Epitheloid Sarcoma Research Articles

EPID-33. EPITHELOID SARCOMA IN A LONG-TERM SURVIVOR OF AN ATYPICAL TERATOID / RHABDOID TUMOR WITH RHABDOID TUMOR PREDISPOSITION SYNDROME

Abstract INTRODUCTION Rhabdoid tumor predisposition syndrome (RTPS) predisposes to a high risk of developing Rhabdoid tumors in Brain, kidney; and is defined by a germline mutation in SMARCB1 (rarely SMARCA4) gene. The most frequent pediatric tumor associated with RTPS is atypical teratoid/rhabdoid tumor (ATRT), commonly diagnosed in children < 3 years of age. Epitheloid Sarcoma (ES) is a rare soft tissue sarcoma, arising in any age group and histologically defined by loss of SMARCB1 in tumor cells. METHODS We describe a long- term survivor of ATRT with RTPS presenting 12 years later with ES. Data was collected from medical chart review. RESULTS Our patient was diagnosed with ATRT and RTPS (SMARCB1) at 6 months of age and treated with chemotherapy as per ACNS0333 at diagnosis; by chemotherapy / focal radiation at first relapse and with alisertib on second relapse. At 10yrs of age she presented with multiple firm, skin-colored dermal nodules in both her hands (palms and fingers). She was diagnosed to have palmar warts and treated with topical cantharidin with a waxing and waning course. Subsequently the hand lesions were diagnosed as granuloma annulare and followed up with no therapy. At 12 years of age, lesion in tip of the right thumb increased in size and a punch biopsy was done which revealed ES with IHC showing loss of SMARCB1 in tumor cells. Staging CT of the chest showed multiple bilateral (b/l) small (<1cm) axillary lymph nodes with a negative PET scan. Bilateral axillary lymph node biopsies were negative for ES. She underwent excision of all the hand lesions with negative margins with no further therapy. CONCLUSION Based on our case and single case report in literature, we hypothesize that ES is likely a primary malignancy of RTPS and should be included in the spectrum of malignancies of RTPS.

Young Woman With Vulvar Mass.

A 20-year-old woman presented to the emergency department with a 2-month history of a left groin mass, which slowly grew after mild blunt trauma. The mass became painful 2 days ago, but she denied vaginal discharge, pain, abnormal bleeding, or dysuria. Physical examination revealed an asymmetric, indurated, tender mass over the left lateral aspect of the mons pubis extending through the labia and inguinal area. (Figure 1) Bedside ultrasound evaluation showed a complex lesion without obvious fluid collection or Doppler flow (Figure 2), and computed tomography confirmed (Figure 3) a 9-centimeter soft tissue density.Figure 2Bedside ultrasound showed heterogenous mass without fluid collection or Doppler flow.View Large Image Figure ViewerDownload Hi-res image Download (PPT)Figure 3Computed tomography of pelvis with contrast demonstrated a peripherally enhancing 9 cm soft tissue density in the left inguinal region (arrow).View Large Image Figure ViewerDownload Hi-res image Download (PPT) Epithelioid sarcoma. After surveillance imaging results of the abdomen and thorax were negative, surgeons performed a core biopsy to confirm the diagnosis. The patient underwent neoadjuvant chemotherapy with prophylactic salpingectomy and planned resection. Soft tissue sarcomas represent an eclectic group of rare neoplasms, and epithelioid sarcoma is an aggressive subtype more commonly affecting young men, typically as a firm, painless distal extremity lesion that is notably associated with slow growth after trauma.1Popovich J.R. Kashyap S. Cassaro S. Sarcoma StatPearls [Internet]. StatPearls Publishing, Treasure Island (FL)2022 Janhttps://www.ncbi.nlm.nih.gov/books/NBK519533/Date accessed: March 7, 2022Google Scholar, 2Sobanko J.F. Meijer L. Nigra T.P. Epithelioid sarcoma: a review and update.J Clin Aesthet Dermatol. 2009 May; 2: 49-54PubMed Google Scholar, 3Enzinger F.M. Epitheloid sarcoma. A sarcoma simulating a granuloma or a carcinoma.Cancer. 1970; 26: 1029-1041Crossref PubMed Google Scholar, 4Andrisani A. Serena A. Ambrosini G. Capobianco G. Chiarelli S. Proximal-type epithelioid sarcoma of the mons pubis: report of a case.Eur J Gynaecol Oncol. 2011; 32: 339-342PubMed Google Scholar A lesion of the mons pubis is rare. Prognosis is generally poor as epithelioid sarcoma has a propensity for local recurrence and distant metastases.2Sobanko J.F. Meijer L. Nigra T.P. Epithelioid sarcoma: a review and update.J Clin Aesthet Dermatol. 2009 May; 2: 49-54PubMed Google Scholar,5Patrizi L. Corrado G. Saltari M. et al.Vulvar “proximal-type” epithelioid sarcoma: report of a case and review of the literature.Diagn Pathol. 2013; 8: 122Crossref PubMed Google Scholar Benign etiologies such as cysts, abscesses, or lipomas are clinically similar.

Clinical considerations of bleomycin based electrochemotherapy with variable electrode geometry electrodes for inoperable, deep-seated soft tissue sarcomas

The aim of the current prospective pilot study exclusively for deep-seated soft tissue sarcomas (STS) was to evaluate efficacy and safety of bleomycin-based ECT using VEG (variable electrode geometry) electrodes. During a 2-year period, seven surgically inoperable STSs were treated at the University of Szeged, Department of Surgery in Hungary. Electrode placement was determined by software planning using preoperative imaging (CT/MRI) and intraoperative ultrasound. Intravenous bleomycin (15.000 IU/m2) was administered 8 min before first pulse generation which lasted up to 40 min. Tumour response was evaluated through CT/MRI 2 months after treatment as per RECIST v.1.1. Five male- and 2 female patients were treated with fibromyxoid sarcoma (n = 2), epitheloid sarcoma (n = 3), liposarcoma (n = 1) and myofibroblastic sarcoma (n = 1) with median age of 54 years (49–88). Median tumour diameter, tumour volume and tumour depth was 5.9 cm (3.7–22.5), 131.13 cm3 (35.6–2456.22) and 6.18 cm (3.74–18.18), respectively. Median operative time was 75 min (35–180), median hospital stay 2 days (2–20). Two month follow-up confirmed partial response in 5 patients, while stable disease in 1 patient, and progressive disease in 1 case as per RECIST v.1.1. Grade 2 ulceration was experienced in four cases, and a transient left musculus quadriceps femoris plegia occured in one patient. Local control of deep-seated STSs with BLM-based VEG ECT holds a promising perspective and our results may serve as a practical guide for further investigation and treatment planning.

Abstract 3939: Preclinical development of embryonic ectoderm development (EED) inhibitor APG-5918/EEDi-5273 for cancer therapy

Abstract Three core components constitute the polycomb repressive complex 2 (PRC2), a multiprotein complex that catalyzes methylation of histone H3 at lysine 27 (H3K27): (1) enhancer of zeste homolog 2 (EZH2), (2) EED, and (3) suppressor of zeste 12 protein homolog (SUZ12). Dysregulated function of PRC2 is implicated in the development of various cancer types. With regulatory approval of EZH2 inhibitor tazemetostat, a potentially effective successful cancer therapeutic strategy is now available for patients with epitheloid sarcoma and relapsed or refractory follicular lymphoma. However, EZH2 inhibitor activity might be reduced because of acquired resistance through secondary mutations in EZH2 or its inability to inhibit paralogs of EZH2 (including EZH1). Because binding of EED with trimethylated H3K27 (H3K27me3) is required to activate methyltransferase activity of EZH2, allosterically targeting EED is emerging as a novel approach to inhibit PRC2 (Qi et al, Nat Chem Biol 2017). APG-5918/EEDi-5273 is a well-documented, investigational, novel, bioactive, and potent EED inhibitor (Rej et al, JMC 2021). The aim of this study was to further characterize the anticancer therapeutic activity of APG-5918 in the preclinical setting. APG-5918/EEDi-5273 showed high-affinity binding to EED protein in a biochemical assay (IC50 = 1.2 nM). It also exerted potent antiproliferative activity in several EZH2 mutant (EZH2mut) diffuse large B-cell lymphoma (DLBCL) cell lines, with IC50 values in the nanomolar range and inhibitory effects that were approximately 5 times lower than those with tazemetostat. In a mouse xenograft model derived from EZH2mut KARPAS-422 DLBCL cells, single-agent APG-5918 conferred potent and dose-dependent antitumor activity, resulting in durable complete tumor regression that correlated with inhibition of H3K27me3, induction of PRC2 target genes, and drug exposure in tumors. In summary, our results provide scientific rationale for the clinical development of APG-5918/EEDi-5273 in EZH2mut lymphomas and, potentially, other hematologic malignancies and solid tumors. Citation Format: Saijie Zhu, Douglas D. Fang, Qiang Li, Dongmei Yang, Shoulai Gu, Shaomeng Wang, Dajun Yang, Yifan Zhai. Preclinical development of embryonic ectoderm development (EED) inhibitor APG-5918/EEDi-5273 for cancer therapy [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2022; 2022 Apr 8-13. Philadelphia (PA): AACR; Cancer Res 2022;82(12_Suppl):Abstract nr 3939.

A rare case of shoulder swelling: epithelioid sarcoma- case report

Epitheloid sarcoma is a rare soft tissue sarcoma classified under tumor of uncertain histogenesis. Incidence being 0.4/million/year, it is divided into proximal variant-where in the proximal parts of the body are more involved and distal variant which is commoner and less aggressive of the two predominantly involving distal parts of upper limb followed by distal lower extremities and proximal upper limb. It has a male preponderance (1.8:1), although females have better prognosis comparatively, also it has a tendency of lymphatic spread with 13% metastasis. Recurrence of 77% is reported. Definitive diagnosis is made only on tissue biopsy. Most common variant is pseudo granulomatous type. This case report is based on a case which presented with a single right anterior shoulder swelling and was found to be of epitheloid sarcoma on biopsy. A 60 years old female patient came to OPD of D. Y. Patil Medical College, Pune, with complaints of swelling over her right shoulder since 1 month, initially small and gradually increasing in size of swelling. No history of pain and loss of appetite or weight. On examination, a 4 3 cms firm to hard swelling present over anterior part of right shoulder. It was observed to be non-tender, well defined and mobile. Patient has been investigated with x-ray, FNAC, and ultrasound of the swelling. FNAC was significant other giant cell lesion of soft tissue hence taken up for excision biopsy which showed epitheloid sarcoma on histopathology with faint focal positivity for pancytokeratin and EMA and negative for LCA, CK-3 and S-100.

A case series of malignancies: mimics of Rheumatological disorders

Background: Malignancy and Autoimmunity interplay is full of complexities. We here, describe few cases of malignancies presented as mimics of autoimmune disorders. A case of acute myeloid leukaemia had leukocytoclastic vasculitis, positive ANA, positive SS-A, and few clinical features of autoimmune disease and it mimicked UCTD. Second case of signet ring cell type of adenocarcinoma of G.I tract mimicked CTD as it had ANA positivity and ILD. Third case was epitheloid sarcoma which mimicked pyomyositis while fourth case was multiple myeloma presented with leukocytoclastic vasculitis, positive ANA, malar rash and active urinary sediments and it had mimicry of SLE. Malignancies can present as autoimmune diseases or they can mimic flare of Rheumatological diseases. Cancer can present as vasculitides, CTDs, myositis or arthritides. Sometimes, it is difficult to ascertain whether autoimmune disorders have caused cancers or malignancies have caused autoimmune disturbances. ANA can be positive in upto 27% cancer patients. There is clearly increased risk of cancers amongst patients of autoimmune diseases compared to general population. Malignancies including metastasis can also present with true paraneoplastic autoimmune disorders. They usually present later in the course of the disease but sometimes surprise internists with sudden appearance in early course of the disease. High index of suspicion is required to detect malignancies in autoimmune diseases as both have invariably similar presentations. PET scan and tissue diagnosis are amongst the major investigations to treat patients with spectrum of malignancy and autoimmunity.

Epithelioid sarcoma of femoral nerve: A case report

Introduction. Epithelioid sarcoma is a slow-growing malignant soft tissue tumor and occurs approximately in 1% of all soft tissue malignant tumors. This case report describes epithelioid sarcoma in femoral nerve and as we know it is the first described case of epithelioid sarcoma at this anatomical localisation. Case report. A 44-years-old female patient presented with strong pain in her left leg. On magnetic resonance imaging (MRI), tumor was presented as a node 8 cm in the diameter at left femoral nerve between ileopsoas and iliacus muscle, without infiltration of muscle fascia and tendons. Four enlarged lymph nodes described in left iliac fosa, were suspected on secondary tumor deposits. We preformed radical surgical excision of the tumor and femoral nerve transection with local lymp hnode disection. Histopathological analysis revealed epithelioid sarcoma, and tumor stained highly positive for anti-pan cytokeratin antibody (AE1/AE3), vimentin, cancer antigen 125 (CA125), anticytokeratin antibody (MNF116), hematopoietic progenitor cell antigen (CD34) and epithelial membrane antigen (EMA) markers. After the operation patient recived radiotherapy without chemotherapy. Six months postoperatively, there was no evidence of local relapses or distant metastases. Conclusion. Initial wide surgical resection and adjuvant radiotherapy is beneficial in treatment of epitheloid sarcoma.

Metastasis of soft tissue sarcomas in lymph node: A cytomorphological study.

Soft-tissue sarcoma (STS) rarely metastasizes to lymph node compared to carcinoma. Fine-needle aspiration cytology (FNAC) carries a pivotal role in diagnosis of metastatic tumor to lymph node. This study highlights the role of FNAC in diagnosis of STS metastasis to lymph node. A retrospective study over a period by 4 years carried out. FNAC of enlarged lymph node was performed in patients with STS. Cytology smears were examined in conjunction with clinical details. Histopathology and Immunohistochemistry (IHC) were correlated in synchronous cases. Out of 326 patients, 21 with STS had enlarged lymph nodes, of which 19 cases showed involvement (5.8%). Sixteen cases were metachronous and 3 cases showed synchronous involvement. Fifteen cases had regional lymph nodes while 4 cases had distal lymph node involvement. Head and neck and lower extremities were the most common primary sites of STS. Rhabdomyosarcoma was the most common sarcoma metastasing to the lymph nodes followed by synovial sarcoma, malignant peripheral nerve sheath tumor, and clear cell sarcoma. Other rare tumors included leiomyosarcoma, epitheloid sarcoma, liposarcoma, malignant fibrous histiocytoma, and Ewing's sarcoma/peripheral neuroectodermal tumor. We had a case of dermatofibrosarcoma protuberance (DFSP) of scalp with cervical lymph node metastasis. Very unusual about this case was its rare primary site and the rarer lymph node metastasis. FNAC plays an important role in the diagnosis of lymph node metastasis in cases of STS.

Isolated Metastases in the Elbow as the First Presentation of Metastatic Colorectal Cancer – A Case Report and Overview of Literature

Introduction: Colon adenocarcinoma frequently metastasizes to the liver and lung. Distant metastasis to skeletal muscle and subcutaneous tissues arising from colorectal cancer are rarely reported in the literature. Treatment options include radiotherapy, chemotherapy and surgical excision, with no standard treatment. Case presentation: A 64 years old male presented with painful mass in the left elbow (8.5x5.5 cm). The incisional biopsy of the tumor showed poorly differentiated carcinoma, with no clear differentiation between epitheloid sarcoma or low differentiated carcinoma metastasis. PET CT showed pathological metabolic activity in the left elbow and in the right part of the abdomen. Colonoscopy was performed, showing an ulcerated obliterating adenocarcinoma of the sigmoid colon. Hemicolectomy followed. The histological comparison of the both tumors, showed the same characteristics. Molecular analysis showed biomarkers non mutated status. The radiotherapy of the elbow was applied, and he started with combination of doublet chemotherapy and EGFR inhibitor. After three cycles, complete remission was achieved, remaining present. Due to complete regression surgical resection was not necessary. Conclusion: We have reported an extremely rare case of isolated skeletal muscle metastasis as first presentation of metastatic colon adenocarcinoma. PET CT can be helpful to localize the primary site of the metastatic deposits. Immunostaining and pathohistological comparison of the primary carcinoma and the metastasis should be incorporated to reach the final diagnosis whenever possible. Since skeletal muscle metastases are considerably rare and the therapy is not standardized, treatments of these patients should be individualized and must depend on the clinical settings and biomarkers status.

Epitheloid Sarcoma of the Tongue

Epitheloid Sarcoma of the Tongue Epitheloid sarcoma is a rare tumour, with high rate of recurrence and metastasis. Typically the primary lesion is in the extremities of young adults. Intraoral primary lesion is extremely rare. We report a rare case of epitheloid sarcoma of the tongue, based on histopathological examination that was initially diagnosed as poorly differentiated squamous cell carcinoma.

Intracardiac Metastasis from Epitheloid Sarcoma: Rare Localization and Difficult Management

The involvement of the heart in metastatic cancer is a very rare clinical diagnosis with poor prognosis given to the major risk of cardiac failure. They are frequently asymptomatic or symptoms, when present, may be attributed to other causes. The most common, among the latter, are intrathoracic cancers, lymphomas, leukemias, melanoma, and rarely sarcomas. The echocardiography is the gold standard for diagnosis, but scanner and magnetic resonance imaging (MRI) can be helpful for determination of exact location and composition of lesions. Cardiac metastases occur generally in advanced stage in poly-metastatic patients. Treatment is often in a palliative strategy but should be discussed in multidisciplinary approach for each case. We report a case of cardiac metastasis occurring in a 47 years old woman, treated for epitheloid sarcoma of the buttock. The aim of this work is to show the rarity of the heart location, describing the epidemiological, clinical, radiological, and prognostic features of these metastases and finally discussing the therapeutic strategy.

Soft Tissue Sarcoma

The soft-tissue sarcomas (STS) of childhood are a relatively rare and heterogeneous group of tumors that may occur anywhere in the body and respond quite differently to therapy. STSs account for 7.4% of all cancers in children younger than 20 years [1]. These soft tissue sarcomas are divided almost equally between rhabdomyosarcomas originating from striated muscle and nonrhabdomyosarcoma soft tissue sarcomas (NRSTS). Sarcomas are malignant tumors of mesenchymal cell origin. They are named according to the normal tissue they resemble — for example, rhabdomyosarcoma (skeletal muscle), leiomyosarcoma (smooth muscle), and fibrosarcoma and malignant fibrous histiocytoma (connective tissue), neurofibrosarcoma or malignant peripheral nerve sheath tumor (neurofibrosarcomas, as seen in patients with neurofibromatosis), liposarcoma (adipose), synovial sarcoma (synovium), peripheral nerve sheath tumors (peripheral nerve), and angiosarcoma (blood and/or lymphatic vessels). Other sarcomas include rare entities such as alveolar softpart sarcoma, extraosseous Ewing’s sarcoma, peripheral neuroectodermal tumors, epitheloid sarcoma, and hemangiopericytoma.

Paediatric Dupuytren's disease

Dear Editor, This paper presents the first documented case of paediatric Dupuytren's disease in Australasia. An 8-year-old boy was referred by his general practitioner with a 6-month history of nodular mass in the right palm. There was no history of trauma. On examination, a 7-mm diameter mass was located in the right mid-palm between the palmar creases opposite the third web space. The mass was adherent to the overlying skin; however, the finger range of motion was preserved. Ultrasound reported a semi-cystic, semi-solid mass in the subcutaneous tissue. Surgical excision was performed to obtain a histological diagnosis. Intraoperatively the nodule was noted to be within the longitudinal cord of palmar fascia and had a macroscopic appearance typical of Dupuytren's disease (Fig. 1). Histology confirmed the diagnosis. The post-operative period was unremarkable and follow-up at 3 months revealed no evidence of recurrence. Intra-operative view of palmar fibromatosis. Only six cases of histologically proven Dupuytren's disease have been reported worldwide in children under 10 years of age, including two infants aged 6 and 10 months.1–3 Fetsch identified a further two cases among a total of 56 cases of paediatric fibromatosis; however, patient age was not disclosed.4 Of the six cases, there was a male-to-female ratio of five to one, with a mean age at presentation of 4.8 years. Most common locations were the palm or little finger and fixed flexion deformities were present at the proximal interphalangeal joint in 60% of cases, with the deformity ranging from 20 to 500. All cases were treated surgically, with five undergoing fasciectomy. To obtain up-to-date follow-up data we contacted clinicians of the above cases and obtained information on five patients. This revealed recurrence in only one patient, with follow-up ranging from 18 months to 5 years. Recurrent Dupuytren's disease was originally reported in a second child; however, this was histologically misdiagnosed.3 A review of the original slides revealed epitheloid sarcoma, highlighting the care required when diagnosing recurrent disease in the paediatric age group. The presence of any atypical clinical or histological features is an indication for performing epitheloid marker assays including cytokeratin 8 and 18 and epithelial membrane antigen.

Reversible Proximal Renal Tubular Dysfunction after One-Time Ifosfamide Exposure

The alkylating agent ifosfamide is an anti-neoplastic used to treat various pediatric and adult malignancies. Its potential urologic toxicities include glomerulopathy, tubulopathy and hemorrhagic cystitis. This report describes a case of proximal renal tubular dysfunction and hemorrhagic cystitis in a 67-year-old male given ifosfamide for epitheloid sarcoma. He was also receiving an oral hypoglycemic agent for type 2 diabetes mellitus and had a baseline glomerular filtration rate of 51.5 mL/min/1.73 m2. Despite mesna prophylaxis, the patient experienced dysuria and gross hematuria after a single course of ifosfamide plus adriamycin. The abrupt renal impairment and serum/urine electrolyte imbalances that ensued were consistent with Fanconi's syndrome. However, normal renal function and electrolyte status were restored within 14 days, simply through supportive measures. A score of 8 by Naranjo adverse drug reaction probability scale indicated these complications were most likely treatment-related, although they developed without known predisposing factors. The currently undefined role of diabetic nephropathy in adult ifosfamide nephrotoxicity merits future investigation.

Rapid detection of SMARCB1 sequence variation using high resolution melting

BackgroundRhabdoid tumors are rare cancers of early childhood arising in the kidney, central nervous system and other organs. The majority are caused by somatic inactivating mutations or deletions affecting the tumor suppressor locus SMARCB1 [OMIM 601607]. Germ-line SMARCB1 inactivation has been reported in association with rhabdoid tumor, epitheloid sarcoma and familial schwannomatosis, underscoring the importance of accurate mutation screening to ascertain recurrence and transmission risks. We describe a rapid and sensitive diagnostic screening method, using high resolution melting (HRM), for detecting sequence variations in SMARCB1.MethodsAmplicons, encompassing the nine coding exons of SMARCB1, flanking splice site sequences and the 5' and 3' UTR, were screened by both HRM and direct DNA sequencing to establish the reliability of HRM as a primary mutation screening tool. Reaction conditions were optimized with commercially available HRM mixes.ResultsThe false negative rate for detecting sequence variants by HRM in our sample series was zero. Nine amplicons out of a total of 140 (6.4%) showed variant melt profiles that were subsequently shown to be false positive. Overall nine distinct pathogenic SMARCB1 mutations were identified in a total of 19 possible rhabdoid tumors. Two tumors had two distinct mutations and two harbored SMARCB1 deletion. Other mutations were nonsense or frame-shifts. The detection sensitivity of the HRM screening method was influenced by both sequence context and specific nucleotide change and varied from 1: 4 to 1:1000 (variant to wild-type DNA). A novel method involving digital HRM, followed by re-sequencing, was used to confirm mutations in tumor specimens containing associated normal tissue.ConclusionsThis is the first report describing SMARCB1 mutation screening using HRM. HRM is a rapid, sensitive and inexpensive screening technology that is likely to be widely adopted in diagnostic laboratories to facilitate whole gene mutation screening.

Four kinds of hypothyroidism and the cancers of breast and lung found in cases of Japanese rheumatoid arthritis (RA), arthritis deformans, or bone fracture

Japanese patients were selected from 875 patients who had undergone an orthopedic operation. Seventy-two cases of rheumatoid arthritis (RA) and 17 cases of suspected RA were analyzed. In parallel with high levels of rheumatoid factor (RF), Sjoegren syndrome, finger and toe deformans, and knee and hip arthritis deformans were observed at high frequencies. The arthritis deformans of 51 patients displayed a mean serum iron levels of 50 ± 33 (SD) μg/dl and transferrin saturation (TS) of 18 ± 11%. The hypothyroidisms diagnosed in the 12 patients were caused by autoimmune, hypopituitary, and papillary thyroid cancer (PTC). Two of the insulinoma cases had hypothyroidism due to down-regulated transcription of genes related to insulin. Two PTC, four breast ductal carcinomas, and three lung adenocarcinomas, which were observed in patients with bone diseases, were assumed to be caused by epidermal growth factor receptor (EGFR) gene mutations. One lung cancer with gefitinib-sensitive EGFR mutations, a breast cancer that expressed human epidermal growth factor receptor 2 (HER2), and a lung-metastasized popliteal epitheloid sarcoma showed disseminated bone and/or intra-lung metastases. When an HER2-positive breast cancer metastasized to the bones, TS was elevated to 73.4–81.4% with anemic attacks and high levels (12.4–16.8 ng/ml) of pyridinoline cross-linked carboxy-terminal telopeptide type I. In the other six cancer patients with noninvasive phenotypes, the metastases became cysts. One noninvasive lung cancer was confirmed to express thyroid transcription factor-1 (TTF-1). Polyps, varix, and multiple thromboses were found to be clinical signs of pre-EGFR cancers.

Epithelioid Sarcoma Metastatic to the Lung As Pulmonary Cysts Without Other Metastatic Manifestation

A 35-year-old man presented with deep ulceration on the scalp for 3 months. Physical examinations and routine laboratory investigations were unremarkable, except for the noduloulcerative lesion in the right parieto-occipital area (Figure 1). Microscopically, a skin biopsy revealed this tumor was suggestive of epithelioid sarcoma. Immunohistochemically, the tumor cells stained for cytokeratin, epithelial membrane antigen, vimentin, and CD34 (Figure 2). The specimen stained negative with CD68. Therefore, this lesion was diagnosed as an epithelioid sarcoma. Chest radiography revealed no remarkable findings. Chest computed tomography (CT) revealed bilateral multiple thin-walled cysts measuring up to 1.5 cm in diameter (Figures 3A, B). No nodules, pleural lesions, or enlarged lymph nodes were found. Brain CT and positron emission tomography-CT were performed, and no distant metastasis or enlarged lymph nodes were found. The patient underwent video-assisted thoracoscopic surgery to diagnose whether pulmonary cystic mass represented metastatic lesions (Figure 3C). Microscopically, lung biopsy specimen had a same feature of the skin lesion. All tumor cells presented only within the pulmonary interstitium (Figure 4). Immunohistochemically, the tumor cells stained for cytokeratin, epithelial membrane antigen, vimentin, and CD34. The specimen stained negative with CD68 and thyroid transcription factor-1. Pulmonary cystic metastasis from epitheloid sarcoma without other metastatic manifestation was extremely rare condition. Two cases of cystic pulmonary metastases of epithelioid sarcomas have been described.1,2 Three possible mechanisms for the development of malignant cysts have been proposed: (i) excavation of a nodular tumor through discharge of the necrotic material inside; (ii) infiltration of malignant cells into the walls of a preexisting benign pulmonary bulla; or (iii) distension of alveoli

Ultrastructure in resolving a diagnosis of poorly differentiated clear cell sarcoma of soft parts in an adolescent male

Clear cell sarcoma of soft parts is a rare tumor in children and it requires a high index of suspicion for accurate diagnosis. Early diagnosis leads to radical surgical excision and limits the aggressive behavior of this tumor. We report a case of a 12-year-old boy with a recurrent soft-tissue tumor in the scalp, misdiagnosed on three occasions as epitheloid sarcoma owing to the poorly differentiated appearance of cells. In spite of focal S-100 expression, this tumor was not recognized as a tumor of melanocytic origin till melanosomes were demonstrated on electron microscopy (EM). Detection of melanosomes on electron microscopy helped in clinching the histology diagnosis, reiterating the definite role of EM in diagnosing these tumors. Failure to accurately diagnose this tumor resulted in institution of preoperative chemotherapy, delayed surgical excision, tumor progression and death of patient within a year and half of presentation.

A Case of Epitheloid Sarcoma on Metal Cutoff Worker

A Case of Epitheloid Sarcoma on Metal Cutoff Worker

Improved Survival for Sarcomas of the Wrist and Hand

To evaluate survival characteristics of malignant hand tumors compared with those occurring in other musculoskeletal locations over a 30-year period. Patients were identified through a computerized database maintained at the authors' institution over the past 30 years. Each patient's records were reviewed retrospectively. Diagnoses were categorized and survival data for patients with hand malignancies were compared with those of patients having similar tumors in other musculoskeletal sites by using multivariate statistical analysis. The most common malignancies were epitheloid sarcoma, synovial sarcoma, and malignant fibrous histiocytoma. Improved survival during the follow-up period was found for hand malignancies versus those occurring in other musculoskeletal sites as a whole, and this difference was statistically significant. No significant survival benefit was identified for individual tumors. Patients presenting with primary malignancies of the hand may survive longer than those with similar tumors in other musculoskeletal locations Prognostic, Level II.