scholarly journals Novel HMGA2-YAP1 fusion gene in aggressive angiomyxoma

2019 ◽  
Vol 12 (5) ◽  
pp. e227475 ◽  
Author(s):  
Mee-young Lee ◽  
Brandon da Silva ◽  
Daniel C Ramirez ◽  
Robert G Maki

We describe a case of a 44-year-old woman with locally advanced aggressive angiomyxoma with a novel translocation high-mobility group AT-hook 2–yes-associated protein 1 (HMGA2-YAP1) fusion, implying a t(11;12)(q22.1;q14.3) translocation. She was started on gonadotropin-releasing hormone agonist injection and an aromatase inhibitor for persistent disease, which responded to treatment; she was subsequently treated with radiation before a more definitive operation was conducted. This case report indicates that HGMA2-YAP1–translocated aggressive angiomyxoma is responsive to oestrogen antagonism and hopefully will allow for the development of diagnostics useful for this rare but often morbid neoplasm. This case also highlights the importance of appropriate workup of a soft tissue mass.

2014 ◽  
Vol 4 ◽  
pp. 23 ◽  
Author(s):  
Seema Narang ◽  
Supreethi Kohli ◽  
Vinod Kumar ◽  
Raj Chandoke

Aggressive angiomyxoma is a rare mesenchymal tumor involving the pelvic-perineal region. It occurs during the third and fourth decade of life and is predominantly seen in females. It presents clinically as a soft tissue mass in variable locations such as vulva, perianal region, buttock, or pelvis. Assessment of extent of the tumor by radiological evaluation is crucial for surgical planning; however, biopsy is essential to establish diagnosis. We present the radiological and pathological features seen in a 43-year-old female diagnosed with abdominal angiomyxoma with an unusual extension to the perineum.


Author(s):  
Sunil Vitthalrao Jagtap ◽  
Nitesh Nasre ◽  
Nitin S. Kshirsagar ◽  
Shubham S. Jagtap

Aggressive angiomyxoma is a rare mesenchymal tumor occurring predominantly in the pelviperineal region. Authors present a case of a 70 years female presented with history of distention of lower abdomen with recurrent pain since 6 months. On clinical examination there was suspicion of fibroid. On USG it was reported as huge fleshy, soft tissue mass measuring 20x10x9 cm in lower abdominal flanks and pelvis with vascular pedicle attached to right parametrium. Pan-hysterectomy was performed. Right broad ligament showed mass measuring 18.5x10x6 cm. On histopathological examination it was diagnosed as a case of Aggressive angiomyxoma of broad ligament. We are presenting this case for its extreme rarity, clinicohisto-pathological and radiological findings.


2021 ◽  
Vol 33 (2) ◽  
pp. 336-339
Author(s):  
Julia Blakey ◽  
Carmen Jerry ◽  
Ana da Silva ◽  
Simone Stoute

A 7-y-old backyard Leghorn chicken ( Gallus domesticus) was submitted to the California Animal Health and Food Safety Laboratory System (CAHFS)–Turlock branch for postmortem examination, with a history of unexpected death. At postmortem examination, a hemorrhagic soft tissue mass was observed in the cervical region. Microscopically, a densely cellular neoplasm of polygonal epithelial cells and small lymphocytes was observed. The microscopic features of the neoplasm in combination with positive immunohistochemistry for pancytokeratin and CD3 were used to classify the lesion as a thymoma. Thymoma was diagnosed in only 5 birds submitted to CAHFS from 1990 to 2019. Thymoma has been described only rarely in birds, and is an unusual diagnosis in backyard chickens.


VCOT Open ◽  
2021 ◽  
Vol 04 (01) ◽  
pp. e41-e46
Author(s):  
Federica Aragosa ◽  
Chiara Caterino ◽  
Giovanni Della Valle ◽  
Ilaria D'Aquino ◽  
Dario Costanza ◽  
...  

AbstractThe aim of this report is to describe an unusual localization of nerve sheath tumour (NST), clinical presentation, imaging, surgical management, and outcome in a 2-year-old dog. A 2-year-old female American Staffordshire Terrier presented with nonambulatory paraparesis, thoracolumbar hyperaesthesia, hindlimb hyperreflexia, and mild muscle atrophy. Computed tomography and magnetic resonance imaging revealed an extradural mass at T7-T8, without vertebral lesions. Surgical treatment consisted in resection of the soft tissue mass through dorsal laminectomy. The dog was ambulatory within 24 hours and free of recurrence at 18 months postoperatively. Histopathologic and features of immunohistochemistry were consistent with NST. The NST of this report was similar to those described before, but exhibited unusual characteristics, such as being extradural, without extension into intervertebral foramina, and being located in an atypical region (T7-T8). Moreover, survival time and relapse-free interval are greater than previously reported for similar cases.


2021 ◽  
Vol 14 (3) ◽  
pp. e237099
Author(s):  
Daanesh Huned ◽  
Juinn Huar Kam ◽  
Lui Shiong Lee ◽  
Raj Vikesh Tiwari

Synovial sarcomas are most commonly localised in extremities, especially in the lower thigh and knee areas. Comprising less than 1% of all malignancies, retroperitoneal synovial sarcoma is very rare with primary synovial sarcoma of the kidney being even more infrequent and difficult to diagnose. We describe a case report of a renal synovial sarcoma in a young adult who was initially managed as a case of Wunderlich’s syndrome secondary to what was believed to be a ruptured renal angiomyolipoma. After biopsy confirmation, the patient was eventually managed with neo-adjuvant chemotherapy followed by a right radical nephrectomy and right hepatectomy. Despite its rarity, synovial sarcoma should be considered as differential diagnosis of a bleeding retroperitoneal soft tissue mass detected in young adults.


2007 ◽  
Vol 36 (12) ◽  
pp. 1177-1177 ◽  
Author(s):  
Tomoya Sakabe ◽  
Hiroaki Murata ◽  
Yukiko Tokumoto ◽  
Kazutaka Koto ◽  
Takaaki Matsui ◽  
...  

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