SMARCA4-Deficient Thoracic Sarcoma: A Case Report and Review of Literature

2019 ◽  
Vol 28 (1) ◽  
pp. 102-108 ◽  
Author(s):  
Brian D. Stewart ◽  
Frederic Kaye ◽  
Tiago Machuca ◽  
Hiren J. Mehta ◽  
Tan-Lucien Mohammed ◽  
...  
Keyword(s):  
Genetic Alterations ◽  
Care Physician ◽  
Smoking History ◽  
Review Of Literature ◽  
Heavy Smoking ◽  
Pulmonary Parenchyma ◽  
Poorly Differentiated ◽  
The Right ◽  
Time Of Presentation ◽  
Generation Sequencing

SMARCA4-deficient thoracic sarcoma (SMARCA4-DTS) is a recently described entity with a poor prognosis that is defined by certain genetic alterations in the BAF chromatin remodeling complex, specifically SMARCA4 and SMARCA2. We present a case of a SMARCA4-DTS in a 59 year-old male with a heavy smoking history who was found to have an unexpected right upper lobe lung mass on routine chest radiograph after a visit to his primary care physician. This led to a biopsy with a diagnosis of poorly differentiated carcinoma at an outside institution. The patient was subsequently seen at our facility for surgical intervention. The right upper lobectomy contained a 7.2-cm poorly differentiated malignancy with slightly discohesive cells arranged in sheets and nests, abundant geographic necrosis, and with many areas showing rhabdoid morphology. The tumor was focally reactive for CK7, AE1/3, Cam5.2, and SALL4 and showed scattered reactivity for CD34 and SOX2. There was complete loss of reactivity for both SMARCA4 and SMARCA2. The histology and immunophenotype were all consistent with the diagnosis of a SMARCA4-DTS. Next-generation sequencing showed a frameshift mutation in the SMARCA4 gene and no abnormality with the SMARCA2 gene. Interestingly, this tumor was confined to the pulmonary parenchyma with no invasion of the visceral pleura nor the mediastinum and with no clinically apparent metastases at the time of presentation. This case is presented to add to the cohort of cases described to date and to discuss the immunohistochemical and molecular findings with regard to SMARCA2.

Double primary malignant tumor in a centenarian female: Case report and review of literature

2019 ◽  
Vol 11 (2) ◽  
pp. 223-226
Author(s):  
Ankur K Shrivastava ◽  
Siddhartha Nanda
Keyword(s):  
Cell Carcinoma ◽  
Malignant Tumor ◽  
Review Of Literature ◽  
Upper Eyelid ◽  
Primary Malignant Tumor ◽  
Female Case ◽  
Multiple Primary ◽  
Poorly Differentiated ◽  
Time Gap ◽  
The Right

A hundred and three year old female patient was evaluated for ulcer over the nasion area and a mass arising from the right upper eyelid, appearing two months apart. Histopathology revealed nasion ulcer as basal cell carcinoma while right eyelid mass was diagnosed as poorly differentiated squamous cell carcinoma. Based on these findings and the time gap between two lesions a diagnosis of synchronous double primary malignant tumor was made. Although the prevalence of multiple primary malignant tumor is highest in breast, colo-rectum and prostate cancer we report a rare case of double primary malignant tumor of the eyelid and nasion in a centenarian female.

scholarly journals Metastatic pulmonary adenocarcinoma to the nasopharynx at first clinical presentation: A case report and review of literature

2020 ◽  
Vol 8 ◽  
pp. 2050313X2093982
Author(s):  
Shahad Iqneibi ◽  
Jamil Nazzal ◽  
Runa Amoudi ◽  
Basma Owda ◽  
Akram Al-Ibraheem ◽  
...  
Keyword(s):  
Left Lung ◽  
Cancer Control ◽  
Metastatic Carcinoma ◽  
Pulmonary Adenocarcinoma ◽  
Review Of Literature ◽  
Thyroid Transcription Factor 1 ◽  
Positron Emission ◽  
Recurrent Epistaxis ◽  
Poorly Differentiated ◽  
The Right

Metastatic carcinomas in the nasopharynx are a rarity. We report a case of a 54-year-old male patient who presented with a history of recurrent epistaxis. On evaluation, a mass in the right Rosenmüller fossa was detected, which was biopsied and diagnosed as a poorly differentiated adenocarcinoma, immunoreactive for thyroid transcription factor-1, consistent with metastatic pulmonary adenocarcinoma. Fluorodeoxyglucose–positron emission tomography/computed tomography (FDG-PET/CT) scan confirmed the presence of a mass in the upper lobe of the left lung, proven pathologically to be a poorly differentiated pulmonary adenocarcinoma, with an immunoprofile similar to the nasopharyngeal tumor. The patient underwent palliative chemotherapy, and was then shifted to immunotherapy. He is currently alive and disease free 50 months after the initial diagnosis was made. The unusual presentation of a metastatic carcinoma in the nasopharynx will be discussed, along with a review of literature. The role of immunotherapy in cancer control and greater longevity will also be presented.

scholarly journals Targeted Next-Generation Sequencing Analysis for Recurrence in Early-Stage Lung Adenocarcinoma

2020 ◽  
Author(s):  
In Ae Kim ◽  
Jae Young Hur ◽  
Hee Joung Kim ◽  
Jung Hoon Park ◽  
Jae Joon Hwang ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Lung Adenocarcinoma ◽  
Egfr Mutation ◽  
Early Stage ◽  
Genetic Alterations ◽  
Smoking History ◽  
Next Generation ◽  
Targeted Next Generation Sequencing ◽  
Targeted Ngs ◽  
Generation Sequencing

Abstract Background Despite surgical resection, early lung adenocarcinoma has a recurrence rate of 20–50%. No clear predictive markers for recurrence of early lung adenocarcinoma are available. Targeted next-generation sequencing (NGS) is rarely used to identify recurrence-related genes. We aimed to identify genetic alterations that can predict recurrence, by comparing the molecular profiles of patient groups with and without recurrence. Methods Tissues from 230 patients with resected stage I–II lung adenocarcinoma (median follow-up: 49 months) were analyzed via targeted NGS for 207 cancer-related genes. The recurrence-free survival according to the number and type of mutation was estimated using the Kaplan–Meier method. Independent predictive biomarkers related to recurrence were identified using the Cox proportional hazards model. Results Recurrence was observed in 64 patients (27.8%). In multivariate analysis adjusted for age, sex, smoking history, stage, surgical mode, and visceral pleural invasion, the CTNNB1 mutation and fusion genes (ALK, ROS1, RET) were negative prognostic factors for recurrence in early-stage lung adenocarcinoma (HR 4.47, p = 0.001; HR 2.73, p = 0.009). EGFR mutation was a favorable factor (HR 0.51, p = 0.016), but the CTNNB1/EGFR co-mutations were negative predictors (HR 19.2, p < 0.001). TP53 mutation was a negative predictor compared with EGFR mutation for recurrence (HR 5.24, p = 0.02). Conclusions: Targeted NGS can provide valuable information to predict recurrence and identify patients at high recurrence risk, facilitating selection of the treatment strategy among close monitoring and adjuvant-targeted therapy. Larger datasets are required to validate these findings.

scholarly journals A 48-Year-Old Male with Cutaneous Metastases of NUT Midline Carcinoma Misdiagnosed as Herpes Zoster

2017 ◽  
Vol 10 (3) ◽  
pp. 987-991 ◽  
Author(s):  
Lauren N. Ko ◽  
Qing Y.  Weng ◽  
Johanna S. Song ◽  
Mackenzie Asel ◽  
Scott R. Granter ◽  
...  
Keyword(s):  
Herpes Zoster ◽  
Nuclear Protein ◽  
Skin Involvement ◽  
Cutaneous Metastases ◽  
Nut Midline Carcinoma ◽  
Dismal Prognosis ◽  
Poorly Differentiated ◽  
Nut Carcinoma ◽  
The Right ◽  
Time Of Presentation

NUT (nuclear protein of the testis) midline carcinoma (NMC) is a rare, poorly differentiated neoplasm with dismal prognosis. Though NMC are often metastatic by the time of presentation, cutaneous metastases have not been well described in the literature. We report a case of NMC in a patient who presented with grouped well-demarcated tender non-ulcerated erythematous nodules on the right mid-back. The lesions were initially diagnosed and treated as herpes zoster. Following failure to improve with antiviral therapy, imaging and skin biopsy revealed that the lesions were in fact cutaneous NUT carcinoma. Although NMC is an uncommon diagnosis, clinicians should be aware that affected patients can develop skin involvement to avoid unnecessary and harmful treatments.

scholarly journals Lung Cancer Presenting as Skin Metastasis of the Back and Hand: A Case Series and Literature Review

2019 ◽  
Vol 12 (2) ◽  
pp. 480-487 ◽  
Author(s):  
Misbahuddin Khaja ◽  
Daniel Mundt ◽  
Rizwan Ahmed Dudekula ◽  
Umair Ashraf ◽  
Shehriyar Mehershahi ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Ct Scan ◽  
Left Lung ◽  
Case Series ◽  
The United States ◽  
Middle Lobe ◽  
Skin Metastasis ◽  
Smoking History ◽  
Poorly Differentiated ◽  
The Right

Lung cancer has the highest mortality of all cancers in the United States. The incidence of lung cancer with metastases to the skin varies between 1–12%, with the highest incidence seen in men. Here, we present two cases of lung cancer presenting as skin metastasis. The first patient was an 80-year-old African American male who presented to the hospital for evaluation of a right upper back mass. A few months prior to admission, he was found to have a left lung mass on CT scan of the chest, he underwent biopsy which showed poorly differentiated SCC of the lung. He also had a skin biopsy which showed poorly differentiated carcinoma in the dermis consistent with metastatic SCC. He was started on chemotherapy, but could not tolerate it. He was accepted to hospice. The second patient was a 78-year-old Hispanic female who presented to the hospital with dyspnea, and a dry cough. Upon physical examination, a 2 × 2 cm ulcerated, wart-like nodule on the right palm was noted. Subsequent CT scan of the chest showed a partial collapse of the right middle lobe. A biopsy of the hand mass revealed well-to-moderately differentiated metastatic SCC favoring lung origin. A bronchoscopy biopsy showed invasive SCC. Subsequently her condition worsened and she passed away. Metastasis to the skin is an unusual presenting symptom of lung cancer. It is therefore essential to consider metastasis as a diagnosis in a patient with both a skin lesion and a smoking history.

scholarly journals Thyroid Carcinoma on the Side of the Absent Lobe in a Patient with Thyroid Hemiagenesis

2017 ◽  
Vol 2017 ◽  
pp. 1-5
Author(s):  
Hiroki Sato ◽  
Kiyoaki Tsukahara ◽  
Ray Motohashi ◽  
Midori Wakiya ◽  
Hiromi Serizawa ◽  
...  
Keyword(s):  
Thyroid Carcinoma ◽  
Papillary Carcinoma ◽  
Thyroid Tissue ◽  
Needle Aspiration ◽  
Left Lobe ◽  
Thyroid Hemiagenesis ◽  
Poorly Differentiated ◽  
Node Metastases ◽  
Right Lobe ◽  
The Right

Background. Thyroid carcinoma complicated by hemiagenesis is very rare, and previous reports have not described this cancer on the side of the absent lobe. Methods and Results. We report the case of a 64-year-old woman in whom left thyroid hemiagenesis was discovered incidentally during investigations of abnormal sensation during swallowing. A tumorous 1.4 cm lesion was also found on the side of the absent lobe, left of the isthmus. Fine-needle aspiration biopsy revealed class V papillary carcinoma, but no lymph node metastases. Total thyroidectomy was performed for stage cT1bN0M0 carcinoma. Histopathology revealed normal thyroid tissues in the right lobe and isthmus, while the left lobe was absent. The mostly papillary carcinoma was adjacent to the truncated thyroid tissue, with a portion histologically consistent with poorly differentiated carcinoma. Conclusions. All previously reported cases of thyroid cancer complicated by hemiagenesis have represented carcinoma occurring within the present lobe. This case is extremely rare.

scholarly journals Meat Hook Injury Leading to Brain Abscess: A Rare Occurrence

2021 ◽  
Author(s):  
Batuk Diyora ◽  
Gagan Dhall ◽  
Mehool Patel ◽  
Mazharkhan Mulla ◽  
Nilesh More ◽  
...  
Keyword(s):  
Brain Abscess ◽  
Signs And Symptoms ◽  
Penetrating Injury ◽  
Perilesional Edema ◽  
Delayed Complications ◽  
The Right ◽  
Time Of Presentation ◽  
Local Examination ◽  
Abscess Wall ◽  
Primary Injury

AbstractTransorbital orbitofrontal penetrating injury by a nonmissile object is uncommon. The presentation of this injury varies. This injury can be easily missed during the initial clinical presentation, because the foreign body is sometimes not visible on local examination, the wound on the orbital skin is small, and very subtle signs are present. The patient can present with delayed complications of the primary injury. Our patient was a 33-year-old male who presented with an orbitofrontal injury with a meat hook. He had minor symptoms at the time of presentation, which were overlooked. Three weeks later, he developed signs and symptoms of raised intracranial pressure (ICP). Brain imaging revealed a peripheral rim of contrast-enhancing mass lesion in the right frontal lobe, extending into the right orbit with perilesional edema suggestive of posttraumatic brain abscess. Via right frontal craniotomy, pus was drained out and abscess wall was excised. The patient made good clinical recovery. A higher index of suspicion and sound knowledge of occult penetrating injury patterns is required in the cases of orbital injuries. Appropriate radiological imaging can lead to an earlier and accurate diagnosis, and can prevent its delayed sequela like brain abscess.

scholarly journals Challenging Diagnosis in NUT Carcinoma

2021 ◽  
pp. 106689692110195
Author(s):  
Grosse Claudia ◽  
Grosse Alexandra
Keyword(s):  
Nuclear Protein ◽  
Hematological Malignancy ◽  
Undifferentiated Carcinoma ◽  
Squamous Differentiation ◽  
Poorly Differentiated Carcinoma ◽  
Poorly Differentiated ◽  
Nut Carcinoma ◽  
Disseminated Disease ◽  
Generation Sequencing

Nuclear protein in testis (NUT) carcinoma represents a highly aggressive, poorly differentiated carcinoma that is genetically defined by rearrangement of NUT gene. The histomorphological appearance ranges from entirely undifferentiated carcinoma to carcinoma with prominent squamous differentiation. NUT carcinoma can display neuroendocrine features. Although it is typically distributed along the midline axis, it may manifest in nonmidline locations. The majority of patients develop rapidly disseminated disease. We illustrate 2 cases of NUT carcinoma, one located in the lung, which closely resembled a neuroendocrine carcinoma, and the other one with assumed lung origin demonstrating metastatic dissemination with diffuse bone involvement, which was clinically first suspected to be a hematological malignancy. Due to its undifferentiated nature, NUT carcinoma may be confused with many entities. NUT immunohistochemistry is considered to be sufficient for the diagnosis. Fluorescence in-situ hybridization analysis and next-generation sequencing are currently used to confirm the diagnosis.

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