Bronchiolar adenomas (BA) - A detailed radio-pathologic analysis of six cases and review of literature.

Bronchiolar adenomas (BAs)/ciliated muco-nodular papillary tumors (CMPTs), are small, peripheral lung nodules arising predominantly in the elderly that follow a benign course. They can be mistaken for adenocarcinomas on frozen section. Immunohistochemistry (IHC) for basal cell markers highlights the continuous layer of basal cells underlying the tumor cells in BAs. BAs are further subdivided into proximal-type and distal type. Six BAs were retrieved from the pathology archives. The cases were classified based on morphology into proximal and distal BAs. The clinical and radiological features were reviewed. Immunohistochemistry and special stains were performed. The most common radiological picture of BA/CMPT was of a solid nodule with SUVmax < 3 as seen in 60% cases. 40% cases showed cavitation on CT. On histological examination, four cases were morphologically classified as proximal BAs and two as distal BAs. In proximal BAs, TTF1 was focally positive only in the basal cells in three of four. The mucin stained acidic. In distal BAs, TTF1 was diffusely positive in both basal and luminal cells. There was scant intracellular neutral mucin. Both the distal BAs had concomitant neuroendocrine tumors in the same lobe. Though the number of cases evaluated in this study is too low to be statistically significant, this study provides additional evidence to the concept of BA classification based on site specific histology and supplementary immunohistochemistry and reiterates the radiological features that may help distinguish it from malignant lesions.

Osteoclast-rich, proximal-type epithelioid sarcoma: clinicopathologic features of 3 unusual cases expanding the histomorphological spectrum.

Epithelioid sarcoma (ES) displays a wide clinicopathologic spectrum. On histopathology, osteoclast-like giant cells have been rarely described in these tumors. A 45-year-old gentleman presented with a perineal swelling of 6-month duration. Radiologic imaging disclosed a large, highly vascular tumor mass in his perineal region that was diagnosed elsewhere as pigmented villonodular synovitis. A 58-year-old lady presented with a recurrent tumor in her right inguinolabial region for which she underwent multiple tumor resections in the past. A 33-year-old lady presented with a right inguinal swelling of 1-month duration that was diagnosed elsewhere as a non-Hodgkin lymphoma on fine needle aspiration cytology. Histopathologic examination of tumors in all the 3 cases revealed epithelioid to "rhabdoid-like" cells arranged in a diffuse pattern interspersed with many osteoclast-like giant cells. The first tumor also revealed focal pseudoangiosarcomatous areas and heterotopic bone formation. By immunohistochemistry, tumor cells in all 3 cases were positive for AE1/AE3, epithelial membrane antigen, and CD34 and were completely negative for INI1/SMARCB1. CD68 immunostaining in 2 tumors highlighted osteoclast-like giant cells. Osteoclast-rich, proximal-type ES are unusual tumors, indicative of an expanding spectrum of ESs. Awareness of this histopathologic pattern and diagnostic confirmation with necessary immunohistochemical stains is crucial to avoid misinterpretation, as these tumors are clinically aggressive and are treated with wide local excision and optional adjuvant radiation therapy.

Proximal-type epithelioid sarcoma of the perineum: A case report and literature review.

Proximal-type epithelioid sarcoma of the perineum is a rare soft-tissue malignancy, and only 55 cases have been reported in the English literature to date. This tumor has an indetectable early symptom and frequent recurrences. Here, we present the case of a 31-year-old man with proximal-type epithelioid sarcoma of the perineum who underwent wide excision. Further, we reviewed the current literature regarding differential diagnosis and management of this disease.

Proximal-type epithelioid sarcoma of vulva - Case series of a rare tumor.

Epithelioid sarcoma (ES) is rare and aggressive soft tissue neoplasm characterized by tumor cells showing epithelioid morphology and immunohistochemically, characteristic loss of INI1/ SMARCB1 in most cases. The proximal-type ES usually involves the deeper soft tissues of the vulva or perineum is an extremely rare entity with diagnostic challenges. Surgery is the mainstay of treatment in localized diseases. Radiation and chemotherapy are used in the advanced and metastatic setting, however, their role in the adjuvant setting is uncertain. Anthracycline and gemcitabine-based chemotherapy are given in metastatic and recurrent tumors. We report 4 cases of ES treated over a period of 6 years at our center. All the cases initially presented at a local hospital with vulvar swelling with a benign mimic (3/4) or squamous cell carcinoma (1/4). The median age of diagnosis was 34 years (range 17-80). The diagnosis was established with epithelioid morphology of tumor cells and immunohistochemically characteristic loss of INI1/SMARCB1 in all cases. 3 cases were treated with upfront surgery and two of them received adjuvant radiotherapy. One case received upfront palliative therapy due to lung metastasis at the time of presentation. On median follow-up of 24 months (2-63), 2 cases were disease-free. One case had a recurrence in the lungs and chest wall after a disease-free interval of 63 months. She underwent surgical excision of metastatic deposits, however developed second lung recurrence after 3 months and is being treated with Adriamycin-based chemotherapy. All patients are alive at the last follow-up.

Successful management of vulvar proximal-type epithelioid sarcoma in pregnancy.

Vulvar proximal-type epithelioid sarcoma during pregnancy is extremely rare; only two reports are available to date. Herein, we describe a 36-year-old woman who presented with a pigeon-egg-sized solid mass with cystic component on the left labia majora at 18 weeks of gestation. The patient underwent tumor resection at 23 weeks of gestation and was diagnosed with epithelioid sarcoma, proximal-type. At 29 weeks of gestation, elective cesarean section, radical local resection of the vulva and vagina, and inguinal lymphadenectomy were performed. After surgery, she underwent six courses of adjuvant chemotherapy (doxorubicin 60 mg/m2 and cisplatin 50 mg/m2) every four weeks. The patient and her baby survived with neither recurrence nor complications until 5 years. Aggressive management for proximal-type epithelioid sarcoma, such as early termination of pregnancy and operation, can improve maternal outcomes.

Clinicopathological Characteristics, Treatment, and Survival in Patients Diagnosed With Proximal-Type Epithelioid Sarcoma: A Case Report and Systematic Review.

Epithelioid sarcoma is a rare entity that shows a predilection for the young and middle-aged population. There are two subtypes, i.e., the distal or conventional type, which is located in distal extremities, and the proximal type, located in proximal areas of the extremities, pelvis, perineal, and genital region. The latter is characterized by more aggressive behavior, a higher recurrence rate, and poor prognosis. Histopathological and immunohistochemical diagnoses are key to correct and timely treatment and a higher survival rate. We report a case of a 41-year-old man who presented a palpable progressive growth mass in the hypogastrium. The disease time was of nine months, and the tumor was resected, but it recurred a few months later in the same location. Computed tomography (CT) scans showed images suggestive of lung metastasis and the patient had to undergo a second surgery. He received eight cycles of chemotherapy and a subsequent CT scan control showed the progression of the disease, so a new chemotherapy regimen was established. The patient received three cycles of chemotherapy without improvement, so he decided to discontinue treatment. His last outpatient medical consultation was in January 2022. A systematic review of the studies published in PubMed and Google Scholar was performed. We identified 291 articles, but only 41 reports and case series were included, with a total of 55 patients. It is important to include this type of tumor in the differential diagnosis of epithelial tumors due to its aggressive behavior. Correct and timely diagnosis is crucial to obtain lower recurrence rates, lower mortality, and higher survival rates in these patients.

Proximal-type epithelioid sarcoma in pubic region expressing L-type amino acid transporter 1: A case report.

Proximal-type epithelioid sarcoma is an aggressive malignant soft-tissue neoplasm, a "proximal" variant of epithelioid sarcoma, resistant to multimodal therapy and involved in early tumor-related death. Pertinent treatments are, therefore, continually being explored. A 24-year-old woman with nonmetastatic proximal-type epithelioid sarcoma, originating subcutaneously on the right side of the vulva, underwent surgical resection; the lesion recurred, however, leading to death 3 months after the second surgery. Here described is a case of proximal-type epithelioid sarcoma expressing L-type amino acid transporter 1 (LAT1) that transports essential amino acids and p-borono-L-phenylalanine (BPA)-the chemical compound used in boron neutron capture therapy (BNCT)-and is highly expressed in many malignant tumors. Recently, LAT1 has drawn attention, and relevant treatments have been studied-LAT1 inhibitor and BNCT. LAT1 expression in proximal-type epithelioid sarcoma may lead to cogent treatments for the disease.

Primary pulmonary epithelioid sarcoma: a case report.

BACKGROUND: Epithelioid sarcoma most frequently occurs in the dermal or subcutaneous area of the distal extremities. To date, there have been three cases of primary pulmonary epithelioid sarcoma reported. We report a case of epithelioid sarcoma that is considered a primary lung tumor. CASE PRESENTATION: A 65-year-old asymptomatic Asian male patient underwent chest radiography during a routine health examination, and an abnormal mass was detected. His past medical history was unremarkable. He smoked 40 cigarettes every day and had slightly obstructive impairment on spirometry. He worked as an employee of a company and had no history of asbestos exposure. He underwent partial resection of the right lung by thoracoscopy. A histological examination of the tumor revealed a cellular nodule of epithelioid and spindle-shaped cells. Some of the tumor cells displayed rhabdoid features and reticular arrangement in a myxomatous stroma. Immunohistochemically, the tumor cells were positive for vimentin, smooth muscle actin (SMA), CD34, and epithelial membrane antigen (EMA); loss of the BAF47/INI1 protein in the tumor cells was also confirmed. A diagnosis of epithelioid sarcoma was established. Careful screening by whole-body positron emission tomography for another primary lesion after surgery did not detect any possible lesion. He had no cutaneous disease. CONCLUSION: To our knowledge, this is the fourth case of a proximal-type epithelioid sarcoma considered as a primary lung tumor.

A proximal type epithelioid sarcoma of the vulva with multiple distant metastases: A case report and review of the literature.

Epithelioid sarcomas (ESs) of the vulva are extremely rare soft tissue tumors characterized by an aggressive clinical course and a poor prognosis. The proximal type of ES occurs in the trunk and external genital area and has higher recurrence and distant metastasis rates than the distal type, which is found in the upper and lower extremities. We describe a case of a vulvar ES in a 24-year-old patient who was referred from the department of plastic surgery with protruding mushroom-like lesions in multiple areas, including the lower abdomen, whole vulva, anus, and both inguinal lesions. A biopsy of the lesions confirmed a proximal-type ES. Computed tomography and magnetic resonance imaging revealed multiple metastatic lesions in several regions, including the perineum, vagina, and inguinal regions; nodal metastases in the left external iliac and right inguinal region; and distant metastases in the lungs, pleura of the left lung, bones, and soft tissue. The patient underwent active palliative radiotherapy, followed by chemotherapy, and showed a partial response to treatment. Nineteen months after the initial diagnosis, the patient expired due to cancer progression and pneumothorax.

Balloon Pulmonary Angioplasty in Technically Operable and Technically Inoperable Chronic Thromboembolic Pulmonary Hypertension.

BACKGROUND: In this study, we aimed to assess the efficacy and safety of balloon pulmonary angioplasty (BPA) in patients with technically inoperable distal-type chronic thromboembolic pulmonary hypertension (d-CTEPH) and technically operable proximal-type disease (p-CTEPH) by analyzing the results of BPA treatment in two collaborating CTEPH referral centers. METHODS AND RESULTS: We assessed hemodynamic results, functional efficacy, complication and survival rate after BPA treatment in 70 CTEPH patients (median age 64 years; (interquartile range (IQR): 52-73 years)), of whom 16 (median age 73 years; (QR 62-82 years)) were in the p-CTEPH subgroup. Altogether, 377 BPA procedures were performed, resulting in significant (p < 0.001) improvement in mean pulmonary artery pressure (mPAP 48.6 ± 10 vs. 31.3 ± 8.6 mmHg), pulmonary vascular resistance (694 ± 296 vs. 333 ± 162 dynes*s*cm-5), six-minute walk test (365 ± 142 vs. 433 ± 120 metres) and N-terminal pro B-type natriuretic peptide (1307 (510-3294) vs. 206 (83-531) pg/mL). The rate of improvement did not differ between the sub-groups. Lung injury episodes and severe hemoptysis were similarly infrequent in d-CTEPH and p-CTEPH (6.4% vs. 5%; p = 0.55 and 1.0% vs. 2.5; p = 0.24, respectively). There was no significant difference between the sub-groups regarding survival (p = 0.53 by log-rank test). CONCLUSION: BPA may be beneficial in patients with p-CTEPH who cannot undergo pulmonary endarterectomy (PEA). Larger long-term studies are needed to better define the efficacy, safety, and optimal BPA procedural standards in this population.

Magnetic resonance imaging features of "Proximal" hirayama disease: Case report and literature review.

BACKGROUND: Proximal "Hirayama" disease (PHD) is characterized by proximal upper extremity atrophy. It is a rare variant of Hirayama disease (HD) which involves the proximal upper limb. Recognition of PHD's unique magnetic resonance (MR) findings is critical as the treatment options differ versus classical HD. CASE DESCRIPTION: A 17-year-old male presented with gradual progressive upper extremity weakness and atrophy. On MR, PHD was demonstrated by C4-C5 kyphosis with a posterior epidural soft-tissue mass compressing the C4-C5 cord resulting in gliosis. As the patient declined surgery, he was followed for 1 year with a cervical collar during which time his deficit stabilized. CONCLUSION: PHD, characterized by proximal upper extremity weakness and atrophy, has characteristic MR findings of kyphosis associated with cord compression and ischemia/gliosis. Select patients as the one we described who decline surgery may stabilize radiographically and clinically with the protracted utilization of a cervical collar.

The natural history of epithelioid sarcoma. A retrospective multicentre case-series within the Italian Sarcoma Group.

INTRODUCTION: This case-series is aimed to describe the natural history of epithelioid sarcoma (ES) and to provide insights into the differential clinical behaviour of its two variants ("classic-type" and "proximal-type"). The value of a subtype-adapted grading system based on pathological features is explored. METHODS: Data from consecutive, primary, localised, INI1-deleted ES operated at three Italian sarcoma reference centres (1995-2015) were included. Centralised pathological review was performed. Classic-type ES was broken down into "high-grade" and "low-grade", according to number of mitoses, evidence of necrosis and nuclear atypia. Five- and 10-year overall survival (OS) and crude cumulative incidence (CCI) of local recurrence (LR) and distant metastasis (DM) were estimated. RESULTS: Fifty-two patients were included. 5- and 10-year OS estimates were 70% and 47% in the whole series, 57% and 37% in patients with proximal-type ES, 77% and 54% in patients with classic-type ES (P = 0.02). In classic-type ES, 5- and 10-year OS was higher for low-grade (95% and 72%, respectively) than high-grade tumours (P = 0.002). 5- and 10-year CCI estimates for LR were 21% and 33% in the whole series. 5- and 10-year CCI estimates for DM were 35% and 39% in the whole series, both 28% in classic-type ES, 47% and 59% in proximal-type ES (P = 0.03). CONCLUSIONS: Suffering from a proximal- or a classic-type is the stronger predictor of outcome in patients with localised ES, with proximal-type ES patients having lower survival due to a higher tendency toward metastatic spreading. However, the "high-grade" classic-type ES was associated with outcomes close to proximal-type ES.

Proximal-type epithelioid sarcoma in the maxillary sinus: an unusual presentation.

Epithelioid sarcoma (ES) is a rare histological type of soft tissue sarcoma presenting as a subcutaneous or deep dermal mass in the distal extremities of young adults. Recently, a more aggressive, so called 'proximal-type' ES has been described. The literature is limited on the clinical features and management of ES originating in the head and neck area. We here report a case of 16-year-old female who initially presented with progressive swelling and pain in the left cheek. On physical and radiographic examination, a malignant neoplasm was found in the left maxillary sinus with bony invasion. The definite diagnosis of proximal-type ES was based on the pathological and immunohistochemical characteristics. A subtotal maxillectomy with wide margins was performed on this patient. The patient survived uneventfully for three years. This is the first report of a proximal-type ES found in the maxillary sinus.

Epithelioid sarcoma of paratesticular region: A case report of an unusual case.

Primary tumors of the paratesticular region are rare, with sarcomas constituting a major proportion, particularly in the old age. The paratesticular region consists of mesothelial, various epithelial, and mesenchymal cells and may therefore give rise to a variety of tumors. Epithelioid sarcoma usually occurs at the distal extremities of young adults. The proximal-type variant is characterized by a more aggressive course and resistance to treatment. We herein report a case of 32 years male with scrotal swelling diagnosed as proximal-type epithelioid sarcoma of paratesticular region after histopathological examination and immunohistochemistry. To the best of our knowledge, this is only the second case of proximal epithelioid sarcoma of paratesticular region in the English literature. As these tumors are rare, it has been difficult to establish their optimal treatment. Also, these can be easily misdiagnosed as other epithelioid lesions.

Primary pleural epithelioid sarcoma of the proximal type: a diagnostic and therapeutic challenge.

Epithelioid sarcoma (ES) is an uncommon soft tissue neoplasm first described in 1970. It is a unique soft tissue neoplasm of adolescents and younger adults which usually presents as a subcutaneous and deep dermal mass in the distal portions of the extremities. The proximal-type variant of this rare soft tissue neoplasm was only recently reported. The proximal form typically arise in proximal extremities and in the deep parts of pelvis, perineum and genital tract. The proximal type variant has distinct histological characteristics and aggressive clinical course as compared to the distal ES. Inactivation of INI1 has been reported in both distal and proximal variants and can help to make the diagnosis. Furthermore, the proximal variant has a possible association with malignant rhabdoid neoplasm. We describe here a case of primary pleural ES of the proximal type and highlight its diagnostic and therapeutic challenges.

Proximal-Type Epithelioid Sarcoma in Skull Base: a Pathological Diagnosis Challenge with Other Intracranial Tumors.

Proximal-type ES (PES) is a rare and aggressive sarcoma originated from soft tissues with uncertain differentiation. It mainly affects middle-aged patients and often locates in proximal extremity and deep-seated tissues. Only one case of PES located in the skull base has been reported to date. Herein, we report two cases of PES occurred in the middle cranial fossa in two middle-aged Chinese women. Microscopically, the tumors were consisted of epithelial-like cells with or without rhabdoid cells. And frequent mitotic activity and coagulation necrosis were present. Immunohistochemically, tumor cells in the two cases were positive for vimentin, AE1/AE3, epithelial membrane antigen (EMA), CD34, and synaptophysin. A few number of tumor cells expressed CD56. They were completely negative for integrase interactor-1 (INI1). Besides, TP53 positive cells were observed (>50%) in the two cases. The MIB-1 proliferation index was high up to 50-70%. Fluorescence in situ hybridization showed the monoallelic deletions of INI1. Intracranial PES is needed to identify with other mimic tumors, especially rhabdoid meningioma, epithelioid MPNST and adult AT/RT. The prognosis of the two patients was very poor. They died respectively less than a month and half a month after surgery. Tumor grew rapidly and was easy to infiltrate into the surrounding tissues. It may suggest that the prognosis of PES occurred at the base of skull was worse than in other sites.

Sarcoma in neurofibromatosis 2: case report and review of the literature.

Neurofibromatosis type 2 (NF2) is associated with the development of several types of benign nervous system tumours, while malignancies are rare. We report a 22-year-old man who presented with retroperitoneal and spinal high-grade sarcomas with epithelial features. Samples showed a mixed epithelioid and spindled cell content with little associated matrix and inconclusive immunochemistry. Genetic analysis of a schwannoma and matched blood samples demonstrated a constitutional de novo substitution at the splice donor site of intron 8 of the NF2 gene and aa acquired large deletion of the entire NF2 gene as a second hit, with some loss of SMARCB1. The sarcoma also showed evidence of loss of SMARCB1 and NF2 with loss of INI1 staining. Unfortunately the mass was unresectable and the patient died 6 months after diagnosis. This malignancy was most consistent with SMARCB1-deficient epithelioid malignant peripheral nerve sheath tumour, although a significant differential was proximal-type epithelial sarcoma. Each differential has previously been reported only once with NF2. This demonstrates an extremely rare potential complication of the condition.

Epithelioid sarcoma in the chest wall: a case report and literature review.

BACKGROUND: Epithelioid sarcoma (ES) is a rare variant of soft tissue sarcoma. The proximal type of ES occurs in various locations. We present a resected case with proximal-type ES that occurred in the chest wall and discuss the relevant literature. CASE PRESENTATION: A 47-year-old woman was referred for a 6-month history of a right anterior chest mass with tenderness. Chest computed tomography showed an invasive chest wall mass with calcification surrounding the third rib. Aspiration biopsy cytology suggested malignancy. We performed wide resection, including the middle part of the pectoralis major muscle, the pectoralis minor muscle, the third and fourth ribs, and reconstruction of the chest wall, using a 2-mm polytetrafluoroethylene patch. Severe deformation of the chest wall was avoided. Postoperative physical therapy of the shoulder was effective for the continuous pain and weakness of the arm. She has remained alive for 1 year and 10 months without recurrence. Our literature review showed five previously reported cases of ES in the chest wall, and all of these were surgically resected. Two of these patients suffered from frequent local recurrence and died of disease. CONCLUSIONS: ES in the chest wall is rare. Previous reports have indicated that surgical resection with tumor-free margins is essential for treatment. We performed complete resection of the tumor in our case, and a polytetrafluoroethylene patch was effective for reconstructing the deficit in the chest wall.

Proximal-Type Epithelioid Sarcoma: Report of an Unusual Case in the Uterine Cervix.

Epithelioid sarcoma is a rare malignant mesenchymal neoplasm (less than 1% of all sarcomas) with epithelioid morphology. Among the 2 subtypes, proximal represents only one-third of cases and commonly involves deep tissues of pelvic region, including the perineum, genital area, and groin, and occurs more frequently in older patients who present a more aggressive course. In the female genital tract, proximal-type epithelioid sarcoma (PES) mainly affects the vulva and is extremely uncommon in the uterus. To our knowledge, only a few cases of PES involving the cervix and uterine body have been previously reported in the literature. We report a 23-year-old woman who presented with abnormal vaginal bleeding. She was found to have a cervical mass, which was resected and diagnosed as a hemangioendothelioma. However, 2 months later, the mass recurred and the histopathological analysis at our institution demonstrated a PES confined to the uterine cervix. It is important to include this neoplasm in the differential diagnosis of epithelioid tumors that can involve the female genital tract because it has a significant impact on prognosis and treatment.

Proximal-type epithelioid sarcoma: a new case report and literature review.

Proximal-type epithelioid sarcoma is a rare soft tissue neoplasm which arises from the more proximal part of body and occurs more often in young people; the definite diagnosis depends mainly on the pathological examination; early detection and complete excision remain the foundation of treatment. Due to its aggressive behavior, high capacity of recurrence and the great ability to metastasize, a careful clinical long-term monitoring is required. We report a new case of a 20 years old girl, presented with proximal-type epithelioid sarcoma in her right scapular region, confirmed by pathological examination and removed surgically without recurrence or metastasis at eighteen months of follow-up.