RESUMEN
Introduction: Osteochondromas are benign tumors that arise primarily in the metaphyseal region of long bones. The malignant transformation rate is estimated to be less than 1% and 1-3% in solitary and multiple osteochondromas, respectively. Transformation to osteosarcoma is very rare. Little information is available on treatment or outcome. A rare case of osteosarcoma arising from hereditary multiple osteochondromas of the right iliac bone is reported. Case Presentation: A 66-year-old woman presented with recurrent right abdominal pain. Computed tomography (CT) showed a mass protruding into the pelvic cavity, 9 cm × 7 cm × 7 cm, with bone destruction and internal calcification in the right iliac bone. A CT-guided biopsy was performed, and the diagnosis was osteosarcoma. After one course of chemotherapy with doxorubicin and ifosfamide, extensive resection of the tumor was performed. The pathology showed proliferation of highly pleomorphic dysplastic cells with bone formation inside the tumor just below the osteochondroma tissue, which led to the diagnosis of osteosarcoma arising from the osteochondroma. Three years after surgery, there was no evidence of recurrence or metastasis, and the patient was able to walk unassisted. Conclusion: A case of osteosarcoma arising from an iliac lesion of hereditary multiple osteochondromas was described. Although no recurrence or metastasis has been observed 3 years after surgery, further follow-up is necessary due to the short time after surgery.
RESUMEN
Objectives: The objective of this study is to identify the effect of cribriform pattern 4 carcinoma/intraductal carcinoma of the prostate (CC/IDCP) on persistent prostate-specific antigen (PSA) levels after robot-assisted radical prostatectomy (RARP) in patients with localized prostate cancer (PCa). Patients and Methods: This retrospective study included 730 consecutive patients with localized PCa who underwent RARP at Mie University (n = 392) and Aichi Medical University (n = 338) between 2015 and 2021. Patients with clinically metastatic PCa (cN1 and cM1) and those who received neoadjuvant and/or adjuvant therapy before biochemical recurrence were excluded. We evaluated the effects of CC/IDCP on persistent PSA levels after RARP. Persistent PSA was defined as PSA level ≥0.2 ng/mL at 1 month postoperatively and consecutively thereafter. Using factors from logistic regression analysis, models were developed to predict persistent PSA levels. Results: Approximately 6.3% (n = 46) of the patients had persistent PSA levels. Patients with biopsy CC/IDCP (bCC/IDCP) and pathological CC/IDCP (pCC/IDCP) based on RARP specimens were 11.6% (85/730) and 36.5% (267/730), respectively. Multivariate analysis of the prediction of persistent PSA levels using preoperative factors revealed that PSA density, percentage of positive cancer cores, biopsy grade group and bCC/IDCP were independent prognostic factors. Furthermore, multivariate analysis of the prediction of persistent PSA levels using postoperative factors, excluding pN1, revealed that pathological grade group, pCC/IDCP, seminal vesicle invasion and lymphovascular invasion were independent prognostic factors. In the receiver operating characteristic curve analysis for predicting persistent PSA after RARP, areas under the receiver operating characteristic curve for the model with preoperative factors, postoperative factors, including pN1, and postoperative factors, excluding pN1, were 0.827, 0.833 and 0.834, respectively. Conclusions: bCC/IDCP predicted persistent PSA after RARP in the overall population, while pCC/IDCP predicted persistent PSA only when the pN1 population was excluded. This may be useful for predicting susceptible patients with worse outcomes.
RESUMEN
A 42-year-old man visited our hospital complaining of secondary infertility. An abdominal ultrasonography screening incidentally revealed a protruding lesion in the bladder. As the lesion extended from the prostatic urethra and bladder neck, there was a possibility of ejaculation dysfunction after resection of the lesion. Therefore, with the patient's informed consent, sperm cryopreservation was conducted for fertility preservation, and subsequently histological examination was performed by partial transurethral resection of bladder tumor. The pathological findings were proliferative cystitis including all three subtypes (glandularis, cystica, and papillary). Cyclooxygenase-2 immunostaining was positive in cytoplasm; weakly positive in cystic and papillary lesions, and strongly positive in glandular lesions. According to a literature review of massive proliferative cystitis, the patient was the 77th case in Japan. Novel postoperative immunological pharmacotherapies with cyclooxygenase-2 inhibitors have been introduced in recent years.
Asunto(s)
Cistitis , Humanos , Masculino , Adulto , Cistitis/diagnóstico por imagen , Cistitis/patología , Infertilidad Masculina/etiologíaRESUMEN
PURPOSE: Several reports have shown the importance of margins in pancreatoduodenectomy (PD) specimens; however, whether anterior surfaces are included as margins varies among reports. In this study, we aimed to examine the impact of the anterior surface on disease-free survival (DFS) and overall survival (OS). METHOD: In total, 98 patients who underwent PD after chemoradiotherapy for pancreatic ductal adenocarcinoma at Mie University Hospital between January 1, 2012, and December 31, 2019, were included. We investigated the prognostic impact of the distance from the anterior surface to tumor cells on DFS and OS using a log-rank test. Multivariate analysis was performed using Cox proportional hazards analysis. RESULTS: A significant difference in DFS and OS was observed up to a distance of 5 mm from the anterior surface of tumor cells. The multivariate analysis revealed that the distance from the anterior surface to tumor cells (≤5 mm) was an independent poor prognostic factor for DFS and OS. CONCLUSION: In patients with PD treated with neoadjuvant therapy, the distance from the anterior surface to tumor cells is an important assessment and should be included in the pathology report.
Asunto(s)
Carcinoma Ductal Pancreático , Terapia Neoadyuvante , Neoplasias Pancreáticas , Pancreaticoduodenectomía , Humanos , Femenino , Masculino , Carcinoma Ductal Pancreático/terapia , Carcinoma Ductal Pancreático/patología , Carcinoma Ductal Pancreático/mortalidad , Anciano , Neoplasias Pancreáticas/terapia , Neoplasias Pancreáticas/patología , Neoplasias Pancreáticas/mortalidad , Persona de Mediana Edad , Pronóstico , Supervivencia sin Enfermedad , Quimioradioterapia , Estudios Retrospectivos , Márgenes de Escisión , Anciano de 80 o más Años , AdultoRESUMEN
In 2023, the Japan Pancreas Society (JPS) published the new eighth edition of the Japanese classification of pancreatic carcinoma. We present here an excerpted version in English, based on the latest edition. The major changes in this revision are as follows: In the eighth edition of the Union for International Cancer Control (UICC), the T category was changed to be based on tumor size; however, the eighth edition of the Japanese classification retains the previous T category based on local invasion factors. Lymph nodes have been renamed, and regional lymph nodes have been defined by location. Peritoneal cytology, which was not previously included in distant metastasis (M), has now been included in the M category. Moreover, significant additions have been made regarding the pathological diagnosis of endoscopic ultrasound-guided fine-needle aspiration biopsy (EUS-FNAB) and criteria for histological assessment of the effects after chemotherapy and radiation therapy. Although this classification is aimed at carcinoma originating in the pancreas, not in the bile duct or duodenum, if the differentiation of the primary organ is difficult, this classification should be applied. It is also desirable to describe tumors other than carcinoma and metastatic tumors to the pancreas in accordance with this classification.
RESUMEN
OBJECTIVES: To develop a simple postoperative risk stratification based on histopathologic findings from radical prostatectomy specimens. METHODS: This study included 3 cohorts of patients with a preoperative diagnosis of clinically localized prostate cancer: 1 derivation cohort (n = 432) and 2 validation cohorts (n = 506 and n = 720). First, a postoperative risk stratification model was developed in the derivation cohort using the factors extraprostatic extension, surgical margin status, seminal vesicle invasion, and lymph node involvement. Each of the first 3 factors was assigned 0 or 1 point for negative or positive results, respectively, and the sum of the points, ranging from 0 to 3, was scored. pN1 was not scored but was analyzed separately. Validation cohorts were then used to evaluate the predictive accuracy of the model. Additionally, we compared the model with the Cancer of the Prostate Risk Assessment (CAPRA) score. RESULTS: Because the log-rank test showed no statistically significant differences between scores 1 vs 2 or score 3 vs pN1 in the derivation cohort, the following 3-level risk stratification was created: low risk (score 0), intermediate risk (score 1-2), and high risk (score 3 or pN1). There were statistically significant differences in recurrence-free survival between any of 2 groups of 3-level risk stratification. This model similarly worked in both validation cohorts. The C indexes for the model were higher than those for the CAPRA score. CONCLUSIONS: This simple postoperative risk stratification model, based on radical prostatectomy findings, has a prognostic impact that has been validated in a multicenter population.
Asunto(s)
Prostatectomía , Neoplasias de la Próstata , Humanos , Masculino , Neoplasias de la Próstata/patología , Neoplasias de la Próstata/cirugía , Persona de Mediana Edad , Medición de Riesgo , Anciano , Estudios de Cohortes , Pronóstico , Supervivencia sin EnfermedadRESUMEN
BACKGROUND: Prompt histopathological diagnosis with accuracy is required for soft tissue sarcomas (STSs) which are still challenging. In addition, the advances in artificial intelligence (AI) along with the development of pathology slides digitization may empower the demand for the prediction of behavior of STSs. In this article, we explored the application of deep learning for prediction of prognosis from histopathological images in patients with STS. METHODS: Our retrospective study included a total of 35 histopathological slides from patients with STS. We trained Inception v3 which is proposed method of convolutional neural network based survivability estimation. F1 score which identify the accuracy and area under the receiver operating characteristic curve (AUC) served as main outcome measures from a 4-fold validation. RESULTS: The cohort included 35 patients with a mean age of 64 years, and the mean follow-up period was 34 months (2-66 months). Our deep learning method achieved AUC of 0.974 and an accuracy of 91.9% in predicting overall survival. Concerning with the prediction of metastasis-free survival, the accuracy was 84.2% with the AUC of 0.852. CONCLUSION: AI might be used to help pathologists with accurate prognosis prediction. This study could substantially improve the clinical management of patients with STS.
Asunto(s)
Inteligencia Artificial , Aprendizaje Profundo , Sarcoma , Humanos , Persona de Mediana Edad , Masculino , Femenino , Sarcoma/patología , Sarcoma/mortalidad , Estudios Retrospectivos , Pronóstico , Anciano , Adulto , Curva ROC , Redes Neurales de la Computación , Procesamiento de Imagen Asistido por Computador/métodos , Anciano de 80 o más AñosRESUMEN
Introduction: Cystectomy is the last treatment option for Hunner-type interstitial cystitis. However, consensus regarding optimal patient selection or treatment approaches is lacking. Case presentation: A 27-year-old woman presented to a regional hospital with bladder pain and frequent urination. Antimicrobial therapy was administered; however, her symptoms persisted and she was finally diagnosed with HIC. Multiple endoscopic fulgurations of Hunner's lesions with bladder hydrodistension or intravesical therapy were performed; however, the symptoms persisted. A urethral catheter was inserted 1 month before she visited our clinic because of a severely contracted bladder. We performed female pelvic organ-preserving robot-assisted simple cystectomy and intracorporeal ileal neobladder reconstruction. The patient's postoperative course was uneventful and her symptoms resolved. Conclusion: This is the first report of pelvic organ-preserving robot-assisted simple cystectomy and intracorporeal ileal neobladder reconstruction in a young woman with HIC.
RESUMEN
Choledochocele is defined as a congenital dilatation of the distal intramural part of the common bile duct protruding into the wall of the descending duodenum, typically without pancreaticobiliary maljunction. However, some cases present with a similar pathophysiology to pancreaticobiliary maljunction, including reciprocal reflux of pancreatic juices and bile, leading to protein plugs, pancreatitis, and biliary tract carcinogenesis. Choledochocele is relatively rare and its anatomy, physiology, pathology, and clinical features are thus not well known. We describe a patient with choledochocele who suffered from repeated severe acute pancreatitis and underwent subtotal stomach-preserving pancreatoduodenectomy, in whom the pathological findings of choledochocele showed hyperplasia.
Asunto(s)
Quiste del Colédoco , Mala Unión Pancreaticobiliar , Pancreatitis , Humanos , Quiste del Colédoco/complicaciones , Quiste del Colédoco/diagnóstico por imagen , Quiste del Colédoco/cirugía , Pancreatitis/etiología , Pancreatitis/cirugía , Pancreaticoduodenectomía/efectos adversos , Conductos Pancreáticos/patología , Hiperplasia/patología , Mala Unión Pancreaticobiliar/complicaciones , Enfermedad Aguda , Estómago/patología , Epitelio/patologíaRESUMEN
BACKGROUND/AIM: Cancer/testis antigens (CTAs) are well-known molecular targets with expression restricted to testicular germ cells and malignant tumors. T-cell receptor (TCR)-engineered T-cell (TCR-T) therapy against CTAs in patients with sarcoma has shown substantial progress, but resistance to TCR-T therapy remains a critical problem. In this report, we present a case of synovial sarcoma treated with TCR-T therapy targeting the New York-esophageal squamous cell carcinoma (NY-ESO)-1 protein. Histological findings were compared before and after TCR-T therapy and before and immediately after cryoablation. CASE REPORT: A 68-year-old man received additional wide resection for synovial sarcoma in the left leg. Due to multiple metastases, he was enrolled in a clinical trial of TCR-T therapy for NY-ESO-1. The tumor demonstrated a 34.9% reduction in diameter. However, disease progression occurred by day 84 after TCR-T therapy. Six months after disease progression, cryoablation was performed for right posterior rib lesion and tumor specimens were obtained by needle biopsy both before and immediately after cryoablation. Ten months after the diagnosis of disease progression, the patient died. Expression levels of NY-ESO-1, human leukocyte antigen, and immune checkpoint proteins remained unchanged before and after TCR-T therapy. Beta catenin was up-regulated in recurrent tumor tissues after TCR-T therapy compared to levels observed before TCR-T therapy. Immediately after cryoablation, immunoreactivity for NY-ESO-1 showed a slightly reduction. CONCLUSION: Up-regulation of beta-catenin in synovial sarcoma with recurrence after TCR-T therapy may be involved in T-cell exclusion and resistance to TCR-T therapy. Needle biopsy after cryoablation can be performed with sufficient pathological diagnostic accuracy including immunostaining.
Asunto(s)
Criocirugía , Neoplasias Esofágicas , Carcinoma de Células Escamosas de Esófago , Sarcoma Sinovial , Masculino , Humanos , Anciano , Sarcoma Sinovial/cirugía , Antígenos de Neoplasias/metabolismo , Recurrencia Local de Neoplasia , Receptores de Antígenos de Linfocitos T/metabolismo , Progresión de la Enfermedad , Tratamiento Basado en Trasplante de Células y TejidosRESUMEN
A man in his 70s visited our hospital for gross hematuria. He was diagnosed with invasive urothelial carcinoma (cT3N2M0) and underwent total cystectomy and ileum conduit construction after three courses of neoadjuvant chemotherapy. Eight months after the operation, the disease reoccurred in the pelvic lesion. He received pembrolizumab therapy but developed idiopathic thrombocytopenic purpura (ITP) immediately before the ninth course of administration; and, treatment was discontinued. Recovery of symptoms and normalization of blood test data were achieved 3.5months after starting steroid treatment. Reduction of recurrent disease has been maintained for 2 years.
Asunto(s)
Carcinoma de Células Transicionales , Púrpura Trombocitopénica Idiopática , Neoplasias de la Vejiga Urinaria , Humanos , Masculino , Anticuerpos Monoclonales Humanizados/efectos adversos , Púrpura Trombocitopénica Idiopática/inducido químicamente , Púrpura Trombocitopénica Idiopática/tratamiento farmacológico , Neoplasias de la Vejiga Urinaria/tratamiento farmacológico , Neoplasias de la Vejiga Urinaria/cirugía , Neoplasias de la Vejiga Urinaria/complicaciones , AncianoRESUMEN
BACKGROUND: Prostate cancer patients with pathological prognostic factors have a poor prognosis, but it is unclear whether pathological prognostic factors are associated with prognosis limited to low-risk patients with good prognosis according to NCCN guidelines. The present study examined whether prognosis is influenced by pathological prognostic factors using radical prostatectomy (RP) specimens from low-risk patients. METHODS: We evaluated diagnostic accuracy by examining biochemical recurrence (BCR)-free survival with respect to clinical and pathological prognostic factors in 419 all-risk patients who underwent RP. Clinical prognostic factors included age, prostate-specific antigen (PSA) levels, PSA density, and risk stratification, while pathological prognostic factors included grade group, lymphovascular space invasion, extraprostatic extension, surgical margins, seminal vesicle invasion, intraductal carcinoma of the prostate (IDCP), and pT. In a subsequent analysis restricted to 104 low-risk patients, survival curves were estimated for pathological prognostic factors using the Kaplan-Meier method and compared using log-rank and generalized Wilcoxon tests. RESULTS: In the overall risk analysis, the presence of pathological prognostic factors significantly shortened BCR-free survival (p < 0.05). Univariable analysis revealed that PSA density, risk categories, and pathological prognostic factors were significantly associated with BCR-free survival, although age and PSA were not. In multivariable analysis, age, risk categories, grade group, IDCP, and pT significantly predicted BCR-free survival (p < 0.05). Conversely, no statistically significant differences were found for any pathological prognostic factors in low-risk patients. CONCLUSIONS: In low-risk patients, pathological prognostic factors did not affect BCR-free survival, which suggests that additional treatment may be unnecessary even if pathological prognostic factors are observed in low-risk patients with RP.
Asunto(s)
Antígeno Prostático Específico , Neoplasias de la Próstata , Masculino , Humanos , Pronóstico , Antígeno Prostático Específico/análisis , Estudios Retrospectivos , Recurrencia Local de Neoplasia/cirugía , Neoplasias de la Próstata/patología , Prostatectomía/métodosRESUMEN
Mixed epithelial and stromal tumor (MEST) of the kidney is a rare benign tumor with malignant potential, and is characterized by epithelial and stromal proliferation with a variety of cellularity and growth pattern. MEST of the kidney is often depicted as a well-defined, solid mass with a cystic component. However, due to the rarity of the disease, there are no reports of its progression in serial imaging examinations. This report presents the case of a 68-year-old woman with MEST who was followed for 13 years by computed tomography (CT). To the best of our knowledge, this is the first report of image findings of MEST of the kidney over a follow-up period longer than 10 years.
RESUMEN
Introduction: "Other oncocytic renal tumors of the kidney" is a new category constituted by 2022 WHO classification and different in the point of morphology and immunohistochemistory from typical oncocytic/eosinophilic renal tumors including chromophobe renal cell carcinoma and oncocytoma. Case presentation: The patient was an 84-year-old woman in whom a left renal tumor was incidentally discovered. She underwent left nephrectomy, and the pathological specimens showed a borderline eosinophilic renal tumor between chromophobe renal cell carcinoma and renal oncocytoma. After all recognized oncocytic tumors were excluded, we diagnosed the tumor as other oncocytic renal tumor of the kidney. Conclusion: Other oncocytic renal tumor of the kidney is a provisional category. Therefore, further research and accumulation of similar cases are necessary.
RESUMEN
Objective: Respiratory epithelial adenomatoid hamartoma (REAH) is classified as a histopathologic diagnosis and often identified in sinus surgery for chronic rhinosinusitis (CRS). The purpose of this study was to clarify the frequency and predictors of REAH and prognosis of CRS with REAH in CRS cases. Methods: In the first study, we histologically reviewed sinonasal polyps and mucosal tissue specimens obtained from patients who underwent endoscopic sinus surgery (ESS) for CRS to reveal how many REAH were involved in ESS cases. We compared REAH and non-REAH groups in terms of preoperative symptoms and endoscopic, imaging and blood examination findings to elucidate predictors of REAH genesis. In the second study, we compared the data 3 months after surgery such as endoscopic and imaging findings and olfactory test to evaluate prognosis of CRS with REAH. Results: The prevalence of REAH was 15.5% of all 304 cases in the first and second studies combined. Higher polyp score in the middle meatus was an independent predictor of the presence of REAH (p = .02). Presence of REAH was significantly associated with the enlargement of olfactory cleft polyps (p < .01), increasing postoperative scores of standard olfactory tests (p = .03), and decline of ratio of improvement (p < .01) measured using T&T olfactometry. Conclusions: Higher polyp score in the middle meatus is an independent predictor of REAH. Olfactory function is difficult to recover after surgery in REAH patients because it is associated with recurrent polyps in the olfactory cleft.
RESUMEN
BACKGROUND: Microcystic pancreatic serous cystadenoma (SCA) can be managed without surgery in selected patients. However, the preoperative diagnosis of microcystic SCA remains challenging, and it is potentially misdiagnosed as other pancreatic cystic neoplasms or solid tumors, especially small microcystic SCA. CASE PRESENTATION: This was a case of a 27-year-old male patient with microcystic SCA causing difficulty in the differential diagnosis from pancreatic neuroendocrine neoplasm (pNEN). A pancreatic tail mass was incidentally discovered on abdominal ultrasound (US). A contrast-enhanced computed tomography (CT) scan revealed a solid tumor measuring 13 mm with early enhancement in the arterial phase at the pancreatic tail. The tumor showed low intensity on T1-weighted magnetic resonance image, high intensity on T2-weighted image, and a slightly hyperechoic mass on endoscopic US (EUS). EUS-fine needle aspiration (EUS-FNA) did not lead to a definitive diagnosis. The tumor was clinically diagnosed as a pNEN, and a laparoscopic spleen-preserving distal pancreatectomy using the Warshaw technique was performed. The final histopathological diagnosis was microcystic SCA. CONCLUSION: Small microcystic SCA is difficult to distinguish from a hypervascular pancreatic tumor such as pNEN on imaging studies, and it is necessary to focus on the tumor echogenicity of EUS to differentiate microcystic SCA from pNEN preoperatively.
RESUMEN
Succinate dehydrogenase (SDH)-deficient renal cell carcinoma (RCC) is a rare renal cancer. A 75-year-old Japanese female presented with gross hematuria. Computed tomography revealed two tumors in the left kidney, which were resected. Immunohistochemistry indicated negative staining for the B subunit of SDH (SDHB) in the resected specimen, leading to a final diagnosis of SDHB-deficient RCC. Genetic testing for SDHB showed a RCC germline variant in exon 6 (NM_003000.3:c.642 G > C) that was previously reported but associated with a novel phenotype (i.e., RCC). Twenty-six years prior, her daughter, who was 25 years old at the time, had undergone radical nephrectomy for a pathologic diagnosis of renal oncocytoma of the right kidney; SDHB immunostaining of her daughter's tumor was also negative retrospectively. We confirmed that her daughter carried the germline variant in SDHB exon 6, similar to the patient. The patient had no evidence of disease progression at 15 months after surgery.
RESUMEN
BACKGROUND: Hepatocellular carcinoma with osteoclast-like giant cells is very rare and has an extremely poor prognosis. Here, we report a case of hepatocellular carcinoma with osteoclast-like giant cells that had a relatively better prognosis. CASE PRESENTATION: A 70-year-old Japanese man with hepatitis B virus-related liver cirrhosis was admitted to our hospital for the treatment of recurrent hepatocellular carcinoma. At the age of 60 years, he was first diagnosed as having hepatocellular carcinoma in the right lobe (9 cm in diameter), and liver resection of segment 7/8 was performed. Histological findings showed well-differentiated hepatocellular carcinoma. Since then, imaging studies have been performed every 3 or 4 months. One year later, hepatocellular carcinoma recurred in the lateral segment, and radiofrequency ablation was performed. Nine years after the first presentation, hepatocellular carcinoma recurrences were detected in the caudate lobe and segment 5 by imaging studies. Surgical resection of the caudate lobe was performed, and ultrasonography-guided radiofrequency ablation was subsequently performed for the segment 5 tumor. The resected tumor was simple nodular, well-differentiated HCC; it measured 21 × 21 mm and contained many osteoclast-like giant cells. As neither vascular nor bile duct invasion was found, we believe that radical resection was achieved. Since then, the hepatocellular carcinoma has not recurred for over a year and a half. CONCLUSION: Hepatocellular carcinoma with osteoclast-like giant cells is very rare and the prognosis is extremely poor, but early detection can lead to a better clinical course.
Asunto(s)
Carcinoma Hepatocelular , Neoplasias Hepáticas , Anciano , Carcinoma Hepatocelular/diagnóstico por imagen , Carcinoma Hepatocelular/cirugía , Células Gigantes/patología , Humanos , Neoplasias Hepáticas/diagnóstico por imagen , Neoplasias Hepáticas/cirugía , Masculino , Persona de Mediana Edad , Recurrencia Local de Neoplasia/diagnóstico por imagen , Recurrencia Local de Neoplasia/patología , Recurrencia Local de Neoplasia/cirugía , Osteoclastos/patologíaRESUMEN
Undifferentiated neoplasms of unknown primary sites are rare. It is difficult to identify their characteristics and determine the appropriate chemotherapy regimen to be used. Undifferentiated/rhabdoid carcinoma is reportedly associated with loss of SWI/SNF chromatin remodeling complexes, such as observed in SMARCA4-deficient tumors. However, little is known about SMARCA2/BRM-deficient tumors. A 48-year-old man presented with low back pain. Computed tomography (CT) revealed intraperitoneal lymph nodes and multiple bone metastases that invaded the thoracic and lumbar spinal canals. The primary tumor was not identified despite the standard diagnostic methods being used. CT-guided needle biopsy of right iliac bone metastasis showed that the tumor had an undifferentiated/rhabdoid morphology. Immunostaining revealed that the tumor was SMARCA2/BRM-deficient despite both SMARCB1/INI1 and SMARCA4/BRG being retained. We found no genomic alterations during domestic next-generation sequencing panel profiling, which can identify 114 genes. Thus, he was diagnosed with SMARCA2/BRM-deficient undifferentiated/rhabdoid carcinoma of an unknown primary site with multiple bone metastases and intraperitoneal lymph node metastasis. We administered radiotherapy to the thoracic and lumbar spine to improve cord compression, and carboplatin (CBDCA) and paclitaxel regimen was chosen as first-line chemotherapy, but this was discontinued due to an anaphylactic shock. We then selected the CBDCA and gemcitabine regimens; however, the patient did not continuously receive the regimen due to myelosuppression. Radiation therapy effectively relieves pain and cord compression. To our knowledge, this is the first reported case of SMARCA2/BRM-deficient undifferentiated/rhabdoid carcinoma of an unknown primary site. Further studies are needed to improve SWI/SNF-deficient tumor identification methods.
RESUMEN
Tumor-related sarcoidosis-like reactions (SLR) have been reported with the use of immune checkpoint inhibitors (ICIs). We report a case of 50-year-old woman who observed an enlarged lymph node in the right hilar region and the appearance of a subcutaneous mass in the extremities during chemotherapy with atezolizumab plus nab-paclitaxel for metastatic triple-negative breast cancer (TNBC). Skin biopsy revealed the formation of epithelioid granulation species with the Langhans giant cell. After discontinuing atezolizumab in the treatment procedure, the hilar lymph nodes and the subcutaneous mass were reduced. A pathological examination was effective in differentiating tumor exacerbation from SLR. Owing to limited information on ICI-related SLR in breast cancer, future studies are recommended to properly manage immune-related adverse effects during cancer treatment.