DOCSLIB.ORG

Small Round Cell Tumors in Soft Tissue and Bone

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Small Round Cell Tumors in Soft Tissue and Bone 4/13/2016 Ultrastructural Pathology Society, Seattle, March, 2016 Small Round Cell Tumors ACCME/Disclosure in Soft Tissue and Bone Dr. Fisher has nothing to disclose Cyril Fisher MA MD DSc FRCPath Professor of Tumor Pathology Royal Marsden Hospital and Institute of Cancer Research University of London UK Adult Small Round Cell Tumors Ewing Sarcoma • Ewing sarcoma • Any age • Ewing sarcoma-like tumors • mostly young adults • Desmoplastic small round cell tumor • Bone or soft tissue • Mesenchymal chondrosarcoma • Thorax, paravertebral • Small cell osteosarcoma • Abdomen • Poorly differentiated synovial sarcoma • Lung/chest wall • Small cell MPNST • Skin • Myoepithelial tumor • Aggressive • Clear cell sarcoma like tumor of GI tract • NE carcinoma, lymphoma, melanoma • Endometrial stromal sarcoma • Seminoma 1 4/13/2016 Ewing Sarcoma Ewing Sarcoma Ewing Sarcoma • Small round cell • Atypical • CD99 + • large cell • CK ± • Adamantinoma-like • S100 pr ± • Clear cell • CD56 ± • Sclerosing CD99 CK • FLI1 ± • ERG ± • NKX2.2 + Folpe 2005; Llombart-Bosch 2009 NKX2.2 Ewing Sarcoma: Ultrastructure NK2 homeobox 2, at 20p11.22 (target of EWSR1-FLI1) • Ewing sarcoma >90% • Olfactory neuroblastoma 80-100% • Small cell carcinoma 25-30% • Mesenchymal chondrosarcoma 33-75% • PD synovial sarcoma 13% • Desmoplastic SRCT 0% • Merkel cell carcinoma 0% *1 of CIC-DUX4 sarcoma, DSRCT, neuroblastoma, myoepithelial ca Yoshida 2012;* Hung 2016 2 4/13/2016 Ewing Sarcoma Ewing Sarcoma and ES-like Tumors • t(11;22)(q24;q12) EWSR1-FLI1 85% • Primitive cells • t(21;22)(q22;q12) EWSR1-ERG 10% • Scanty cytoplasm • t(2;22)(q35;q12) EWSR1-FEV • Few organelles • t(7;22)(p22;q12) EWSR1-ETV1 • Rare • t(17;22)(q12;q12) EWSR1-E1AF • inv(22)t(1;22)(q12;q12) EWSR1-ZSG • tonofilaments • t(2;22)(q31;q12) EWSR1-SP3 • junctions • t(20;22)(q13;q12) EWSR1-NFATC2 • neural • t(4;22)(q31;q12) EWSR1-SMARCA5 processes • t(16;21)(p11;q22) FUS-ERG • Glycogen • t(2;16)(q35;p11) FUS-FEV • t(4;19)(q35;q13) CIC-DUX4 • inv(X)(p11.4p11.22) BCOR-CCNB3 • t(X;19)(q13;q13) CIC-FOXO4 Ewing Sarcoma with FUS-ERG fusion S100 pr Ewing Sarcoma with FUS-ERG fusion SOX10 • F 27 • subcutaneous lesion thigh • circumscribed • 2 cm diameter • encapsulated • CD99 • ERG CD99 • S100 pr ERG • SOX10 • NKX.2.2 FUS-ERG 3 4/13/2016 ‘Promiscuous’ Fusions Ewing Sarcoma and ES-like Tumors • EWSR1-CREB1 angiomatoid FH, clear cell sarcoma, CCSLTGIT, PPMS • t(11;22)(q24;q12) EWSR1-FLI1 85% • EWSR1-ATF1 • t(21;22)(q22;q12) EWSR1-ERG 10% angiomatoid FH, clear cell sarcoma, CCSLTGIT • t(2;22)(q35;q12) EWSR1-FEV myoepithelial tumor, angiosarcoma, salivary HCCC, CCOC • ETV6-NTRK3 • t(7;22)(p22;q12) EWSR1-ETV1 infantile fibrosarcoma, inflammatory myofibroblastic tumor, • t(17;22)(q12;q12) EWSR1-E1AF mesoblastic nephroma, AML, secretory ca breast, mammary analogue secretory carcinoma of salivary glands, GIST • inv(22)t(1;22)(q12;q12) EWSR1-ZSG • ASPSCR1-TFE3 • t(2;22)(q31;q12) EWSR1-SP3 alveolar soft part sa, juvenile renal cell carcinoma • t(20;22)(q13;q12) EWSR1-NFATC2 • TMP3-ALK inflammatory myofibroblastic tumor, anaplastic large cell lymphoma • t(4;22)(q31;q12) EWSR1-SMARCA5 • YWHAE-NUTM22A/B • t(16;21)(p11;q22) FUS-ERG endometrial stromal sarcoma, clear cell sarcoma of kidney • t(2;16)(q35;p11) FUS-FEV • FUS-ERG Ewing sarcoma, AML • t(4;19)(q35;q13) CIC-DUX4 • BRD4-NUT • inv(X)(p11.4p11.22) BCOR-CCNB3 Ewing-like sarcoma, thymic & other carcinomas • t(X;19)(q13;q13) CIC-FOXO4 CIC-DUX4 Tumors with CIC-DUX4 fusion • t(4;19)(q35;q13.1) • CD99+ • t(10;19)(q26.3;q13.1) (67% diffuse) • CK • Adult or pediatric • S100pr • Trunk, extremities • MUC4 • Mild pleomorphism, nucleoli • desmin • WT1 • Highly aggressive • Calretinin • FLI1± • ERG • c-MYC Graham 2012; Italiano 2012; Choi 2013; Machado 2013; Specht 2014; Yoshida 2015 ; Smith 2015 Original images courtesy Dr EA Montgomery 4 4/13/2016 CIC-DUX4 vs Ewing sarcoma Tumors with BCOR-CCNB3 Fusion CIC-DUX ES • t(X;X)(p11;p11) • Nuclear pleomorphism +/- - • M, 7-13 years, trunk, extremities • Nucleoli +/- - • Bone or soft tissue • Myxoid change + - • 5 year survival 75%, 10 year 56% • CD99 +/-focal uniform • Also BCOR-MAML3, BCOR-ZC3H7B • WT1, calretinin + + • NKX2.2 - + Graham 2012; Italiano 2012; Choi 2013; Machado 2013; Smith 2014; Specht 2014; Yoshida 2015 Pierron 2012; Cohen-Gogo, 2014; Puls 2014; Peters 2015 BCOR-CCNB3 E/S Mesenchymal Chondrosarcoma • CCNB3 • CD99+ (60%) CD99 • bcl-2 (90%)CCNB3 CD99 • CD117 (60%) Original images courtesy Drs F Puls and V Sumathi 5 4/13/2016 Mesenchymal Chondrosarcoma Small Cell Osteosarcoma Ultrastructure % • no external lamina • <1% of osteosarcoma • surface processes • Peak 3rd-4th decade • RER 37 • glycogen • Behavior like conventional 25 OS, but limited experience 12.5 Translocation • t(8;8)(q21;q13.3) 12.5 • HEY1-NCOA2 12.5 Image courtesy of Dr R Tirabosco Small Cell Osteosarcoma SATB2 Special AT-rich sequence binding protein 2 2q33 • Small cell osteosarcoma 100% Ultrastructure• CD99 - • Undifferentiated pleo. sarcoma (bone) 50% • •fibroblasticEWSR1 - • EWSR1-CREB3L1RER • Fibrosarcoma (bone) 45% • no external • FUSlamina - • Mes chondrosarcoma 23% • CIC-DUX - • glycogen • Ewing sarcoma 10% • •pre-osteoidSATB2+ • DLBC lymphoma 17% Righi 2015; Davis 2015 Original images courtesy Dr R Tirabosco Debelenko 2011; Righi 2015, Davis 2015 6 4/13/2016 Synovial Sarcoma Synovial Sarcoma % 100 80 60 CK EMA 40 20 0 CK EMA bcl2 CD99 S100 CD34 Des SMA calret b-cat CD56 Synovial Sarcoma TLE1 % 100 • Transducin-like enhancer of Split • 9q21.32 80 • Groucho/TLE family – transcription inhibitors • Derived from profiling studies 60 • Santa Cruz Biotechnology M101 1:20 40 • Cell Marque Clone 1F5 1:200 20 0 CK EMA bcl2 CD99 S100 CD34 Des SMA calret b-cat CD56 TLE1 7 4/13/2016 TLE1 Synovial Sarcoma • Synovial sarcoma 90-100% Monophasic SS • External lamina • Sometimes positive in • fragmented • MPNST • fibrosarcoma • Cell processes • solitary fibrous tumor MPNST • Junctions • mesothelioma • sarcoma NOS Poorly Differentiated SS • Useful when negative Fisher 1987 Kosemehmetoglu 2009; Jagdis 2009; Knosel 2009; Foo 2011 Synovial Sarcoma 8 4/13/2016 Malignant Peripheral Nerve Sheath Tumor Synovial Sarcoma • SS18 (18q11.2) • SSX (Xp11.21-23) types 1, 2, 4 (of 5) • SS18/SSX fusion genes 60% SSX1 40% SSX2 <1% SSX4 • Fusion protein competes with wild type SS18 - loss of BAF47 > SOX2 activation > proliferation Ladanyi 2002; Guillou 2004; Baird 2005; Storlazzi 2007; Amary 2007; Nakayama 2007; Kadoch 2013 MPNST: Small cell Malignant Peripheral Nerve Sheath Tumor % 100 SOX10S100 pr 80 60 40 20 0 S100 CD34 bcl2 GFAP PGP Des SMA CK EMA cat calret nestin TLE1 SOX10 9 4/13/2016 SOX10 Schwannoma MPNST • SRY-related HMG Box 10 (22q13.1) • Melanocytes, Schwann cells, myoepithelial cells, mast cells • BPNST • Schwannoma, neurofibroma, granular cell tumor Ultrastructure • MPNST 49% (SS 3%) • external lamina • more sensitive than S100 protein • interdigitating processes • pseudomesaxons • Clear cell sarcoma of soft tissue • Luse bodies • Myoepithelial tumors • Salivary gland tumors Nonaka 2008; Ordonez 2013; Miettinen 2015 Malignant Peripheral Nerve Sheath Tumor Malignant Peripheral Nerve Sheath Tumor Am J Surg Pathol. 2015 • 17p, 17q abnormalities • NF1 (17q11.2) inactivation • sporadic and in NF1 rabbit monoclonal antibody, clone C36B11 (1:200 dilution; Cell Signaling Technology, Danvers, MA). • neurofibromin – Ras inactivation • 69% of all MPNST show complete or partial loss • TP53 (17p13) • 0% of epithelioid MPNST showed loss • mutations • CDKN2A (9p21) (p16INK4A) • mutations, deletion • EGFR (7p12) • Overexpression • Loss of H3K27me3 expression (1q42) (sporadic and postradiation) Carroll 2012; Prieto-Grenada 2015 10 4/13/2016 Malignant Myoepithelial Tumors Myoepithelial Tumors of ST/Bone • M > F, 0-83 years (38) • Limbs, HN, trunk, lung • Subcutaneous > deep • Circumscribed • 42% myoepithelioma • 25% mixed tumors • 32% ca or malignant mixed tumors Stout 1959; Kilpatrick 1997; Fernandez-Figueras 1998; Michal 1999; Kutzner 2001; Mentzel 2003; Hornick 2003; Flucke 2011; Agaram 2014; Puls 2014; Huang 2015 Myoepithelial Tumors of ST/Bone/Lung Myoepithelial Tumors of ST/Bone/Lung % 100 INI1EMA 90 • t(6;22)(p21;q12) EWSR1-POU5F1 (4/6 malignant) 80 • t(1;22)(q23;q12) EWSR1-PBX1 (3/7 mal) 70 • t(19:22(q13;q12) EWSR1-ZNF444 (2/2 mal) 60 • t(12;22)(q13;q12) EWSR1-ATF1 (0/1 mal) 50 40 • t(9;22)(q33;q12) EWSR1-PBX3 (0/3 mal) 30 • t(6;16)(p21;p11) FUS-POU5F1 (0/1 mal) 20 • t(1;22))(p34;q12) EWSR1-KLF17 (0/1 mal)* 10 0 • t(1;16)(p34;p11) FUS-KLF17 (1/5 mal) AE1/3 EMA S100 GFAP SMA Calpo Des p63 INI1 SOX10 Aggregated Data Brandal 2008; Brandal 2009; Antonescu 2010; Flucke 2012; Agaram 2014; Puls 2014; Huang 2015; Leduc 2016 *kidney 2015 11 4/13/2016 Myoepithelial Tumors of ST/Bone/Lung • Morphology variable • IHC variable • EMA, S100 protein • Genetics variable • EWSR1, FUS • Many partners • Gold standard EM CCS-like Tumor of GI Tract CCS-like Tumor of GI Tract • About 40 cases • In bowel wall • M>F, median 41 years • Solid sheets • Ileum > jejunum > stomach • Discohesion • Metastasis to lymph node, liver • Mitoses, necrosis • Poor 2 year survival • O-L giant cells • Large size, necrosis are adverse • Aggressive Alpers 1985; Donner 1998; Fukuda 2000; Pauwels 2002; Zambrano 2003; Friedrichs 2005; Venkataraman 2005; Huang 2006;; Antonescu 2006; Comin 2007; Joo 2009; Lagmay 2009; Terazawa 2009; Balkaransingh 2011; Shenjere 2012; Stockman 2012; Yang 2012; Thway 2014; Yegen 2015 12 4/13/2016 CCS-like Tumor of GI Tract CCS-like Tumor of GI Tract GI tract Soft tissue • S100 pr 100% 100% • HMB45Uniform
Load more

Recommended publications
  • Expression of ALK1 and P80 in Inflammatory Myofibroblastic Tumor and Its Mesenchymal Mimics: a Study of 135 Cases Melissa H
    Expression of ALK1 and p80 in Inflammatory Myofibroblastic Tumor and Its Mesenchymal Mimics: A Study of 135 Cases Melissa H. Cessna, M.D., Holly Zhou, M.D., Warren G. Sanger, Ph.D., Sherrie L. Perkins, M.D., Ph.D., Sheryl Tripp, M.T., Diane Pickering, M.S., Clark Daines, M.D., Cheryl M. Coffin, M.D. Department of Pathology, Primary Children’s Medical Center and University of Utah School of Medicine, Salt Lake City, Utah (MHC, HZ, SLP, ST, CD, CMC); and Department of Pediatrics, University of Nebraska Medical Center, Omaha, Nebraska (WGS, DP) between structural abnormalities involving 2p23 or Abnormalities of chromosome 2p23 with expres- additional copies of 2p23, it supports the concept of sion of ALK1 and p80 occur in both inflammatory ALK involvement in a larger group of neoplasms, myofibroblastic tumor (IMT) and anaplastic large some of which have other documented clonal ab- cell lymphoma. This immunohistochemical study normalities. In IMT, immunohistochemistry for investigates whether the ALK family of neoplasms ALK1 and p80 is useful as an indicator of a 2p23 includes fibroblastic–myofibroblastic, myogenic, abnormality, but it must be interpreted in the con- and spindle cell tumors. Formalin-fixed paraffin- text of histologic and other clinicopathologic data if embedded archival tissues from 10 IMTs and 125 used as an adjunct to differential diagnosis. other soft tissue tumors were stained for ALK1 and p80 with standard immunohistochemistry. ALK1 KEY WORDS: ALK gene rearrangements, ALK im- and/or p80 reactivity was observed in a cytoplasmic munohistochemistry, Anaplastic large cell lym- pattern in IMT (4/10; 40%), malignant peripheral phoma, Inflammatory myofibroblastic tumor.
    [Show full text]
  • 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]
  • Download This PDF File
    University Journal of Pre and Para Clinical Sciences ISSN 2455–2879 2017, Vol.3(4) SOLITARY FIBROUS TUMOR OF LUNG MIMICKING AS LUNG METASTASIS IN A KNOWN CASE OF WILMS TUMOR. SELVI Department of Pathology, MADRAS MEDICAL COLLEGE AND GOVERNMENT GENERAL HOSPITAL Abstract : Solitary fibrous tumor is the most common benign mesenchymal pleural neoplasm. It also affects mediastinum, lungs and other organs of any individual from young children to adults without sex predilection. Here we report a case of 4 years old child, a known case of treated Wilms tumor, presenting with a Solitary fibrous tumor of lung that was clinically mistaken for a lung metastasis. Ametachronous benign tumor occurring after a malignant tumor is a rare entity and whether it could bea part of any syndrome could not be established due to lack of molecular diagnostic studies. Keyword :Metachronous tumor Wilms tumor - Solitary fibrous tumor Lung. FIG 2 CT Image Axial View Mass Lesion R Lung INTRODUCTION: As the patient is a known case of Wilms tumor operated one year back, a clinical diagnosis ofmetastatic Solitary Fibrous Tumor (SFT) is a rare benign neoplasm Wilms tumor was considered. Right thoracotomy was done and arising from pleura, mediastinum and the tumor was seen as a huge pleuro pulmonary mass and the lungs and virtually at any anatomic location. The tumor is most tumor was excised. The child gave a past history of being common in patients between 20 and 70years old. Hence we operated for Wilm’s tumor – Triphasic type, one year back, report a rare case of pulmonary SFT in 4year old child, who was followed by chemo and radiotherapy for the same ailment.
    [Show full text]
  • Soft Tissue Cytopathology: a Practical Approach Liron Pantanowitz, MD
    4/1/2020 Soft Tissue Cytopathology: A Practical Approach Liron Pantanowitz, MD Department of Pathology University of Pittsburgh Medical Center [email protected] What does the clinician want to know? • Is the lesion of mesenchymal origin or not? • Is it begin or malignant? • If it is malignant: – Is it a small round cell tumor & if so what type? – Is this soft tissue neoplasm of low or high‐grade? Practical diagnostic categories used in soft tissue cytopathology 1 4/1/2020 Practical approach to interpret FNA of soft tissue lesions involves: 1. Predominant cell type present 2. Background pattern recognition Cell Type Stroma • Lipomatous • Myxoid • Spindle cells • Other • Giant cells • Round cells • Epithelioid • Pleomorphic Lipomatous Spindle cell Small round cell Fibrolipoma Leiomyosarcoma Ewing sarcoma Myxoid Epithelioid Pleomorphic Myxoid sarcoma Clear cell sarcoma Pleomorphic sarcoma 2 4/1/2020 CASE #1 • 45yr Man • Thigh mass (fatty) • CNB with TP (DQ stain) DQ Mag 20x ALT –Floret cells 3 4/1/2020 Adipocytic Lesions • Lipoma ‐ most common soft tissue neoplasm • Liposarcoma ‐ most common adult soft tissue sarcoma • Benign features: – Large, univacuolated adipocytes of uniform size – Small, bland nuclei without atypia • Malignant features: – Lipoblasts, pleomorphic giant cells or round cells – Vascular myxoid stroma • Pitfalls: Lipophages & pseudo‐lipoblasts • Fat easily destroyed (oil globules) & lost with preparation Lipoma & Variants . Angiolipoma (prominent vessels) . Myolipoma (smooth muscle) . Angiomyolipoma (vessels + smooth muscle) . Myelolipoma (hematopoietic elements) . Chondroid lipoma (chondromyxoid matrix) . Spindle cell lipoma (CD34+ spindle cells) . Pleomorphic lipoma . Intramuscular lipoma Lipoma 4 4/1/2020 Angiolipoma Myelolipoma Lipoblasts • Typically multivacuolated • Can be monovacuolated • Hyperchromatic nuclei • Irregular (scalloped) nuclei • Nucleoli not typically seen 5 4/1/2020 WD liposarcoma Layfield et al.
    [Show full text]
  • Diagnostic Immunohistochemistry for Canine Cutaneous Round Cell Tumours — Retrospective Analysis of 60 Cases
    FOLIA HISTOCHEMICA ORIGINAL PAPER ET CYTOBIOLOGICA Vol. 57, No. 3, 2019 pp. 146–154 Diagnostic immunohistochemistry for canine cutaneous round cell tumours — retrospective analysis of 60 cases Katarzyna Pazdzior-Czapula, Mateusz Mikiewicz, Michal Gesek, Cezary Zwolinski, Iwona Otrocka-Domagala Department of Pathological Anatomy, Faculty of Veterinary Medicine, University of Warmia and Mazury in Olsztyn, Olsztyn, Poland Abstract Introduction. Canine cutaneous round cell tumours (CCRCTs) include various benign and malignant neoplastic processes. Due to their similar morphology, the diagnosis of CCRCTs based on histopathological examination alone can be challenging, often necessitating ancillary immunohistochemical (IHC) analysis. This study presents a retrospective analysis of CCRCTs. Materials and methods. This study includes 60 cases of CCRCTs, including 55 solitary and 5 multiple tumours, evaluated immunohistochemically using a basic antibody panel (MHCII, CD18, Iba1, CD3, CD79a, CD20 and mast cell tryptase) and, when appropriate, extended antibody panel (vimentin, desmin, a-SMA, S-100, melan-A and pan-keratin). Additionally, histochemical stainings (May-Grünwald-Giemsa and methyl green pyronine) were performed. Results. IHC analysis using a basic antibody panel revealed 27 cases of histiocytoma, one case of histiocytic sarcoma, 18 cases of cutaneous lymphoma of either T-cell (CD3+) or B-cell (CD79a+) origin, 5 cases of plas- macytoma, and 4 cases of mast cell tumours. The extended antibody panel revealed 2 cases of alveolar rhabdo- myosarcoma, 2 cases of amelanotic melanoma, and one case of glomus tumour. Conclusions. Both canine cutaneous histiocytoma and cutaneous lymphoma should be considered at the beginning of differential diagnosis for CCRCTs. While most poorly differentiated CCRCTs can be diagnosed immunohis- tochemically using 1–4 basic antibodies, some require a broad antibody panel, including mesenchymal, epithelial, myogenic, and melanocytic markers.
    [Show full text]
  • The Health-Related Quality of Life of Sarcoma Patients and Survivors In
    Cancers 2020, 12 S1 of S7 Supplementary Materials The Health-Related Quality of Life of Sarcoma Patients and Survivors in Germany—Cross-Sectional Results of A Nationwide Observational Study (PROSa) Martin Eichler, Leopold Hentschel, Stephan Richter, Peter Hohenberger, Bernd Kasper, Dimosthenis Andreou, Daniel Pink, Jens Jakob, Susanne Singer, Robert Grützmann, Stephen Fung, Eva Wardelmann, Karin Arndt, Vitali Heidt, Christine Hofbauer, Marius Fried, Verena I. Gaidzik, Karl Verpoort, Marit Ahrens, Jürgen Weitz, Klaus-Dieter Schaser, Martin Bornhäuser, Jochen Schmitt, Markus K. Schuler and the PROSa study group Includes Entities We included sarcomas according to the following WHO classification. - Fletcher CDM, World Health Organization, International Agency for Research on Cancer, editors. WHO classification of tumours of soft tissue and bone. 4th ed. Lyon: IARC Press; 2013. 468 p. (World Health Organization classification of tumours). - Kurman RJ, International Agency for Research on Cancer, World Health Organization, editors. WHO classification of tumours of female reproductive organs. 4th ed. Lyon: International Agency for Research on Cancer; 2014. 307 p. (World Health Organization classification of tumours). - Humphrey PA, Moch H, Cubilla AL, Ulbright TM, Reuter VE. The 2016 WHO Classification of Tumours of the Urinary System and Male Genital Organs—Part B: Prostate and Bladder Tumours. Eur Urol. 2016 Jul;70(1):106–19. - World Health Organization, Swerdlow SH, International Agency for Research on Cancer, editors. WHO classification of tumours of haematopoietic and lymphoid tissues: [... reflects the views of a working group that convened for an Editorial and Consensus Conference at the International Agency for Research on Cancer (IARC), Lyon, October 25 - 27, 2007]. 4. ed.
    [Show full text]
  • Non-Wilms Renal Cell Tumors in Children
    PEDIATRIC UROLOGIC ONCOLOGY 0094-0143/00 $15.00 + .OO NON-WILMS’ RENAL TUMORS IN CHILDREN Bruce Broecker, MD Renal tumors other than Wilms’ tumor are tastases occur in 40% to 60% of patients with infrequent in childhood. Wilms’ tumors ac- clear cell sarcoma of the kidney, whereas they count for 6% to 7% of childhood cancer, are found in less than 2% of patients with whereas the remaining renal tumors account Wilms’ tumor.**,26 This distinct clinical behav- for less than l%.27The most common non- ior is one of the features that has led to its Wilms‘ tumors are clear cell sarcoma of the designation as a separate tumor. Other clini- kidney, rhabdoid tumor of the kidney (both cal features include a lack of association with formerly considered unfavorable Wilms’ tu- sporadic aniridia or hemihypertrophy. mor variants but now considered separate tu- Clear cell sarcoma of the kidney has not mors), renal cell carcinoma, mesoblastic been reported to occur bilaterally and is not nephroma, and multilocular cystic nephroma. associated with nephroblastomatosis. It has Collectively, these tumors account for less been reported in infancy and adulthood, but than 10% of the primary renal neoplasms in the peak incidence is between 3 and 5 years childhood. of age. It has an aggressive behavior that responds poorly to treatment with vincristine and actinomycin alone, leading to its original CLEAR CELL SARCOMA designation by Beckwith as an unfavorable histology pattern. The addition of doxorubi- Clear cell sarcoma of the kidney is cur- cin in aggressive chemotherapy regimens has rently considered a separate tumor distinct improved outcome.
    [Show full text]
  • Novel KHDRBS1-NTRK3 Rearrangement in a Congenital Pediatric CD34-Positive Skin Tumor: a Case Report
    Virchows Archiv (2019) 474:111–115 https://doi.org/10.1007/s00428-018-2415-0 BRIEF REPORT Novel KHDRBS1-NTRK3 rearrangement in a congenital pediatric CD34-positive skin tumor: a case report Matthias Tallegas1 & Sylvie Fraitag2 & Aurélien Binet3 & Daniel Orbach4 & Anne Jourdain5 & Stéphanie Reynaud6 & Gaëlle Pierron6 & Marie-Christine Machet1,8 & Annabel Maruani7,8,9 Received: 15 May 2018 /Revised: 11 July 2018 /Accepted: 12 July 2018 /Published online: 6 September 2018 # Springer-Verlag GmbH Germany, part of Springer Nature 2018 Abstract Cutaneous spindle-cell neoplasms in adults as well as children represent a frequent dilemma for pathologists. Along this neoplasm spectrum, the differential diagnosis with CD34-positive proliferations can be challenging, particularly concerning neoplasms of fibrohistiocytic and fibroblastic lineages. In children, cutaneous and superficial soft-tissue neoplasms with CD34-positive spindle cells are associated with benign to intermediate malignancy potential and include lipofibromatosis, plaque-like CD34-positive dermal fibroma, fibroblastic connective tissue nevus, and congenital dermatofibrosarcoma protuberans. Molecular biology has been valuable in showing dermatofibrosarcoma protuberans and infantile fibrosarcoma that are characterized by COL1A1-PDGFB and ETV6-NTRK3 rearrangements respectively. We report a case of congenital CD34- positive dermohypodermal spindle-cell neoplasm occurring in a female infant and harboring a novel KHDRBS1-NTRK3 fusion. This tumor could belong to a new subgroup of pediatric cutaneous spindle-cell neoplasms, be an atypical presentation of a plaque-like CD34-positive dermal fibroma, of a fibroblastic connective tissue nevus, or represent a dermatofibrosarcoma protuberans with an alternative gene rearrangement. Keywords Cutaneous . Neoplasms . Spindle-cell Introduction Cutaneous spindle-cell proliferations form a large spectrum of * Annabel Maruani neoplasms occurring in children and adults.
    [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]
  • Morphological and Immunohistochemical Characteristics of Surgically Removed Paediatric Renal Tumours in Latvia (1997–2010)
    DOI: 10.2478/v10163-012-0008-6 ACTA CHIRURGICA LATVIENSIS • 2011 (11) ORIGINAL ARTICLE Morphological and Immunohistochemical Characteristics of Surgically Removed Paediatric Renal Tumours in Latvia (1997–2010) Ivanda Franckeviča*,**, Regīna Kleina*, Ivars Melderis** *Riga Stradins University, Riga, Latvia **Children’s Clinical University Hospital, Riga, Latvia Summary Introduction. Paediatric renal tumours represent 7% of all childhood malignancies. The variable appearances of the tumours and their rarity make them especially challenging group of lesions for the paediatric pathologist. In Latvia diagnostics and treatment of childhood malignancies is concentrated in Children’s Clinical University Hospital. Microscopic evaluation of them is realised in Pathology office of this hospital. Aim of the study is to analyze morphologic spectrum of children kidney tumours in Latvia and to characterise them from modern positions with wide range of immunohistochemical markers using morphological material of Pathology bureau of Children’s Clinical University Hospital. Materials and methods. We have analyzed surgically removed primary renal tumours in Children Clinical University Hospital from the year 1997 till 2010. Samples were fixed in 10% formalin fluid, imbedded in paraffin and haematoxylin-eosin stained slides were re-examined. Immunohistochemical re-investigation was made in 65.91% of cases. For differential diagnostic purposes were used antibodies for the detection of bcl-2, CD34, EMA, actin, desmin, vimentin, CKAE1/AE3, CK7, Ki67, LCA, WT1, CD99, NSE, chromogranin, synaptophyzin, S100, myoglobin, miogenin, MyoD1 (DakoCytomation) and INI1 protein (Santa Cruz Biotechnology). Results. During the revised period there were diagnosed 44 renal tumours. Accordingly of morphological examination data neoplasms were divided: 1) nephroblastoma – 75%, 2) clear cell sarcoma – 2.27%, 3) rhabdoid tumour – 4.55%, 4) angiomyolipoma – 4.55%, 5) embrional rhabdomyosarcoma – 2.27%, 6) mesoblastic nephroma – 4.55%, 7) multicystic nephroma – 4.55%, 8) angiosarcoma – 2.27%.
    [Show full text]
  • Dermatofibrosarcoma Protuberans and Dermatofibroma: Dermal Dendrocytomas? a Ultrastructural Study
    Dermatofibrosarcoma Protuberans and Dermatofibroma: Dermal Dendrocytomas? A Ultrastructural Study Hugo Dominguez-Malagon, M.D., Ana Maria Cano-Valdez, M.D. Department of Pathology, Instituto Nacional de Cancerología, Mexico. ABSTRACT population of plump spindled cells devoid of cell processes, these cells contained intracytoplasmic lipid droplets and rare Dermatofibroma (DF) and Dermatofibrosarcoma subplasmalemmal densities but lacked MVB. Protuberans (DFSP) are dermal tumors whose histogenesis has not been well defined to date. The differential diagnosis in most With the ultrastructural characteristics and the constant cases is established in routine H/E sections and may be confirmed expression of CD34 in DFSP, a probable origin in dermal by immunohistochemistry; however there are atypical variants dendrocytes is postulated. The histogenesis of DF remains of DF with less clear histological differences and non-conclusive obscure. immunohistochemical results. In such cases electron microscopy studies may be useful to establish the diagnosis. INTRODUCTION In the present paper the ultrastructural characteristics of 38 The histogenesis or differentiation of cases of DFSP and 10 cases of DF are described in detail, the Dermatofibrosarcoma Protuberans (DFSP) and objective was to identify some features potentially useful for Dermatofibroma (DF) is controversial in the literature. For differential diagnosis, and to identify the possible histogenesis of DFSP diverse origins such as fibroblastic,1 fibro-histiocytic2 both neoplasms. Schwannian,3 myofibroblastic,4 perineurial,5,6 and endoneurial (7) have been postulated. DFSP in all cases was formed by stellate or spindled cells with long, slender, ramified cell processes joined by primitive junctions, Regarding DF, most authors are in agreement of a subplasmalemmal densities were frequently seen in the processes.
    [Show full text]