.

Glioma refers to the most atypical variant of the malignant central nervous system tumors posturing massive challenge to the research fraternity owing to the flimsy improvement in the patient survival rate over the past years. The aim of the proposed work was developing a diagnostic aid for brain tumors, which could be administered via the non-invasive intranasal route. Since overexpression of folate receptors in the central nervous system tumors is 500 times more than the normal healthy cells, we aimed at fabricating a radiolabeled folate encapsulated micellar delivery system to be given via the nasal route. Folate conjugated bifunctional chelating agent was synthesized, radiolabeled with 99mTc, and encapsulated in a micellar carrier. The fabricated micelles were further evaluated for in vivo nasal toxicity in rats and the same were found safe for intranasal administration. The fabricated micelles owing to their nano size, mucoadhesive nature, and enhanced permeation were observed to have a higher uptake into the brain (around 16% in 4 h) than as compared to the radiolabeled conjugated folate solution when studied for in vivo biodistribution in mice. Single-photon emission computerized tomography imaging performed in higher animals upon intranasal administration of the micellar formulation revealed enhanced uptake of the micelles into the animal brain. It is believed that the aforementioned formulation can be of a great diagnostic value in the detection of not only brain tumors but also other folate expressing cancers such as cervical, breast, and lungs as the system is fast, non-toxic, accurate, non-invasive, and simple.

Abstract 2509: Similar variant histology and immune cell infiltration in canine and human muscle-invasive bladder cancer

Abstract Introduction: Muscle-Invasive Bladder Cancer (MIBC) is associated with a poor overall survival rate. One important factor that contributes to poor treatment outcomes is the histologic heterogeneity of MIBC tumors, which limits the translational value of some rodent models. As opposed to mice, dogs with spontaneously occurring bladder cancer have been shown to present with similar clinical behavior as human MIBC. In addition, canines have an intact immune system, which could provide for an ideal pre-clinical study population to investigate the efficacy of immunotherapy. In this study, we evaluated canine MIBC tumor biopsies for their similarities to human MIBC with regards to histology and immune cell infiltration. Materials &amp; Methods: Nine canine MIBC tumor samples were provided by the ISU pathology service and evaluated by a human uropathologist. Canine MIBC tumors were phenotypically characterized using either immunofluorescence (IF) or RNA in situ hybridization (RNA-ISH), including CD44, KRT7 and FOXA1, as well as specific markers characterizing the immune cell infiltrate, such as CD163 (tumor-associated macrophages), CD8a (cytotoxic T-lymphocytes), PD-L1 (immune-checkpoint protein) and TGFβ2 (cancer-associated fibroblasts). Results: Histologically, all canine MIBCs were classified as invasive, high-grade urothelial carcinomas (UC) with identical morphology to human MIBC. Interestingly, previously described histological variants of human MIBC tumors were also observed within the canine MIBC samples, such as glandular differentiation in 3/9 canine MIBC samples; epithelial-mesenchymal transition with sarcomatoid differentiation 1/9, squamous differentiation in 2/9 and micropapillary carcinoma in 1/9, all of which have been associated with poor clinical outcomes in human patients. IF was strongly positive for KRT7, FOXA1 and CD44, and immune cell markers CD163 and TGFβ2. However, CD8a was only weakly expressed (5/9) or negative, and PD-L1 was only positive in 4/9 canine MIBC biopsies. Conclusions: Canine MIBC tumors showed significant heterogeneity with highly similar histological variant morphologies to those reported in humans with MIBC. Furthermore, phenotypic characterization of immune cell infiltrates and checkpoint proteins suggest that the tumors were typically immunologically “cold”. These data further establish the utility of the spontaneous canine model of MIBC for pre-clinical investigation of novel therapeutic drug candidates, including immunotherapies. Citation Format: Karin Allenspach, John Cheville, Hannah Wickham, Christopher Zdyrski, Vojtech Gabriel, Basant Ahmed, Mei-Jyun Ciou, Fabrice Lucien, Igor Frank, Olufemi Fasina, Pablo Pineyro, Johnathan P. Mochel. Similar variant histology and immune cell infiltration in canine and human muscle-invasive bladder cancer [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2023; Part 1 (Regular and Invited Abstracts); 2023 Apr 14-19; Orlando, FL. Philadelphia (PA): AACR; Cancer Res 2023;83(7_Suppl):Abstract nr 2509.

Gastrointestinal stromal tumour-sclerosing epithelioid a rare variant: A case report

Gastrointestinal stromal tumours are the most common mesenchymal neoplasms of the gastrointestinal tract. They should be differentiated from other types of mesenchymal tumours. GISTs harbour specific activating mutations in the KIT or platelet-derived growth factor receptor a (PDGFRA) receptor tyrosine kinases, which makes them responsive to pharmacologic inhibitors. The advances in the identification of GISTs, by its molecular and immunohistochemical basis, have led to a better understanding of the rare gastrointestinal tract tumours with predictable behaviour and outcome, replacing the older terminologies like leiomyoma, schwannoma or leiomyosarcoma. This report presents a case of 64 yr. old male recently operated on for a rare sclerosing epithelioid variant of the gastrointestinal tumour.

Adenoid Cystic Carcinoma With Striking Tubular Hypereosinophilia: A Unique Pattern Associated With Nonparotid Location and Both Canonical and Novel EWSR1::MYB and FUS::MYB Fusions.

The classification of salivary gland tumors is ever-evolving with new variants of tumors being described every year. Next-generation sequencing panels have helped to prove and disprove prior assumptions about tumors' relationships to one another, and have helped refine this classification. Adenoid cystic carcinoma (AdCC) is one of the most common salivary gland malignancies and occurs at all major and minor salivary gland and seromucous gland sites. Most AdCC are predominantly myoepithelial and basaloid with variable cribriform, tubular, and solid growth. The luminal tubular elements are often less conspicuous. AdCC has largely been characterized by canonical MYB fusions, with MYB::NFIB and rarer MYBL1::NFIB. Anecdotal cases of AdCC, mostly in nonmajor salivary gland sites, have been noted to have unusual patterns, including squamous differentiation and macrocystic growth. Recently, this has led to the recognition of a subtype termed "metatypical adenoid cystic carcinoma." Another unusual histology that we have seen with a wide range of architecture, is striking tubular hypereosinophilia. The hypereosinophilia and luminal cell prominence is in stark contrast to the vast majority of AdCC that are basaloid and myoepithelial predominant. A total of 16 cases with tubular hypereosinophilia were collected, forming morular, solid, micropapillary, and glomeruloid growth, and occasionally having rhabdoid or Paneth-like cells. They were subjected to molecular profiling demonstrating canonical MYB::NFIB (5 cases) and MYBL1::NFIB (2 cases), as well as noncanonical EWSR1::MYB (2 cases) and FUS::MYB (1 case). The remaining 6 cases had either no fusion (3 cases) or failed sequencing (3 cases). All cases were present in nonmajor salivary gland sites, with seromucous glands being the most common. These include sinonasal tract (7 cases), laryngotracheal (2 cases), external auditory canal (2 cases), nasopharynx (1 case), base of tongue (2 cases), palate (1 case), and floor of mouth (1 case). A tissue microarray of 102 conventional AdCC, including many in major salivary gland sites was examined for EWSR1 and FUS by fluorescence in situ hybridization and showed that these novel fusions were isolated to this histology and nonmajor salivary gland location. In summary, complex and striking tubular hypereosinophilia and diverse architectures are present within the spectrum of AdCC, particularly in seromucous gland sites, and may show variant EWSR1/FUS::MYB fusions.

HISTOLOGICAL VARIANTS OF BLADDER TUMORS : DIAGNOSTIC, PROGNOSTIC AND THERAPEUTIC IMPLICATIONS – A CASE SERIES

Bladder cancer is one of the leading malignancies in the world associated with signicant morbidity and mortality. About 80% of a bladder cancer is urothelial variant, remaining 20% will have a divergent histological presentation. The pathophysiological study of these variants has recently increased because the therapeutic approach is not uniform for all variants. These variants have important diagnostic, prognostic and therapeutic implications. A molecular and genetic study of these variants will allow them to be better dened. Here we present four cases of Histological variants of bladder tumors with varying presentations in the department of urology, Madurai medical college, which is studied over the period of one year (2022-2023).

Rare clinical case of diffuse B-large cell lymphoma with laryngeal lesion

Diffuse large B-cell lymphoma (DLBCL) is the most common variant of non-Hodgkins lymphoma and accounts for 3060% of all non-Hodgkins lymphomas, with increasing incidence increases with age. Currently, the prognosis is assessed using the International Prognostic Index. In recent years, in all European regions, there has been a significant improvement in survival in DLBCL due to the addition of rituximab to standard chemotherapy (CHOP protocol). However, despite significant advances in treatment, long-term remission is only achieved in half of the patients. Laryngeal lesions with this variant of lymphomas is described only in a few articles. There is evidence of various chemotherapeutic regimens effective in this type of lymphoma; in some publications, the authors suggest the use of radiation therapy.&#x0D; The article presents a clinical case of successful treatment of a patient (chemotherapy + radiation therapy) with diffuse large B-cell lymphoma with laryngeal involvement. with resulting remission. In addition, a review of the literature describing the most common types of lymphomas is presented. The authors set a goal to raise the awareness of physicians about a rare histological variant of laryngeal tumors with a rapid increase in clinical manifestations and the development of life-threatening conditions.

Possibilities of Magnetic Resonance Imaging in the Diagnosis of Ductal Adenocarcinoma of the Prostate (Clinical Case)

This article presents a clinical case demonstrating the possibilities of MRI of the pelvic under the assumption of a histological variant of a prostate tumor. The main MR-patterns of the ductal adenocarcinoma, as well as the variants of their occurrence are considered. The authors present an analysis of data of differential diagnosis of various histological variants of prostate cancer.

A comprehensive immunohistochemical analysis of IMP2 and IMP3 in 542 cases of ovarian tumors

BackgroundIMP2 and IMP3 are mRNA binding proteins involved in carcinogenesis. We examined a large cohort of ovarian tumors with the aim to assess the value of IMP2 and IMP3 for differential diagnosis, and to assess their prognostic significance.MethodsImmunohistochemical analyses with antibodies against IMP2 and IMP3 were performed on 554 primary ovarian tumors including 114 high grade serous carcinomas, 100 low grade serous carcinomas, 124 clear cell carcinomas, 54 endometrioid carcinomas, 34 mucinous carcinomas, 75 mucinous borderline tumors, and 41 serous borderline tumors (micropapillary variant). The associations of overall positivity with clinicopathological characteristics were evaluated using the chi-squared test or Fisher’s Exact test.ResultsWe found IMP2 expression (in more than 5% of tumor cells) in nearly all cases of all tumor types, so the prognostic meaning could not be analyzed. The positive IMP3 expression (in more than 5% of tumor cells) was most common in mucinous carcinomas (82%) and mucinous borderline tumors (81%), followed by high grade serous (67%) and clear cell carcinomas (67%). The expression was less frequent in endometrioid carcinomas (39%), low grade serous carcinomas (23%), and micropapillary variant of serous borderline tumors (20%). Prognostic significance of IMP3 could be evaluated only in low grade serous carcinomas in the case of relapse-free survival, where negative cases showed better RFS (p = 0.033).ConclusionConcerning differential diagnosis our results imply that despite the differences in expression in the different ovarian tumor types, the practical value for diagnostic purposes is limited. Contrary to other solid tumors, we did not find prognostic significance of IMP3 in ovarian cancer, with the exception of RFS in low grade serous carcinomas. However, the high expression of IMP2 and IMP3 could be of predictive value in ovarian carcinomas since IMP proteins are potential therapeutical targets.

Risk of leptomeningeal metastasis in children with parameningeal rhabdomyosarcoma with intracranial spread

Introduction. Soft tissue tumors account for up to 8 % of all malignant neoplasms in children. According to the international histological classification, about 150 different morphological variants of soft tissue tumors have been registered, of which 45 % are rhabdomyosarcoma (RMS). Most often, RMS occurs in early childhood – the average age of patients at the time of diagnosis is 5 years. The incidence rate of RMS is 0.9 per 100,000 children. In 25 % cases, the initial diagnosis reveals distant metastasis to the lungs, bones, bone marrow, and 8 % – leptomeningeal metastasis. More than 7 % of patients with localized parameningeal RMS develop leptomeningeal metastasis, according to the Rhabdomyosarcoma Study Group. Purpose of the study – report the incidence, prognosis of leptomeningeal metastasis and treatment outcomes in children with intracranial spread of RMS. Materials and methods. The study included 45 patients aged 1 to 17 years with a diagnosis of RMS of parameningeal localization with intracranial spread, who received special treatment from 2003 to 2020. The study included 6 (20 %) patients in whom the tumor developed in early childhood (up to 3 years). The boys predominated – 25 (55.5 %) in the study. The primary tumor spread to the orbit in 7 (15 %) cases, the skull base in 7 (15 %) cases, the middle ear in 4 (8 %) cases, the nasopharynx in 3 (6 %) cases, and the brain substance was affected in 16 (35 %). Metastases in regional lymph nodes were determined in 7 (15 %) patients. Multiple metastatic lesions of bones and bone marrow – 4 (9 %) cases, leptomeningeal metastases – in 2 (4 %). 45 (100 %) patients received drug treatment according to the protocols approved by the Academic Council of the Research Institute of Pediatric Oncology and Hematology at N. N. Blokhin National Medical Research Centerof Oncology, Ministry of Health of Russia. Radiation therapy was performed in 33 (74 %) patients, while total focal dose of 50 Gy was administered to the primary tumor. Affected lymph nodes of the neck were irradiated in 10 (23 %) patients, total focal dose is 45.0 Gy. Surgical treatment was performed in 15 (34 %) patients. Multicomponent treatment was performed in 15 (34 %) patients. Results. During the observation period from 12 months to 14 years, 21 (49 %) patients are alive. 21 (51 %) patients died from tumor progression, 1 (2 %) died from complications of special treatment. Conclusions. The treatment of this group of patients is one of the urgent problems of pediatric oncology, which is based on polychemotherapy, supplemented by intrathecal administration of anticancer drugs and craniospinal irradiation. The development of new therapies requires a multidisciplinary approach to achieve a significant improvement in the survival of children with leptomeningeal metastases RMS of parameningeal localization.

"Non-phosphaturic" Variant of Phosphaturic Mesenchymal Tumor of the Middle Ear Expressing Multiple Phosphatonins.

"Non-phosphaturic" Variant of Phosphaturic Mesenchymal Tumor of the Middle Ear Expressing Multiple Phosphatonins.

Refractory Ascites Revealing an Ovarian Yolk Sac Tumor with Intraperitoneal Rupture

Yolk sac tumors of the ovary are rare entities that account for 2% - 5% of all ovarian tumors. They represent the second most common histological variant of malignant germ cell tumors of the ovary after dysgerminomas. Yolk sac tumors are most commonly encountered in women in the second and third decades. Microscopically, they are highly polymorphic and can present in a pure form or associated with another contingent of germ cell tumor. We report the case of a 26-year-old woman, who underwent surgery for a large right ovarian tumor rupturing into the peritoneal cavity. The ovarian tumor was revealed by ascites of great abundance and abdomino-pelvic pain. On histological examination, the diagnosis of yolk sac tumor in its pure and polyvesicular vitelline pattern was made. Through this observation, we propose to discuss the anatomoclinical particularities of these tumors by emphasizing the importance of histology for the diagnosis as well as the need of an early and appropriate management.