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 EUS-FNA for the Diagnosis of Retroperitoneal Primitive Neuroectodermal Tumor

2011 ◽  
Vol 2011 ◽  
pp. 1-3 ◽  
Author(s):  
Aijaz A. Sofi ◽  
Ashish D. Thekdi ◽  
Ali Nawras
Keyword(s):  
Primitive Neuroectodermal Tumor ◽  
Ewing’S Sarcoma ◽  
Ewing's Sarcoma ◽  
Percutaneous Biopsy ◽  
Needle Aspiration ◽  
Neuroectodermal Tumor ◽  
Novel Approach ◽  
History Of ◽  
Blue Cell ◽  
Round Blue Cell Tumor

Primitive neuroectodermal tumor (PNET) is a rare “small round blue cell tumor” that is diagnosed by open biopsy or percutaneous biopsy of the lesion under radiologic guidance. In this case report, we present a novel approach to the diagnosis of a retroperitoneal PNET by endoscopic ultrasound- (EUS-) guided fine needle aspiration (FNA). A 35-year-old man presented with the history of left-sided flank pain and swelling of 3-weeks duration. Computerized tomography (CT) scan of his abdomen revealed a 12.8 × 13 × 12.5 cm cystic and solid mass arising from the retroperitoneum and displacing the third and fourth portions of the duodenum. He underwent EUS which revealed a well-circumscribed heterogeneous mass abutting the inferior portion of the stomach. EUS-FNA of the mass revealed malignant cells consistent with primitive neuroectodermal tumor (PNET)/Ewing's sarcoma. EUS-guided FNA is an appropriate technique for diagnosing retroperitoneal PNET/Ewing's sarcoma.

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.

Primitive Neuroectodermal Tumor in a Child with Human Immunodeficiency Virus Infection: A Rare Association

2019 ◽  
Author(s):  
Aman Gupta ◽  
Dharmagat Bhattarai ◽  
Bishnu Kumar Thapa ◽  
Mayur Parkhi ◽  
Pandiarajan Vignesh ◽  
...  
Keyword(s):  
Human Immunodeficiency Virus ◽  
Antiretroviral Therapy ◽  
Virus Infection ◽  
Hiv Infection ◽  
Primitive Neuroectodermal Tumor ◽  
Neuroectodermal Tumor ◽  
Rare Association ◽  
Non Hodgkin Lymphoma ◽  
Wide Range ◽  
Immunodeficiency Virus

Abstract Children with human immunodeficiency virus (HIV) infection are reported to have various malignancies, most common being Non-Hodgkin lymphoma. Despite higher risk of malignancies, brain tumors are infrequently described in these children. We report Primitive Neuroectodermal tumor (PNET) in a young boy with HIV infection. PNET has never been described in association with HIV infection. Though a causative association cannot be established, it does emphasize that with longer survivals on effective antiretroviral therapy, we may see a wide range of malignancies more frequently.

scholarly journals Response to 5-Fluorouracil-Based Chemotherapy in a Patient with Metastatic Colonic-Type Adenocarcinoma Arising in a Primary Mediastinal Teratoma

2012 ◽  
Vol 2012 ◽  
pp. 1-4
Author(s):  
Arunee Dechaphunkul ◽  
Gilbert Bigras ◽  
Michael Sawyer
Keyword(s):  
Germ Cell ◽  
Malignant Transformation ◽  
Germ Cell Tumor ◽  
Primitive Neuroectodermal Tumor ◽  
Chemotherapy Regimen ◽  
Cell Tumor ◽  
Neuroectodermal Tumor ◽  
Mediastinal Teratoma ◽  
First Case ◽  
Localized Disease

Germ cell tumor with somatic malignant transformation is an uncommon phenomenon occurring about 7% of all mediastinal teratomas. Among all transformed component, sarcoma appears to be the most frequent histology, followed by primitive neuroectodermal tumor (PNET) and adenocarcinoma. To our knowledge, there were 3 cases of colonic-type adenocarcinoma arising in a primary teratoma have been reported to date. However, none of them received chemotherapy directed to transformed histology given localized disease at presentation. We, therefore, report here the first case of patient who achieved good response from chemotherapy directed to transformed histology, which confirms the importance of chemotherapy regimen used.

Primitive Neuroectodermal Tumor/Ewing Sarcoma of the Retina

2012 ◽  
Vol 136 (7) ◽  
pp. 829-831 ◽  
Author(s):  
Hans E. Grossniklaus ◽  
Bahig Shehata ◽  
Poul Sorensen ◽  
Chris Bergstrom ◽  
G. Baker Hubbard
Keyword(s):  
Ewing Sarcoma ◽  
Primitive Neuroectodermal Tumor ◽  
Neuron Specific Enolase ◽  
Neuroectodermal Tumor ◽  
Fusion Product ◽  
Peripheral Retina ◽  
First Case ◽  
Friend Leukemia ◽  
Dense Core Granules ◽  
Round Blue Cell Tumor

An 11-year-old boy underwent enucleation of his left eye for an intraocular tumor. Examination showed a small, round blue cell tumor arising in the peripheral retina near the ciliary body. Immunohistochemical stain results were positive for neuron-specific enolase, synaptophysin, cluster of differentiation 99 (CD99), Friend leukemia integration 1, and CD56. Ultrastructural findings included occasional intracytoplasmic dense core granules. Polymerase chain reaction of the tumor showed a Ewing sarcoma/Friend leukemia integration gene fusion product. The tumor was classified as a primitive neuroectodermal tumor/Ewing sarcoma of the retina and should be distinguished from retinoblastoma. To our knowledge, this is the first case of primary primitive neuroectodermal tumor of the retina.

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

Primary Subcutaneous Primitive Neuroectodermal Tumor with Aggressive Behavior and an Unusual Karyotype: Case Report

2004 ◽  
Vol 7 (5) ◽  
pp. 538-545 ◽  
Author(s):  
Gino R. Somers ◽  
Mary Shago ◽  
Maria Zielenska ◽  
Helen S.L. Chan ◽  
Bo Y. Ngan
Keyword(s):  
Primitive Neuroectodermal Tumor ◽  
Chromosome Region ◽  
Molecular Genetic ◽  
Immunohistochemical Analysis ◽  
Neuroectodermal Tumor ◽  
Cranial Bone ◽  
Skeletal Metastases ◽  
Glial Fibrillary Acid Protein ◽  
Microscopic Features ◽  
Round Blue Cell Tumor

Primitive neuroectodermal tumor/Ewing sarcoma (PNET/ES) rarely occurs in the skin and subcutaneous tissues. We present a case of a 16-year-old girl with primary cutaneous and subcutaneous PNET/ES of the abdominal wall. Despite wide local excision and chemotherapy, she rapidly developed cranial bone and brain metastases, followed by lung and skeletal metastases, and died shortly thereafter. The recurrent tumor exhibited light microscopic features of a small, round, blue cell tumor with intracytoplasmic glycogen. Immunohistochemical analysis showed positivity for CD99, CD56, S100, and glial fibrillary acid protein, and ultrastructural features included cytoplasmic glycogen and focal complex interdigitating synaptic junction-like cytoplasmic folds. Cytogenetic analysis of the relapsed tumor showed a complex karyotype: 47,XX,i(1)(q10), der(4)t(4;19) (q33~q35;q13.1), + 8,t(15;17)(q24;p11.2~p12),der(19)t (19;20)(q13.1;p11.2),der(22)t(20;22)(q13;q13). Cytogenetic, interphase fluorescence in situ hybridization, and molecular genetic analyses failed to show t(11:22) (q24;q12) or abnormalities of chromosome region 22q12. The clinical behavior and atypical and complex cytogenetic abnormalities exhibited by the tumor in this patient are unusual and represent the most aggressive end of the clinical spectrum of cutaneous and subcutaneous PNET/ES.

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.

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