A Rare Case of Lower Limb Sarcoma With BCOR-CCNB3 Mutation: Diagnosis and Treatment

被引：1

作者：

Kedia, Ansh ^{[1
]}

Singh, Gurpreet ^{[2
]}

Parmar, Subhangi ^{[3
]}

Varsha, Hima ^{[4
]}

Tango, Tamara ^{[5
]}

Agarwal, Pahel ^{[6
]}

Sahu, Sweta ^{[7
]}

Chauhan, Dharmesh R. ^{[8
]}

机构：

[1] Banaras Hindu Univ, Inst Med Sci, Med, Varanasi, India

[2] Govt Med Coll & Hosp, Med, Chandigarh, India

[3] Gujarat Canc Soc GCS Med Coll, Internal Med, Ahmadabad, India

[4] NRI Med Coll & Gen Hosp, Med Sch, Chinakakani, India

[5] Univ Indonesia, Fac Med, Neurosurg, Jakarta, Indonesia

[6] Bhaskar Med Coll, Internal Med, Hyderabad, Pakistan

[7] Jagadguru Jayadeva Murugarajendra JJM Med Coll, Surg, Davanagere, India

[8] Govt Med Coll Surat, Gen Surg, Surat, India

来源：

CUREUS JOURNAL OF MEDICAL SCIENCE | 2023年 / 15卷 / 02期

关键词：

tumours; sarcoma; ewing-like sarcoma; lower limb sarcoma; bcor-ccnb3; EWING-LIKE SARCOMAS; FUSION;

D O I：

10.7759/cureus.35389

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

In the past, BCOR-CCNB3 sarcoma was believed to be comparable to Ewing's sarcoma; however, current research has proven that it is, in reality, a distinct type of the illness, now classified as a distinct entity under undifferentiated round cell sarcomas. This tumour most frequently affects teenagers and young adults, and it is more prevalent in men. It can form in both bone and soft tissue, and it appears most frequently in the pelvis, lower extremities, and paraspinal region. Here, we describe a case of a soft tissue tumour in the proximal posterior portion of the right thigh of a 12-year-old male that was subsequently shown to be a BCOR-CCNB3 fusion using genetic analysis.

引用

页数：9

共 13 条

[1] Round cell sarcomas beyond Ewing: emerging entities
Antonescu, Cristina
[J]. HISTOPATHOLOGY, 2014, 64 (01) : 26 - 37
[2] Primary Renal Sarcomas With BCOR-CCNB3 Gene Fusion: A Report of 2 Cases Showing Histologic Overlap With Clear Cell Sarcoma of Kidney, Suggesting Further Link Between BCOR-related Sarcomas of the Kidney and Soft Tissues
Argani, Pedram
Kao, Yu-Chien
Zhang, Lei
Bacchi, Carlos
Matoso, Andres
Alaggio, Rita
Epstein, Jonathan I.
Antonescu, Cristina R.
[J]. AMERICAN JOURNAL OF SURGICAL PATHOLOGY, 2017, 41 (12) : 1702 - 1712
[3] Imaging features and clinical course of undifferentiated round cell sarcomas with CIC-DUX4 and BCOR-CCNB3 translocations
Brady, Emily J.
Hameed, Meera
Tap, William D.
Hwang, Sinchun
[J]. SKELETAL RADIOLOGY, 2021, 50 (03) : 521 - 529
[4] Ewing-like Sarcomas With BCOR-CCNB3 Fusion Transcript: A Clinical, Radiological and Pathological Retrospective Study From the Societe Francaise des Cancers de L'Enfant
Cohen-Gogo, Sarah
Cellier, Cecile
Coindre, Jean-Michel
Mosseri, Veronique
Pierron, Gaelle
Guillemet, Cecile
Italiano, Antoine
Brugieres, Laurence
Orbach, Daniel
Laurence, Valerie
Delattre, Olivier
Michon, Jean
[J]. PEDIATRIC BLOOD & CANCER, 2014, 61 (12) : 2191 - 2198
[5] Dickson Brendan C, 2021, Surg Pathol Clin, V14, P679, DOI 10.1016/j.path.2021.06.009
[6] BCOR-CCNB3 Fusion Positive Sarcomas A Clinicopathologic and Molecular Analysis of 36 Cases With Comparison to Morphologic Spectrum and Clinical Behavior of Other Round Cell Sarcomas
Kao, Yu-Chien
Owosho, Adepitan A.
Sung, Yun-Shao
Zhang, Lei
Fujisawa, Yumi
Lee, Jen-Chieh
Wexler, Leonard
Argani, Pedram
Swanson, David
Dickson, Brendan C.
Fletcher, Christopher D. M.
Antonescu, Cristina R.
[J]. AMERICAN JOURNAL OF SURGICAL PATHOLOGY, 2018, 42 (05) : 604 - 615
[7] A Comparison of Fine-needle Aspiration, Core Biopsy, and Surgical Biopsy in the Diagnosis of Extremity Soft Tissue Masses
Kasraeian, Sina
Allison, Daniel C.
Ahlmann, Elke R.
Fedenko, Alexander N.
Menendez, Lawrence R.
[J]. CLINICAL ORTHOPAEDICS AND RELATED RESEARCH, 2010, 468 (11) : 2992 - 3002
[8] Fusion between CIC and DUX4 up-regulates PEA3 family genes in Ewing-like sarcomas with t(4;19)(q35;q13) translocation
Kawamura-Saito, Miho
Yamazaki, Yukari
Kaneko, Keiko
Kawaguchi, Noriyoshi
Kanda, Hiroaki
Mukai, Hiroyuki
Gotoh, Takahiro
Motoi, Tohru
Fukayama, Masashi
Aburatani, Hiroyuki
Takizawa, Toichiro
Nakamura, Takuro
[J]. HUMAN MOLECULAR GENETICS, 2006, 15 (13) : 2125 - 2137
[9] A new subtype of bone sarcoma defined by BCOR-CCNB3 gene fusion
Pierron, Gaelle
Tirode, Franck
Lucchesi, Carlo
Reynaud, Stephanie
Ballet, Stelly
Cohen-Gogo, Sarah
Perrin, Virginie
Coindre, Jean-Michel
Delattre, Olivier
[J]. NATURE GENETICS, 2012, 44 (04) : 461 - U151
[10] Ewing sarcoma and Ewing-like tumors
Sbaraglia, Marta
Righi, Alberto
Gambarotti, Marco
Dei Tos, Angelo P.
[J]. VIRCHOWS ARCHIV, 2020, 476 (01) : 109 - 119

← 1 2 →