DOCSLIB.ORG

Learning Objectives Financial Relationships 1

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text

Load more

3/24/2017 WHO has an update on the Disclosure of Relevant Histiocytoses?...Check your Blood: Financial Relationships A brief update on the pathogenesis USCAP requires that all planners (Education Committee) in a position to and histopathology of histiocytic influence or control the content of CME disclose any relevant financial relationship WITH COMMERCIAL INTERESTS which they or their neoplasms spouse/partner have, or have had, within the past 12 months, which relates to the content of this educational activity and creates a conflict of interest. Jennifer Picarsic, MD Pediatric Pathologist Children’s Hospital of Pittsburgh of UPMC Assistant Professor, University of Pittsburgh School of Medicine Society for Hematopathology Companion Meeting USCAP 2017 Disclosure of Relevant Learning objectives Financial Relationships 1. Understand that histiocytic neoplasms are USCAP requires that all faculty in a position to heterogeneous with overlapping features and an influence or control the content of CME disclose any relevant financial unifying diagnosis requires: relationship WITH COMMERCIAL INTERESTS which they or their spouse/partner have, or have had, within the past 12 months, which relates to Pathology: MIP the content of this educational activity and creates a conflict of interest. • Morphology, Immunophenotype, Pattern of involvement Dr. Jennifer Picarsic declares he/she has no conflict(s) of interest Clinical and Radiographic findings to disclose. 2. Review updates to the classification scheme… Pathogenesis: Inflammatory myeloid neoplasms? Mixed histiocytic lesions Molecular updates 1 3/24/2017 WHO classification of tumours of haematopoietic and lymphoid tissues Swerdlow S, Campo E, Harris N et al. Lyon: IARC Press, 2008 2008 Update: • Histiocytic sarcoma • Tumors derived from Langerhans cells • Interdigitating dendritic cell sarcoma • Follicular dendritic cell sarcoma • Other rare dendritic cell tumors: • Indeterminate dendritic cell tumor • Fibroblastic reticular cell tumor • Disseminated juvenile xanthogranuloma (ECD) • Not covered: Reticulohistiocytosis and Rosai Dorfman Disease –> WHO Classification of Tumours of Skin ** • Should be distinguished from other members of the juvenile xanthogranuloma family • Often associated with BRAF mutations * ** • Clonal relationship to lymphoid neoplasms recognized in some cases Emile JF, et al. Blood. 2016;Jun 2;127(22):2672‐81. Image courtesy of : Benjamin H. Durham, M.D., Genomic Pathology Research Fellow in Molecular Oncology Department of Pathology Memorial Sloan Kettering Cancer Center Langerhans cell histiocytosis (LCH) Erdheim‐Chester Disease (ECD) 2 3/24/2017 Langerhans cell histiocytosis (LCH) **Taken out of the classification • MIP*: CD1a ≠ LCH – LCH vs Dendritic cell/Langerhans cell hyperplasia (mesenchymal origin): – Pattern of involvement is important Follicular Dendritic Cell Sarcoma: FDC (CD21, CD23, CD35) • Updates to proposed classification Fibroblastic reticular cell tumor: Interstitial reticulum cell (CK, actins) – Myeloid inflammatory neoplasia – BRAF and beyond – “L” Group • LCH • Mixed LCH/ECD • ECD (Erdheim Chester Disease) • ICH (Indeterminate cell histiocytosis) *Morphology, Immunophenotype, Pattern of involvement CD1a CD1a S100 S100 CD1a CD1a VE1(+) BRAF VE1(‐) BRAF CD207 = Langerin CD207 3 3/24/2017 Pattern of Nodal LCH – Sinus Disease CD1a CD207 LCH? Dendritic cell hyperplasia‐ Not LCH LCH? CD1a S100 4 3/24/2017 CD1a S100 CLL with dendritic cell (DC) hyperplasia CD207 CD207 Not LCH Bone marrow LCH CD1a Myeloid inflammatory neoplasia • LCH distinct gene expression profile from skin LC • In vivo animal models and human studies – LCH is derived from immature myeloid dendritic cells of the bone marrow (BM) BM LCH?? CD163+, – Clinically distinct LCH groups defined by: neg CD207 and CD1a • BRAF‐V600E mutation within CD34+ BM progenitor cells and circulating CD11c+/CD14+ cells (MS‐LCH) versus only in tissue restricted CD207+ dendritic cells (SS‐LCH). • *Misguided myeloid differentiation model: “Mutations in the MAPK/ERK pathway at critical stages in myeloid differentiation appear to be an essential and universal driver of LCH pathology and clinical phenotypes” Allen CE, et al. J Immunol. 2010;184(8):4557‐67. *Berres ML, J Exp Med. 2014;211(4):669‐83. BRAF Prognostic Marker? BRAF and beyond …LCH BRAF Mutation Correlates with High‐Risk LCH and • BRAF‐V600E: Highly dependent of the method of Increased Resistance to First‐Line Therapy testing: Highly sensitive PCR methods are Heritier S. J Clin Oncol. 2016;34(25):3023‐30 recommended in order to detect small allelic fractions (~1% mutant) Higher reactivation rate (5‐year) – 42.8% v. wt 28.1%; P = .006 • BRAF‐V600E can co‐occur • Increased resistance to combined vinblastine and with ARAF, MAP3K1 corticosteroid Rx • BRAF exon 12 in‐frame – 21.9% v. wt 3.3%; P = .001 deletions* • Higher Rate of permanent consequence • FAM73A‐BRAF gene fusion* Mutations and in‐ (including DI, ND‐LCH) frame deletions – 27.9% and wt 12.6%; P = .001 *Chakraborty R,. Blood. 2016;128(21):2533‐37. Allen CE, Parsons DW. Hematology Am Soc Hematol Educ Program. 2015;2015:559‐64. 5 3/24/2017 Diverse Future tools… ** BRAF-V600E testing in circulating peripheral blood Kinase ` Alterations cells/BM (CLIA approved*) and/or cell free DNA in LCH: • *Ferguson LS, Webb R, Sarabia S, Alvarez K, Allen C, McClain K, et al. A Highly Sensitive, Clinically‐Validated Assay to Quantitate BRAF p.V600E Mutations in Blood and Bone Marrow Samples of Langerhans Cell Histiocytosis Patients. Pediatric Blood & Cancer. 2016;63(S2):S34. • Donadieu J, Héritier S, Taly V, Sonia Garrigou, Terrones N, Normand C, et al. Abstracts from the 32nd Annual Meeting of the Histiocyte Society Dublin, Ireland October 17–19, 2016: Relevance of BRAFV600E Allele Detection in Circulating CFDNA as a Biomarker in Pediatric LCH. Pediatric Blood & Cancer. 2016;63(S2):S16‐7. • Santa‐Maria V, Celis V, C CdT, Mora J. Abstracts from the 32nd Annual Meeting of the Histiocyte Society Dublin, Ireland October 17–19, 2016; Badalian‐Very, et al. Blood 2010 Clinical use of BRAF Mutations Profile in LCH Patients for Diagnosis and Kansal, et al. Genes Chrom Cancer 2013 Monitoring of Treatment Response. Pediatric Blood & Cancer. Brown NA, et al. Blood 2014 2016;63(S2):S31. Chakraborty, et al. Blood 2014 • Hyman DM, Diamond EL, Vibat CR, Hassaine L, Poole JC, Patel M, et al. Nelson, et al. Genes Chrom Cancer 2015 Prospective blinded study of BRAFV600E mutation detection in cell‐free Image courtesy of : Benjamin H. Durham, M.D., DNA of patients with systemic histiocytic disorders. Cancer discovery. Chakraborty et al. Blood 2016 Genomic Pathology Research Fellow in Molecular Oncology 2015;5(1):64‐71. Lee et al. JCI Insight 2017** Department of Pathology Memorial Sloan Kettering Cancer Center “L” group Original skin biopsy of LCH, later shown to also be VE1+ VE1 Mixed ECD and LCH Johnson et al. J Cutan Pathol. 2015. Emile JF, et al. Blood. 2016;Jun 2;127(22):2672‐81 and Hervier B et al. Blood. 2014. Aug 14;124(7):1119‐26. Mar;43(3):270‐5. 2nd skin lesions with Retroperitoneal XG phenotype and biopsy BRAF‐V600E+ prompted ECD workup F13a VE1 Johnson et al. J Cutan Pathol. 2015. Johnson et al. J Cutan Pathol. Mar;43(3):270‐5. 2015. Mar;43(3):270‐5. 6 3/24/2017 Erdheim Chester Disease (ECD) ECD = Clinical, Radiographic, and Pathologic • MIP* ‐ Foamy CD68 histiocytes ≠ ECD – Clinicoradiographic correlation with xanthogranuloma phenotype is important – Molecular as an additional diagnostic aid • Updates to proposed classification – BRAF and beyond – Myeloid inflammatory neoplasia – “L” group lesion with XG immunophenotype • LCH • ECD (Erdheim Chester Disease) • Mixed LCH/ECD • ICH (indeterminate cell histiocytosis) PET 99Tc *Morphology, Immunophenotype, Pattern of involvement Diamond EL, et al. Blood. 2014;124(4):483‐92. CD68+ CD68 PGM1 CD163 Xanthomatous hisocytes ≠ ECD CD68 Fascin Factor 13a CD163 CD14 ECD with ECD with brain pericardial and pleural effusions involvement VE1 F13a Fascin 7 3/24/2017 BRAF and beyond …ECD Diverse • BRAF‐V600E: Highly dependent of the method of Kinase testing: Highly sensitive PCR methods are Alterations recommended in order to detect small allelic fractions in ECD: (~1% mutant) • BRAF‐V600E can co‐occur with ARAF, PIK3CA mutations • New targetable kinase gene fusions* ARAF – KIF5B‐ALK MAP2K1 Mutations and in‐ – LMNA‐NTRK1 frame deletions Image courtesy of : Haroche, et al. Blood 2012 Brown RA, et al. Blood 2015 Benjamin H. Durham, M.D., Diamond, et al. Blood 2013 Diamond, Durham, Haroche, et al. Cancer Discovery 2016 Genomic Pathology Research *Diamond EL, Durham BH, et al. Go, et al. Histopathology 2014 Durham, et al. Curr Opin Hematol. 2016 Cancer Discovery. 2016;6(2):154‐65. Emile, Diamond, et al. Blood 2014 Shanmugam, et al. Head Neck Pathol. 2016 Fellow in Molecular Oncology O’Malley, et al. Ann Diagn Pathol 2015 Lee, et al. JCI Insight 2017 Department of Pathology Kordes, et al. Leukemia 2015 Memorial Sloan Kettering Allen CE, Parsons DW. Hematology Am Soc Hematol Educ Program. 2015;2015:559‐64. Cancer Center L group lesion: Both ECD and LCH “L” group: Systemic JXG with mutations Inflammatory myeloid neoplasms? • BRAF‐V600E expressed in lesional cells along w/ BM progenitor cells and circulating monocytes/myeloid DC* ECD: • Gene expression profiles may still Extracutaneous or disseminated JXG support their divergent with MAPK activating mutations or ALK morphology/immunophenotype translocations – LCH from dendritic cells – ECD from monocytes Diamond EL, Durham BH, et al. Cancer
Recommended publications
  • FT117 Langerhans Cell Histiocytosis with Histopathological Features

    FT117 Langerhans Cell Histiocytosis with Histopathological Features

    FT117 Langerhans cell histiocytosis with histopathological features, single center experience Histopatolojik özellikleriyle langerhans hücreli histiyositoz, tek merkez deneyimi Fahriye KILINÇ Necmettin Erbakan Üniversitesi, Meram Tıp Fakültesi, Tıbbi Patoloji Anabilim Dalı, Konya Aim: Langerhans cell histiocytosis (LCH) is a rare histiocytic disease, occurring in 2-10 children per million and 1-2 adults per million, and may have a wide variety of clinical manifestations. Infiltration can develop in almost any organ (the most commonly reported organs are bone, skin, lymph nodes, lungs, thymus, liver, spleen, bone marrow and central nervous system). We aimed to evaluate the histopathological features of the lesions and review the literature in pediatric patients referred to our department for pathological examination and diagnosed as LCH. Materials and Methods: Retrospectively, childhood cases diagnosed with LCH in 2012-2019 were screened by hospital automation system. Age, gender, lesion localizations of the cases were recorded and histopathological features were reviewed. Results: 5 male and 5 female total of 10 cases were detected. The youngest 3 were under the age of 1, the oldest was 16 years old. Localization; 6 of the cases were bone (2 femur, 3 skull bone, 1 scapula), 2 skin, 1 bone and lymph node, 1 lung and lymph node. Histopathology revealed histiocytic cells with grooved nuclei, eosinophilic cytoplasm with eosinophils, and neutrophils in some cases. Immunohistochemical CD1a staining was positive in all cases and positivities were present with S100 in applied 9 cases, CD68 in 4. Ki67 proliferation index was studied in 2 patients with bone localization, 15% and 20%. Conclusion: The term LCH is due to the morphological and immunophenotypic similarity of the infiltrating cells of this disease to Langerhans cells specialized as dendritic cells in the skin and mucous membranes.
  • Skin Biopsy Diagnosis of Langerhans Cell Neoplasms

    Skin Biopsy Diagnosis of Langerhans Cell Neoplasms

    Chapter 3 Skin Biopsy Diagnosis of Langerhans Cell Neoplasms Olga L. Bohn, Julie Teruya-Feldstein and Sergio Sanchez-Sosa Additional information is available at the end of the chapter http://dx.doi.org/10.5772/55893 1. Introduction This chapter reviews the clinical presentation, histopathology, immunoprofile and molecular features of Langerhans cell neoplasms of the skin including Langerhans cell histiocytosis (LCH) and its malignant counterpart, Langerhans cell sarcoma (LCS). Biopsy of the skin is a useful method to confirm LCH/LCS diagnosis, as cutaneous involvement is seen in more than 50% cases. Skin can be the only presenting site of LCH, but it is usually seen as an integral part of multisystemic disease involvement. Langerhans cells (LC) are bone marrow-derived antigen presenting cells [1]. Although LC, dendritic cells and monocytic/histiocytic cells share a common multipotential progenitor cells that reside in the bone marrow, to the date, myeloid derived macrophages and dendritic cells constitute divergent lines of differentiation from bone marrow precursors [2]. However, recent evidence demonstrates that LC can be generated from lymphoid-committed CD4low precur‐ sors, suggesting the role of lineage plasticity/ trans-differentiation and clonal infidelity [3-4]. LC can be found in the epidermis and mucosal lining of multiple organs including cervix, vagina, stomach and esophagus. The specific immunophenotypic profile is helpful distin‐ guishing LCs, as they can express CD1a and langerin (CD207); in addition the detection of Birbeck granules, seen in both pathological and resting LC is a prominent feature [5]. LCH encompasses a spectrum of disease characterized by an uncontrolled proliferation of LC [5].
  • Histiocytic and Dendritic Cell Lesions

    Histiocytic and Dendritic Cell Lesions

    1/18/2019 Histiocytic and Dendritic Cell Lesions L. Jeffrey Medeiros, MD MD Anderson Cancer Center Outline 2016 classification of Histiocyte Society Langerhans cell histiocytosis / sarcoma Erdheim-Chester disease Juvenile xanthogranuloma Malignant histiocytosis Histiocytic sarcoma Interdigitating dendritic cell sarcoma Follicular dendritic cell sarcoma Rosai-Dorfman disease Hemophagocytic lymphohistiocytosis Writing Group of the Histiocyte Society 1 1/18/2019 Major Groups of Histiocytic Lesions Group Name L Langerhans-related C Cutaneous and mucocutaneous M Malignant histiocytosis R Rosai-Dorfman disease H Hemophagocytic lymphohistiocytosis Blood 127: 2672, 2016 L Group Langerhans cell histiocytosis Indeterminate cell tumor Erdheim-Chester disease S100 Normal Langerhans cells Langerhans Cell Histiocytosis “Old” Terminology Eosinophilic granuloma Single lesion of bone, LN, or skin Hand-Schuller-Christian disease Lytic lesions of skull, exopthalmos, and diabetes insipidus Sidney Farber Letterer-Siwe disease 1903-1973 Widespread visceral disease involving liver, spleen, bone marrow, and other sites Histiocytosis X Umbrella term proposed by Sidney Farber and then Lichtenstein in 1953 Louis Lichtenstein 1906-1977 2 1/18/2019 Langerhans Cell Histiocytosis Incidence and Disease Distribution Incidence Children: 5-9 x 106 Adults: 1 x 106 Sites of Disease Poor Prognosis Bones 80% Skin 30% Liver Pituitary gland 25% Spleen Liver 15% Bone marrow Spleen 15% Bone Marrow 15% High-risk organs Lymph nodes 10% CNS <5% Blood 127: 2672, 2016 N Engl J Med
  • Cutaneous Neonatal Langerhans Cell Histiocytosis

    Cutaneous Neonatal Langerhans Cell Histiocytosis

    F1000Research 2019, 8:13 Last updated: 18 SEP 2019 SYSTEMATIC REVIEW Cutaneous neonatal Langerhans cell histiocytosis: a systematic review of case reports [version 1; peer review: 1 approved with reservations, 1 not approved] Victoria Venning 1, Evelyn Yhao2,3, Elizabeth Huynh2,3, John W. Frew 2,4 1Prince of Wales Hospital, Randwick, Sydney, NSW, 2033, Australia 2University of New South Wales, Sydney, NSW, 2033, Australia 3Sydney Children's Hospital, Randwick, NSW, 2033, Australia 4Department of Dermatology, Liverpool Hospital, Sydney, Sydney, NSW, 2170, Australia First published: 03 Jan 2019, 8:13 ( Open Peer Review v1 https://doi.org/10.12688/f1000research.17664.1) Latest published: 03 Jan 2019, 8:13 ( https://doi.org/10.12688/f1000research.17664.1) Reviewer Status Abstract Invited Reviewers Background: Cutaneous langerhans cell histiocytosis (LCH) is a rare 1 2 disorder characterized by proliferation of cells with phenotypical characteristics of Langerhans cells. Although some cases spontaneously version 1 resolve, no consistent variables have been identified that predict which published report report cases will manifest with systemic disease later in childhood. 03 Jan 2019 Methods: A systematic review (Pubmed, Embase, Cochrane database and all published abstracts from 1946-2018) was undertaken to collate all reported cases of cutaneous LCH in the international literature. This study 1 Jolie Krooks , Florida Atlantic University, was registered with PROSPERO (CRD42016051952). Descriptive statistics Boca Raton, USA and correlation analyses were undertaken. Bias was analyzed according to Milen Minkov , Teaching Hospital of the GRADE criteria. Medical University of Vienna, Vienna, Austria Results: A total of 83 articles encompassing 128 cases of cutaneous LCH were identified.
  • Case Report Congenital Self-Healing Reticulohistiocytosis

    Case Report Congenital Self-Healing Reticulohistiocytosis

    Case Report Congenital Self-Healing Reticulohistiocytosis Presented with Multiple Hypopigmented Flat-Topped Papules: A Case Report and Review of Literatures Rawipan Uaratanawong MD*, Tanawatt Kootiratrakarn MD, PhD*, Poonnawis Sudtikoonaseth MD*, Atjima Issara MD**, Pinnaree Kattipathanapong MD* * Institute of Dermatology, Department of Medical Services Ministry of Public Health, Bangkok, Thailand ** Department of Pediatrics, Saraburi Hospital, Sabaruri, Thailand Congenital self-healing reticulohistiocytosis, also known as Hashimoto-Pritzker disease, is a single system Langerhans cell histiocytosis that typically presents in healthy newborns and spontaneously regresses. In the present report, we described a 2-month-old Thai female newborn with multiple hypopigmented flat-topped papules without any internal organ involvement including normal blood cell count, urinary examination, liver and renal functions, bone scan, chest X-ray, abdominal ultrasound, and bone marrow biopsy. The histopathology revealed typical findings of Langerhans cell histiocytosis, which was confirmed by the immunohistochemical staining CD1a and S100. Our patient’s lesions had spontaneously regressed within a few months, and no new lesion recurred after four months follow-up. Keywords: Congenital self-healing reticulohistiocytosis, Congenital self-healing Langerhans cell histiocytosis, Langerhans cell histiocytosis, Hashimoto-Pritzker disease, Birbeck granules J Med Assoc Thai 2014; 97 (9): 993-7 Full text. e-Journal: http://www.jmatonline.com Langerhans cell histiocytosis (LCH) is a multiple hypopigmented flat-topped papules, which clonal proliferative disease of Langerhans cell is a rare manifestation. involving multiple organs, including skin, which is the second most commonly involved organ by following Case Report the skeletal system(1). LCH has heterogeneous clinical A 2-month-old Thai female infant presented manifestations, ranging from benign single system with multiple hypopigmented flat-topped papules since disease to fatal multisystem disease(1-3).
  • Beyond Langerhans Cell Histiocytosis Related to Smoking

    Beyond Langerhans Cell Histiocytosis Related to Smoking

    Radiología. 2019;61(3):215---224 www.elsevier.es/rx RADIOLOGY THROUGH IMAGES Pulmonary histiocytosis: Beyond Langerhans cell ଝ histiocytosis related to smoking a b a c d b,e,∗ C. Trejo Gallego , J. Bueno , E. Cruces , E.B. Stelow , N. Mancheno˜ , L. Flors a Servicio de Radiología, Hospital Universitario Morales Meseguer, Universidad de Murcia, Murcia, Spain b Department of Radiology and Medical Imaging, University of Virginia Health System, Charlottesville, VA, United States c Department of Pathology, University of Virginia Health System, Charlottesville, VA, United States d Servicio de Anatomía Patológica, Hospital Universitario y Politécnico la Fe, Valencia, Spain e Department of Radiology, One Hospital Dr, University of Missouri Health System, Columbia, MO, United States Received 21 October 2017; accepted 16 November 2018 Available online 24 January 2019 KEYWORDS Abstract Langerhans cells Objective: To review the imaging findings for the different types of pulmonary histiocy- histiocytosis; tosis. In particular, in addition to the well-known pulmonary Langerhans cell histiocytosis Erdheim---Chester related to smoking and its possible appearance in nonsmokers, we focus on non-Langerhans disease; cell histiocytosis in Rosai---Dorfman disease and Erdheim---Chester disease. We also review the Sinus histiocytosis; etiopathogenesis, histology, clinical presentation, and treatment of pulmonary histiocytosis. Computed Conclusion: Langerhans cell histiocytosis, Rosai---Dorfman disease, and Erdheim---Chester dis- tomography ease are idiopathic
  • Histiocytic Sarcoma in a 3-Year-Old Male: a Case Report

    Histiocytic Sarcoma in a 3-Year-Old Male: a Case Report

    Histiocytic Sarcoma in a 3-Year-Old Male: A Case Report Samuel Buonocore, MD*; Alfredo L. Valente, MD‡; Daniel Nightingale, MD‡; Jeffrey Bogart, MD§; and Abdul-Kader Souid, MD, PhD* ABSTRACT. We describe a pediatric patient with his- CASE REPORT tiocytic sarcoma involving the T6 and L4 vertebral bodies This previously healthy 3-year-old boy experienced intermit- and the lungs. His tumor progressed during chemother- tent low back pain radiating to the right inguinal region for ϳ2 apy designed for Langerhans’ cell histiocytosis and sar- months. His symptoms initially responded to ibuprofen. The pain coma. High-dose radiation, on the other hand, was intensity increased over a 2-week period, and he refused to walk. effective. Pediatrics 2005;116:e322–e325. URL: www. Review of systems was significant for pain with urination. With the exception of being unable to stand, his physical examination pediatrics.org/cgi/doi/10.1542/peds.2005-0026; sarcoma, was unremarkable. The laboratory tests showed normal blood histiocytes, Langerhans’ cell histiocytosis, histiocytic sar- counts and normal liver and renal function. An MRI showed coma. collapse of the T6 and L4 vertebral bodies and a soft tissue mass in the anterior epidural space at the level of L4 (Fig 1 A and B). The chest and abdominal computed tomography (CT) scans were nor- ABBREVIATIONS. LCH, Langerhans’ cell histiocytosis; CT, com- mal. Bone marrow aspiration revealed no malignant infiltration. A puted tomography; 2CdA, 2-chlorodeoxyadenosine. technetium bone scan showed increased uptake limited to the T6 and L4 regions. CT-scan–guided needle biopsy of the L4 mass revealed infiltrative proliferation of the bone and soft tissue by istiocytic and dendritic neoplasms are rare, sheets and clusters of large ovoid cells with abundant eosinophilic cytoplasm (Fig 2A).
  • Langerhans Cell Sarcoma with an Aberrant Cytoplasmic CD3 Expression Zhaodong Xu1*, Ruth Padmore1, Carolyn Faught2, Lisa Duffet2 and Bruce F Burns3

    Langerhans Cell Sarcoma with an Aberrant Cytoplasmic CD3 Expression Zhaodong Xu1*, Ruth Padmore1, Carolyn Faught2, Lisa Duffet2 and Bruce F Burns3

    Xu et al. Diagnostic Pathology 2012, 7:128 http://www.diagnosticpathology.org/content/7/1/128 CASE REPORT Open Access Langerhans cell sarcoma with an aberrant cytoplasmic CD3 expression Zhaodong Xu1*, Ruth Padmore1, Carolyn Faught2, Lisa Duffet2 and Bruce F Burns3 Abstract: Langerhans cell sarcoma is a rare and aggressive high grade hematopoietic neoplasm with a dismal prognosis. It has a unique morphological and immunotypic profile with a CD1a/ langerin/S100 + phenotype. T cell lineage markers except for CD4 in Langerhans cell sarcoma have not been documented previously. We report a case of 86 year-old male of Caucasian descent who presented with an enlarging right neck mass over 2 months with an underlying unknown cause of anemia. Computed tomography scan of the neck, chest and abdomen revealed generalized lymphadenopathy and mild splenomegaly suspicious for lymphoma. Diagnostic core biopsy performed on right neck mass revealed a possible T cell lymphoma with expression of T cell lineage specific marker CD3 but conclusive diagnosis could not be made due to insufficient core biopsy sample. Further excisional biopsy performed on a left inguinal node showed a hematopoietic neoplasm with features of Langerhans cell sarcoma with a focal cytoplasmic CD3 expression in 30-40% of the tumor cells. PCR for T cell receptor (TCR) gene rearrangement failed to demonstrate a clonal gene rearrangement in the tumor cells arguing against a T cell lineage transdifferentiation, suggesting an aberrant CD3 expression. To the best of our knowledge, this case represents the first report of Langerhans cell sarcoma with an aberrant cytoplasmic CD3 expression. Virtual slides: http://www.diagnosticpathology.diagnomx.eu/vs/2065486371761991 Keywords: Langerhans cell sarcoma (LCS), Langerhans cell histiocytosis (LCH), CD3, Aberrant expression, Lineage plasticity, Transdifferentiation Background langerin/S100+ [2,3] but without B- and T-cell lineage According to the most recent WHO Classification of markers except for CD4 [4].
  • Congenital Self-Healing Reticulohistiocytosis: an Underreported Entity

    Congenital Self-Healing Reticulohistiocytosis: an Underreported Entity

    Congenital Self-healing Reticulohistiocytosis: An Underreported Entity Michael Kassardjian, DO; Mayha Patel, DO; Paul Shitabata, MD; David Horowitz, DO PRACTICE POINTS • Langerhans cell histiocytosis (LCH) is believed to occur in 1:200,000 children and tends to be underdiagnosed, as some patients may have no symptoms while others have symptoms that are misdiagnosed as other conditions. • Patients with L CH usually should have long-term follow-up care to detect progression or complications of the disease or treatment. copy not Langerhans cell histiocytosis (LCH), also known angerhans cell histiocytosis (LCH), also as histiocytosis X, is a group of rare disorders known as histiocytosis X, is a general term that characterized by the continuous replication of describes a group of rare disorders characterized L 1 a particular white blood cell called LangerhansDo by the proliferation of Langerhans cells. Central cells. These cells are derived from the bone mar- to immune surveillance and the elimination of for- row and are found in the epidermis, playing a large eign substances from the body, Langerhans cells are role in immune surveillance and the elimination of derived from bone marrow progenitor cells and found foreign substances from the body. Additionally, in the epidermis but are capable of migrating from Langerhans cells are capable of migrating from the the skin to the lymph nodes. In LCH, these cells skin to lymph nodes, and in LCH, these cells begin congregate on bone tissue, particularly in the head to congregate on the bone, particularly in the head and neck region, causing a multitude of problems.2 and neck region, causingCUTIS a multitude of problems.
  • Congenital Self-Healing Reticulohistiocytosis in a Newborn

    Congenital Self-Healing Reticulohistiocytosis in a Newborn

    Rizzoli et al. Italian Journal of Pediatrics (2021) 47:135 https://doi.org/10.1186/s13052-021-01082-9 CASE REPORT Open Access Congenital self-healing reticulohistiocytosis in a newborn: unusual oral and cutaneous manifestations Alessandra Rizzoli1, Simona Giancristoforo2* , Cristina Haass1, Rita De Vito3, Stefania Gaspari4, Eleonora Scapillati1, Andrea Diociaiuti2 and May El Hachem2 Abstract Background: Congenital self-healing reticulohistiocytosis (CSHRH), also called Hashimoto-Pritzker disease, is a rare and benign variant of Langerhans cell histiocytosis, characterized by cutaneous lesions without extracutaneous involvement. Case presentation: We present a case of CSHRH with diffuse skin lesions and erosions in the oral mucosa, present since birth and lasting for 2 months, and we perform a review of the literature on Pubmed in the last 10 years. Conclusions: Our case confirm that lesions on oral mucosa, actually underestimated, may be present in patients with CSHRH. Patients affected by CSHRH require a close follow-up until the first years of life, due to the unpredictable course of Langerhans cell histiocytosis, in order to avoid missing diagnosis of more aggressive types of this disorder. Keywords: Congenital self-healing reticulohistiocytosis, CSHRH, Hashimoto-Pritzker disease, Histiocytosis, Newborn Background We report a case of a newborn with cutaneous and Congenital self-healing reticulohistiocytosis (CSHRH), oral mucosa involvement. In addition, a review of the lit- also known as Hashimoto-Pritzker disease, is a rare be- erature was perfomed on Pubmed using the following nign type of Langerhans cell histiocytosis (LCH) de- mesh terms: “Congenital self-healing reticulohistiocyto- scribed in 1973 [1, 2]. sis”, “congenital self-healing Langerhans cell histiocyto- CSHRH manifests generally at birth or during the neo- sis” and “Hashimoto-Pritzker disease”.
  • Long-Lasting Christmas Tree Rash" in an Adolescent: Isotopic Response

    Long-Lasting Christmas Tree Rash" in an Adolescent: Isotopic Response

    Acta Derm Venereol 2002; 82: 288–291 CLINICAL REPORT Long-lasting ``Christmas Tree Rash’’ in an Adolescent: Isotopic Response of Indeterminate Cell Histiocytosis in Pityriasis Rosea? ANDREAS WOLLENBERG, WALTER H. C. BURGDORF, MARTIN SCHALLER and CHRISTIAN SANDER Department of Dermatology and Allergy, Ludwig-Maximilian-University, Munich, Germany A 13-year-old girl developed a non-pruritic pityriasis rosea, followed by other, smaller red macules on her rosea-like rash, which did not respond to topical cortico- trunk (Fig. 1). After 6 months, all individual lesions steroids or UV therapy but persisted for 2 years. The had persisted, grew slowly in size and became in part lymphohistiocytic in ltrate in the upper dermis showed con uent, but neither itched nor caused any distress. A mononuclear cells immunoreactive with S100, CD68, biopsy showed parakeratosis, extravascular and intraepi- factor XIIIa and CD1a. Electron microscopic evaluation dermal erythrocytes and spongiosis, more suggestive of of these cells demonstrated lamellated dense bodies but pityriasis lichenoides but compatible with pityriasis no Birbeck granules, lipid vacuoles or cholesterol crystals. rosea. Over the following 18 months, the lesions Two diagnoses were made: a primarily clinical diagnosis increased further in number and size. Topical cortico- of generalized eruptive histiocytosis and a more cell- steroids and balneophototherapy were ineVective. biology-based diagnosis of an indeterminate cell histi- At 15 years of age, the patient was admitted to ocytosis. Three years later, the lesions are showing spon- hospital with about 500, round to oval, con uent, taneous resolution, with loss of erythema and attening. in ltrated, reddish-brown macules and plaques ranging Our patient’s indeterminate cells ful l Rowden’s clas- in size from 5 to 30 mm in a Christmas tree pattern on sical de nition (dendritically shaped epidermal non- the trunk, upper arms and legs (Fig.
  • Histiocytic Sarcoma Originating in the Lung in a 16-Year-Old Male

    Histiocytic Sarcoma Originating in the Lung in a 16-Year-Old Male

    J Clin Exp Hematop Vol. 55, No. 1, June 2015 Case Study Histiocytic Sarcoma Originating in the Lung in a 16-Year-Old Male Sakura Tomita,1) Go Ogura,1) Chie Inomoto,1) Hiroshi Kajiwara,1) Ryota Masuda,2) Masayuki Iwazaki,2) Masaru Kojima,3) and Naoya Nakamura1) We report a 16-year-old male with histiocytic sarcoma (HS) originating in the lung. Partial resection of the lung was performed for a 3-cm mass with a clear boundary detected in the right inferior pulmonary lobe on a health checkup. Histologically, the tumor infiltrated into the surrounding tissue, and was comprised of spindle cells, mainly, and foam cells accompanied by mild nuclear atypia. The tumor cells were immunohistochemically positive for CD68 and CD163, indicating histiocytic lineage and the MIB-1-positive rate was low. Spindle cell morphology of HS is quite rare and only 3 cases of pulmonary HS have previously been reported. 〔J Clin Exp Hematop 55(1) : 45-49, 2015〕 Keywords: histiocytic sarcoma, lung, spindle cells, foamy cells spindle cells, mainly, and foam cells. INTRODUCTION Histiocytic sarcoma (HS) is a malignant hematopoietic CASE REPORT tumor consisting of cells similar to mature histiocytes.1-4 It is extremely rare and the age of onset widely ranges from 6 The patient was a 16-year-old male who exhibited an months to 89 years, with no gender difference; the incidence abnormal shadow detected on a health checkup. He had no is high in adults, showing a large peak at 50-69 years, but also particular past or familial medical history.