scholarly journals Highly aggressive undifferentiated small round blue cell tumor of foot with unique SMARCA1, KAT6A and NAV3 mutations

2019 ◽  
Vol 2019 (9) ◽  
Author(s):  
Cyrus Parsa ◽  
Robert Orlando ◽  
Michael Marcus ◽  
Jin Guo ◽  
Ravin Rupani
Keyword(s):  
Cancer Progression ◽  
Cell Tumor ◽  
Chromosome 22 ◽  
High Grade ◽  
Mutational Pattern ◽  
Blue Cell ◽  
Ets Family ◽  
Round Blue Cell Tumor ◽  
Ewing Family Of Tumors ◽  
Different Tissues

ABSTRACT Malignancies characterized histologically by high-grade monotonous small round blue cells (SRBCs) belong to a heterogeneous group of neoplasms often referred to as Ewing family of tumors. The most common molecular confirmation of these neoplasms is by fusions between EWSR1 gene on chromosome 22 and the ETS family of transcription factors, including FLI1 gene (11q24) and the ERG (21q22), that are implicated in the development of different tissues as well as cancer progression. In this article, we present a case of highly aggressive extraskeletal SRBC tumor involving the foot of a 24-year-old male with sole molecular findings of mutations in KAT6A, NAV3 and SMARCA1 genes with high expression of soft tissue markers (COL1A1, COL1A2, COL3A1) and MYC mRNA. To our knowledge, this unique mutational pattern has not previously been described in SRBCs.

Small cell carcinoma of the submandibular gland: a rare small round blue cell tumor

2007 ◽  
Vol 28 (2) ◽  
pp. 118-121 ◽  
Author(s):  
David M. Walters ◽  
Stewart C. Little ◽  
Richard B. Hessler ◽  
Christine G. Gourin
Keyword(s):  
Cell Carcinoma ◽  
Submandibular Gland ◽  
Small Cell Carcinoma ◽  
Small Cell ◽  
Cell Tumor ◽  
Blue Cell ◽  
Round Blue Cell Tumor

scholarly journals Title-An Extrapolation to Small Round Blue Cell Tumor Diagnosed as Esthesioneuroblastoma –Acase Series

2016 ◽  
Vol 15 (08) ◽  
pp. 43-47
Author(s):  
Dr. Arnav Sahu ◽  
Dr.Anu Singh ◽  
Dr Abhishek Verma ◽  
Dr Trilochan Singh ◽  
Dr. R.K. Srivastava ◽  
...  
Keyword(s):  
Cell Tumor ◽  
Blue Cell ◽  
Round Blue Cell Tumor

scholarly journals Ectopic ACTH Syndrome and Hypothyroidism Due to Right Renal Small Round Blue Cell Tumor: A Case Report

2020 ◽  
Author(s):  
Weipu Mao ◽  
Jiajia Xu ◽  
Haowen Lu ◽  
Yali Wang ◽  
Lihua Zhang ◽  
...  
Keyword(s):  
Computed Tomography ◽  
Thyroid Hormone ◽  
Soft Tissues ◽  
Cell Tumor ◽  
Lumbar Pain ◽  
Ectopic Acth Syndrome ◽  
Histopathological Analysis ◽  
Ectopic Acth ◽  
Blue Cell ◽  
Round Blue Cell Tumor

Abstract Background: Small round blue cell malignancies are rare and highly aggressive tumors that are commonly located in the soft tissues or axial bones of the bone or trunk and are particularly rare in the kidney. The common cause of ectopic ACTH syndrome is pulmonary neuroendocrine tumors, such as small cell carcinomas and carcinoid tumors. Here, we present an unusual case of ectopic ACTH syndrome and hypothyroidism caused by small round blue cell tumor of the right kidney.Case presentation: A 19-year-old girl presented with a history of right lumbar pain and discomfort for 2 months, aggravated for 2 days. Abdominal contrast-enhanced computed tomography and computed tomography angiography showed right suprarenal pole occupancy with subepithelial hemorrhage. Preoperative hormone levels including plasma total cortisol (PTC), adrenocorticotrophic hormone (ACTH) and thyroid hormone measurements were abnormal, indicating that the patient had Cushing syndrome and hypothyroidism. The patient underwent right radical nephrectomy. Histopathological analysis revealed a renal small round blue cell tumor (consistent with a primitive neuroectodermal tumor), with positive immunohistochemistry for CD99 and Ki67 (about 10%) and molecular pathology for EWSR1 gene fusions. PTC, ACTH and thyroid hormone returned to normal after surgery.Conclusions: We report a rare ectopic ACTH syndrome and hypothyroidism due to renal small round blue cell tumor. The clinical manifestation of renal small round blue cell tumor is non-specific and the diagnosis relies on pathological morphology, immunohistochemistry and fusion gene detection. At present, surgery combined with radiotherapy and chemotherapy is used in the treatment, but the prognosis is still not optimistic.

scholarly journals Primary primitive neuroectodermal tumor of the adrenal gland: A unique tumor at an unusual site

2021 ◽  
Vol 8 (3) ◽  
pp. 429-432
Author(s):  
Rakhi V Jagdale ◽  
Jaydeep N Pol
Keyword(s):  
Primitive Neuroectodermal Tumor ◽  
English Literature ◽  
Young Female ◽  
Cell Tumor ◽  
Neuroectodermal Tumor ◽  
Unusual Site ◽  
Non Hodgkin Lymphoma ◽  
Blue Cell ◽  
Neuroectodermal Origin ◽  
Round Blue Cell Tumor

Ewing sarcoma/Primitive Neuroectodermal Tumor (ES/PNET) is a malignant small round blue cell tumor of neuroectodermal origin that affects bones and soft tissue in children and young adults. ES/PNET is very uncommon in parenchymal organs. We report a case of primary adrenal PNET in a young female having pregnancy induced persistent hypertension. She underwent right adrenalectomy for a large adrenal mass. On histopathology, it was typical malignant round cell tumor (MRCT). Immunohistochemistry confirmed the diagnosis of ES/PNET with expression of CD99, FLI-1 and NKX2.2. Until now, only 38 cases of primary adrenal ES/PNET have been reported in the English literature with just 5 cases from India. Adrenal ES/PNET can be mistaken with other MRCTs like Non-Hodgkin lymphoma and neuroblastoma. Since the biology, treatment and prognosis of these tumors is entirely different, we emphasize that pathologists must be aware of this possibility and try to differentiate them using ancillary techniques.

scholarly journals A small round blue cell tumor in urine: cytomorphology and differential diagnosis

CytoJournal ◽  
2021 ◽  
Vol 18 ◽  
pp. 18
Author(s):  
Prih Rohra ◽  
Fatima Mir ◽  
Ji-Weon Park ◽  
Mark Pool ◽  
Paolo Gattuso ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Cell Tumor ◽  
Blue Cell ◽  
Round Blue Cell Tumor

scholarly journals Round Blue Cell Tumor arising in the Background of Ameloblastic Fibrosarcoma

2013 ◽  
Vol 4 (2) ◽  
pp. 83-85
Author(s):  
Raza Hussain ◽  
Asif Loya ◽  
Arif Jamshed ◽  
Usman Hassan
Keyword(s):  
Malignant Neoplasm ◽  
Cell Tumor ◽  
World Health ◽  
Blue Book ◽  
Inferior Margin ◽  
Neck Tumors ◽  
Blue Cell ◽  
Ameloblastic Fibrosarcoma ◽  
Health Organization ◽  
Round Blue Cell Tumor

ABSTRACT World Health Organization (WHO) blue book of head and neck tumors reports 64 cases of ameloblastic fibrosarcoma and 14 cases of ameloblastic fibrodentinosarcoma/fibro-odontosarcoma. We present a unique case that does not fit into any of the WHO classified odontogenic sarcomas. The patient presented in 2006 with a densely sclerotic lesion arising from the left sphenoid bone, displacing the orbital contents and extending up to the inferior margin of the maxillary sinus. He was treated with left maxillectomy orbital exenteration. He relapsed 6 years later, salvage surgery was unsuccessful and subsequent care was supportive. Histologically the malignant neoplasm showed follicles comprising of peripheral columnar cells lined up in palisaded fashion with hyperchromatic nuclei displaced away from basement membrane. Center of the follicles comprised of spindle-shaped cells resembling stellate reticulum. Intervening areas showed fibrosarcomatous areas. Other areas revealed predominant sheets of round cells having hyperchromatic nuclei, inconspicuous nucleoli and scant cytoplasm. These round cells revealed strong membranous positivity for CD99. How to cite this article Hussain R, Hassan U, Jamshed A, Loya A. Round Blue Cell Tumor arising in the Background of Ameloblastic Fibrosarcoma. Int J Head Neck Surg 2013;4(2): 83-85.

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