Sclerosing Epithelioid Mesenchymal Neoplasm of the Pancreas: Case Report and Literature Review of the Morphologic Characteristics.
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ABSTRACT:
SUBMITTER: Shitani M
PROVIDER: S-EPMC8195734 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:We have encountered pancreatic tumors with unique histologic features, which do not conform to any of the known tumors of the pancreas or other anatomical sites. We aimed to define their clinicopathologic features and whether they are characterized by recurrent molecular signatures. Eight cases were identified; studied histologically and by immunohistochemistry. Selected cases were also subjected to whole-exome sequencing (WES; n?=?4), RNA-sequencing (n?=?6), Archer FusionPlex assay (n?=?5), methylation profiling using the Illumina MethylationEPIC (850k) array platform (n?=?6), and TERT promoter sequencing (n?=?5). Six neoplasms occurred in females. The mean age was 43 years (range: 26-75). Five occurred in the head/neck of the pancreas. All patients were treated surgically; none received neoadjuvant/adjuvant therapy. All patients are free of disease after 53 months of median follow-up (range: 8-94). The tumors were well-circumscribed, and the median size was 1.8?cm (range: 1.3-5.8). Microscopically, the unencapsulated tumors had a geographic pattern of epithelioid cell nests alternating with spindle cell fascicles. Some areas showed dense fibrosis, in which enmeshed tumor cells imparted a slit-like pattern. The predominant epithelioid cells had scant cytoplasm and round-oval nuclei with open chromatin. The spindle cells displayed irregular, hyperchromatic nuclei. Mitoses were rare. No lymph node metastases were identified. All tumors were positive for vimentin, CD99 and cytokeratin (patchy), while negative for markers of solid pseudopapillary neoplasm, neuroendocrine, acinar, myogenic/rhabdoid, vascular, melanocytic, or lymphoid differentiation, gastrointestinal stromal tumor as well as MUC4. Whole-exome sequencing revealed no recurrent somatic mutations or amplifications/homozygous deletions in any known oncogenes or tumor suppressor genes. RNA-sequencing and the Archer FusionPlex assay did not detect any recurrent likely pathogenic gene fusions. Single sample gene set enrichment analysis revealed that these tumors display a likely mesenchymal transcriptomic program. Unsupervised analysis (t-SNE) of their methylation profiles against a set of different mesenchymal neoplasms demonstrated a distinct methylation pattern. Here, we describe pancreatic neoplasms with unique morphologic/immunophenotypic features and a distinct methylation pattern, along with a lack of abnormalities in any of key genetic drivers, supporting that these neoplasms represent a novel entity with an indolent clinical course. Given their mesenchymal transcriptomic features, we propose the designation of "sclerosing epithelioid mesenchymal neoplasm" of the pancreas.
| S-EPMC7000300 | biostudies-literature
Project description:Sclerosing epithelioid fibrosarcoma (SEF) is a rare and aggressive soft tissue sarcomathought to originate in fibroblasts of the tissues surrounding tendons, ligaments and muscles. Minimally responsive to conventional cytotoxic chemotherapies, greater than 50% of SEF patients experience relapse and/or metastatic disease. SEF is most commonly discovered in middle-aged and elderly adults, but also rarely in children. A common gene fusion occurring between the EWSR1 and CREB3L1 genes has been observed in 80-90% of SEF cases. We describe here the youngest SEF patient reported to date (a 3-year-old Caucasian male) who presented with numerous bony and lung metastases. Additionally, we perform a comprehensive literature review of all SEF-related articles published since the disease was first characterized. The patient described in this report experienced persistent disease progression despite being heavily treated
with multiple surgeries, radiation, numerous chemotherapies and targeted therapeutics. Primary tumor, metastatic and relapse sites were sequenced by whole genome, whole exome, and deep transcriptome next generation sequencing with comparison to a patient-matched normal blood sample. Consistent across all sequencing analyses was the disease-defining EWSR1-CREB3L1 fusion as a single feature consensus. We provide an analysis of our genomic findings and a discussion as to potential therapeutic strategies for SEF.
| EGAS00001005214 | EGA
Project description:Sclerosing epithelioid fibrosarcoma (SEF) is a rare and aggressive soft tissue sarcomathought to originate in fibroblasts of the tissues surrounding tendons, ligaments and muscles. Minimally responsive to conventional cytotoxic chemotherapies, greater than 50% of SEF patients experience relapse and/or metastatic disease. SEF is most commonly discovered in middle-aged and elderly adults, but also rarely in children. A common gene fusion occurring between the EWSR1 and CREB3L1 genes has been observed in 80-90% of SEF cases. We describe here the youngest SEF patient reported to date (a 3-year-old Caucasian male) who presented with numerous bony and lung metastases. Additionally, we perform a comprehensive literature review of all SEF-related articles published since the disease was first characterized. The patient described in this report experienced persistent disease progression despite being heavily treated
with multiple surgeries, radiation, numerous chemotherapies and targeted therapeutics. Primary tumor, metastatic and relapse sites were sequenced by whole genome, whole exome, and deep transcriptome next generation sequencing with comparison to a patient-matched normal blood sample. Consistent across all sequencing analyses was the disease-defining EWSR1-CREB3L1 fusion as a single feature consensus. We provide an analysis of our genomic findings and a discussion as to potential therapeutic strategies for SEF.
| EGAS00001005215 | EGA
Project description:BackgroundSclerosing epithelioid fibrosarcoma (SEF) is an extremely rare, aggressive malignant subtype of fibrosarcoma. Only dozens of cases of primary SEF in the bone have been reported so far, without case involving fibula reported in literature to date. Herein we report the first case of primary SEF in the right fibula in a 19-year-old man. In this case report, we firstly give a comprehensive description of fibula SEF, including its complete clinical course and radiological findings.Case presentationA 19-year-old man presented with a half-year history of soreness in the right lower leg. Contrast-enhanced computed tomography (CE-CT) and magnetic resonance imaging (MRI) of the right lower leg were performed. Based on the radiological examinations, a diagnosis of malignant tumor arising in the fibular diaphysis was made. Final diagnosis of primary SEF in the right fibula was confirmed by histopathological and immunohistochemical examinations after surgical resection. The patient had no signs of recurrence or metastasis during a 24-month follow-up.ConclusionWe report an exceedingly rare case of primary SEF in the right fibula and its radiological features with CE-CT and MRI.
| S-EPMC7708320 | biostudies-literature
Project description:BackgroundSolid and papillary neoplasm of the pancreas (SPNP) is a rare pancreatic tumor, well known for its predilection for young women and large volume. The tumor has a favorable prognosis and differentiating it from other pancreatic tumors with aggressive behavior is necessary.Case descriptionWe present the case of a 34-year-old female without relevant background. She presented with abdominal pain and by fine needle biopsy was diagnosed as ductal carcinoma. During the evaluation, an abdominal ultrasound revealed a pancreatic growth that was "bulky, solid, with irregular margins, in homogeneously hypoechoic, with anechoic areas of necrosis, located lateral to the tail of the pancreas and medial to the upper pole of the left kidney and the lower splenic pole". The patient was admitted, and surgery was performed. At the laparotomy, a tumor of 15 cm in diameter was detected. The tumor was located in the tail of the pancreas, was well encapsulated, and of solid consistency. Caudal pancreatectomy with a splenectomy was carried out. The final pathology diagnosis was a SPNP.ConclusionsIn the presence of a large abdominal mass of pancreatic relevance, even in older women, the possibility of having an SPNP should always be evaluated. Given the low malignancy potential of this tumor and the excellent prognosis with radical surgical treatment, the preoperative diagnosis should always be particularly accurate. Surgical resection is recommended as the treatment of choice.
| S-EPMC9634458 | biostudies-literature
Project description:Introductionand importance: Solid pseudopapillary tumor of the pancreas (SPN) or Frantz's tumor is a rare tumor of low malignant potential common in young women. The aim of this paper is to present and discuss a case of a solid pseudopapillary tumor of the pancreas occurring in a 19-year-old female.Case presentationA 19-year-old girl presented to our department with epigastric pain for two months, she had no clinical findings on physical examination. Abdominal Computed tomography scan (CT scan) showed the presence of a well-defined tumor arising from the pancreatic head measuring 9,1 × 8.1 × 8.5 cm, heterogeneous and with solid and necrosis components. The patient was subjected to surgery and histopathological examination confirmed the diagnosis of a pseudopapillary tumor of the pancreas.Clinical discussionThis is an interesting case report of a rare tumor, in so far as without any adjuvant chemotherapy Prognosis of the tumor is better than other pancreatic tumors. surgical resection seems to be the best strategy in the management of SPT.ConclusionClose follow up is necessary for early detection of the recurrence and metastasis.
| S-EPMC8361288 | biostudies-literature
Project description:UnlabelledIn sclerosing epithelioid fibrosarcoma (SEF), a rare variant of low-grade fibrosarcoma, treatment results and therapeutic options are poorly characterized. We systematically analyzed the data of all 89 patients (43 female, 46 male; mean age, 47 years [range, 14-87 years]) reported in the literature concerning clinical presentation, histopathology, differential diagnosis, treatment, survival rates, and prognosis, and we present an additional case. Information detailing treatment, disease control, and followup was available in 60 (67%), 75 (84%), and 68 patients (76%), respectively. Case history was variable with one-third of patients reporting a painful, enlarging mass. Ten patients (13%) presented with metastases, 23 (31%) had metastases develop after diagnosis, and 28 (37%) had local recurrence. Low cellularity, mild pleomorphy, and sclerotic hyaline matrix of SEF suggest a benign clinical behavior, and cell morphology allows for the wide differential diagnosis of benign, pseudosarcomatous, and malignant proliferations. In addition to surgery, 11 patients (15%) had chemotherapy, 22 (29%) had postoperative radiation therapy, and three (4%) had a combination of both. Twenty-three patients (34%) died from their disease after a mean of 46 months, 24 (35%) were alive with disease, and 20 (31%) were alive without evidence of disease. Patients with SEF of the head and neck had the worst prognosis.Level of evidenceLevel III, prognostic study. See the Guidelines for Authors for a complete description of levels of evidence.
| S-EPMC2384045 | biostudies-literature
Project description:Sclerosing epithelioid fibrosarcoma is an ultra-rare and aggressive high-grade fibrosarcoma that was originally described in 1995. More than 100 cases are documented worldwide, with the most extensive case series reporting a high rate of recurrence and metastasis. ALK mutations are commonly seen in soft-tissue sarcomas; however, this is the first known case of an ALK V757M mutation. Here, we present a case using crizotinib in treating an ALK-positive sclerosing epithelioid fibrosarcoma refractory to all traditional treatment options.
| S-EPMC10601707 | biostudies-literature
Project description:Multiple primary tumors, especially quadruple primary tumors, are extremely rare clinically, and there is no standard protocol for clinical management. We described a case in which a bone tumor, a malignant bladder tumor, a malignant melanoma, and an intrahepatic cholangiocarcinoma were all original malignancies. The patient is a 79-year-old woman who underwent surgery for a left middle finger bone tumor 45 years ago, as well as surgery for bladder malignancy and postoperative adjuvant chemotherapy 15 years ago, and the precise pathological results and treatment are unclear. One year ago, she underwent amputation of the toe due to a black mass of the right toe and was diagnosed pathologically as a freckled malignant melanoma of the extremity. Prior to postoperative adjuvant systemic medication, PET/CT revealed malignancy in the lateral segment of the left lobe of the liver, and multiple lymphadenopathies in the left parotid gland, hilar hepatic, and retroperitoneal region. Intrahepatic cholangiocarcinoma was found in the liver puncture biopsy's pathology report. The serum sample's next-generation sequencing (NGS) revealed a missense mutation, designated P.G12V, in exon 2 of the KRAS gene. Based on patients with malignant melanoma and intrahepatic cholangiocarcinoma, she received 6 cycles of GP (gemcitabine/cisplatin) combined with Camrelizumab systemic therapy, and followed by 3 cycles of Camrelizumab maintenance therapy, the efficacy was evaluated as stable disease (SD) during treatment. When the 4th cycle of Camrelizumab was suggested for maintenance therapy, the efficacy evaluation revealed that the tumor had greatly advanced. The patient refused to continue anti-tumor therapy and passed away from septic shock and multiple organ failure 3 months later. The patient had satisfactory efficacy and lived for a year after being diagnosed with two primary cancers. Despite the rarity of quadruple primary tumors and the lack of a conventional clinical management strategy, we postulate that germline mutations in the KRAS gene may be closely associated with the formation and development of multiple primary tumors. NGS testing is necessary for clinical management, and systemic treatment based on concurrent multiple main tumors is the key to improving prognosis.
| S-EPMC9846320 | biostudies-literature
Project description:Intraductal tubulopapillary neoplasms of the pancreas are very rare tumors characterized by intraductal tubulopapillary growth, ductal differentiation, scant intracellular mucin production and cellular dysplasia. Here, we report the first case of an intraductal tubulopapillary neoplasm of the pancreas with clear cell morphology. The tumor was detected during the diagnostic work-up of acute pancreatitis in a 43- year old female. Histological examination revealed a tumor with the typical architecture of an intraductal tubulopapillary neoplasm of the pancreas with tumor cells showing abundant clear cytoplasm and Di-PAS negativity. Immunohistochemistry revealed positivity for Pan-CK, CK7, CK8/18, MUC1, MUC6, carbonic anhydrase IX, CD10, EMA, β-catenin and e-cadherin. Sanger sequencing did not detect mutations for β-catenin, BRAF, KRAS, PIK3CA and GNAS. Altogether, histology, immunohistochemical expression profile (MUC1+, MUC6+, MUC2-, MUC5AC-, thrypsin-, chymotrypsin-, CDX2-) and sequencing results led to the diagnosis of intraductal tubulopapillary neoplasm. However, the neoplasm consisted of cells showing abundant clear cytoplasm, a morphological pattern not being described so far in the current classification of pancreatic intraductal neoplasms. Potential differential diagnosis and the molecular basis of clear cell morphology are discussed. In conclusion, we consider this tumor as intraductal tubulopapillary neoplasm of the pancreas with unique clear cell phenotype. After surgery and without adjuvant therapy, the patient's clinical course has been uneventful for over two years now.Virtual slidesThe virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1051828790117127.
| S-EPMC3937101 | biostudies-literature