Mesenchymal Research Articles

Resection of pleural solitary fibrous tumors with distinct feeding vessels arising from the descending aorta: a case report

BackgroundPleural solitary fibrous tumors (pSFTs) are rare mesenchymal pleural tumors with rich vascularity. Surgical resection is the cornerstone of pSFTs treatment, requiring careful preoperative imaging to delineate lesion extent and vascular supply including contrast-enhanced computed tomography and other examinations depending on its size and characteristics.Case presentationThe patient was a 34-year-old female with a mass measuring approximately 67 × 42 × 65 mm in the left posterior mediastinum. Intraoperatively, the mass demonstrated rich vascularity. Two veins originating from the abdominal cavity entered the lower pole, one converged from the superior pole, draining into the brachiocephalic vein. Additionally, two arteries arose directly from the descending aorta, while several veins drained into the intercostal veins. In response to unexpected intraoperative vascular findings, vascular clips and silk threads were used to ligate them. Subsequently, the tumor was successfully dissected, with approximately 600 ml of blood loss recorded during the 4-hour surgery. The patient exhibited a satisfactory postoperative recovery, and follow-up spanning over six months revealed no indications of recurrence or metastasis.ConclusionsWe firstly present a case of successful resection of a pSFT in a 34-year-old woman with a distinct feeding vessel arising from the descending aorta and describe the related surgical procedures. This case highlights preoperative evaluation of mass vascularity based on contrast-enhanced computed tomography. When blood supply is challenging to clarify, angiography can offer additional details, especially for giant pSFTs. Despite this, thorough intraoperative exploration remains essential to detect unexpected vessels. Appropriate interventions should be customized based on the vascular origins and the surrounding anatomical structures.

Myofibroma with Atypical Features can Mimic Low-Grade Myofibroblastic Sarcoma: Two Paediatric Cases.

Myofibroma is a rare benign mesenchymal tumor that frequently affects the pediatric population with a predilection for the head and neck region. About 10% of myofibroma cases, presenting atypical features, can be misinterpreted as low-grade myofibroblastic sarcoma (LGMS), with therapeutic and prognostic impact. Here, we report two pediatric cases of benign myofibroblastic tumors, one of them showing typical characteristics of myofibroma, the other was an atypical myofibroma, which initially mimicked low-grade myofibroblastic sarcoma. Atypical myofibromas, despite its distinctive characteristics, follow a benign course, similar with typical myofibroma. It is necessary to distinguish atypical myofibroma from low-grade myofibroblastic sarcoma and avoid unnecessary invasive therapy.

A case of gastric granulosa cell tumor resected by endoscopic submucosal dissection.

Granular cell tumors, uncommon soft tissue growths, predominantly manifest in the subcutaneous and tongue areas, while those in the gastrointestinal tract are scarce and develop slowly. Patients typically show no distinct clinical symptoms and are hard to differentiate from gastrointestinal mesenchymal tumors, smooth muscle tumors, neural sheath tumors, and rhabdomyosarcomas using endoscopy. This paper details a case of a granular cell tumor in the stomach addressed through endoscopic submucosal dissection, focusing on its endoscopic attributes and clinicopathological traits.

Differential diagnosis of primary mesenchymal neoplasms of the breast.

While the majority of breast neoplasms originate from epithelial cells, a rare part of them originate from mesenchymal breast tissue. This study aims to present the histomorphological and clinicoradiological features of our series of primary mesenchymal breast tumors and to discuss the features of these tumors in light of the literature. Cases diagnosed as primary mesenchymal breast tumor in breast resection materials evaluated in our center between 2010 and 2023 were included. Of the 26 tumors included, 57.7% were diagnosed as benign and 42.3% as malignant mesenchymal tumor. Cases diagnosed as benign mesenchymal tumor were hemangioma, lipoma, extra-abdominal fibromatosis, leiomyoma, angiofibroma, lipomatosis, benign fibrous histiocytoma and granular cell tumor. Histopathological study results were compatible with angiosarcoma in 5 (45.4%), undifferentiated sarcoma in 3 (27.3%), myxofibrosarcoma in 2 (18.2%) cases and rhabdomyosarcoma in 1 (9.1%) case. Primary breast sarcomas are rarely seen compared to benign mesenchymal tumors and constitute less than 0.1% of all malignant breast tumors. When histomorphological findings suggestive of a mesenchymal tumor are observed in breast specimens, sufficient sampling should be performed to exclude a possible phyllodes tumor, and clinicoradiological findings should be examined to exclude the possibility of a metastasis.

Sclerosing epithelioid fibrosarcoma: a new mesenchymal non-meningothelial tumor involving the central nervous system?

Sclerosing epithelioid fibrosarcoma: a new mesenchymal non-meningothelial tumor involving the central nervous system?

TRPS1 expression in breast angiosarcoma.

Angiosarcoma (AS) of the breast, a rare mesenchymal neoplasm, exhibits distinct forms based on etiological and genetic features. While cases with typical clinical presentation and morphology allow for a straightforward diagnosis, challenges arise when clinical data are scarce, diagnostic material is limited, or morphological characteristics overlap with other tumors, including undifferentiated carcinomas. The trichorhinophalangeal syndrome protein 1 (TRPS1), once regarded as highly specific for breast carcinomas, now faces doubts regarding its reliability. This study explores TRPS1 expression in breast AS. Our investigation revealed that 60% of AS cases displayed TRPS1 labeling, contrasting with the 40% lacking expression. Scoring by four independent readers established a consensus, designating 12/35 ASs as unequivocally TRPS1-positive. However, uncertainty surrounded nine further cases due to a lack of reader agreement (being substantial as reflected by a kappa value of 0.76). These findings challenge the perceived specificity of TRPS1, shedding light on its presence in a noteworthy proportion of breast ASs. Consequently, the study underscores the importance of a comprehensive approach in evaluating breast ASs and expands the range of entities within the differential diagnosis associated with TRPS1 labeling.

Endoscopic Transpterygoid Approach to Meckel’s Cave: Technical Considerations and Retrospective Analysis of a Clinical Series

ObjectiveTumors located within the Meckel's cave (MC) pose a significant surgical challenge. Although several corridors to access this complex region have been described, the endoscopic transpterygoid approach (ETPA) and the endoscopic transorbital superior eyelid approach (ETOA) have emerged in recent years, as viable alternatives to traditional microsurgical transcranial approaches (MTA). To date, there is a limited literature on surgical series considering endoscopic-assisted approaches to the MC. MethodsWe conducted a retrospective analysis of patients with primary MC tumors treated at our Institution between 2015 and 2022, specifically those managed via the ETPA assisted by intraoperative Endoscopic Diving Technique (EDT). Lesion resection extent was evaluated using pre- and post-intervention radiological images and surgical videos. Moreover, a literature review on ETPA was performed. ResultsThis series comprises 7 patients affected by 4 trigeminal schwannomas, 1 benign notochordal cell tumor, 1 dermoid cyst and 1 mesenchymal tumor. In 71 % of cases, trigeminal neuralgia was the presenting symptom. Post-operative clinical improvement was observed in all but one case. Notably, 85.7 % of patients achieved total or near-total resection (NTR), with the remaining case undergoing subtotal resection (STR). No significant intraoperative complications occurred, and no recurrences were observed during the mean follow-up period of 41 months. ConclusionsIn selected cases, the ETPA offers a direct and safe path to lesions located into the MC. This approach circumvents complications and constraints associated with ETOA or MTA. Moreover, the use of the EDT reduces manipulation of critical neurovascular structures, enhancing the efficacy of the ETPA.

ETMR-30. CLINICAL AND MOLECULAR CHARACTERIZATION OFDICER-MUTANT CENTRAL NERVOUS SYSTEM SARCOMA

Abstract BACKGROUND Central nervous system (CNS) sarcomas are rare mesenchymal non-meningothelial tumors accounting for 0.2% of brain tumors. Due to their rarity, there is a lack of substantive clinical, histological and molecular data. METHODS Patients diagnosed with primary CNS sarcomas were identified through several international collaborations. DNA methylation profiles were generated using 850K microarray assays, followed by unsupervised hierarchical clustering and t-SNE analyses. Additionally, targeted DNA sequencing was employed to characterize the somatic landscape. Clinical data was collected and summarized using descriptive statistics, and survival estimates were calculated using the Kaplan-Meier method. RESULTS We analyzed DNA methylation data of 65 tumor samples. Clustering analyses demonstrated DICER-1 CNS sarcomas segregate into two distinct epigenetic subgroups. Copy number analysis demonstrated frequent CNV alterations and chromothripsis in 35% of the samples. DICER-1 mutations were present in 85% of cases and associated with frequent additional alterations in TP53 (65%) and KRAS (51%). The median age at diagnosis was 10.4 years (r: 0.4 - 71 y) and 52% (n=34) of subjects were male. Tumors were frequently (91%) located in the supratentorial compartment, frontal lobe involvement was noted in 62% of cases. Patients were treated with multimodal approaches including surgery, ICE chemotherapy, and focal radiation. At median follow-up time of 27.5 months, the 2-year progression-free and overall survival was 50.8% (r: 0.31-0.67) and 53.5% (r: 0.34-0.69) respectively. CONCLUSIONS DICER-1 CNS Sarcoma is an aggressive entity that segregates into two epigenetic subgroups, clinical and genotype correlations remain to be elucidated. Current multimodal approaches are only effective in a subset of patients. The identification of MAPK pathway alterations in most cases should be explored as a therapeutic avenue.

QOL-34. POST-TRAUMATIC GROWTH AND COPING STRATEGIES AMONG ADOLESCENTS AND YOUNG ADULTS SURVIVORS OF PEDIATRIC BRAIN TUMORS

Abstract BACKGROUND Pediatric brain tumor survivors (PBTS) often report late psychosocial effects following the disease and the treatments. Recent studies have shown that PBTS can experience growth in their personal and interpersonal dimensions and develop coping strategies that allow them to deal with the stress caused by cancer diagnosis and subsequent therapies. This study aimed to describe post-traumatic growth (PTG) experiences and coping strategies among adolescents and young adults (AYA) survivors of pediatric brain tumors. METHODS AYA survivors were assessed using Post-Traumatic Growth Inventory (PTGI) and Coping Inventory for Stressful Situations (CISS) questionnaires. They received evaluation at a median age of 20.2 years (range 13.6-28.7), with a median of 92 months from diagnosis. RESULTS Among 22 AYA survivors (M =14; F=8), the diagnosed tumor types were: germ cell tumor (10/22), low-grade glioma (4/22), embryonal tumor (3/22), high-grade glioma (2/22), craniopharyngioma (2/22), and mesenchymal tumor of the meninges (1/22).The domains of PTG in which positive changes were most frequently reported were Personal Strength (25%), Appreciation for Life (25%), and New Possibilities (23%). The less impacted domain was Spiritual Growth (9%). As regards the most adopted coping style, 38% showed higher values in the Distraction scale, 31% in the Task-Oriented scale, 15% in the Avoidance scale, and 15% in the Social Diversion scale. CONCLUSIONS PTG and coping are important indicators of psychosocial adaptation to difficult or stressful events. To develop specific interventions that enhance PTG, it is essential to understand which factors influence growth in PBTS. Our preliminary data show that all AYA survivors report PTG after treatments, at least in some domains. Further analysis is needed to identify which coping styles may influence the development of PTG.

Clear cell renal cell carcinoma metastasizing to the oral cavity: A diagnostic challenge of a case revealing an unusual clinical presentation

AbstractObjectiveDiagnosing lesions with unusual clinical presentation can be challenging, mostly for cases in which the inclusion of oral metastasis in the differential diagnosis is necessary.Materials and MethodsA 55‐year‐old man complaining of a large mass in the oral cavity was referred to the Hospital Dentistry Service. The patient reported bleeding episodes and pain, with a 5‐month evolution. Intraoral examination revealed a 5 cm tumour with purplish‐red and ulcerated focal areas at the right buccal mucosa. Differential diagnosis included malignant mesenchymal tumours, lymphoproliferative lesions, and metastasis of an occult primary lesion. Two biopsies were conducted, with the first one presenting an intense haemorrhage, and the second performed under general anaesthesia and difficult bleeding control.ResultsHistologic and immunohistochemical analysis diagnosed a clear cell carcinoma infiltration. A whole‐body CT scan reveals a renal tumour with multiple metastasis sites in the abdomen and bones. Metastatic clear cell renal cell carcinoma was finally confirmed, and the patient was followed with palliative care for 4 months.ConclusionA challenging diagnosis of a rare metastatic lesion in the oral cavity was conducted after two procedures under difficult bleeding conditions.

EPEN-20. LEVERAGING ABERRANT EXTRACELLULAR VESICLE SIGNALING FOR TARGETED DRUG REPURPOSING IN PEDIATRIC EPENDYMOMA

Abstract Increasing evidence highlights the diverse functions of extracellular vesicles (EVs) as intercellular messengers in all facets of cancer progression, pointing towards a potential new avenue in cancer treatment. Limited understanding of tumor-specific deregulations and lack of suitable drug compounds have hampered clinical translation of targeted interference with EV signaling. The most aggressive types of intracranial ependymoma (EPN) in children and adults are resistant to chemotherapy. Despite enormous diagnostic advancements in classification and stratification, EPN lack recurrent effective molecular targets precluding access of affected patients to precision-based oncology therapeutics. Here, we characterized the proteome of ninety-five EPN and five matching healthy control brain tissue samples. Employing a mulit-omic data integration approach, we identified EVs as an excessively augmented pathway on the functional level. Isolation and molecular characterization of EPN EVs combined with single cell sequencing analysis, and ultra-high content imaging unraveled perivascular mesenchymal cell populations as predominant EV originators. Targeting EV pathways through chemical inhibition of sphingomyelinases (SMPD1, SMPD2, SMPD3) including re-purposed FDA approved compounds revealed growth inhibition, reduced invasion capacity in vitro and significant survival probability in vivo. Transcriptomic analysis and scanning electron microscopy delineated transition of mesenchymal-to neuroepithelial subpopulations in cells and patient-derived xenograft (PDX) models of EPN upon reduction of EV release. This study showcases the inhibition of EV signaling as a promising therapeutic strategy against mesenchymal tumor persister cells, which are the suspected origins of repeated EPN relapses. Our study provides a framework to leverage cell state-specific vulnerabilities and drug repurposing to attack the most aggressive cell populations in cancers with unfavorable prognosis.

OTHR-08. CLINICAL MANAGEMENT OF TWO PEDIATRIC CASES OF INTRACRANIAL MESENCHYMAL TUMORS WITH FET::CREB FUSIONS

Abstract BACKGROUND Intracranial mesenchymal tumors (IMTs) with FET::CREB fusion are a newly described provisional entity lacking standard management options. This group of neoplasms occur in children and young adults, and is molecularly characterized by a FET family gene (most commonly EWSR1, rarely FUS) fused with a CREB family transcription factor (ATF1, CREB1, or CREM). Histologically, the Ki-67 index is typically low (<5%) and only rarely elevated (15-20%). Treatment consists of surgical resection. Cases achieving gross total resection (GTR) are observed without adjuvant therapy, while subtotal resection (STR) is followed by radiation therapy. Regardless of resection status, patients are at risk for local recurrence. METHODS Case report. RESULTS We present two patients with IMTs harboring FET::CREB fusions. Patient 1 is a 12-year-old male with a known left choroid plexus lesion and hydrocephalus, who presented with acute loss of balance, headaches, and emesis. CT head revealed progression of the choroid plexus lesion with intraventricular hemorrhage and worsening hydrocephalus. Following GTR of the tumor, pathology revealed an IMT without high-grade features and a Ki-67 index of 5%. RNA-sequencing revealed an EWSR1::ATF1 fusion. In consideration of GTR and the tumor being low-grade, he is being followed with surveillance scans. Patient 2 is a 14-year-old male who presented with headaches and seizures and was found to have an enhancing left occipital lesion on MRI. Following GTR, pathology revealed an IMT with abundant mitotic figures (15 per 10 high power fields), increased Ki-67 index of 30-40%, and a FUS::CREM fusion. Due to the high-grade histopathology, he was treated with focal proton beam radiotherapy (5400 cGyRBE). An MRI three months post-therapy was negative for tumor recurrence. CONCLUSIONS We describe two adolescents with IMTs harboring FET::CREB fusions and their management, including one with high-grade histology managed with upfront radiation therapy, which has not been previously reported in the literature.

QOL-33. CANCER WORRY AND PSYCHOPATHOLOGICAL SYMPTOMS IN ADOLESCENTS AND YOUNG ADULTS SURVIVORS OF PEDIATRIC BRAIN TUMORS

Abstract BACKGROUND Adolescent and young adult (AYA) survivors of pediatric brain tumors may experience cancer-related worries, defined as concerns about relapse and late effects of treatment. Late psychological effects include psychological distress, depression, immaturity, and poor development of social skills. Furthermore, pediatric brain tumor survivors (PBTS) are more vulnerable to developing long-term neurocognitive and psychosocial consequences compared both to the general population and survivors of other types of childhood cancer. The purpose of the study was to identify the presence of cancer worry and psychopathological symptoms in AYA survivors of pediatric brain tumors. METHODS AYA survivors were assessed using the Cancer Worry Scale and Child Behavior Checklist questionnaires. Neurocognitive evaluation was performed using the age-appropriate Wechsler Scale. RESULTS Among 22 AYA survivors (M =14; F=8), the diagnosed tumor types were: germ cell tumor (10/22), low-grade glioma (4/22), embryonal tumor (3/22), high-grade glioma (2/22), craniopharyngioma (2/22), and mesenchymal tumor of the meninges (1/22). Survivors received the assessment at a median age of 20.2 years (range 13.6-28.7), with a median of 92 months after diagnosis. Cancer worry was reported in 50% of patients. The psychological evaluation showed clinical levels of internalizing problems in 17% and externalizing problems in 8%. Depressive and anxiety problems were reported in 25% of our cohort. Neurocognitive assessment demonstrated an average tIQ of 104. CONCLUSIONS As reported in the literature, cancer worry can influence the psychosocial adjustment process, alter self-image, and influence lifestyle decisions in PBTS. These concerns can affect their life prospects and their ability to successfully complete developmental tasks. Therefore, these issues must be early identified to prevent, through targeted psychosocial interventions, the onset of troubles in having romantic relationships, finishing school, entering the job market, and obtaining a good quality of life.

Uterine Tumor Resembling Ovarian Sex-Cord Tumor (UTROSCT): A Rare Polyphenotypic Neoplasm.

Uterine tumor resembling ovarian sex-cord tumor (UTROSCT) is a rare form of uterine mesenchymal neoplasm. Although UTROSCT generally exhibits benign behavior with a favorable prognosis, this neoplasm is nevertheless classified as being of uncertain malignant potential, given its low rate of recurrence and the fact that it rarely produces metastases (e.g., in the lymph nodes, epiploic appendix, omentum, small bowel, subcutaneous tissue, lungs). Its histogenesis is also uncertain. Typically, UTROSCT occurs in peri-menopausal or menopausal women, but it can sometimes be observed in young women. Usually, this neoplasm can be found in the uterine corpus as a nodular intramural lesion, while it is less frequently submucosal, subserosal, or polypoid/intracavitary. UTROSCT can cause abnormal bleeding, pelvic pain, enlarged uterus, and mass sensation, but sometimes it is found purely by chance. This neoplasm can be considered polyphenotypic on morphological, immunohistochemical, and genetic analyses. Generally, upon microscopic examination, UTROSCT shows a predominant pattern of the cords, nests, and trabeculae typical of sex-cord tumors of the ovary, while immunohistochemically it is characterized by a coexpression of epithelial, smooth muscle, and sex-cord markers. The aim of this review is to report clinical and pathological data and genetic alterations to establish their impact on the prognosis and management of patients affected by this rare entity.

Dermatofibrosarcoma protuberance with a unique appearance mimicking neurofibroma arising from a conventional area.

A 21year-old Japanese man had a rapidly growing pedunculated soft tumor in the abdomen within the past year, the base of which had persisted for 17years. A skin biopsy of the soft part resembled neurofibroma. However, the excised specimen showed that the tumor base comprised spindle cells arranged in a storiform fashion and expanded around fat cells with a honeycomb infiltration. All areas of the tumor were positive for CD34 and negative for S-100. Finally, the tumor was diagnosed as a myxoid dermatofibrosarcoma protuberance arising from a conventional area. The pedunculated shape on the conventional part was unique. Myxoid dermatofibrosarcoma protuberances may pose a diagnostic challenge, particularly with a small biopsy. Thus, we should carefully consider dermatofibrosarcoma protuberances or other malignant mesenchymal tumors as a differential diagnosis in cases of low cellularity and abundant stromal tumors resembling neurofibromas.

Anticancer properties of 1,2,4-triazole derivatives (literature review)

Cancer is still one of the leading causes of death worldwide. Statistical data show that more than 130,000 people in Ukraine receive this diagnosis as a sentence every year. Cancer can affect any organ and eventually the whole body. In most cases, cancer is a tumor affecting epithelial, mucous, muscle, fat, and bone tissues. Also, processes related to malignant formations can occur in the blood and lymph. The main mechanism that triggers the process of formation of neoplasms is a violation of growth and, accordingly, cell division. They begin to grow uncontrollably, multiply, and can also migrate, spreading to nearby tissue structures, and later degenerate into atypical (malignant) ones. Cancer is one of the most life-threatening diseases. Literature data show that more than 90 % of cancer patients die due to chronic metastases. Cancer therapy involves the use of drugs that block the growth and spread of cancer cells by affecting certain molecular structures involved in the growth, progression, and spread of cancer. The diversity of the use of means for cancer therapy, namely, hormone therapy, the use of angiogenesis inhibitors and apoptosis inducers, has provided scientists with various options for finding effective means to fight this disease. Aim. The aim of the work is the analysis and systematization of new data on the anticancer activity of 1,2,4-triazole derivatives and the selection of the most promising directions for further scientific research based on the results of the analysis. Materials and methods. The study employed various methods, including analysis, information search, bibliosemantic analysis, descriptive techniques, and generalization. Research materials primarily comprised literary sources containing information on the promising array of new biologically active compounds, particularly 1,2,4-triazole derivatives, known for their targeted anticancer properties. Results. A literature search was carried out, 1,2,4-triazole derivatives with antitumor activity were analysed, characterized and summarized. Based on the study of available information and conducting an information and patent search, it was established that the market of Ukraine is insufficiently saturated with 1,2,4-triazole-containing drugs with anticancer activity of domestic production. It was determined that the development of new effective drugs based on 1,2,4-triazole and potential drugs with clearly directed anticancer activity requires a systematic approach both in conducting synthetic tests and screening new compounds for further structural optimization of molecules. Conclusions. The analysis of scientific literature in recent years devoted to the study of the anticancer activity of 1,2,4-triazole derivatives convincingly proves the prospect of further research in this direction. Numerous publications indicate the possibility of constant improvement of molecules with regard to the presence of anticancer activity. Domestic and foreign authors have clearly and argumentatively proven the perspective of the scientific direction for the creation of new original drugs to combat various oncopathologies.

Spindle Cell Lesions with Oncogenic EGFR Kinase Domain Aberrations: Expanding the Spectrum of Protein Kinase–Related Mesenchymal Tumors

EGFR aberrations are reported in a subset of myofibroblastic lesions with kinase domain duplication (EGFR-KDD) and exon 20 mutations being assigned to infantile fibrosarcomas (IFS), mesoblastic nephroma, and fibrous hamartoma of infancy (FHI), respectively. In this retrospective study, we correlated molecular findings with the histomorphology of 14 myofibroblastic lesions harboring such genetic changes identified by NGS. We additionally performed DNA methylation profiling (DNAmp) and immunohistochemistry. Lesions were from 10 males and 4 females with a mean age of 3 years (range, 0.3-14) and occurred subcutaneously in the upper limbs (n = 5), lower limbs (n = 3), back/thorax (n = 5), and the nasal cavity (n = 1). Eleven were cured by surgery, including 1 relapsed case. Two patients were lost to follow-up. One case was very recent, and the patient was biopsied. Histologically, the lesions showed a wide spectrum varying from classic FHI (n = 9) to IFS (n = 1) or lipofibromatosis-like tumors (LFT-like) (n = 2) or dermatofibrosarcoma protuberans-like (DFSP-like) (n = 1) to a predominantly myxoid spindle cell lesion (n = 1). Immunohistochemically, all neoplasms stained with CD34, whereas S100 was positive in 2/14. EGFR expression was observed in 9/10 cases. Molecularly, the IFS and 1 LFT-like harbored EGFR-KDD, whereas an exon 20 mutation was identified in all FHI, 1 LFT-like, the DFSP-like, and in predominant myxoid spindle cell lesion. By DNAmp, all but 2 cases formed a well-defined cluster, demonstrating that these lesions are also epigenetically related. In conclusion, EGFR kinase domain aberrations found in FHI, IFS, LFT-like, DFSP-like, and a spindle cell lesion with a predominant myxoid stroma of children and adolescents showed that these neoplasms with a broad morphologic spectrum belong to the group of protein kinase–related lesions with a distinct epigenetic signature. Molecular analyses, including DNAmp, help to identify and characterize this emerging category and become mandatory when targeted treatment is considered.

A Rare Case Of Early Gastrointestinal Stromal Tumor In 34-Year-Old Woman: A Caution For Adnexal Tumor Mimicry

Introduction: Gastrointestinal Stromal Tumors (GISTs) are the leading type of mesenchymal tumor in the gastrointestinal (GI) tract, constituting 80% of these tumors and 0.1% to 3% of all gastrointestinal malignancies. They arise from spindle-shaped mesenchymal cells known as interstitial cells of Cajal. Its onset can be at any age, with the peak occurring in the sixth decade. Case Presentation: We report the case of a 34-year-old woman with a complaint about a lump in her lower abdomen that has been progressively enlarging over the past year without any significant symptoms following the lump. Findings in the ultrasound suggest an ovarian mass. Laparotomy was carried out, and while no ovarian mass was found, instead a mass was identified in the mesentery of the small bowel. As a result, a complete excision of the tumor was performed, with histopathologic and immunohistochemical results confirming a GIST diagnosis. Conclusion: Representing a tiny percentage of gastrointestinal tumors, GISTs are rare. GISTs may be asymptomatic or present without any typical symptoms. Sole reliance on clinical and radiological investigations can cause them to be easily overlooked. Awareness of GIST is critical and care must be taken in diagnosis since other tumor can mimic GISTs in endoscopic, imaging, and histological findings.

Mesenchymal neoplasms of the tongue: A clinicopathologic study of 93 cases

Neoplasms of the tongue are relatively common, and the vast majority are epithelial in phenotype. Although uncommon, a diverse and distinctive array of mesenchymal neoplasms arises in this anatomic site. To increase our understanding of these lesions, we reviewed our experience of MNs of the tongue and described their clinicopathologic features. The pathology archives from 2005 to 2021 and the consultation files of one of the authors were queried for all MNs of the tongue. We reviewed the histologic slides and ancillary studies and obtained clinical data from the available medical records. Ninety-three cases were identified, and they form the study cohort - to our knowledge, this is the largest series of mesenchymal neoplasms of the tongue. Forty-eight patients were female, and forty-five were male, with a mean age of 51 years (range: 1–94 years). The tumors included 43 (46.2%) hemangiomas, 14 (15%) granular cell tumors, 8 (9%) lipomas, 4 (4.3%) schwannomas, 4 (4.3%) solitary fibrous tumors - all with low risk of progression based on risk stratification criteria, 2 (2.2%) lymphangiomas, 3 (3.2%) Kaposi sarcomas, 2 (2.2%) chondromas, 2 (2.2%) myofibromas, 1 (1.1%) solitary circumscribed neuroma, 1 (1.1%) perineurioma, 1 (1.1%) neurofibroma, 1 (1.1%) ectomesenchymal chondromyxoid tumor, 1 (1.1%) atypical glomus tumor with a NOTCH2 rearrangement and TLL2 mutation, 1 (1.1%) spindle cell rhabdomyosarcoma, 1 (1.1%) pleomorphic fibroblastic sarcoma, 1 (1.1%) malignant rhabdoid tumor, 1 (1.1%) leiomyosarcoma, 1 (1.1%) angiosarcoma, and 1 (1.1%) alveolar soft part sarcoma. Most of the patients underwent surgical excision, and 1 patient (with hemangioma) underwent embolization. On follow-up, the patient with spindle cell rhabdomyosarcoma developed postoperative numbness at the surgical site and was disease-free through 17 months of follow-up. The patient with leiomyosarcoma declined adjuvant radiation and developed metastasis to the lung at 22 months. The patient with alveolar soft part sarcoma had metastases to the lung at the time of diagnosis and received adjuvant chemotherapy. The remaining patients had no local or distant recurrence. MNs of the tongue are usually benign and characterized by either endothelial, adipocytic, or schwannian differentiation. The mainstay of treatment is surgical excision with the extent of excision determined by tumor type. Adjuvant therapy is reserved for high-grade sarcomas.

Breast parenchyma leiomyoma: A diagnostic challenge to treat

Breast leiomyoma is an infrequent entity and accounts for less than 1% of all breast tumors. The disease may affect both sexes with a preference for middle-aged women and its etiology still remains unclear. The nipple and subareolar area harbor the neoplasm in the majority of cases, however the intraparenchymal location, especially in older women has been noted. Histologically, this mesenchymal tumor derives from smooth muscle cells metaplasia or from myofibroblastic cells of the subareolar area. Triple assessment makes up the basic diagnostic tool. Surgical resection in macroscopic clear margins contributes not only to diagnosis but also rules out malignancy. Herein, we present our case of intramammary leiomyoma with a parallel review of world literature.