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https://www.readbyqxmd.com/read/29329131/alk-gene-fusions-in-epithelioid-fibrous-histiocytoma-a-study-of-14-cases-with-new-histopathological-findings
#1
Dmitry V Kazakov, Liubov Kyrpychova, Petr Martinek, Petr Grossmann, Petr Steiner, Tomas Vanecek, Michal Pavlovsky, Vladimir Bencik, Michael Michal, Michal Michal
Previous studies showed that ALK is often positive in epithelioid fibrous histiocytoma (EFH). Two cases of EFH with ALK gene fusions have been recorded. Our objective was to study a series of EFH to present histopathological variations of EFH, identify novel ALK gene fusions, and determine whether there is a correlation between histopathological features and particular gene. We investigated 14 cases of EFH, all ALK immunopositive. The cases were assessed histopathologically as well as for ALK and TFE-3 rearrangements using FISH and ALK gene fusions using next-generation sequencing...
January 11, 2018: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/29324470/fibroma-like-pecoma-a-tuberous-sclerosis-complex-related-lesion
#2
Ana B Larque, Richard L Kradin, Ivan Chebib, G Petur Nielsen, Martin K Selig, Elizabeth A Thiele, Anat Stemmer-Rachamimov, Miriam A Bredella, Pawel Kurzawa, Vikram Deshpande
Perivascular epithelioid cell tumor (PEComa), mesenchymal tumors morphologically characterized by epithelioid cells, coexpress melanocytic and muscle markers. Herein, we describe a heretofore-undescribed tuberous sclerosis complex (TSC)-related neoplasm, morphologically resembling a soft tissue fibroma-like lesion, but showing an immunophenotype resembling PEComa. We identified 3 soft tissue fibroma-like lesions in individuals with TSC. We also evaluated 6 TSC-related periungual fibroma as well as a range of non-TSC fibroma-like lesions (n=19)...
January 10, 2018: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29318761/suitability-of-the-cellienttm-cell-block-method-for-diagnosing-soft-tissue-and-bone-tumors
#3
W Song, B M van Hemel, A J H Suurmeijer
BACKGROUND: The diagnosis of tumors of soft tissue and bone (STB) heavily relies on histological biopsies, whereas cytology is not widely used. CellientTM cell blocks often contain small tissue fragments. In addition to Hematoxylin and Eosin (H&E) interpretation of histological features, immunohistochemistry (IHC) can be applied after optimization of protocols. The objective of this retrospective study was to see whether this cytological technique allowed us to make a precise diagnosis of STB tumors...
January 10, 2018: Diagnostic Cytopathology
https://www.readbyqxmd.com/read/29245304/computed-tomography-imaging-features-of-hepatic-perivascular-epithelioid-cell-tumor-a-case-report-and-literature-review
#4
Xu Han, Mei-Yu Sun, Jing-Hong Liu, Xiao-Yan Zhang, Meng-Yao Wang, Rui Fan, Sahrish Qamar
RATIONALE: Perivascular epithelioid cell tumor (PEComa) is a rare tumor which is most frequently found in uterus. The tumor arising from liver is extremely uncommon. PATIENT CONCERNS: A 36-year-old female with abdominal distention, cramps, and low-grade fever for over 15 days. The patient had a history of gastric adenocarcinoma with ovarian, celiac lymph nodes, and retroperitoneal lymph nodes metastases. DIAGNOSES: Computed tomography (CT) imaging demonstrated an ill-defined heterogeneous hypo-dense mass in segment 8 (S8) of the liver...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29208563/malignant-perivascular-epithelioid-cell-tumor-of-the-oropharynx-with-strong-tfe3-expression-mimicking-alveolar-soft-part-sarcoma-a-case-report-and-review-of-the-literature
#5
Karan Saluja, Jaiyeola Thomas, Songlin Zhang, Erich M Sturgis, Kunal S Jain, Victor G Prieto, Adel K El-Naggar, Diana Bell
Perivascular epithelioid cell tumors (PEComas) in the head and neck region are rare with 26 cases described in literature. These distinct mesenchymal tumors normally express both myoid and melanocytic markers. We here report an interesting and challenging case of malignant PEComa that showed transcription factor E3 (TFE3) protein expression and rearrangement, paucity of muscle and melanocytic marker expression, and morphologically mimicked as alveolar soft part sarcoma. Awareness of this morphologic pitfall and recognition TFE3 gene rearranged PEComa, as a distinct subtype of PEComa is essential to avoid misdiagnosis...
December 2, 2017: Human Pathology
https://www.readbyqxmd.com/read/29127695/management-of-the-other-retroperitoneal-sarcomas
#6
REVIEW
Piotr L Rutkowski, John T Mullen
The focus of this review is on the management of the less common sarcomas occurring in the retroperitoneal space, including solitary fibrous tumor (SFT), malignant peripheral nerve sheath tumor (MPNST), perivascular epithelioid cell tumor (PEComa), and undifferentiated pleomorphic sarcoma (UPS) of the psoas muscle. As for other retroperitoneal sarcomas, surgical resection is the mainstay of curative therapy, and multidisciplinary preoperative assessment, including percutaneous needle biopsy for histologic confirmation, is the basis for personalized management, as the surgical management, and the integration of systemic therapy and radiation therapy is unique to each histologic subtype...
November 11, 2017: Journal of Surgical Oncology
https://www.readbyqxmd.com/read/29052596/t-6-11-renal-cell-carcinoma-a-study-of-seven-cases-including-two-with-aggressive-behavior-and-utility-of-cd68-pg-m1-in-the-differential-diagnosis-with-pure-epithelioid-pecoma-epithelioid-angiomyolipoma
#7
Anna CaliĆ², Matteo Brunelli, Diego Segala, Serena Pedron, Regina Tardanico, Andrea Remo, Stefano Gobbo, Emanuela Meneghelli, Claudio Doglioni, Ondrej Hes, Claudia Zampini, Pedram Argani, Guido Martignoni
Renal cell carcinomas with t(6;11) chromosome translocation involving the TFEB gene are indolent neoplasms which often occur in young patients. In this study, we report seven cases of renal cell carcinoma with TFEB rearrangement, two of whom had histologically proven metastasis. Patients (4F, 3M) ranged in age from 19 to 55 years (mean 37). One patient developed paratracheal and pleural metastases 24 months after surgery and died of disease after 46 months; another one recurred with neoplastic nodules in the perinephric fat and pelvic soft tissue...
October 20, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/29044701/malignant-pecoma
#8
Daniela Haiges, Philipp Kurz, Helmut Laaff, Frank Meiss, Heinz Kutzner, Kristin Technau-Hafsi
No abstract text is available yet for this article.
January 2018: Journal of Cutaneous Pathology
https://www.readbyqxmd.com/read/28975043/liver-perivascular-epithelioid-cell-tumor-with-an-unusual-location-diagnostic-characteristics-with-multidetector-computed-tomography-and-magnetic-resonance-imaging
#9
Koray Hekimoglu, Murat Haberal
Primary perivascular epithelioid cell tumor (PEComa) of the liver is a very rare tumor that originates from mesenchyma. Gastrointestinal tract with perivascular distribution is the most common anatomic sites of these tumors. Only few cases of hepatic PEComa have been described so far. Malignant PEComas exhibit aggressive behavior with poor prognosis, making early diagnosis crucial. Hereby, we report a 79-year-old female with unusually located mass in the liver. A partial curative hepatectomy has been done, and PEComa was diagnosed histopathologically...
2017: Journal of Clinical Imaging Science
https://www.readbyqxmd.com/read/28969862/melanotic-mit-family-translocation-neoplasms-expanding-the-clinical-and-molecular-spectrum-of-this-unique-entity-of-tumors
#10
Rola M Saleeb, John R Srigley, Joan Sweet, Cedric Doucet, Virginie Royal, Ying-Bei Chen, Fadi Brimo, Andrew Evans
MiT family translocation tumors are a group of neoplasms characterized by translocations involving MiT family transcription factors. The translocation renal cell carcinomas, TFE3 (Xp11.2) and TFEB (t6;11) are known members of this family. Melanotic Xp11 translocation renal cancer is a more recently described entity. To date only 14 cases have been described. It is characterized by a distinct set of features including a nested epithelioid morphology, melanin pigmentation, labeling for markers of melanocytic differentiation, lack of labeling for markers of renal tubular differentiation, predominance in a younger age population and association with aggressive clinical behavior...
August 25, 2017: Pathology, Research and Practice
https://www.readbyqxmd.com/read/28905842/malignant-perivascular-epithelioid-cell-tumor-of-the-orbit-report-of-a-case-and-review-of-literature
#11
Md Shahid Alam, Bipasha Mukherjee, S Krishnakumar, Jyotirmay Biswas
Perivascular epithelioid cell tumor (PEComa) is a rare neoplasm considered to arise from myomelanocytic cell lineage. The uterus is reportedly the most common site to be involved. Orbital PEComa is extremely rare with only two cases reported till date. A 5-year-old male presented with a right medial orbital mass for the last 6 months. The patient was diagnosed with alveolar soft part sarcoma elsewhere. Magnetic resonance imaging features were suggestive of lymphangioma with bleeding. The excision biopsy revealed multiple tumor cells comprising epithelioid cells with clear cytoplasm, along with nuclear atypia and mitosis...
September 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28905497/alveolar-soft-part-sarcoma-a-case-report-with-emphasis-on-some-unusual-cytological-features
#12
Neelam Sood, Minakshi Gulia
Alveolar soft part sarcoma is a very rare, slow growing highly angiogenic tumor with poor prognosis. Most common site in children and infants is head and neck region and in adults it most commonly occurs in extremities especially thigh. In our case study, an 8 years old female patient presented with a gradually progressive left shoulder lump. FNAC from the lesion showed cellular smears with polyhedral and spindly cells showing abundant finely vacuolated cytoplasm, nuclear pleomorphism, intranuclear pseudoinclusions, and few bare nuclei...
February 2018: Diagnostic Cytopathology
https://www.readbyqxmd.com/read/28904331/angiomyolipoma-of-the-adrenal-gland-a-report-of-two-cases-and-review-of-the-literature
#13
Obin Ghimire, Li Wenzheng, Liu Huaping, Liu Wenguang, Pei Yigang, Hou Jiale
BACKGROUND Angiomyolipoma is a benign tumor composed of blood vessels, smooth muscle cells, and adipose tissue and has been described as belonging to the group of tumors of perivascular epithelioid cell origin (PEComa), commonly found in the kidneys and strongly associated with tuberous sclerosis. Only a few cases of extra-renal angiomyolipoma have previously been reported in the literature, most commonly in the liver. Adrenal angiomyolipoma is very rare, is usually asymptomatic, and is often found incidentally, with only 14 previously reported cases identified in the literature...
September 14, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28899738/angiomyomatous-hamartoma-of-lymph-nodes-revisited-clinico-pathologic-study-of-21-cases-emphasizing-its-distinction-from-lymphangioleiomyomatosis-of-lymph-nodes
#14
Michelle Moh, Ankur Sangoi, Joseph T Rabban
Angiomyomatous hamartoma of lymph nodes (AMH-LN) is an uncommon benign proliferation of smooth muscle, blood vessels, collagenous stroma and adipocytes, most commonly affecting inguinal LN. A similar constellation of cell types constitutes various members of the perivascular epithelioid cell tumor (PEComa) family, including lymphangioleiomyomatosis (LAM) which can involve LN in women. Because some LN-LAM patients have tuberous sclerosis complex (TSC) and/or other PEComa family lesions, it is clinically relevant to distinguish LN-LAM from AMH-LN...
September 9, 2017: Human Pathology
https://www.readbyqxmd.com/read/28837273/pnl2-an-adjunctive-biomarker-for-renal-angiomyolipomas-and-pecomas
#15
Previn Gulavita, Christopher D M Fletcher, Michelle S Hirsch
AIMS: Renal angiomyolipoma (AML) and perivascular epithelioid cell tumor (PEComa) are members of the microphthalmia-associated transcription factor (MiTF) family of tumors. Traditionally, HMB45 and MelanA have been used to diagnose these lesions; however, low sensitivity can render interpretation difficult. PNL2 is a sensitive and specific biomarker for epithelioid melanoma, and immunoreactivity has also been shown in small series of PEComas. This study determined the utility of PNL2 in MiTF and non-MiTF renal tumors...
August 24, 2017: Histopathology
https://www.readbyqxmd.com/read/28766950/imaging-features-of-rare-mesenychmal-liver-tumours-beyond-haemangiomas
#16
REVIEW
Rajesh Thampy, Khaled M Elsayes, Christine O Menias, Perry J Pickhardt, Hyunseon C Kang, Sandeep P Deshmukh, Kareem Ahmed, Brinda Rao Korivi
Tumours arising from mesenchymal tissue components such as vascular, fibrous and adipose tissue can manifest in the liver. Although histopathology is often necessary for definitive diagnosis, many of these lesions exhibit characteristic imaging features. The radiologist plays an important role in suggesting the diagnosis, which can direct appropriate immunohistochemical staining at histology. The aim of this review is to present clinical and imaging findings of a spectrum of mesenchymal liver tumours such as haemangioma, epithelioid haemangioendothelioma, lipoma, PEComa, angiosarcoma, inflammatory myofibroblastic tumour, solitary fibrous tumour, leiomyoma, leiomyosarcoma, Kaposi sarcoma, mesenchymal hamartoma, undifferentiated embryonal sarcoma, rhabdomyosarcoma and hepatic metastases...
November 2017: British Journal of Radiology
https://www.readbyqxmd.com/read/28755029/metastatic-malignant-pecoma-of-the-leg-with-identification-of-atrx-mutation-by-next-generation-sequencing
#17
Hussein Alnajar, Arlen Brickman, Lela Buckingham, Leonidas D Arvanitis
No abstract text is available yet for this article.
July 28, 2017: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/28733877/expanding-the-spectrum-of-colonic-manifestations-in-tuberous-sclerosis-l-cell-neuroendocrine-tumor-arising-in-the-background-of-rectal-pecoma
#18
David L Kolin, Kai Duan, Bo Ngan, J Ted Gerstle, Monika K Krzyzanowska, Gino R Somers, Ozgur Mete
Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous condition that predisposes to numerous proliferative lesions, including perivascular epithelioid cell tumors (PEComas), such as lymphangioleiomyomatosis (LAM) and angiomyolipomas, and rare neuroendocrine neoplasms. We describe herein a TSC2-harboring tuberous sclerosis patient manifesting with a synchronous well-differentiated L-cell rectal neuroendocrine tumor and leiomyomatosis-like LAM of the rectum. The background large bowel wall was thickened by confluent nodular areas comprising vessels and spindle-to-epithelioid cells, which are immunoreactive for myoid (smooth muscle actin, muscle specific actin, and desmin) and melanocytic markers (HMB45, Melan-A, microphthalmia transcription factor, and CD117)...
July 21, 2017: Endocrine Pathology
https://www.readbyqxmd.com/read/28706850/pneumothorax-caused-by-cystic-and-nodular-lung-metastases-from-a-malignant-uterine-perivascular-epithelioid-cell-tumor-pecoma
#19
Shouichi Okamoto, Moegi Komura, Yasuhisa Terao, Aiko Kurisaki-Arakawa, Takuo Hayashi, Tsuyoshi Saito, Shinsaku Togo, Akira Shiokawa, Keiko Mitani, Etsuko Kobayashi, Toshio Kumasaka, Kazuhisa Takahashi, Kuniaki Seyama
Perivascular epithelioid cell tumors (PEComas) are mesenchymal neoplasms with immunoreactivity for both melanocytic and smooth muscle markers. PEComas occur at multiple sites, and malignant PEComas can undergo metastasis, recurrence and aggressive clinical courses. Although the lung is a common metastatic site of PEComas, they usually appear as multiple nodules but rarely become cystic or cavitary. Here, we describe a female patient whose lungs manifested multiple cystic, cavity-like and nodular metastases 3 years after the resection of uterine tumors tentatively diagnosed as epithelioid smooth muscle tumors with uncertain malignant potential...
2017: Respiratory Medicine Case Reports
https://www.readbyqxmd.com/read/28697195/fluorine-18-fdg-pet-ct-in-a-patient-with-angiomyolipoma-response-to-mammalian-target-of-rapamycin-inhibitor-therapy
#20
Hoda Anwar, Christos Sachpekidis, Matthias Schwarzbach, Antonia Dimitrakopoulou-Strauss
We report on a 27 years old female patient who was referred to our department for whole-body as well as dynamic positron emission tomography/computed tomography (dPET/CT) scan of the upper and middle abdomen with fluorine-18-fluorodeoxy glucose ((18)F-FDG), for further evaluation of a mass in the left adrenal gland region. Positron emission tomography showed a suspicious, enlarged, hypermetabolic mass with an average standardized uptake value (SUV) of 4.5 and a maximum SUV of 5.9. The patient was referred for biopsy, which revealed an angiomyolipoma, a perivascular epithelioid cell tumor (PEComa) of the adrenal gland...
May 2017: Hellenic Journal of Nuclear Medicine
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