Primary rhabdoid epithelioid sarcoma of the left thigh mimicking epithelioid rhabdomyosarcoma: A diagnostic pitfall

Magetsari, Rahadyan; Dwianingsih, Ery Kus; Putro, Yuni Artha Prabowo; Araneta, Irene; Sakti, Yudha Mathan

doi:10.1016/j.ijscr.2020.04.002

Cited by 2 publications

(6 citation statements)

References 14 publications

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“…Vascular invasion was reported in four cases [ 22 , 32 , 36 ]. Other histologic features were spindle cell proliferation (14 cases) [ 16 , 19 , 22 , 23 , 26 , 27 , 29 , 30 , 32 , 33 , 35 , 37 , 41 , 42 ], presence of signet ring cells (one case) [ 4 ], anaplasia (two cases) [ 23 , 47 ], and pseudoangiosarcomatous features (one case) [ 35 ]. Proximal epithelioid sarcoma was the initial diagnosis in most patients.…”

Section: Discussionmentioning

confidence: 99%

“…This tumor is characterized by aggressive behavior and poor prognosis [ 8 , 41 , 43 , 45 , 46 , 48 ]. According to studies, poor prognostic factors are regional lymph node involvement, early metastasis, high-grade tumors, vascular invasion, tumor size greater than 2 cm, deep location, and presence of necrosis [ 3 , 18 , 47 ].…”

Section: Discussionmentioning

confidence: 99%

“…Regarding treatment, 19 patients were treated surgically by wide local excision [1,4,11,12,19,[25][26][27][28][29][30][31][32][33][34], five with surgery plus lymphadenectomy [18,24,[35][36][37], seven underwent surgery and adjuvant radiotherapy [17,20,21,36,38,39], one underwent surgery and chemotherapy [26], six had surgery, chemotherapy, and adjuvant radiotherapy [13,16,17,[40][41][42], four underwent surgery, lymphadenectomy, and radiotherapy [23,36,43,44], one had surgery, lymphadenectomy, and chemotherapy [15], two underwent surgery, lymphadenectomy, radiotherapy, and chemotherapy, three received palliative radiotherapy and chemotherapy [36,45,46], and four underwent treatment with chemotherapy alone [9,10,33]. However, one patient, with metastases at presentation, received only palliative care [3] and two patients refused treatment...…”

Section: Authormentioning

confidence: 99%

“…Histologically, most cases were characterized by oval, polygonal, and pleomorphic epithelioid cells with abundant eosinophilic cytoplasm and enlarged vesicular nuclei with prominent nucleoli. In 22 cases, rhabdoid-looking areas were reported [4,9,11,13,17,20,21,25,[34][35][36][38][39][40][41][42]46,47].…”

Section: Pathological Findingsmentioning

confidence: 99%

“…The presence of hemorrhage [15,17,22,33,40,42] and necrosis [10,[15][16][17][18][19][21][22][23][25][26][27][32][33][34]36,37,[40][41][42]47] were common findings present in eight and 23 cases, respectively. High mitotic activity was reported in 18 tumors [3,4,10,12,16,18,19,22,24,25,31,32,35,37,[40][41][42], and in four of them, more than 20 mitoses were observed per 10 high-power fields [4,22,35,40]. Vascular invasion was reported in four cases [22,32,…”

Section: Pathological Findingsmentioning

confidence: 99%

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Clinicopathological Characteristics, Treatment, and Survival in Patients Diagnosed With Proximal-Type Epithelioid Sarcoma: A Case Report and Systematic Review

Buitron¹,

Panduro²,

Morales³

2022

Cureus

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Epithelioid sarcoma is a rare entity that shows a predilection for the young and middle-aged population. There are two subtypes, i.e., the distal or conventional type, which is located in distal extremities, and the proximal type, located in proximal areas of the extremities, pelvis, perineal, and genital region. The latter is characterized by more aggressive behavior, a higher recurrence rate, and poor prognosis. Histopathological and immunohistochemical diagnoses are key to correct and timely treatment and a higher survival rate. We report a case of a 41-year-old man who presented a palpable progressive growth mass in the hypogastrium. The disease time was of nine months, and the tumor was resected, but it recurred a few months later in the same location. Computed tomography (CT) scans showed images suggestive of lung metastasis and the patient had to undergo a second surgery. He received eight cycles of chemotherapy and a subsequent CT scan control showed the progression of the disease, so a new chemotherapy regimen was established. The patient received three cycles of chemotherapy without improvement, so he decided to discontinue treatment. His last outpatient medical consultation was in January 2022. A systematic review of the studies published in PubMed and Google Scholar was performed. We identified 291 articles, but only 41 reports and case series were included, with a total of 55 patients. It is important to include this type of tumor in the differential diagnosis of epithelial tumors due to its aggressive behavior. Correct and timely diagnosis is crucial to obtain lower recurrence rates, lower mortality, and higher survival rates in these patients.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Authormentioning

confidence: 99%

Section: Pathological Findingsmentioning

confidence: 99%

Section: Pathological Findingsmentioning

confidence: 99%

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Clinicopathological Characteristics, Treatment, and Survival in Patients Diagnosed With Proximal-Type Epithelioid Sarcoma: A Case Report and Systematic Review

Buitron¹,

Panduro²,

Morales³

2022

Cureus

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Epithelioid and spindle rhabdomyosarcoma with TFCP2 rearrangement in abdominal wall: a distinctive entity with poor prognosis

Wang

et al. 2023

Diagn Pathol

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Background Epithelioid and spindle rhabdomyosarcoma (ES-RMS) with TFCP2 rearrangement is a recently discovered rare variant of rhabdomyosarcoma composed of epithelioid and spindle cells, because it shows extraordinarily adverse prognosis and is easily misdiagnosed as other epithelioid or spindle cell tumors. Methods A rare case of ES-RMS with TFCP2 rearrangement was presented and English literatures in Pubmed online up to 01 July 2022 were gathered by two authors for a systematic review according to the inclusion and exclusion criteria. Case presentation/results We report a case of ES-RMS in an early 30s-years-old female, the neoplastic cells are remarkably immunoreactive with CK(AE1/AE3), and partially with ALK protein. Unexpectedly, the tumor shows TFCP2 rearrangement with coexistence of increased copy numbers of EWSR1 and ROS1 gene and MET gene mutation. Besides, Next-generation sequencing for genetic mutational profiling revealed frequent MET exon14 mutations in chromosome 7, most of which are C > T nonsynonymous SNV, and exon42 of ROS1 in chromosome 6 showed frequent G > T mutation up to 57.54%. In addition, neither MyoD1 mutation nor gene fusions were detected. Moreover, the patient shows high tumor mutational burden (TMB) up to 14.11 counts/Mb. Finally, as many cases of ES-RMS including our case had local progression or metastasis, we find, similar to epithelioid rhabdomyosarcoma (median survival time is 10 month), ES-RMS shows a more aggressive behavior and adverse prognosis (median survival time is 17 month) than spindle cell/sclerosing rhabdomyosarcoma (median survival time is 65 month) according previous studies. Conclusions ES-RMS with TFCP2 rearrangement is a rare malignant tumor and easily confused with other epithelioid or spindle cell tumors, it may harbor additional gene alteration in addition to TFCP2 rearrangement, such as MET mutation, increased copy numbers of EWSR1 and ROS1 gene, high TMB. Most importantly, it may show very poor outcome with extensive metastasis.

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Primary rhabdoid epithelioid sarcoma of the left thigh mimicking epithelioid rhabdomyosarcoma: A diagnostic pitfall

Cited by 2 publications

References 14 publications

Clinicopathological Characteristics, Treatment, and Survival in Patients Diagnosed With Proximal-Type Epithelioid Sarcoma: A Case Report and Systematic Review

Clinicopathological Characteristics, Treatment, and Survival in Patients Diagnosed With Proximal-Type Epithelioid Sarcoma: A Case Report and Systematic Review

Epithelioid and spindle rhabdomyosarcoma with TFCP2 rearrangement in abdominal wall: a distinctive entity with poor prognosis

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