Cutaneous neurofibromas: Current clinical and pathologic issues

Nicolas Ortonne; Pierre Wolkenstein; Jaishri O Blakeley; Bruce Korf; Scott R Plotkin; Vincent M Riccardi; Douglas C Miller; Susan Huson; Juha Peltonen; Andrew Rosenberg; Steven L Carroll; Sharad K Verma; Victor Mautner; Meena Upadhyaya; Anat Stemmer-Rachamimov

doi:10.1212/WNL.0000000000005792

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Cutaneous neurofibromas: Current clinical and pathologic issues

Journal article

Open access

Peer reviewed

Cutaneous neurofibromas: Current clinical and pathologic issues

Nicolas Ortonne, Pierre Wolkenstein, Jaishri O Blakeley, Bruce Korf, Scott R Plotkin, Vincent M Riccardi, Douglas C Miller, Susan Huson, Juha Peltonen, Andrew Rosenberg, …

Neurology, Vol.91(2 Suppl 1), pp.S5-S13

2018-07-10

DOI: https://doi.org/10.1212/WNL.0000000000005792

PMID: 29987130

Abstract

Humans

Neurofibroma - classification

Neurofibroma - complications

Neurofibroma - diagnosis

Neurofibroma - pathology

Neurofibromatosis 1 - complications

Neurofibromatosis 1 - pathology

Quality of Life

Skin Neoplasms - classification

Skin Neoplasms - complications

Skin Neoplasms - diagnosis

Skin Neoplasms - pathology

To present the current terminology and natural history of neurofibromatosis 1 (NF1) cutaneous neurofibromas (cNF). NF1 experts from various research and clinical backgrounds reviewed the terms currently in use for cNF as well as the clinical, histologic, and radiographic features of these tumors using published and unpublished data. Neurofibromas develop within nerves, soft tissue, and skin. The primary distinction between cNF and other neurofibromas is that cNF are limited to the skin whereas other neurofibromas may involve the skin, but are not limited to the skin. There are important cellular, molecular, histologic, and clinical features of cNF. Each of these factors is discussed in consideration of a clinicopathologic framework for cNF. The development of effective therapies for cNF requires formulation of diagnostic criteria that encompass the clinical and histologic features of these tumors. However, there are several areas of overlap between cNF and other neurofibromas that make distinctions between cutaneous and other neurofibromas more difficult, requiring careful deliberation with input across the multiple disciplines that encounter these tumors and ultimately, prospective validation. The ultimate goal of this work is to facilitate accurate diagnosis and meaningful therapeutics for cNF.

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Collaboration types: Domestic collaboration; International collaboration
Citation topics: 1 Clinical & Life Sciences; 1.118 Soft Tissue, Bone & Nerve Cancers; 1.118.1130 Schwannoma
Web Of Science research areas: Clinical Neurology
ESI research areas: Neuroscience & Behavior

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Title: Cutaneous neurofibromas: Current clinical and pathologic issues
Creators: Nicolas Ortonne - From the Departments of Pathology (N.O.) and Dermatology (P.W.), French Referral Center for Neurofibromatoses, Henri-Mondor Hospital, AP-HP, University Paris Est Créteil, France; Department of Neurology (J.O.B., S.K.V.), Johns Hopkins University School of Medicine, The Neurofibromatosis Therapuetic Acceleration Program, Baltimore, MD; University of Alabama at Birmingham (B.K.); Cancer Center and Department of Neurology (S.R.P.) and Department of Pathology, Division of Neuropathology (A.S.-R.), Massachusetts General Hospital, Boston; The Neurofibromatosis Institute (V.M.R.), La Crescenta, CA; Department of Pathology & Anatomical Sciences (D.C.M.), University of Missouri School of Medicine, Columbia; Manchester Centre for Genomic Medicine (S.H.), Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, UK; Institute of Biomedicine (J.P.), University of Turku, Finland; Department of Pathology and Laboratory Medicine (A.R.), Jackson Memorial Hospital/University of Miami Miller School of Medicine, FL; Department of Pathology and Laboratory Medicine (S.L.C.), Medical University of South Carolina, Charleston; Clinics and Polyclinics of Neurology (V.M.), University Hospital Hamburg-Eppendorf, Hamburg, Germany; and Division of Cancer and Genetics (M.U.), Institute of Medical Genetics, Cardiff University, UK
Pierre Wolkenstein - From the Departments of Pathology (N.O.) and Dermatology (P.W.), French Referral Center for Neurofibromatoses, Henri-Mondor Hospital, AP-HP, University Paris Est Créteil, France; Department of Neurology (J.O.B., S.K.V.), Johns Hopkins University School of Medicine, The Neurofibromatosis Therapuetic Acceleration Program, Baltimore, MD; University of Alabama at Birmingham (B.K.); Cancer Center and Department of Neurology (S.R.P.) and Department of Pathology, Division of Neuropathology (A.S.-R.), Massachusetts General Hospital, Boston; The Neurofibromatosis Institute (V.M.R.), La Crescenta, CA; Department of Pathology & Anatomical Sciences (D.C.M.), University of Missouri School of Medicine, Columbia; Manchester Centre for Genomic Medicine (S.H.), Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, UK; Institute of Biomedicine (J.P.), University of Turku, Finland; Department of Pathology and Laboratory Medicine (A.R.), Jackson Memorial Hospital/University of Miami Miller School of Medicine, FL; Department of Pathology and Laboratory Medicine (S.L.C.), Medical University of South Carolina, Charleston; Clinics and Polyclinics of Neurology (V.M.), University Hospital Hamburg-Eppendorf, Hamburg, Germany; and Division of Cancer and Genetics (M.U.), Institute of Medical Genetics, Cardiff University, UK. pierre.wolkenstein@aphp.fr
Jaishri O Blakeley - From the Departments of Pathology (N.O.) and Dermatology (P.W.), French Referral Center for Neurofibromatoses, Henri-Mondor Hospital, AP-HP, University Paris Est Créteil, France; Department of Neurology (J.O.B., S.K.V.), Johns Hopkins University School of Medicine, The Neurofibromatosis Therapuetic Acceleration Program, Baltimore, MD; University of Alabama at Birmingham (B.K.); Cancer Center and Department of Neurology (S.R.P.) and Department of Pathology, Division of Neuropathology (A.S.-R.), Massachusetts General Hospital, Boston; The Neurofibromatosis Institute (V.M.R.), La Crescenta, CA; Department of Pathology & Anatomical Sciences (D.C.M.), University of Missouri School of Medicine, Columbia; Manchester Centre for Genomic Medicine (S.H.), Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, UK; Institute of Biomedicine (J.P.), University of Turku, Finland; Department of Pathology and Laboratory Medicine (A.R.), Jackson Memorial Hospital/University of Miami Miller School of Medicine, FL; Department of Pathology and Laboratory Medicine (S.L.C.), Medical University of South Carolina, Charleston; Clinics and Polyclinics of Neurology (V.M.), University Hospital Hamburg-Eppendorf, Hamburg, Germany; and Division of Cancer and Genetics (M.U.), Institute of Medical Genetics, Cardiff University, UK
Bruce Korf - From the Departments of Pathology (N.O.) and Dermatology (P.W.), French Referral Center for Neurofibromatoses, Henri-Mondor Hospital, AP-HP, University Paris Est Créteil, France; Department of Neurology (J.O.B., S.K.V.), Johns Hopkins University School of Medicine, The Neurofibromatosis Therapuetic Acceleration Program, Baltimore, MD; University of Alabama at Birmingham (B.K.); Cancer Center and Department of Neurology (S.R.P.) and Department of Pathology, Division of Neuropathology (A.S.-R.), Massachusetts General Hospital, Boston; The Neurofibromatosis Institute (V.M.R.), La Crescenta, CA; Department of Pathology & Anatomical Sciences (D.C.M.), University of Missouri School of Medicine, Columbia; Manchester Centre for Genomic Medicine (S.H.), Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, UK; Institute of Biomedicine (J.P.), University of Turku, Finland; Department of Pathology and Laboratory Medicine (A.R.), Jackson Memorial Hospital/University of Miami Miller School of Medicine, FL; Department of Pathology and Laboratory Medicine (S.L.C.), Medical University of South Carolina, Charleston; Clinics and Polyclinics of Neurology (V.M.), University Hospital Hamburg-Eppendorf, Hamburg, Germany; and Division of Cancer and Genetics (M.U.), Institute of Medical Genetics, Cardiff University, UK
Scott R Plotkin - From the Departments of Pathology (N.O.) and Dermatology (P.W.), French Referral Center for Neurofibromatoses, Henri-Mondor Hospital, AP-HP, University Paris Est Créteil, France; Department of Neurology (J.O.B., S.K.V.), Johns Hopkins University School of Medicine, The Neurofibromatosis Therapuetic Acceleration Program, Baltimore, MD; University of Alabama at Birmingham (B.K.); Cancer Center and Department of Neurology (S.R.P.) and Department of Pathology, Division of Neuropathology (A.S.-R.), Massachusetts General Hospital, Boston; The Neurofibromatosis Institute (V.M.R.), La Crescenta, CA; Department of Pathology & Anatomical Sciences (D.C.M.), University of Missouri School of Medicine, Columbia; Manchester Centre for Genomic Medicine (S.H.), Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, UK; Institute of Biomedicine (J.P.), University of Turku, Finland; Department of Pathology and Laboratory Medicine (A.R.), Jackson Memorial Hospital/University of Miami Miller School of Medicine, FL; Department of Pathology and Laboratory Medicine (S.L.C.), Medical University of South Carolina, Charleston; Clinics and Polyclinics of Neurology (V.M.), University Hospital Hamburg-Eppendorf, Hamburg, Germany; and Division of Cancer and Genetics (M.U.), Institute of Medical Genetics, Cardiff University, UK
Vincent M Riccardi - From the Departments of Pathology (N.O.) and Dermatology (P.W.), French Referral Center for Neurofibromatoses, Henri-Mondor Hospital, AP-HP, University Paris Est Créteil, France; Department of Neurology (J.O.B., S.K.V.), Johns Hopkins University School of Medicine, The Neurofibromatosis Therapuetic Acceleration Program, Baltimore, MD; University of Alabama at Birmingham (B.K.); Cancer Center and Department of Neurology (S.R.P.) and Department of Pathology, Division of Neuropathology (A.S.-R.), Massachusetts General Hospital, Boston; The Neurofibromatosis Institute (V.M.R.), La Crescenta, CA; Department of Pathology & Anatomical Sciences (D.C.M.), University of Missouri School of Medicine, Columbia; Manchester Centre for Genomic Medicine (S.H.), Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, UK; Institute of Biomedicine (J.P.), University of Turku, Finland; Department of Pathology and Laboratory Medicine (A.R.), Jackson Memorial Hospital/University of Miami Miller School of Medicine, FL; Department of Pathology and Laboratory Medicine (S.L.C.), Medical University of South Carolina, Charleston; Clinics and Polyclinics of Neurology (V.M.), University Hospital Hamburg-Eppendorf, Hamburg, Germany; and Division of Cancer and Genetics (M.U.), Institute of Medical Genetics, Cardiff University, UK
Douglas C Miller - From the Departments of Pathology (N.O.) and Dermatology (P.W.), French Referral Center for Neurofibromatoses, Henri-Mondor Hospital, AP-HP, University Paris Est Créteil, France; Department of Neurology (J.O.B., S.K.V.), Johns Hopkins University School of Medicine, The Neurofibromatosis Therapuetic Acceleration Program, Baltimore, MD; University of Alabama at Birmingham (B.K.); Cancer Center and Department of Neurology (S.R.P.) and Department of Pathology, Division of Neuropathology (A.S.-R.), Massachusetts General Hospital, Boston; The Neurofibromatosis Institute (V.M.R.), La Crescenta, CA; Department of Pathology & Anatomical Sciences (D.C.M.), University of Missouri School of Medicine, Columbia; Manchester Centre for Genomic Medicine (S.H.), Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, UK; Institute of Biomedicine (J.P.), University of Turku, Finland; Department of Pathology and Laboratory Medicine (A.R.), Jackson Memorial Hospital/University of Miami Miller School of Medicine, FL; Department of Pathology and Laboratory Medicine (S.L.C.), Medical University of South Carolina, Charleston; Clinics and Polyclinics of Neurology (V.M.), University Hospital Hamburg-Eppendorf, Hamburg, Germany; and Division of Cancer and Genetics (M.U.), Institute of Medical Genetics, Cardiff University, UK
Susan Huson - From the Departments of Pathology (N.O.) and Dermatology (P.W.), French Referral Center for Neurofibromatoses, Henri-Mondor Hospital, AP-HP, University Paris Est Créteil, France; Department of Neurology (J.O.B., S.K.V.), Johns Hopkins University School of Medicine, The Neurofibromatosis Therapuetic Acceleration Program, Baltimore, MD; University of Alabama at Birmingham (B.K.); Cancer Center and Department of Neurology (S.R.P.) and Department of Pathology, Division of Neuropathology (A.S.-R.), Massachusetts General Hospital, Boston; The Neurofibromatosis Institute (V.M.R.), La Crescenta, CA; Department of Pathology & Anatomical Sciences (D.C.M.), University of Missouri School of Medicine, Columbia; Manchester Centre for Genomic Medicine (S.H.), Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, UK; Institute of Biomedicine (J.P.), University of Turku, Finland; Department of Pathology and Laboratory Medicine (A.R.), Jackson Memorial Hospital/University of Miami Miller School of Medicine, FL; Department of Pathology and Laboratory Medicine (S.L.C.), Medical University of South Carolina, Charleston; Clinics and Polyclinics of Neurology (V.M.), University Hospital Hamburg-Eppendorf, Hamburg, Germany; and Division of Cancer and Genetics (M.U.), Institute of Medical Genetics, Cardiff University, UK
Juha Peltonen - From the Departments of Pathology (N.O.) and Dermatology (P.W.), French Referral Center for Neurofibromatoses, Henri-Mondor Hospital, AP-HP, University Paris Est Créteil, France; Department of Neurology (J.O.B., S.K.V.), Johns Hopkins University School of Medicine, The Neurofibromatosis Therapuetic Acceleration Program, Baltimore, MD; University of Alabama at Birmingham (B.K.); Cancer Center and Department of Neurology (S.R.P.) and Department of Pathology, Division of Neuropathology (A.S.-R.), Massachusetts General Hospital, Boston; The Neurofibromatosis Institute (V.M.R.), La Crescenta, CA; Department of Pathology & Anatomical Sciences (D.C.M.), University of Missouri School of Medicine, Columbia; Manchester Centre for Genomic Medicine (S.H.), Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, UK; Institute of Biomedicine (J.P.), University of Turku, Finland; Department of Pathology and Laboratory Medicine (A.R.), Jackson Memorial Hospital/University of Miami Miller School of Medicine, FL; Department of Pathology and Laboratory Medicine (S.L.C.), Medical University of South Carolina, Charleston; Clinics and Polyclinics of Neurology (V.M.), University Hospital Hamburg-Eppendorf, Hamburg, Germany; and Division of Cancer and Genetics (M.U.), Institute of Medical Genetics, Cardiff University, UK
Andrew Rosenberg - From the Departments of Pathology (N.O.) and Dermatology (P.W.), French Referral Center for Neurofibromatoses, Henri-Mondor Hospital, AP-HP, University Paris Est Créteil, France; Department of Neurology (J.O.B., S.K.V.), Johns Hopkins University School of Medicine, The Neurofibromatosis Therapuetic Acceleration Program, Baltimore, MD; University of Alabama at Birmingham (B.K.); Cancer Center and Department of Neurology (S.R.P.) and Department of Pathology, Division of Neuropathology (A.S.-R.), Massachusetts General Hospital, Boston; The Neurofibromatosis Institute (V.M.R.), La Crescenta, CA; Department of Pathology & Anatomical Sciences (D.C.M.), University of Missouri School of Medicine, Columbia; Manchester Centre for Genomic Medicine (S.H.), Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, UK; Institute of Biomedicine (J.P.), University of Turku, Finland; Department of Pathology and Laboratory Medicine (A.R.), Jackson Memorial Hospital/University of Miami Miller School of Medicine, FL; Department of Pathology and Laboratory Medicine (S.L.C.), Medical University of South Carolina, Charleston; Clinics and Polyclinics of Neurology (V.M.), University Hospital Hamburg-Eppendorf, Hamburg, Germany; and Division of Cancer and Genetics (M.U.), Institute of Medical Genetics, Cardiff University, UK
Steven L Carroll - From the Departments of Pathology (N.O.) and Dermatology (P.W.), French Referral Center for Neurofibromatoses, Henri-Mondor Hospital, AP-HP, University Paris Est Créteil, France; Department of Neurology (J.O.B., S.K.V.), Johns Hopkins University School of Medicine, The Neurofibromatosis Therapuetic Acceleration Program, Baltimore, MD; University of Alabama at Birmingham (B.K.); Cancer Center and Department of Neurology (S.R.P.) and Department of Pathology, Division of Neuropathology (A.S.-R.), Massachusetts General Hospital, Boston; The Neurofibromatosis Institute (V.M.R.), La Crescenta, CA; Department of Pathology & Anatomical Sciences (D.C.M.), University of Missouri School of Medicine, Columbia; Manchester Centre for Genomic Medicine (S.H.), Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, UK; Institute of Biomedicine (J.P.), University of Turku, Finland; Department of Pathology and Laboratory Medicine (A.R.), Jackson Memorial Hospital/University of Miami Miller School of Medicine, FL; Department of Pathology and Laboratory Medicine (S.L.C.), Medical University of South Carolina, Charleston; Clinics and Polyclinics of Neurology (V.M.), University Hospital Hamburg-Eppendorf, Hamburg, Germany; and Division of Cancer and Genetics (M.U.), Institute of Medical Genetics, Cardiff University, UK
Sharad K Verma - From the Departments of Pathology (N.O.) and Dermatology (P.W.), French Referral Center for Neurofibromatoses, Henri-Mondor Hospital, AP-HP, University Paris Est Créteil, France; Department of Neurology (J.O.B., S.K.V.), Johns Hopkins University School of Medicine, The Neurofibromatosis Therapuetic Acceleration Program, Baltimore, MD; University of Alabama at Birmingham (B.K.); Cancer Center and Department of Neurology (S.R.P.) and Department of Pathology, Division of Neuropathology (A.S.-R.), Massachusetts General Hospital, Boston; The Neurofibromatosis Institute (V.M.R.), La Crescenta, CA; Department of Pathology & Anatomical Sciences (D.C.M.), University of Missouri School of Medicine, Columbia; Manchester Centre for Genomic Medicine (S.H.), Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, UK; Institute of Biomedicine (J.P.), University of Turku, Finland; Department of Pathology and Laboratory Medicine (A.R.), Jackson Memorial Hospital/University of Miami Miller School of Medicine, FL; Department of Pathology and Laboratory Medicine (S.L.C.), Medical University of South Carolina, Charleston; Clinics and Polyclinics of Neurology (V.M.), University Hospital Hamburg-Eppendorf, Hamburg, Germany; and Division of Cancer and Genetics (M.U.), Institute of Medical Genetics, Cardiff University, UK
Victor Mautner - From the Departments of Pathology (N.O.) and Dermatology (P.W.), French Referral Center for Neurofibromatoses, Henri-Mondor Hospital, AP-HP, University Paris Est Créteil, France; Department of Neurology (J.O.B., S.K.V.), Johns Hopkins University School of Medicine, The Neurofibromatosis Therapuetic Acceleration Program, Baltimore, MD; University of Alabama at Birmingham (B.K.); Cancer Center and Department of Neurology (S.R.P.) and Department of Pathology, Division of Neuropathology (A.S.-R.), Massachusetts General Hospital, Boston; The Neurofibromatosis Institute (V.M.R.), La Crescenta, CA; Department of Pathology & Anatomical Sciences (D.C.M.), University of Missouri School of Medicine, Columbia; Manchester Centre for Genomic Medicine (S.H.), Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, UK; Institute of Biomedicine (J.P.), University of Turku, Finland; Department of Pathology and Laboratory Medicine (A.R.), Jackson Memorial Hospital/University of Miami Miller School of Medicine, FL; Department of Pathology and Laboratory Medicine (S.L.C.), Medical University of South Carolina, Charleston; Clinics and Polyclinics of Neurology (V.M.), University Hospital Hamburg-Eppendorf, Hamburg, Germany; and Division of Cancer and Genetics (M.U.), Institute of Medical Genetics, Cardiff University, UK
Meena Upadhyaya - From the Departments of Pathology (N.O.) and Dermatology (P.W.), French Referral Center for Neurofibromatoses, Henri-Mondor Hospital, AP-HP, University Paris Est Créteil, France; Department of Neurology (J.O.B., S.K.V.), Johns Hopkins University School of Medicine, The Neurofibromatosis Therapuetic Acceleration Program, Baltimore, MD; University of Alabama at Birmingham (B.K.); Cancer Center and Department of Neurology (S.R.P.) and Department of Pathology, Division of Neuropathology (A.S.-R.), Massachusetts General Hospital, Boston; The Neurofibromatosis Institute (V.M.R.), La Crescenta, CA; Department of Pathology & Anatomical Sciences (D.C.M.), University of Missouri School of Medicine, Columbia; Manchester Centre for Genomic Medicine (S.H.), Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, UK; Institute of Biomedicine (J.P.), University of Turku, Finland; Department of Pathology and Laboratory Medicine (A.R.), Jackson Memorial Hospital/University of Miami Miller School of Medicine, FL; Department of Pathology and Laboratory Medicine (S.L.C.), Medical University of South Carolina, Charleston; Clinics and Polyclinics of Neurology (V.M.), University Hospital Hamburg-Eppendorf, Hamburg, Germany; and Division of Cancer and Genetics (M.U.), Institute of Medical Genetics, Cardiff University, UK
Anat Stemmer-Rachamimov - From the Departments of Pathology (N.O.) and Dermatology (P.W.), French Referral Center for Neurofibromatoses, Henri-Mondor Hospital, AP-HP, University Paris Est Créteil, France; Department of Neurology (J.O.B., S.K.V.), Johns Hopkins University School of Medicine, The Neurofibromatosis Therapuetic Acceleration Program, Baltimore, MD; University of Alabama at Birmingham (B.K.); Cancer Center and Department of Neurology (S.R.P.) and Department of Pathology, Division of Neuropathology (A.S.-R.), Massachusetts General Hospital, Boston; The Neurofibromatosis Institute (V.M.R.), La Crescenta, CA; Department of Pathology & Anatomical Sciences (D.C.M.), University of Missouri School of Medicine, Columbia; Manchester Centre for Genomic Medicine (S.H.), Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, UK; Institute of Biomedicine (J.P.), University of Turku, Finland; Department of Pathology and Laboratory Medicine (A.R.), Jackson Memorial Hospital/University of Miami Miller School of Medicine, FL; Department of Pathology and Laboratory Medicine (S.L.C.), Medical University of South Carolina, Charleston; Clinics and Polyclinics of Neurology (V.M.), University Hospital Hamburg-Eppendorf, Hamburg, Germany; and Division of Cancer and Genetics (M.U.), Institute of Medical Genetics, Cardiff University, UK
Publication Details: Neurology, Vol.91(2 Suppl 1), pp.S5-S13
Academic Unit: Miller School of Medicine; UMMG Department of Pathology
Language: English
Resource Type: Journal article
PMID: 29987130
Record Identifier: 991031613290502976