scholarly journals Cytologic Features of SMARCA4-Deficient Thoracic Sarcoma: A Case Report and Comparison with Other SWI/SNF Complex-Deficient Tumors

2018 ◽  
Vol 62 (5-6) ◽  
pp. 456-462 ◽  
Author(s):  
Michiko Matsushita ◽  
Satoshi Kuwamoto

Background: SMARCA4-deficient thoracic sarcoma is a recently proposed entity of soft tissue tumors associated with an extremely poor prognosis. Its cytologic features have not been well described in the literature yet. Case: A woman in her early 30s who presented with chest pain was found to have a tumor in the right chest wall. Cytologic smears revealed numerous atypical round-to-polygonal cells appearing singly or in loosely cohesive clusters. These cells had a well-defined cell border, scant-to-moderate cytoplasm, and enlarged vesicular nuclei with prominent nucleoli. In addition, some cells with eosinophilic globular intracytoplasmic inclusions and eccentrically located nuclei, consistent with rhabdoid cells, were observed. Immunocytochemically, the cells were at least focally positive for cytokeratin CAM5.2 and CD34 and showed a significantly reduced BRG1/SMARCA4 expression. The diagnosis was confirmed by histological, immunohistochemical, and genetic analysis of a metastatic lesion to the left axillary lymph node. Conclusion: Although the cytologic features of SMARCA4-deficient thoracic sarcoma are not fully unique, they are sufficiently characteristic to suspect this tumor in cases of supporting clinical and radiological features, which may promote additional immunological or molecular testing to establish a definitive diagnosis.

2019 ◽  
Vol 4 (1) ◽  
pp. 58
Author(s):  
Aimi Fadilah Mohamad ◽  
Fatimah Zaherah Mohamed Shah ◽  
Nur Aisyah Zainordin ◽  
Ur 'Aini Eddy Warman ◽  
Nazimah Ab Mumin ◽  
...  

Primary aldosteronism (PA) causes a persistently elevated blood pressure (BP) due to excessive release of the hormone aldosterone from the adrenal glands. Classically, it is called Conn’s syndrome and is described as the triad of hypertension and hypokalemia with the presence of unilateral adrenal adenoma. It can be cured with surgical resection of the aldosterone-secreting adenoma leading to resolution of hypertension, hypokalemia and increased cardiovascular risk associated with hyperaldosteronism. We present a case of a man with previous ischemic heart disease (IHD) who presented with resistant hypertension. Investigations for secondary causes of hypertension revealed an elevated aldosterone level and saline suppression test confirmed the diagnosis of PA. Radiological examination revealed a left adrenal adenoma and a normal right adrenal gland. However, adrenal venous sampling showed lateralization of aldosterone secretion towards the right. He subsequently underwent a laparoscopic right adrenalectomy which improved his BP control promptly. This case highlights the importance of recognizing the need to investigate for secondary causes of hypertension. It also underscores the importance of dynamic tests, which may not be easily accessible to most clinicians but should pursue, to allow a definitive diagnosis and effective treatment.


2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Hideki Nagano ◽  
Tamotsu Togawa ◽  
Takeshi Watanabe ◽  
Kenji Ohnishi ◽  
Toshihisa Kimura ◽  
...  

Abstract Background Heterotopic ossification (HO) is the formation of osseous tissue outside the skeleton. HO in malignant tumors of the digestive tract is extremely rare, as is ossification in metastatic lesions from HO-negative digestive tract tumors. Regarding the pathogenesis of HO, two theories have been proposed. The first is that the osteoblastic metaplasia of tumor cells (driven by the epithelial-mesenchymal transition, EMT) results in HO, and the second is that factors secreted by cancer cells lead to the metaplasia of stromal pluripotent cells into osteoblasts. However, the osteogenic mechanisms remain unclear. Case presentation An 83-year-old Japanese woman underwent low anterior rectal resection for rectal cancer before presentation at our institution, in June 2018. The final diagnosis was stage IIB rectal adenocarcinoma (T4aN0M0). Histological examination did not reveal HO in the primary tumor. Thirteen months after the operation, a solitary metastatic lesion in the brain 20 mm in size and a solitary metastatic lesion in a right axillary lymph node 20 mm in size were diagnosed. The patient was treated with gamma-knife therapy for the brain metastasis. One month later, she was referred to our institution. She underwent lymph node resection. Histological examination revealed that most portions of the affected lymph node were occupied by metastatic tumor cells and that central necrosis and four small ossified lesions without an osteoblast-like cell rim were present in the peripheral region. Immunohistochemical analysis showed tumor cells positive for BMP-2, osteonectin, osteocalcin, AE1/AE3, TGF-β1, Gli2, Smad2/3, and CDX2 and negative for nestin, CD56, and CK7. Conclusion This is the first English case report of HO in a metachronous metastatic lymph node after the curative resection of HO-negative rectal cancer. Unlike HO lesions in past reports, the HO lesion did not show peripheral osteoblast-like cells, and the immunohistochemical findings indicated that the present case resulted from the EMT.


2021 ◽  
pp. 604-609
Author(s):  
Rika Kouhashi ◽  
Shinichiro Kashiwagi ◽  
Yuka Asano ◽  
Tamami Morisaki ◽  
Sae Ishihara ◽  
...  

Angiosarcoma is a malignant mesenchymal tumor characterized by the presence of vascular endothelial cells. Although rare, angiosarcoma developing in the mammary glands has a poor prognosis. We report a case of breast angiosarcoma with a preoperative diagnosis of late recurrence of breast cancer. A 78-year-old woman noticed a tumor in her right breast and visited our hospital. The patient had undergone breast-conserving surgery and axillary lymph node dissection from the right breast 12 years before the visit. The tumor was diagnosed as T4bN0M0, stage IIIB. Anastrozole was administered as postoperative adjuvant therapy for 5 years; the patient also received 50-Gy whole-breast radiation therapy after surgery. Physical examination during her visit revealed an elevated lesion with blue purpura around the nipple in the right breast. We performed breast ultrasound and detected a well-defined 19.6 × 16.4 × 10.7 mm hypoechoic tumor in the left subareolar area. The patient underwent core needle biopsy (CNB). Based on the CNB specimen findings, she was suspected to experience late local recurrence after surgery. Therefore, she underwent total mastectomy after breast-conserving surgery. A dark-red tumor sized 18 × 12 mm was found in a specimen from the nipple. The pathological diagnosis of the specimen revealed short spindle-shaped tumor cells with strong nuclear pleomorphism and a significant interstitial fibrosis. Immunohistochemistry using D2-40 and CD31 antibodies showed irregular luminal proliferation at the anastomosis, infiltration into the surrounding tissue, and massive necrosis, thereby leading to the diagnosis of breast angiosarcoma. We have reported a case of breast angiosarcoma with a preoperative diagnosis of late recurrence of breast cancer.


2015 ◽  
Vol 2015 ◽  
pp. 1-3 ◽  
Author(s):  
Tapan Kumar Sahoo ◽  
Saroj Kumar Das ◽  
Chandraprava Mishra ◽  
Ipsita Dhal ◽  
Rohani Nayak ◽  
...  

Primary squamous cell carcinoma of the renal parenchyma is an extremely rare entity. The diagnosis of squamous cell carcinoma of the renal pelvis is usually unsuspected due to the rarity and inconclusive clinical and radiological features. Most of the patients are diagnosed at an advanced stage and are with poor outcome. Radical nephrectomy is the mainstay of the treatment. We reported a case of squamous cell carcinoma of the kidney in a 50-year-old female who presented with the right sided abdomen pain. The patient was treated with radical nephrectomy.


2016 ◽  
Vol 30 (1) ◽  
pp. 88-91 ◽  
Author(s):  
Alfredo Di Gaeta ◽  
Francesco Giurazza ◽  
Eugenio Capobianco ◽  
Alvaro Diano ◽  
Mario Muto

To identify and localize an intraorbital wooden foreign body is often a challenging radiological issue; delayed diagnosis can lead to serious adverse complications. Preliminary radiographic interpretations are often integrated with computed tomography and magnetic resonance, which play a crucial role in reaching the correct definitive diagnosis. We report on a 40 years old male complaining of pain in the right orbit referred to our hospital for evaluation of eyeball pain and double vision with an unclear clinical history. Computed tomography and magnetic resonance scans supposed the presence of an abscess caused by a foreign intraorbital body, confirmed by surgical findings.


Hand Surgery ◽  
2001 ◽  
Vol 06 (02) ◽  
pp. 239-242 ◽  
Author(s):  
H. C. Chang ◽  
K. H. Lew ◽  
C. O. Low

Metastatic tumours of the hand are uncommon. The majority of these tumours affect the phalanges and the primary tumours are usually bronchogenic in origin, with breast and kidney tumours next in frequency. Metastatic gastrointestinal to the hand is rare and usually from the colon. We report a case of poorly differentiated adenocarcinoma of the stomach antrum presenting with a metastatic lesion to the right 4th metacarpal bone. A review of the literature is included.


2011 ◽  
Vol 135 (1) ◽  
pp. 67-82 ◽  
Author(s):  
Anne Igbokwe ◽  
Dolores H. Lopez-Terrada

Abstract Context—Molecular testing of solid tumors is steadily becoming a vital component of the contemporary anatomic pathologist's armamentarium. These sensitive and specific ancillary tools are useful for confirming ambiguous diagnoses suspected by light microscopy and for guiding therapeutic decisions, assessing prognosis, and monitoring patients for residual neoplastic disease after therapy. Objective—To review current molecular biomarkers and tumor-specific assays most useful in solid tumor testing, specifically of breast, colon, lung, thyroid, and soft tissue tumors, malignant melanoma, and tumors of unknown origin. A few upcoming molecular diagnostic assays that may become standard of care in the near future will also be discussed. Data Sources—Original research articles, review articles, and the authors' personal practice experience. Conclusions—Molecular testing in anatomic pathology is firmly established and will continue to gain ground as the need for more specific diagnoses and new targeted therapies evolve. Knowledge of the more common and clinically relevant molecular tests available for solid tumor diagnosis and management, and their indications and limitations, is necessary if anatomic pathologists are to optimally use these tests and act as consultants for fellow clinicians directly involved in patient care.


2021 ◽  
Vol 3 (9) ◽  
Author(s):  
Isra Halim ◽  
Prathyusha Kokkayil ◽  
Ravi Kirti ◽  
Rajeev Nayan Priyadarshi ◽  
Asim Sarfraz ◽  
...  

Melioidosis, a disease with protean clinical manifestations, is prevalent in many parts of India, with established endemic hotspots on the southern coast of the country. However, it is still underdiagnosed in many resource-poor regions of the country. We report what is, to the best of our knowledge, the first case of melioidosis diagnosed and treated in Bihar, an economically underdeveloped state in East India. The patient, a 52-year-old diabetic male, presented to the outpatient department with a fever of insidious onset along with pain and restriction of movement in the right shoulder joint and right knee joint, and swelling and tenderness of bilateral ankle joints. Radiological features were suggestive of multiple joint and organ abscesses. A diagnosis of disseminated septicaemic melioidosis was confirmed microbiologically. The patient improved clinically following aggressive treatment with meropenem and cotrimoxazole. The case highlights the need for increased clinical suspicion of melioidosis and adequate diagnostic facilities, as well as the need for early institution of appropriate empirical antibiotics in suspected cases of melioidosis in this region of the world.


2021 ◽  
Vol 2021 ◽  
pp. 1-3
Author(s):  
Ankita Sarawagi ◽  
Jessica Maxwell

Background. A female patient was diagnosed with a right-sided chyle leak following right skin sparing mastectomy, axillary lymph node dissection, and immediate tissue expander placement in the setting of invasive ductal carcinoma status post neoadjuvant chemotherapy. Summary. Our patient underwent a level I and II right axillary lymph node dissection followed by an axillary drain placement. On the first postoperative day, a change from serosanguinous to milky fluid in this drain was noted. The patient was diagnosed with a chyle leak based on the milky appearance and elevated triglyceride levels in the fluid. While chyle leaks are rare after an axillary dissection and even rarer to present on the right side, it is a complication of which breast surgeons should be aware. The cause of this complication is thought to be due to injury of the main thoracic duct, its branches, the subclavian duct, or its tributaries. Management is usually conservative; however, awareness of this potential complication even on the right side is of the utmost importance Conclusion. Chyle leaks are an uncommon complication of axillary node dissections and even rarer for them to present on the right side. It can be diagnosed by monitoring the drainage for changes in appearance and volume and by conducting supporting laboratory tests. Conservative management is generally suggested.


2004 ◽  
Vol 128 (6) ◽  
pp. 686-688
Author(s):  
Jared J. Abbott ◽  
Robin H. Amirkhan ◽  
Mai P. Hoang

Abstract Malignant melanoma is known to display tremendous histologic diversity. One rare variant is the rhabdoid phenotype, so called because of the appearance of cells resembling rhabdomyoblasts seen in malignant rhabdoid tumors of the kidney. We present the histologic, immunohistochemical, and ultrastructural features of a malignant melanoma composed entirely of rhabdoid cells. A 62-year-old man presented with a 6.5-cm lung mass. Although presumed to be a metastatic lesion, extensive workup failed to reveal a primary tumor site. Histologic sections showed a mass composed entirely of polygonal neoplastic cells with prominent nucleoli and large hyaline cytoplasmic inclusions. The tumor cells were strongly immunoreactive with S100 protein, vimentin, and CD56, and were focally reactive with Mart-1. Tumor cells were negative for Melan-A, tyrosinase, HMB-45, AE1/AE3, cytokeratin (CK) 7, CK8/ 18, CK20, CK903, CAM 5.2, epithelial membrane antigen, smooth muscle actin, desmin, leukocyte common antigen, Bcl-2, CD3, CD20, CD30, CD138, κ and λ light chains, CD68, CD34, factor VIII, synaptophysin, and glial fibrillary acidic protein. Electron microscopy showed cytoplasmic whorls of intermediate filaments containing entrapped rough endoplasmic reticulum, mitochondria, and lipid. Recognition of this rare variant of malignant melanoma is important in the evaluation of tumors with rhabdoid morphology.


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