scholarly journals MYOD1 (L122R) mutations are associated with spindle cell and sclerosing rhabdomyosarcomas with aggressive clinical outcomes

2016 ◽  
Vol 29 (12) ◽  
pp. 1532-1540 ◽  
Author(s):  
Bharat Rekhi ◽  
Pawan Upadhyay ◽  
Manoj P Ramteke ◽  
Amit Dutt
Keyword(s):  
Clinical Outcomes ◽  
Spindle Cell ◽  
Neck Region ◽  
Immunohistochemical Analysis ◽  
Embryonal Rhabdomyosarcoma ◽  
Head And Neck Region ◽  
Recurrent Mutations ◽  
Alive With Disease ◽  
Sclerosing Rhabdomyosarcoma ◽  
Aggressive Clinical Course

Abstract Recurrent mutations in the myogenic transcription factor MYOD1 and PIK3CA were initially described in a subset of embryonal rhabdomyosarcomas. Recently, two independent studies demonstrated presence of MYODI (L122R) mutations as the basis to re-classify a spindle cell rhabdomyosarcoma, along with a sclerosing rhabdomyosarcoma, distinct from an embryonal rhabdomyosarcoma. We analyzed a much larger cohort of 49 primary rhabdomyosarcoma tumor samples of various subtypes, collected over a period of 9 years, for the presence of MYOD1 (L122R), PIK3CA (H1047), and PIK3CA (E542/E545) mutations, along with immunohistochemical analysis of desmin, myogenin, and MYOD1. Although activating PIK3CA mutations were absent across the sample set analyzed, we report 20% MYOD1 (L122R) mutation in rhabdomyosarcomas, found exclusively in 10 of 21 spindle cell and sclerosing rhabdomyosarcomas, occurring mostly in the head and neck region along with extremity sites (64%), than the paratesticular and intra-abdominal sites. Furthermore, while all 10 MYOD1 mutant spindle cell and sclerosing rhabdomyosarcoma samples showed diffuse and strong MYOD1 immunoexpression, 7 of 31 samples of rhabdomyosarcoma with wild-type MYOD1 were negative for MYOD1 expression. Clinically, a striking correlation was found between MYOD1 mutation and the clinical outcomes available for 15 of 21 cases: 5 of 7 patients with spindle cell and sclerosing rhabdomyosarcomas, harboring MYOD1 mutation, were alive-with-disease and 2 of 8 patients with spindle cell and sclerosing rhabdomyosarcomas, with mutant MYOD1, were free-of-disease. Taken together, we present the first report of MYOD1 (L122R) mutation in the largest cohort of 49 rhabdomyosarcomas reported so far, that are associated with a relatively aggressive clinical course. Moreover, consistent with the earlier two studies, this study further reinforces a relationship between spindle cell and the sclerosing rhabdomyosarcoma—now recognized as a single subtype, distinct from an embryonal rhabdomyosarcoma.

Myeloid Sarcoma of the Head and Neck Region

2013 ◽  
Vol 137 (11) ◽  
pp. 1560-1568 ◽  
Author(s):  
Jane Zhou ◽  
Diana Bell ◽  
L. Jeffrey Medeiros
Keyword(s):  
Head And Neck ◽  
Low Frequency ◽  
Neck Region ◽  
Immunohistochemical Analysis ◽  
Myeloid Sarcoma ◽  
Head And Neck Region ◽  
Bone Marrow Disease ◽  
Highly Sensitive ◽  
History Of ◽  
High Degree

Context.—Myeloid sarcoma of the head and neck region can pose diagnostic challenges because of the low frequency of myeloid sarcoma and the potential for tumors of almost any lineage to occur in the head and neck. Objective.—To study the clinicopathologic and immunohistochemical characteristics of myeloid sarcoma in the head and neck region and to review the differential diagnosis. Design.—We searched for cases of myeloid sarcoma involving the head and neck region for a 24-year period at our institution. The medical records and pathology slides were reviewed. Additional immunohistochemical stains were performed. Results.—We identified 17 patients, age 17 to 85 years. Most tumors involved the oral cavity. Myeloid sarcoma was the initial diagnosis in 9 patients (53%); the remaining 8 patients (47%) had a history of bone marrow disease. Immunohistochemical analysis using antibodies specific for lysozyme, CD43, and CD68 were highly sensitive for diagnosis but were not specific. By contrast, assessment for myeloperoxidase in this study was less sensitive but more specific. We also used antibodies specific for CD11c and CD33 in a subset of cases, and these reagents seem helpful as well. Conclusions.—The clinical presentation of myeloid sarcoma involving the head and neck, particularly the mouth, is often nonspecific, and a high degree of suspicion for the possibility of myeloid sarcoma is needed. Immunohistochemistry is very helpful for establishing the diagnosis.

Pediatric Angiosarcoma of Soft Tissue: A Rare Clinicopathologic Entity

2010 ◽  
Vol 134 (3) ◽  
pp. 481-485 ◽  
Author(s):  
Lobna Ayadi ◽  
Abdelmajid Khabir
Keyword(s):  
Spindle Cell ◽  
Immunohistochemical Study ◽  
Kaposi Sarcoma ◽  
Neck Region ◽  
Epithelioid Hemangioendothelioma ◽  
Vascular Tumors ◽  
Clinical Settings ◽  
Vascular Differentiation ◽  
Head And Neck Region ◽  
Poorly Differentiated

Abstract Angiosarcomas are rare tumors that predominantly affect adults and elderly patients. Although angiosarcomas are well described in a variety of clinical settings, they have been poorly studied in children and little is known about their biology, natural history, or optimal treatment. Childhood angiosarcomas are exceedingly rare. The head and neck region and mediastinum seem to be the preferred locations. Most tumors are high-grade tumors. Vasoformative architecture is not always obvious on light microscopy requiring the benefit of immunohistochemical study. The differential diagnosis includes Kaposi sarcoma, epithelioid hemangioendothelioma, hemangiopericytoma, and spindle cell hemangioendothelioma whose prognosis is different. Complete resection is required for patients with localized tumors. Malignant vascular tumors are rare in children in the first 2 decades of life and when they do occur they seem to be more aggressive than in adults. Pathologic diagnosis is difficult particularly in poorly differentiated angiosarcomas requiring immunohistochemical study to confirm vascular differentiation.

scholarly journals Spindle Cell Hemangioendothelioma of the Temporal Muscle Resected with Zygomatic Osteotomy: A Case Report of an Unusual Intramuscular Lesion Mimicking Sarcoma

2011 ◽  
Vol 2011 ◽  
pp. 1-4 ◽  
Author(s):  
Tomohiro Minagawa ◽  
Takeshi Yamao ◽  
Ryuta Shioya
Keyword(s):  
Case Report ◽  
Surgical Treatment ◽  
Soft Tissue ◽  
Soft Tissue Sarcoma ◽  
Spindle Cell ◽  
Neck Region ◽  
Benign Neoplasm ◽  
Low Grade ◽  
Temporal Muscle ◽  
Head And Neck Region

Spindle cell hemangioendothelioma (SCH) was originally described by Weiss and Enzinger (1986) as a low-grade angiosarcoma resembling both cavernous hemangioma and Kaposi's sarcoma. Recent studies suggest that SCH is a benign neoplasm or reactive lesion accompanying a congenital or acquired vascular malformation. Most SCHs present as one or more nodules affecting the dermis or subcutis of the distal extremities. Few reports describe SCH of the head and neck region; even fewer note intramuscular SCH. Here, we describe a case of SCH involving the temporal muscle mimicking soft tissue sarcoma, who had a successful surgical treatment with a coronal approach and zygomatic osteotomy.

Five Cases of Spindle Cell Carcinoma of the Head and Neck Region

2018 ◽  
Vol 111 (8) ◽  
pp. 557-563
Author(s):  
Hiyori Takahashi ◽  
Kenichi Watanabe ◽  
Masayuki Shirakura ◽  
Yohei Honkura ◽  
Daisuke Yamauchi ◽  
...  
Keyword(s):  
Cell Carcinoma ◽  
Head And Neck ◽  
Spindle Cell ◽  
Neck Region ◽  
Spindle Cell Carcinoma ◽  
Head And Neck Region

Oral Rehabilitation Following Removal of a Rhabdomyosarcoma and Subsequent Microstomia: A Case Report

2011 ◽  
Vol 37 (3) ◽  
pp. 353-360 ◽  
Author(s):  
Hakan Bilhan ◽  
Onur Geckili ◽  
Belir Atalay ◽  
Selda Arat
Keyword(s):  
Case Report ◽  
Head And Neck ◽  
Dental Implants ◽  
Malignant Tumor ◽  
Dental Treatment ◽  
Neck Region ◽  
Embryonal Rhabdomyosarcoma ◽  
Oral Rehabilitation ◽  
Head And Neck Region ◽  
Hybrid Prosthesis

Abstract Rhabdomyosarcoma is a malignant tumor that is most often seen in children younger than 15 years of age. This pathology is found mainly in the head and neck region. Treatment of rhabdomyosarcoma at early stages of life usually affects the dental and osseous development of children. Because of impaired development, microstomia can arise, making dental treatment more difficult. This article presents a patient with microstomia caused by resection of an embryonal rhabdomyosarcoma in the nasolabial region. The patient was treated with 5 dental implants and fixed hybrid prosthesis in the maxilla and 2 implants supporting an overdenture in the mandible.

scholarly journals Embryonal Rhabdomyosarcoma: A Case Report

2016 ◽  
Vol 21 (2) ◽  
pp. 127-131
Author(s):  
Muntasir Mahbub ◽  
Nabila Mannan ◽  
Md Mazharul Shaheen ◽  
Manash Ranjan Chakraborti ◽  
AKM Shaifuddin ◽  
...  
Keyword(s):  
Neck Region ◽  
Rare Condition ◽  
Embryonal Rhabdomyosarcoma ◽  
Childhood And Adolescence ◽  
Complete Excision ◽  
Temporal Fossa ◽  
Head And Neck Region ◽  
Head Neck ◽  
Mastoid Antrum

Rhabdomyosarcoma is the most common soft tissue sarcoma of childhood and adolescence. There are four histological types and among them the embryonic types are the most common. It can occur in any anatomic location, although when occurring in the head and neck region, it has an affinity to invade the cranial cavity. Patient was a 5 years old boy who was admitted with the complaints of pain and discharge from the ear, swelling on left side of the upper neck, and mastoid region and a fleshy mass protruding from the ear canal. The mass was confirmed to be Embryonal Rhabdomyosarcoma on histopathology. CT scan of the Head-Neck region, showed extension of the mass into infra-temporal fossa and in the mastoid antrum. After complete excision, the patient was referred to oncology deptt for consultation. The chemotherapy schedule comprised of Vincristine and Dactinomycine for 9-12 cycles. Otolaryngologists need to be aware of this rare condition as it may mimic the symptoms of CSOM or nasal polyp. And also long term followup is needed since recurrence can present several years after initial treatment.Bangladesh J Otorhinolaryngol; October 2015; 21(2): 127-131

Eight Cases of Spindle Cell Carcinoma Arising in the Head and Neck Region

2021 ◽  
Vol 156 (0) ◽  
pp. 61-65
Author(s):  
Yuki Yamaguchi ◽  
Seiji Hosokawa ◽  
Junya Kita ◽  
Daiki Mochizuki ◽  
Atushi Imai ◽  
...  
Keyword(s):  
Cell Carcinoma ◽  
Head And Neck ◽  
Spindle Cell ◽  
Neck Region ◽  
Spindle Cell Carcinoma ◽  
Head And Neck Region

Primary monophasic breast synovial sarcoma in a female patient

2021 ◽  
Vol 14 (8) ◽  
pp. e242313
Author(s):  
Quan Do ◽  
Vatsala Katiyar ◽  
Andrea Breaux ◽  
Vikas Singh
Keyword(s):  
Synovial Sarcoma ◽  
Soft Tissues ◽  
Epithelial Membrane Antigen ◽  
Spindle Cell ◽  
Neck Region ◽  
Fusion Transcript ◽  
Spindle Cell Carcinoma ◽  
Head And Neck Region ◽  
Immunohistochemistry Staining ◽  
Uncommon Location

Synovial sarcoma (SS) is a rare soft tissue sarcoma usually arising in the deep soft tissues of the limbs, trunk, and head and neck region. Due to its rarity, diagnosis can be difficult to establish, especially when it involves an uncommon location like the breast. In this case report, we describe a young woman who was found to have primary SS of the breast. Initial immunohistochemistry staining was focally positive for cytokeratin and S100 and she was misdiagnosed with atypical spindle cell carcinoma. Due to the unusual presentation, further testing was performed which showed TLE1 and epithelial membrane antigen positivity, establishing the diagnosis of SS of the breast. A FISH was later sent out and was positive for SS18-SSX fusion transcript. This case highlights the importance of considering rare histopathology in breast lesions and using additional staining and cytogenetics to confirm diagnosis.

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