Biomaterial Database

Neuromuscular Choristoma: Report of Five Cases With CTNNB1 Sequencing. 2021

Isabel Cristina Soares Brandao, and Francineide Sadala de Souza, and Ricardo de Amoreira Gepp, and Bernardo Jose Alves Ferreira Martins, and Marcio de Mendonca Cardoso, and Claudio Sollaci, and Isabela Werneck da Cunha, and Ricardo Karam Kalil

From the Department of Surgical Pathology, Sarah Network of Rehabilitation Hospitals, Brasília, DF, Brazil (ICSB, FSdS); Department of Neurosurgery, Sarah Network of Rehabilitation Hospitals, Brasília, DF, Brazil (RdAG, MdMC); Department of Imaging, Sarah Network of Rehabilitation Hospitals, Brasília, DF, Brazil (BJAFM); Department of Orthopedics, Sarah Network of Rehabilitation Hospitals, Brasília, DF, Brazil (CS); Department of Pathology, AC Camargo Cancer Center Rua Tamandaré, São Paulo, SP, Brazil (IWdC, RKK).

Neuromuscular choristoma (NMC) are lesions of the peripheral nervous system characterized by an admixture of skeletal muscle fibers and nerves fascicles that are frequently associated with desmoid fibromatosis (DF). Mutations in CTNNB1, the gene for β-catenin protein, are common in DF and related to its pathogenesis. They are restricted to exon 3, with 3 point mutations: T41A, S45F, and S45P. To understand the pathogenesis of NMC, we tested CTNNB1 status in 5 cases of NMC whether or not they were associated with DF. The screening of mutations in CTNNB1 gene was based on amplicon deep sequencing using the ION Proton platform. Three patients had the S45F mutation; in 2 the mutation was common to both lesions and in one the DF was wild type while the NMC had the S45F mutation. One patient had a T41A mutation in the NMC and no associated DF. In the last patient, the DF lesion had a T41A mutation; there was no lesion with the S45P mutation. The presence of similar CTNNB1 mutations in NMC/DF-associated lesions and sporadic DF reinforces the relationship between both lesions and points to a common pathogenic mechanism.

UI	MeSH Term	Description	Entries
D007150	Immunohistochemistry	Histochemical localization of immunoreactive substances using labeled antibodies as reagents.	Immunocytochemistry,Immunogold Techniques,Immunogold-Silver Techniques,Immunohistocytochemistry,Immunolabeling Techniques,Immunogold Technics,Immunogold-Silver Technics,Immunolabeling Technics,Immunogold Silver Technics,Immunogold Silver Techniques,Immunogold Technic,Immunogold Technique,Immunogold-Silver Technic,Immunogold-Silver Technique,Immunolabeling Technic,Immunolabeling Technique,Technic, Immunogold,Technic, Immunogold-Silver,Technic, Immunolabeling,Technics, Immunogold,Technics, Immunogold-Silver,Technics, Immunolabeling,Technique, Immunogold,Technique, Immunogold-Silver,Technique, Immunolabeling,Techniques, Immunogold,Techniques, Immunogold-Silver,Techniques, Immunolabeling
D008279	Magnetic Resonance Imaging	Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques.	Chemical Shift Imaging,MR Tomography,MRI Scans,MRI, Functional,Magnetic Resonance Image,Magnetic Resonance Imaging, Functional,Magnetization Transfer Contrast Imaging,NMR Imaging,NMR Tomography,Tomography, NMR,Tomography, Proton Spin,fMRI,Functional Magnetic Resonance Imaging,Imaging, Chemical Shift,Proton Spin Tomography,Spin Echo Imaging,Steady-State Free Precession MRI,Tomography, MR,Zeugmatography,Chemical Shift Imagings,Echo Imaging, Spin,Echo Imagings, Spin,Functional MRI,Functional MRIs,Image, Magnetic Resonance,Imaging, Magnetic Resonance,Imaging, NMR,Imaging, Spin Echo,Imagings, Chemical Shift,Imagings, Spin Echo,MRI Scan,MRIs, Functional,Magnetic Resonance Images,Resonance Image, Magnetic,Scan, MRI,Scans, MRI,Shift Imaging, Chemical,Shift Imagings, Chemical,Spin Echo Imagings,Steady State Free Precession MRI
D008297	Male		Males
D009468	Neuromuscular Diseases	A general term encompassing lower MOTOR NEURON DISEASE; PERIPHERAL NERVOUS SYSTEM DISEASES; and certain MUSCULAR DISEASES. Manifestations include MUSCLE WEAKNESS; FASCICULATION; muscle ATROPHY; SPASM; MYOKYMIA; MUSCLE HYPERTONIA, myalgias, and MUSCLE HYPOTONIA.	Amyotonia Congenita,Oppenheim Disease,Cramp-Fasciculation Syndrome,Fasciculation-Cramp Syndrome, Benign,Foley-Denny-Brown Syndrome,Oppenheim's Disease,Benign Fasciculation-Cramp Syndrome,Benign Fasciculation-Cramp Syndromes,Cramp Fasciculation Syndrome,Cramp-Fasciculation Syndromes,Fasciculation Cramp Syndrome, Benign,Fasciculation-Cramp Syndromes, Benign,Foley Denny Brown Syndrome,Neuromuscular Disease,Oppenheims Disease,Syndrome, Cramp-Fasciculation,Syndrome, Foley-Denny-Brown,Syndromes, Cramp-Fasciculation
D010524	Peripheral Nervous System Neoplasms	Neoplasms which arise from peripheral nerve tissue. This includes NEUROFIBROMAS; SCHWANNOMAS; GRANULAR CELL TUMORS; and malignant peripheral NERVE SHEATH NEOPLASMS. (From DeVita Jr et al., Cancer: Principles and Practice of Oncology, 5th ed, pp1750-1)	Peripheral Nerve Neoplasms,Peripheral Nerve Neoplasms, Benign,Peripheral Nerve Neoplasms, Malignant,Peripheral Nerve Neoplastic Infiltration,Peripheral Nerve Tumors,Peripheral Nervous System Benign Neoplasms,Peripheral Nervous System Malignant Neoplasms,Neoplasm, Peripheral Nerve,Neoplasms, Peripheral Nerve,Nerve Neoplasm, Peripheral,Nerve Neoplasms, Peripheral,Nerve Tumor, Peripheral,Nerve Tumors, Peripheral,Peripheral Nerve Neoplasm,Peripheral Nerve Tumor,Tumor, Peripheral Nerve,Tumors, Peripheral Nerve
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D002828	Choristoma	A mass of histologically normal tissue present in an abnormal location.	Aberrant Tissue,Ectopic Tissue,Heterotopic Tissue,Aberrant Tissues,Choristomas,Ectopic Tissues,Heterotopic Tissues,Tissue, Aberrant,Tissue, Ectopic,Tissue, Heterotopic,Tissues, Aberrant,Tissues, Ectopic,Tissues, Heterotopic
D005091	Exons	The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.	Mini-Exon,Exon,Mini Exon,Mini-Exons
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man