DOCSLIB.ORG

Synovial Sarcoma of the Upper Digestive Tract: a Report of Two Cases with Demonstration of the X;18 Translocation by Fluorescence in Situ Hybridization Steven D

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Synovial Sarcoma of the Upper Digestive Tract: a Report of Two Cases with Demonstration of the X;18 Translocation by Fluorescence in Situ Hybridization Steven D Synovial Sarcoma of the Upper Digestive Tract: A Report of Two Cases with Demonstration of the X;18 Translocation by Fluorescence In Situ Hybridization Steven D. Billings, M.D., Lorraine F. Meisner, Ph.D., Oscar W. Cummings, M.D., Eduardo Tejada, M.D. Department of Pathology and Laboratory Medicine, Indiana University School of Medicine (SDB, OWC), Indianapolis, Indiana; University of Wisconsin, Department of Pathology and Laboratory Medicine and the State Laboratory of Hygiene (LFM), Madison, Wisconsin; and Department of Pathology, Indiana University School of Medicine and the Laboratory Service, Richard L. Roudebush Veterans Affairs Medical Center (ET), Indianapolis, Indiana differential diagnoses for synovial sarcoma in this Two cases of synovial sarcoma that arose in the site. Synovial sarcoma of the digestive tract may be upper digestive tract are reported. One case was a underdiagnosed, and its recognition may have im- polypoid mass that arose at the gastroesophageal portant clinical implications. Fluorescence in situ junction; the other was a large intramural mass that hybridization is helpful in making this distinction. arose in the wall of the stomach. Both cases had a classic biphasic pattern. In the stomach tumor, the KEY WORDS: Chromosomal translocation, Esopha- biphasic morphology was focal and there was an geal neoplasms, Fluorescence in situ hybridization, abrupt transition to poorly differentiated synovial Immunohistochemistry, Stomach neoplasms, Sy- sarcoma. The tumors had immunohistochemical novial sarcoma. features that were consistent with synovial sar- Mod Pathol 2000;13(1):68–76 coma. Ultrastructural evaluation of the gastro- esophageal tumor supported the diagnosis. The di- Synovial sarcomas are malignant mesenchymal tu- agnostic X;18 translocation was demonstrated by fluorescence in situ hybridization on sections from mors of uncertain histogenesis. They may be bipha- paraffin-embedded tissue in 86% and 50% of inter- sic, monophasic, or poorly differentiated. They usu- phase nuclei from the gastroesophageal and gastric ally arise in the extremities intimately related to tumor, respectively. The translocation was present tendons and bursal structures of large joints but in equal frequency in the epithelial and spindle cells rarely in the synovium. Occasionally, they arise in in the biphasic areas and the poorly differentiated the head and neck, most commonly as retropha- areas of the gastric tumor, indicating that the devel- ryngeal or parapharyngeal masses (1). opment of the more aggressive subclone was prob- We describe two cases of synovial sarcoma that ably due to genetic mutations not encompassing the arose in the upper digestive tract. One case origi- SYT-SSX gene fusion product. We are aware of only nated at the gastroesophageal junction, and the five reported cases of synovial sarcoma arising in other arose in the stomach. We are aware of five the digestive tract, all in the proximal esophagus. previously reported cases of primary synovial sar- These cases are the first reported arising in the gas- coma of the cervical esophagus (2–6), but, to our troesophageal junction and stomach and the only knowledge, synovial sarcoma involving gastro- cases of synovial sarcoma of the digestive tract in esophageal junction or stomach has not been pre- which the diagnostic translocation was demon- viously reported. Both tumors displayed histologic strated. Sarcomatoid carcinoma (carcinosarcoma) features of synovial sarcoma. Immunohistochemi- and gastrointestinal stromal tumor are the main cal staining profiles supported the diagnosis. Ultra- structural features of the gastroesophageal junction tumor were consistent with synovial sarcoma. Copyright © 2000 by The United States and Canadian Academy of Pathology, Inc. However, because of the unusual locations, cytoge- VOL. 13, NO. 1, P. 68, 2000 Printed in the U.S.A. netic studies were performed to confirm the diag- Date of acceptance: August 3, 1999. Address reprint requests to: Steven D. Billings, M.D., Department of noses. The characteristic X;18 translocation was Pathology and Laboratory Medicine, Indiana University Medical Center, demonstrated by using fluorescence in situ hybrid- University Hospital 3465, 550 North University Boulevard, Indianapolis, IN 46202-5280; fax: 317-274-5346. ization (FISH) studies on paraffin-embedded tissue. 68 MATERIALS AND METHODS turation of specimen DNA in 70% formamide at 70° C, separate denaturation of probe DNA in a micro- Formalin-fixed, paraffin-embedded tissue was wave oven for 40 seconds, and hybridization of sectioned at 4 ␮m and stained with hematoxylin probe and tumor DNA overnight in a 37° C humid- and eosin, and periodic-acid-Schiff with and with- ified chamber according to the manufacturer’s in- out diastase predigestion according to standard structions. Slides from the gastroesophageal syno- methods. vial sarcoma and an adenocarcinoma of the lung For immunohistochemical examination, sections were processed together, and 100 cells from each from both tumors were stained with monoclonal were scored blindly. Slides from the gastric tumor antibodies directed against epithelial membrane were processed in the same fashion with an adeno- antigen (EMA; Ventana, Tucson, AZ), vimentin carcinoma of the stomach as a control. If the X;18 (Ventana), CD56 (Novocastra, Newcastle upon translocation is present, one would expect a high Tyne, UK), CD57 (Becton-Dickinson, San Jose, CA), frequency of spatial association between the X and and CD99 (O13; Signet, Dedham, MA). Monoclonal 18 signals that would otherwise be randomly dis- antibodies directed against cytokeratin AE1/3 tributed within the nucleus. Because we are un- (DAKO, Carpinteria, CA) and wide-spectrum antik- aware of any report of an X;18 translocation in lung eratin polyclonal antibodies (DAKO) were used on or gastric cancer, this tissue was used to control for the gastroesophageal tumor. A cocktail of cytoker- the frequency of X and 18 signals that might be atin AE1/3 (DAKO) and CAM5.2 (DAKO) was used on the gastric tumor. Antibody dilutions were indi- closely associated by chance. A close association vidually optimized (Table 1) for use with the Ven- was defined as the distance between a red and tana automatic slide stainer (Ventana). Microwave green signal less than the width of three centromere pretreatment was used for antibodies directed signals. Random associations were defined as sig- against EMA, vimentin, CD56, CD57, CD99, and the nals more than or equal to three centromere AE1/3 and CAM 5.2 cocktail. Appropriate tissue widths. Using this methodology, we have previously served as positive controls. Negative controls were found that the frequency of close associations in carried out with the Ventana Medical Systems neg- synovial sarcoma generally exceeded 75% com- ative control reagent, mouse monoclonal antibody pared with 20% or less of tumor nuclei lacking an Clone MOPC-21Ј, which is not directed against a X;18 translocation (7). known epitope present in human tissue. For ultrastructural evaluation, tissue was fixed in 3% glutaraldehyde, postfixed in osmium tetroxide, CASE REPORTS and stained with uranyl acetate and lead citrate. The specimen was thin sectioned and examined Case 1 under a transmission electron microscope. A 47-year-old Hispanic man had a history of per- Cytogenetic evaluation was performed using sistent peptic ulcer disease and pyloric stenosis as- FISH with dual color DNA probes, a green probe for sociated with gastric outlet obstruction. He had the X centromere and a red probe for a region in the undergone repeated esophagogastroduodenosco- middle of the 18 long-arm (18q21). Hybridization pies with pyloric dilatations and standard medical with probes DXZ1 (Oncor, Gaithersburg, MD) la- therapy without significant improvement. As a re- beled with fluoroisothiocyanate for the X centro- sult of the refractory nature of his peptic ulcer dis- mere and digoxigenin-labeled 18qD18541 detected ease and gastric outlet obstruction, he underwent with rhodamine (Oncor) were performed as previ- vagotomy, antrectomy, and a Billroth II procedure. ously described (7). Briefly, this involved deparaf- During surgery, a pedunculated, polypoid mass finization, digestion with pronase for 30 min, dena- was found arising at the gastroesophageal junction. The mass was excised and submitted as a separate specimen. Histologic examination of the polypoid TABLE 1. Summary of Antibody Dilutions and Results mass revealed a biphasic tumor consistent with Antibody Dilution Case 1 Case 2 synovial sarcoma. The tumor was focally present at Vimentin 1 : 100 EϪ /Sϩ EϪ /Sϩ the surgical margin. The patient underwent a sub- CD56 1 :20 EϪ /Sϩ EϪ /Sϩ sequent completion gastrectomy with partial Ϫ Ϫ ϩ ϩ CD57 1 : 10 E /S E /S (focal) esophagectomy. Residual synovial sarcoma was not CD99 1 : 10 EϪ /SϪ EϪ /SϪ EMA 1 : 100 Eϩ /SϪ Eϩ /SϪ identified. AE1 /3 1 : 200 Eϩ /S focally ϩ not performed No adjuvant therapy was given. Follow-up eval- ϩ ϩ Polyclonal 1 : 9600 E /S focally not performed uation including roentgenograms, computerized Cytokeratin AE1 /3 ϩ CAM5.2 1 : 40 (AE1 /3) not performed Eϩ /S focally ϩ tomographic (CT) scans, and frequent esophagoje- cocktail 1 : 2 (CAM5.2) junostomy endoscopic procedures revealed no ev- EMA, epithelial membrane antigen; E, epithelial cells; S, spindle cells. idence of other primary site, metastasis, or recur- Digestive Tract Synovial Sarcoma (S.D. Billings et al.)69 rence. The patient has remained disease-free for 21 months. Case 2 A 55-year-old
Load more

Recommended publications
  • Mixed Hepatoblastoma in the Adult: Case Report and Review of the Literature
    J Clin Pathol: first published as 10.1136/jcp.33.11.1058 on 1 November 1980. Downloaded from J Clin Pathol 1980;33:1058-1063 Mixed hepatoblastoma in the adult: case report and review of the literature RP HONAN AND MT HAQQANI From the Department of Pathology, Walton Hospital, Rice Lane, Liverpool L9 JAE, UK SUMMARY A case of mixed hepatoblastoma in a woman is described. A survey of the English literature reveals 13 cases acceptable as mixed hepatoblastoma; these have been described and published under a variety of names. Difficulties in nomenclature and the histology of these cases are discussed. Diagnosis depends on the identification of both malignant mesenchymal and malignant epithelial elements. The former include myxoid connective tissue resembling primitive mesenchyme and areas resembling adult fibrosarcoma. Mature fibrous tissue with calcification and bone for- mation may be seen. Epithelial areas show tissue resembling fetal liver, poorly differentiated epithelial cells, and/or areas of adenocarcinoma. The current view on histogenesis is also given. Most hepatoblastomas occur in children under the mixedtumour,6carcino-osteochondromyxosarcoma,5 copyright. age of 2 years.' Hepatoblastoma in adults is ex- and rhabdomyosarcohepatoma.7 tremely rare, and the prognosis is much worse than in the mixed hepatoblastoma of childhood. Case report The literature of mixed hepatoblastoma in adults has until recently been confused, and the true inci- CLINICAL PRESENTATION dence of the tumour obscured, owing to the various A Chinese woman aged 27 had been resident in names used by different authors to describe their England for eight years. She gave a history of cases. The commonest pseudonym is 'mixed malig- 18 months' intermittent right-sided chest pain http://jcp.bmj.com/ nant tumour',2-4 an ambivalent term which merely and upper abdominal discomfort.
    [Show full text]
  • Fascin‑1 Is Associated with Recurrence in Solitary Fibrous Tumor/Hemangiopericytoma
    MOLECULAR AND CLINICAL ONCOLOGY 15: 199, 2021 Fascin‑1 is associated with recurrence in solitary fibrous tumor/hemangiopericytoma YUMIKO YAMAMOTO1, YOSHIHIRO HAYASHI2, HIDEYUKI SAKAKI3 and ICHIRO MURAKAMI1,4 1Department of Diagnostic Pathology, Kochi University Hospital, Kochi University; 2Equipment of Support Planning Office, Kochi University, Nankoku, Kochi 783‑8505; 3Department of Nutritional Sciences for Well‑being Health, Kansai University of Welfare Sciences, Kashiwa, Osaka 582‑0026; 4Department of Pathology, School of Medicine, Kochi University, Nankoku, Kochi 783‑8505, Japan Received March 31, 2021; Accepted July 15, 2021 DOI: 10.3892/mco.2021.2361 Abstract. Fascin‑1, an actin‑bundling protein, is associated epithelial membrane antigen (1‑5). This lack of specificity in with poor prognosis in patients with various types of SFT/HPC occasionally caused problems in differentiating human carcinoma. However, research is limited on the role them from other tumors that are immunohistologically alike of fascin‑1 in sarcoma. Solitary fibrous tumor (SFT) and them. In 2013, three groups reported that SFT and HPC have hemangiopericytoma (HPC) are rare sarcomas derived from the a common gene fusion between NGFI‑A‑binding protein 2 mesenchyme. Although the prognosis of SFT/HPC is generally (NAB2) and signal transducer and activator of transcription 6 favorable, fatalities are possible with repeated recurrence (STAT6) (1,6,7). Thereafter, STAT6, which has dual functions and distant metastasis. The current study included a total of as a signal transducer and as transcription activator in SFT 20 Japanese patients, who were diagnosed with SFT/HPC and and HPC, was recognized as the highly sensitive and specific underwent surgery at Kochi University Hospital from January immunohistochemical marker for SFT/HPC (2‑5,8‑11).
    [Show full text]
  • Radiation-Associated Synovial Sarcoma
    Radiation-Associated Synovial Sarcoma: Clinicopathologic and Molecular Analysis of Two Cases Jean-François Egger, M.D., Jean-Michel Coindre, M.D., Jean Benhattar, Ph.D., Philippe Coucke, M.D., Louis Guillou, M.D. University Institute of Pathology (J-FE, JB, LG) and Department of Radiooncology, University Hospital (PC), Lausanne, Switzerland; Bergonié Institute and University of Bordeaux II (J-MC), Bordeaux, France region, or viscera (1, 2). SS bears the t(X;18) (SYT- Development of a soft-tissue sarcoma is an infre- SSX) reciprocal translocation that seems to be spe- quent but well-known long-term complication of cific for this tumor type and can be routinely de- radiotherapy. Malignant fibrous histiocytomas, ex- tected in paraffin-embedded tissue using the traskeletal osteosarcomas, fibrosarcomas, malig- reverse transcriptase–polymerase chain reaction nant peripheral nerve sheath tumors, and angiosar- (RT-PCR; 3–6). Radiation-associated sarcomas are comas are most frequently encountered. Radiation- an infrequent but well-known long-term complica- associated synovial sarcomas are exceptional. We tion of radiotherapy (7–16). They occur in about report the clinicopathologic, immunohistochemi- 1/1000 patients who have undergone radiation cal, and molecular features of two radiation- therapy (7–11). Radiation-associated sarcomas are associated synovial sarcomas. One tumor developed defined as sarcomas arising in a previously irradi- in a 42-year-old female 17 years after external irra- ated field after a latency period of Ն2 years (12). diation was given for breast carcinoma; the other They usually show a more aggressive clinical course occurred in a 34-year-old female who was irradiated associated with shortened patient survival as com- at the age of 7 years for a nonneoplastic condition of pared with sporadic sarcomas (9–12, 14).
    [Show full text]
  • Rates of Cell Division of Transplantable Malignant Rat Tumors*
    Rates of Cell Division of Transplantable Malignant Rat Tumors* FELIXD. BERTALANFFYANDCHOSENLAU (Department of Anatomy, Faculties of Medicine and Dentistry, Unirersity of Manitoba, Winnipeg, Manitoba, Canada) SUMMARY The mitotic rates of transplantable Walker carcinosarcoma 256 and fibrosarcoma 1F16F were investigated in rats by the colchicine method. The mitotic rates of these tumors were apparently not influenced by the time of day. In female rats the estrous cycle did not seem to have appreciable effects on the mitotic rates of fibrosarcoma. During the period of active growth of the tumors a constant increase in the number of cells occurred each day until the onset of necrosis. During the 5th-10th day after transplantation about 60 per cent of the cells divided daily in Walker carcinosarcoma. During the growth period of the fibrosarcoma—i.e., from the 15th to the 32d day after transplantation—about 40 per cent of newly formed cells were daily added to this tumor. These figures imply that the cell population of Walker tumor doubles about every 1.7 days, of the fibrosarcoma every 2.5 days. The mitotic rates of these malig nant tumors exceed those of most normal tissues and are surpassed only by those of the epithelium (crypts) in the small intestine. Tumor growth has been quantitatively esti plicable only to solid tumors. Disadvantages were mated by a variety of methods. Radioactive trac that malignant tumors rarely are exactly spheri ers, such as tritiated thymidine (e.g., 11), spectro- cal, cylindrical, or conical, as is requisite for the photometric determination (e.g., 22, 23) of DNA application of the above formulas.
    [Show full text]
  • List of Acceptable TCGA Tumor Types*
    List of Acceptable TCGA Tumor Types* Acute Myeloid Leukemia Head and Neck Squamous ** Ovarian Carcinoma** Thyroid Papillary Carcinoma** Squamous Cell Carcinoma Serous Cystadenocarcinoma Papillary, Usual Type (Papillary, NOS) Bladder Urothelial Carcinoma Squamous Cell Carcinoma, Spindle Cell Variant Serous carcinoma Papillary, Follicular Variant (99% follicular patterned) Muscle invasive urothelial carcinoma (PT2 or above) Squamous Cell Carcinoma, Basaloid Type Serous adenocarcinoma Papillary, Tall cell Variant (50% tall cell features) Papillary Serous carcinoma Papillary, Other Breast Invasive Carcinoma Hepatocellular Carcinoma Papillary Serous cystoadenocarcinoma Infiltrating Ductal Carcinoma** Hepatocellular Carcinoma, NOS Serous Papillary carcinoma Rare Tumor Studies Infiltrating Lobular Carcinoma Fibrolamellar Hepatocellular Carcinoma Serous Papillary cystoadenocarcinoma Medullary Carcinoma Hepatocholangiocarcinoma (mixed) Serous Papillary adenocarcinoma Adrenocortcal Tumors*** Mucinous Carcinoma Adrenocortical carcinoma - Usual Type Metaplastic Carcinoma Kidney Adenocarcinoma Pancreatic Adenocarcinoma Adrenocortical carcinoma - Oncocytic Type Mixed (with Ductal) Histology*** Clear Cell Renal Cell Carcinoma** Adenocarcinoma, ductal type Adrenocortical carcinoma - Myxoid Type Other Papillary Renal Cell Carcinoma Colloid (mucinous non-cystic) Carcinoma Hepatoid Carcinoma Chromophobe Kidney*** Cervical Cancer Lower Grade Glioma** Medullary Carcinoma Cervical Squamous Cell Carcinoma Astrocytoma, Grade II Signet Ring Cell Carcinoma Mesothelioma
    [Show full text]
  • A Case of Ovarian Carcinosarcoma Composed of Endometrioid Carcinoma and Endometrial Stromal Sarcoma
    Obstetrics & Gynecology International Journal Case Report Open Access A case of ovarian carcinosarcoma composed of endometrioid carcinoma and endometrial stromal sarcoma Abstract Volume 11 Issue 6 - 2020 Ovarian carcinosarcoma (OCS) is a rare malignancy accounting for only 1‒4% of all Shinnosuke Fukushima MD,1 Yukihiko ovarian cancers. A 44-year-old premenopausal woman presented at the Obstetrics and Nakayama MD,2 Katsuyuki Hanashima Gynecology Department of the University Hospital of Saga, with the chief complaint 1,2 1,2 of sudden abdominal pain. Tumor markers present in her serum were cancer antigen MD, Mariko Hashiguchi MD, Masatoshi 2 (CA) 19-9 (103U/mL), and CA 125 (114U/mL). Transvaginal ultrasound examination Yokoyama MD PhD, Shinichi Aishima MD showed a complex mass (74×71×67mm) with solid and cystic components in the left PhD1 abdominal area. Abdominopelvic computed tomography images showed a polycystic 1Departments of Pathology & Microbiology, Faculty of Medicine, mass with a long diameter of 94 mm in the left adnexal area. The patient underwent a Saga University laparotomy immediately after the appropriate evaluation of examinations, leading to total 2Departments of Obstetrics & Gynecology, Faculty of Medicine, abdominal hysterectomy, bilateral salpingo-oophorectomy and partial omentectomy. Due Saga University to the emergency surgery, intraoperative histological diagnosis for ovarian tumor was not Shinichi Aishima MD PhD, Departments of performed. The preoperative evaluation of radiological imaging revealed no evidence of Correspondence: Pathology & Microbiology, Faculty of Medicine, Saga University, lymph node swelling, therefore lymph node resection was omitted. The left ovarian tumor Nabeshima5-1-1, Saga City, Saga, Japan 849-8501, already showed a partial rupture.
    [Show full text]
  • Gastric Carcinosarcoma with Rhabdomyosarcomatous Differentiation: a Case Report and Literature Review
    JGS CASE REPORT OPEN ACCESS Gastric carcinosarcoma with rhabdomyosarcomatous differentiation: a case report and literature review Hsing-Yu Shih1, Che-Pin Lin 2, Feng-Chuan Tai3* 1Department of Surgery, Cathay General Hospital, Taipei, Taiwan. 2Division of hematology and oncology, Cathay General Hospital, Taipei, Taiwan. 3Division of General Surgery, Cathay General Hospital, Taipei, Taiwan. To Cite ABSTRACT Shih H-Y, Lin C-P, Tai F-C. Gastric carcinosarcoma with rhabdomyosarcomatous Gastric carcinosarcoma with rhabdomyosarcomatous differentiation is a rare tumor. differentiation: a case report and literature Herein, we report the case of a 34-year-old man with a history of dysphagia, upper review. J Gastric Surg 2020; 2(4). abdominal fullness, and poor appetite. Endoscopic findings showed a large friable mass that originated from the gastric cardia and lesser curvature of the high body. Publication history Consequently, radical total gastrectomy with Roux-en-Y esophagojejunostomy was Received: November 13, 2020 Accepted: November 19, 2020 performed. Histopathological analysis of the resected specimen revealed that the mass Article in press: November 22, 2020 had invaded the serosa without regional lymph node metastasis; moreover, the tumor Published online: November 24, 2020 was positive for desmin and myogenin. Finally, we conclude this report with literature review and discussion. *Correspondence to Feng-Chuan Tai, MD Key Words: Division of General Surgery Gastric tumor, gastric carcinosarcoma, rhabdomyosarcomatous. Cathay General Hospital, 280 Renai Rd. Sec.4, Taipei, Taiwan [email protected] Telephone: +886-0931099299 Fax: +886-27540222 © The Author(s) 2020. Published by ED Marketing & Communication. All rights reserved. Shih H-Y, et al./ JGS 2 (2020) 130 doi: 10.36159/jgs.v2i4.64 www.journalofgastricsurgery.com Background Carcinosarcoma is an uncommon biphasic malignant tumor composed of carcinoma and sarcoma components.
    [Show full text]
  • New Jersey State Cancer Registry List of Reportable Diseases and Conditions Effective Date March 10, 2011; Revised March 2019
    New Jersey State Cancer Registry List of reportable diseases and conditions Effective date March 10, 2011; Revised March 2019 General Rules for Reportability (a) If a diagnosis includes any of the following words, every New Jersey health care facility, physician, dentist, other health care provider or independent clinical laboratory shall report the case to the Department in accordance with the provisions of N.J.A.C. 8:57A. Cancer; Carcinoma; Adenocarcinoma; Carcinoid tumor; Leukemia; Lymphoma; Malignant; and/or Sarcoma (b) Every New Jersey health care facility, physician, dentist, other health care provider or independent clinical laboratory shall report any case having a diagnosis listed at (g) below and which contains any of the following terms in the final diagnosis to the Department in accordance with the provisions of N.J.A.C. 8:57A. Apparent(ly); Appears; Compatible/Compatible with; Consistent with; Favors; Malignant appearing; Most likely; Presumed; Probable; Suspect(ed); Suspicious (for); and/or Typical (of) (c) Basal cell carcinomas and squamous cell carcinomas of the skin are NOT reportable, except when they are diagnosed in the labia, clitoris, vulva, prepuce, penis or scrotum. (d) Carcinoma in situ of the cervix and/or cervical squamous intraepithelial neoplasia III (CIN III) are NOT reportable. (e) Insofar as soft tissue tumors can arise in almost any body site, the primary site of the soft tissue tumor shall also be examined for any questionable neoplasm. NJSCR REPORTABILITY LIST – 2019 1 (f) If any uncertainty regarding the reporting of a particular case exists, the health care facility, physician, dentist, other health care provider or independent clinical laboratory shall contact the Department for guidance at (609) 633‐0500 or view information on the following website http://www.nj.gov/health/ces/njscr.shtml.
    [Show full text]
  • MR Imaging of Carcinosarcoma of the Liver Using Gd-EOB-DTPA
    Magn Reson Med Sci, Vol. 13, No. 2, pp. 117–121, 2014 doi:10.2463/mrms.2013-0011 ©2014 Japanese Society for Magnetic Resonance in Medicine CASE REPORT MR Imaging of Carcinosarcoma of the Liver using Gd-EOB-DTPA 1 2 1 1 Tsuyoshi YASUTAKE *, Shigeru KIRYU , Hiroyuki AKAI , Takeyuki WATADANI , 1 1 1 3 Masaaki AKAHANE , Nobuo TOMIZAWA , Wataru GONOI , Masako IKEMURA , 4 4 1 Masamichi TAKAHASHI , Yujiro MATSUOKA , and Kuni OHTOMO 1Department of Radiology, Graduate School of Medicine, University of Tokyo 7–3–1 Hongou, Bunkyo-ku, Tokyo 113–8655, Japan 2Department of Radiology, Institute of Medical Science, University of Tokyo 3Department of Pathology, Graduate School of Medicine, University of Tokyo 4Department of Radiology, Tokyo Metropolitan Bokutoh Hospital (Received February 13, 2013; Accepted October 30, 2013; published online April 28, 2014) We present a case of a 69-year-old man with primary hepatic carcinosarcoma who under- went computed tomography that revealed a hypervascular hepatic tumor with local dense calcification. Gadolinium-ethoxybenzyl-diethylenetriamine pentaacetic acid (Gd-EOB- DTPA)-enhanced magnetic resonance imaging revealed hyperintense lesions in the hepa- tobiliary phase that indicated hepatocellular carcinoma with bile production. The patient underwent right lobectomy, and the presence of a sarcoma component within the tumor on histopathology confirmed liver carcinosarcoma that included hepatocellular carcinoma. In cases with atypical images that resemble this case, the hyperintensity of a lesion in the hepatobiliary
    [Show full text]
  • Genetic Investigation of Uterine Carcinosarcoma: Case Report and Cohort Analysis Timothy N
    Special Report Genetic Investigation of Uterine Carcinosarcoma: Case Report and Cohort Analysis Timothy N. Hembree, DO, PhD, Jamie K. Teer, PhD, Ardeshir Hakam, MD, and Alberto A. Chiappori, MD Background: Uterine carcinosarcoma, a rare gynecological malignancy, often presents at the advanced stage with a poor prognosis because current therapies have not improved rates of survival. Genetic characterization of this tumor may lead to novel, specifically targeted drug targets to provide better treatment options for patients with this malignancy. Methods: We present a case of a woman aged 61 years with uterine carcinosarcoma and retrospectively ana- lyzed 100 study patients with uterine carcinosarcoma. From this group, 9 study patients underwent targeted sequencing of 1,321 genes. Results: All 9 study patients had at least 1 mutation in JAK2, KRAS, PIK3CA, CTNNB1, PTEN, FBXW7, TP53, and ERBB2; of these, TP53 was the most frequently mutated gene (6/9). In addition, ARID1A and KMT2C, which have been described and identified as part of a set of chromatin-remodeling genes, were also found in our analyses. From our 100-person cohort clinical analyses, study patients with stage 1 cancer had a median survival rate of 33 months (95% confidence interval, 19–109) compared with a median survival rate of 6 months (95% confidence interval, 3–12) in those with stage 4 disease. Conclusions: Disease stage alone predicted the rate of clinical survival. Up to 50% in the study group were identified at having early stage disease (stage 1/2), indicating improved rates of overall detection compared with previously reported data. Our mutational analysis findings add to the number of tumors in which these mutations have been found and suggest that chromatin-remodeling dysregulation may play a role in the tu- morigenesis of carcinosarcoma.
    [Show full text]
  • A Sarcomatoid Malignant Mesothelioma Diagnostic Challenge Even on Immunohistochemistry
    Panacea Journal of Medical Sciences 2020;10(2):167–170 Content available at: https://www.ipinnovative.com/open-access-journals Panacea Journal of Medical Sciences Journal homepage: www.ipinnovative.com Case Report A sarcomatoid malignant mesothelioma diagnostic challenge even on immunohistochemistry Vaishali Atmaram Walke1, Sonali Shravan Datar1,*, Mahananda Tukaram Bele1, Balwant Dasharath Kowe1 1Dept. of Pathology, Indira Gandhi Government Medical College, Nagpur, Maharashtra, India ARTICLEINFO ABSTRACT Article history: Sarcomatoid mesothelioma a rare variant accounts for 10-15% of malignant mesothelioma having a fatal Received 26-04-2020 outcome. Therefore it becomes essential to differentiate sarcomatoid mesothelioma from other variants. Accepted 03-06-2020 Morphologically it mimics malignant spindle cell tumor. Immunohistochemistry therefore becomes Available online 26-08-2020 mandatory to offer definitive diagnosis. However IHC markers also show overlapping expression, making its interpretation difficult. In such challenging situations, clinicoradiological features, morphology together with panel of IHC markers help to solve the riddle/dilemma. Here we report a case of sarcomatoid Keywords: mesothelioma with its varied IHC profile posing diagnostic challenge. Sarcomatoid mesothelioma Immunohistochemistry © 2020 Published by Innovative Publication. This is an open access article under the CC BY-NC license Spindle cell tumors (https://creativecommons.org/licenses/by-nc/4.0/) 1. Introduction for presence of pallor. On auscultation, she had reduced breath sounds on left hemithorax along with dullness on Malignant Mesothelioma (MM) is the most common percussion. Her chest Xray revealed left sided moderate primary malignant tumour of pleura. It represents pleural effusion with contralateral mediastinal shift. The less than 1% of all cancers. Histologically malignant CT scan showed left sided extensive nodular pleural pleural mesotheliomas are classified as epithelial thickening with collapse of underlying lung parenchyma.
    [Show full text]
  • Carcinosarcoma of the Larynx- a Rare Site Entity Oncology Section
    DOI: 10.7860/JCDR/2016/17174.7758 Case Report Carcinosarcoma of the Larynx- A Rare Site Entity Oncology Section BYNA SYAM SUNDARA RAO1, BHAVANA GRANDHI2, VISSA SHANTHI3, NANDAM MOHAN RAO4, B. KRISHNA MURTHY5 ABSTRACT Carcinosarcoma is a very rare lesion reported in many organs including larynx. The larynx appears to be highly unusual site, only a few cases have been described in the literature. Carcinosarcoma is a mixed tumour. It is composed of both malignant epithelial and mesenchymal elements. We report a case of Carcinosarcoma of the larynx in 45-year-old male. He presented with complaints of hoarseness of voice, difficulty in breathing and swallowing. The growth was pedenculated arising from left vocal cord. Diagnosis was confirmed by histopathology. Keywords: Carcinoma, Mesenchyme, Sarcoma CASE REPORT back ground [Table/Fig-2]. Sarcomatous cells were arranged at A 45-year-old male patient came to ENT OP department with places in hering bone pattern [Table/Fig-3]. Postoperative state complaints of hoarseness of voice, difficulty in swallowing and was uneventful and three months follow up of the case showed breathing for 6 months. History of smoking and alcoholism were good recovery. present since 10 years duration. He had no significant medical complaints. Basic Haematological investigations, liver function DISCUSSION tests and renal function tests were normal. Indirect laryngoscopic Carcinosarcoma is a malignant tumour composed of both examination revealed polypoid pedunculated mass arising from malignant epithelial and mesenchymal components. Less than 1% left vocal cord and excised specimen was sent to pathology of all malignant tumours of larynx and hypopharynx are represented department in 10% formalin for histopathologic examination.
    [Show full text]