scholarly journals TFE3 Associated Perivascular Epithelioid Cell Tumor with Complete Response to mTOR Inhibitor Therapy: Report of First Case and Literature Review

2021 ◽  
Author(s):  
ROLI PURWAR ◽  
Kishan Soni ◽  
Mridula Shukla ◽  
Ashish Verma ◽  
Tarun Kumar ◽  
...  
Keyword(s):  
Mtor Inhibitor ◽  
Smooth Muscle Actin ◽  
Abdominal Mass ◽  
Fibrous Tissue ◽  
Complete Response ◽  
Cell Tumor ◽  
Inhibitor Therapy ◽  
First Case ◽  
New Variant ◽  
Hmb 45

Abstract Background: Perivascular epitheloid cell tumor (PEComas) are characterised by expression of both muscles, most often smooth muscle actin (in ~80% of cases) and melanocytic markers (mainly HMB-45 and Melan A). TFE 3 associated PEComas are new variant which are poorly defined due to their limited reports in literature. These tumors lack response to targeted mTOR inhibitor therapy due to lack of mutation in TSC gene. Hereby we are reporting a case of TFE3 associated pelvic PEComa showing excellent response to Everolimus. Case presentation: A 45-year-old female presented with complaint of abdominal mass and bleeding per vaginum for 4 months. She had a history of total abdominal hysterectomy 3 years back in view of abnormal uterine bleeding and exploratory laprotomy 7 months back to remove some pelvic mass. Imaging suggested of ill-defined heterogenous mass of 9.3 x 9.2 x 16 cm involving uterus, cervix and upper 1/3 vagina. Multiple omental and peritoneal deposits were also seen, making probable diagnosis of carcinoma endometrium. USG guided biopsy showed cores of fibrous tissue with presence of cells in sheets with granular eosinophillic cytoplasm, IHC showed positivity for TFE -3, H Caldesmon, GATA-3, Melan A-and HMB-45, Ki 67 index was 35%. On the basis of above diagnosis of PEComa was made and she was started on Everolimus, repeat imaging after 3 months of therapy, showed complete response.Conclusion: We are reporting first case of malignant pelvic TFE 3 PEComa showing response to mTOR therapy. Identification of TFE 3 PEComa is important because they showed different biologic behaviour then their conventional PEComa.

Gastric Perivascular Epithelioid Cell Tumor (PEComa)

2019 ◽  
Vol 152 (2) ◽  
pp. 221-229 ◽  
Author(s):  
Jinghong Xu ◽  
Yu Yan ◽  
Xueping Xiang ◽  
Peter Jiang ◽  
Xiangrong Hu ◽  
...  
Keyword(s):  
Gene Rearrangement ◽  
Smooth Muscle Actin ◽  
Epithelioid Cell ◽  
Cell Tumor ◽  
Perivascular Epithelioid Cell Tumor ◽  
Rare Neoplasm ◽  
Perivascular Epithelioid Cell ◽  
Molecular Features ◽  
First Case

Abstract Objectives To review the clinicopathologic, immunophenotypic, and molecular features of gastric perivascular epithelioid cell tumor (PEComa). Methods We identified two new cases of gastric PEComa and summarized the clinical and pathologic characteristics of this rare neoplasm. Results The first case was a 48-year-old woman who was treated with an endoscopic submucosal dissection (ESD), and the second case was a 64-year-old man who received a distal gastrectomy. Microscopic examination showed one tumor was composed of purely epithelioid cells, while the other was composed of epithelioid and spindle cells. Both tumors were immunoreactive for melanocytic markers (HMB45 and Melan-A), smooth muscle actin, and vimentin. No TFE3 gene rearrangement was identified by fluorescence in situ hybridization in either case. Conclusions Gastric PEComa is an exceedingly rare neoplasm, with only seven other reported cases to date. We are the first to report the results of molecular assays for the TFE3 gene rearrangement associated with gastric PEComa.

The case of prenatal diagnosis of a germ cell tumor of the fetal ovary

2018 ◽  
Author(s):  
N.N. Bondarenko, E.Yu. Andreeva , N.B. Filippova
Keyword(s):  
Germ Cell ◽  
Germ Cell Tumor ◽  
Ovarian Tumor ◽  
Ultrasound Examination ◽  
Abdominal Mass ◽  
Abdominal Cavity ◽  
Cell Tumor ◽  
Fetal Ovary ◽  
Entire Abdominal Cavity ◽  
Spontaneous Delivery

A case of prenatal ultrasound diagnosis of a rare congenital ovarian tumor is presented. By ultrasound examination at 36–37 weeks of gestation the intra-abdominal mass 66  47  74 mm occupying the entire abdominal cavity was discovered. At 38 weeks of pregnancy spontaneous delivery occurred with girl weight 2840 g. On the eighth day after birth the child has been successfully undergone surgery. Histological examination revealed congenital germ-cell tumor with structures of dysgerminoma and yolk sac tumor.

scholarly journals Preoperatively diagnosed gastric collision tumor with mixed adenocarcinoma and gastrointestinal stromal tumor: a case report and literature review

2021 ◽  
Author(s):  
Kunihiko Matsuno ◽  
Yoshikazu Kanazawa ◽  
Daisuke Kakinuma ◽  
Nobutoshi Hagiwara ◽  
Fumihiko Ando ◽  
...  
Keyword(s):  
Gastrointestinal Stromal Tumor ◽  
Distal Gastrectomy ◽  
Submucosal Tumor ◽  
Smooth Muscle Actin ◽  
Collision Tumor ◽  
Stromal Tumor ◽  
Lower Body ◽  
Muscle Actin ◽  
First Case ◽  
S 100

AbstractReports of gastric collision tumors, comprising adenocarcinoma and gastrointestinal stromal tumor, are extremely rare. Here, we report the case of a 68-year-old male who was diagnosed with a lower-body, moderately differentiated, tubular-type adenocarcinoma and submucosal tumor and underwent an elective D2 distal gastrectomy. The tumor cells of the gastrointestinal stromal tumor were positive for H-caldesmon and CD117, weakly positive for smooth muscle actin and DOG-1, and negative for desmin, S-100 protein, CD31, and AE1/AE3. The tumor had grown into a mixed form of adenocarcinoma and gastrointestinal stromal tumor. Thus, we report the first case of a preoperatively diagnosed collision tumor in the stomach consisting of adenocarcinoma and gastrointestinal stromal tumor.

Successful Multimodality Management of Atypical Teratoid/Rhabdoid Tumour of the Lower Dorsal Spine with Spinal Drop Metastasis: Illustrated Review

2021 ◽  
pp. 1-13
Author(s):  
Ahitagni Biswas ◽  
Umesh Velu ◽  
Seema Sharma ◽  
Kalpana Kumari ◽  
Mehar Chand Sharma ◽  
...  
Keyword(s):  
Smooth Muscle Actin ◽  
Primary Tumour ◽  
Complete Response ◽  
Malignant Cell ◽  
Conus Medullaris ◽  
Successful Outcome ◽  
Rhabdoid Tumour ◽  
Drop Metastasis ◽  
Atypical Teratoid ◽  
Atypical Teratoid Rhabdoid Tumour

<b><i>Introduction:</i></b> Spinal atypical teratoid/rhabdoid tumour (AT/RT) is exquisitely rare and constitutes 2% of all AT/RTs. <b><i>Case Presentation:</i></b> A 6-year-old boy presented with low backache for the last 5 months. MRI of the spine showed a 1.5 × 1.5 × 4.7 cm intradural extramedullary mass extending from D10 to D12, causing compression of the conus medullaris. With a preoperative diagnosis of ependymoma, a gross total resection (GTR) of tumour was performed. Post-operative histopathology showed AT/RT. The tumour cells were immunopositive for cytokeratin, epithelial membrane antigen, smooth muscle actin, and p53 and immunonegative for MIC2, desmin, glial fibrillary acidic protein, and INI1. Post-operative neuraxis MRI revealed post-operative changes (D10–D12) with a 9 mm enhancing lesion at L5-S1 junction suggesting drop metastasis. There was no lesion in brain. Cerebrospinal fluid cytology did not show any malignant cell. The metastatic work-up was normal. He received 3 cycles of chemotherapy with ICE regimen (ifosfamide, carboplatin, and etoposide). Subsequently, he received craniospinal irradiation (CSI)-36 Gy/20 fractions/4 weeks followed by focal boost to primary tumour bed and spinal drop metastasis-14.4 Gy/8 fractions/1.5 weeks. Thereafter, he received 3 more cycles of ICE regimen. End-of-treatment MRI spine showed post-op changes (D10–D12) and 38.9% reduction of the L5-S1 lesion suggesting partial response. Six monthly spinal MRI showed serial reduction of the metastatic lesion leading to complete response (CR) 1 year after completion of treatment. On last follow-up (30 months from the initial diagnosis), he was neurologically intact and in CR. <b><i>Conclusion:</i></b> Multimodality management comprising GTR of tumour, CSI followed by focal boost, and multiagent chemotherapy (ICE) can lead to successful outcome in patients with this rare and aggressive spinal tumour.

scholarly journals Large intraperitoneal lipoleiomyoma in a pre-menopausal woman: a case report

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Sara L. Schaefer ◽  
Amy L. Strong ◽  
Sheena Bahroloomi ◽  
Jichang Han ◽  
Michella K. Whisman ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Smooth Muscle ◽  
Case Report ◽  
Smooth Muscle Actin ◽  
Abdominal Mass ◽  
Histopathological Analysis ◽  
Menopausal Woman ◽  
En Bloc ◽  
Cross Sectional

Abstract Background Lipoleiomyoma is a rare, benign variant of the commonplace uterine leiomyoma. Unlike leiomyoma, these tumors are composed of smooth muscle cells admixed with mature adipose tissue. While rare, they are most frequently identified in the uterus, but even more infrequently have been described in extrauterine locations. Case presentation We describe a case report of a 45-year-old woman with a history of in vitro fertilization pregnancy presenting 6 years later with abdominal distention and weight loss found to have a 30-cm intra-abdominal lipoleiomyoma. While cross-sectional imaging can narrow the differential diagnosis, histopathological analysis with stains positive for smooth muscle actin, desmin, and estrogen receptor, but negative for HMB-45 confirms the diagnosis of lipoleiomyoma. The large encapsulated tumor was resected en bloc. The patients post-operative course was uneventful and her symptoms resolved. Conclusions Lipoleiomyoma should be considered on the differential diagnosis in a woman with a large intra-abdominal mass. While considered benign, resection should be considered if the mass is symptomatic, and the diagnosis is unclear or there is a concern for malignancy.

scholarly journals Fetus in fetu: two case reports from North African country

2021 ◽  
Vol 69 (1) ◽  
Author(s):  
Moutaz Ragab ◽  
Omar Nagy Abdelhakeem ◽  
Omar Mansour ◽  
Mai Gad ◽  
Hesham Anwar Hussein
Keyword(s):  
Histopathological Examination ◽  
Case Reports ◽  
Abdominal Mass ◽  
Mature Teratoma ◽  
Surgical Techniques ◽  
Rare Condition ◽  
Mass Effect ◽  
Fetus In Fetu ◽  
Vascular Connection ◽  
First Case

Abstract Background Fetus in fetu is a rare congenital anomaly. The exact etiology is unclear; one of the mostly accepted theories is the occurrence of an embryological insult occurring in a diamniotic monochorionic twin leading to asymmetrical division of the blastocyst mass. Commonly, they present in the infancy with clinical picture related to their mass effect. About 80% of cases are in the abdomen retroperitoneally. Case presentation We present two cases of this rare condition. The first case was for a 10-year-old girl that presented with anemia and abdominal mass, while the second case was for a 4-month-old boy that was diagnosed antenatally by ultrasound. Both cases had vertebrae, recognizable fetal organs, and skin coverage. Both had a distinct sac. The second case had a vascular connection with the host arising from the superior mesenteric artery. Both cases were intra-abdominal and showed normal levels of alpha-fetoprotein. Histopathological examination revealed elements from the three germ layers without any evidence of immature cells ruling out teratoma as a differential diagnosis. Conclusions Owing to its rarity, fetus in fetu requires a high degree of suspicion and meticulous surgical techniques to avoid either injury of the adjacent vital structures or bleeding from the main blood supply connection to the host. It should be differentiated from mature teratoma.

scholarly journals Multiple recurrence of granulosa cell tumor of the ovary: A case report and literature review

2016 ◽  
Author(s):  
Varkha Chandra ◽  
Sandhya Jain ◽  
Neerja Goel ◽  
Bindia Gupta ◽  
Shalini Rajaram
Keyword(s):  
Case Report ◽  
Granulosa Cell ◽  
Adnexal Mass ◽  
Malignant Tumors ◽  
Abdominal Mass ◽  
Pelvic Mass ◽  
Granulosa Cell Tumor ◽  
Cell Tumor ◽  
Surgical Staging ◽  
Granulosa Cell Tumors

Introduction: Granulosa cell tumors comprise approximately 5% of all ovarian malignancy and account for 70% of malignant sex cord stromal tumors. Granulosa cell tumors have been diagnosed from infancy, the peak incidence being perimenopausal age. The potential of malignancy of these tumors is low, recurrences are often late and found in 10-33% of cases. Case Report: A 32-year-old P1L1 presented with large abdominal mass for which she underwent staging laparotomy with debulking surgery. She was a known case of granulosa cell tumor in the past and had undergone three laparotomies, along with chemotherapy. At the age of 13 yrs, she was diagnosed with a stage IA granulosa cell tumor (GCT) of the ovary first time. She underwent surgical staging and removal of left sided adnexal mass, after which she was asymptomatic for 7 years. In 2003 she again presented with lump abdomen for which she underwent resection of adnexal mass, histopathology was consistent with recurrent GCT. After second surgery she also received two cycles of chemotherapy. Despite adjuvant chemotherapy, patient presented again after three years in 2006 with adnexal mass and was found to have a third recurrence. At that time, she received 6 cycles of chemotherapy and the mass regressed. Meanwhile she got married and had one child. After four year in 2010 she again presented with lump abdomen and she underwent surgical staging, total abdominal hysterectomy with right salphingo ophorectomy along with removal of mass. After five year in 2015 she again presented with lump abdomen; there was a large pelvic mass which was removed and patient referred for chemotherapy. Discussion: GCTS which a rare malignant tumors of ovary tend to be associated with late recurrences. Although most recurrences occurs within 10 years after initial diagnosis, there are occasional reports of recurrences after10 years. We experienced the rare case of a patient who relapsed multiple times over 20 years, despite surgical and targeted treatment. Conclusion: The long history of granulosa cell tumor highlights the importance of extended follow up of the patient.

scholarly journals Metastatic Parotid Myoepithelial Carcinoma in a 7-Year-Old Boy

2012 ◽  
Vol 2012 ◽  
pp. 1-4
Author(s):  
Issam Saliba ◽  
Nazir El Khatib ◽  
Antoine Nehme ◽  
Selim Nasser ◽  
Nabil Moukarzel
Keyword(s):  
Parotid Gland ◽  
Facial Nerve ◽  
Smooth Muscle Actin ◽  
Postoperative Radiotherapy ◽  
Lumbar Vertebra ◽  
Myoepithelial Carcinoma ◽  
Cervical Lymph Nodes ◽  
Immunohistochemical Markers ◽  
First Case ◽  
Rare Malignancy

Myoepithelial carcinoma is a rare malignancy of the parotid gland that is usually seen in adults. We report the first case in children of myoepithelial carcinoma of the parotid gland with massive invasion of the facial nerve and metastasis to cervical lymph nodes. Due to its rarity, the treatment and the clinical course of this tumor are not well defined yet. We performed a total parotidectomy, a modified neck dissection, and a postoperative radiotherapy in 7-year-old boy. Sparing of the facial nerve was impossible; it was sacrificed and grafted with a sural nerve. Histopathology confirmed the diagnosis of a parotid gland carcinoma and immunohistochemical markers showed that the tumor cells express cytokeratin, epithelial membrane antigen, cytokeratin 7, smooth muscle actin, P63, CEA, and S100. This pattern of immunostaining is consistent with the diagnosis of myoepithelial carcinoma. On the postoperative tenth month he presented with a pulmonary and lumbar vertebra metastasis.

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