Hepatic perivascular epithelioid cell tumors:The importance of preoperative diagnosis

Accurate preoperative diagnosis is highly important for the treatment of perivascular epithelioid cell tumors(PEComas)because PEComas are mainly benign tumors and may not require surgical intervention.By analyzing the causes,properties and clinical manifestations of PEComas,we summarize the challenges and solutions in the diagnosis of PEComas.

Overall clinical course of indeterminate dendritic cell tumor patients without skin lesions:A rare case report

BACKGROUND Indeterminate dendritic cell tumor(IDCT)is a rare tumor of immune cells,and IDCT patients without skin lesions are rarely reported.Therefore,the clinical course in this type of patient is unclear,and further research on the underlying pathological mechanisms and appropriate treatments is needed.CASE SUMMARY This study describes a female IDCT patient with bile duct lesions.The strong mimicry of IDCT lesions confused doctors,and consequently,this patient,who had no skin lesions,was first diagnosed with cholangiocarcinoma.Then,she presented with persistent abdominal distension without jaundice.Enlarged mesenteric lymph nodes along with massive ascites were observed in the subsequent imaging examination.However,no tumor cells or pathogens were found in the three subsequent ascites analyses.It took 2 years to reach the correct diagnosis,which was eventually obtained by performing surgery for biopsy of the patient’s abdominal lymph nodes.However,by then,she was already in a cachexic state.Finally,she received a cycle of cyclophosphamide therapy and was advised to visit a hospital specializing in rare diseases.CONCLUSION For IDCT patients without skin lesions,early biopsy is the key to obtaining a correct diagnosis.Moreover,the collective management of IDCT patients is important.Further histological and molecular biology studies based on human specimens are critical for understanding the pathological mechanism of dendritic cell tumors in the future.

Thoracic giant cell tumor after two total en bloc spondylectomies including one emergency surgery:A case report

BACKGROUND For patients with acute paraplegia caused by spinal giant cell tumor(GCT)who require emergency decompressive surgery,there is still a lack of relevant reports on surgical options.This study is the first to present the case of an acute paraplegic patient with a thoracic spinal GCT who underwent an emergency total en bloc spondylectomy(TES).Despite tumor recurrence,three-level TES was repeated after denosumab therapy.CASE SUMMARY A 27-year-old female patient who underwent single-level TES in an emergency presented with sudden severe back pain and acute paraplegia due to a thoracic spinal tumor.After emergency TES,the patient's spinal cord function recovered,and permanent paralysis was avoided.The postoperative histopathological examination revealed that the excised neoplasm was a rare GCT.Unfortunately,the tumor recurred 9 months after the first surgery.After 12 months of denosumab therapy,the tumor size was reduced,and tumor calcification.To prevent recurrent tumor progression and provide a possible cure,a three-level TES was performed again.The patient returned to an active lifestyle 1 month after the second surgery,and no recurrence of GCT was found at the last follow-up.CONCLUSION This patient with acute paraplegia underwent TES twice,including once in an emergency,and achieved good therapeutic results.TES in emergency surgery is feasible and safe when conditions permit;however,it may increase the risk of tumor recurrence.

Massive simultaneous hepatic and renal perivascular epithelioid cell tumor benefitted from surgery and everolimus treatment:A case report

BACKGROUND Perivascular epithelioid cell tumor(PEComa)is a rare mesenchymal neoplasm that predominantly affects the kidney and uterus.The occurrence of this tumor in the liver,particularly with simultaneous involvement of the liver and kidney,is exceedingly uncommon.Pathological diagnosis is the gold standard.PEComas usually show positive immunohistochemical staining for melanocytic(HMB-45,Melan-A)and myoid(SMA,muscle-specific actin)markers.CASE SUMMARY We presented a noteworthy case of malignant PEComa affecting both the liver and kidney in a 53-year-old man with tuberous sclerosis complex(TSC).FAT2 and TP73 mutations in the kidney were identified and positive expression of diagnostic markers including HMB-45,Melan A,and TFE3 were detected.In addition,we demonstrated that hepatic artery perfusion chemotherapy was ineffective for hepatic PEComa,while surgery remained the most effective approach.Everolimus showed an excellent efficacy in the postoperative treatment of the tumor.CONCLUSION Surgical treatment is preferred for malignant PEComa affecting liver and kidney,especially with TSC;everolimus is effective postoperatively.

Multimodal imaging in the diagnosis of bone giant cell tumors:A retrospective study

BACKGROUND Giant cell tumor of bone is a locally aggressive and rarely metastasizing tumor,and also a potential malignant tumor that may develop into a primary malignant giant cell tumor.AIM To evaluate the role of multimodal imaging in the diagnosis of giant cell tumors of bone.METHODS The data of 32 patients with giant cell tumor of bone confirmed by core-needle biopsy or surgical pathology at our hospital between March 2018 and March 2023 were retrospectively selected.All the patients with giant cell tumors of the bone were examined by X-ray,computed tomography(CT)and magnetic resonance imaging(MRI),and 7 of them were examined by positron emission tomography(PET)-CT.RESULTS X-ray imaging can provide overall information on giant cell tumor lesions.CT and MRI can reveal the characteristics of the internal structure of the tumor as well as the adjacent relationships of the tumor,and these methods have unique advantages for diagnosing tumors and determining the scope of surgery.PET-CT can detect small lesions and is highly valuable for identifying benign and malignant tumors to aid in the early diagnosis of metastasis.CONCLUSION Multimodal imaging plays an important role in the diagnosis of giant cell tumor of bone and can provide a reference for the treatment of giant cell tumors.

Adult-Type Granulosa Cell Tumor with Similar Clinical Findings Seen during Ovarian Cystectomy Performed at the Same Time as Laparoscopic Ovarian Drilling for Polycystic Ovarian Syndrome: An Extremely Rare Case

Polycystic ovary syndrome (PCOS) is a major cause of anovulatory infertility. Laparoscopic ovarian drilling (LOD) is a treatment for PCOS that allows the laparoscopic identification of other intra-abdominal lesions and the provision of diagnostic treatment. This study reports a case of PCOS with an ovarian mass in which LOD was aggressively used and a granulosa cell tumor (GCT) was found. A 34-year-old woman with secondary amenorrhea and irregular menstrual cycles presented to the emergency department with abdominal pain of unknown etiology. Imaging studies revealed a 6-cm left ovarian mass with an internal appearance suggestive of a hemorrhage. The patient’s secondary amenorrhea was subsequently diagnosed as PCOS, and LOD was performed to preserve her fertility. Simultaneously, a cystectomy was performed to evaluate the tumor in the left ovary;the diagnosis was adult-type GCT. Although concomitant GCT and PCOS are extremely rare, the two conditions have similar clinical manifestations. In women of reproductive age, the impact of surgery on future fertility should be considered, and the initial surgical technique should be chosen carefully.

Pregnancy complicated by juxtaglomerular cell tumor of the kidney:A case report

BACKGROUND Juxtaglomerular cell tumor(JGCT)of the kidney,also known as reninoma,is a rare renal tumor that typically clinically manifests as hypertension,hypokalemia,high renin,and high aldosterone.It is a cause of secondary hypertension.Pregnancy with JGCT is rarer and easily misdiagnosed as pregnancy-induced hypertension,thus affecting treatment.CASE SUMMARY A 28-year-old woman presented in early pregnancy with hypertension(blood pressure of 229/159 mmHg),nausea,and occasional dizziness and headache.The patient was diagnosed with pregnancy-induced hypertension,and no relief was found after symptomatic treatment;hence,the pregnancy was terminated by artificial abortion.Her blood pressure remained high following termination of pregnancy.Blood tests suggested hypokalemia(2.997 mmol/L),blood aldo-sterone measured 613 ng/L,and computed tomography urography showed a tumor in the right kidney.Therefore,laparoscopic partial nephrectomy was performed.After surgery,the patient’s blood pressure returned to normal,and blood potassium,aldosterone,and renin normalized.Postoperative pathological examination revealed JGCT.After long-term follow-up,the patient became pregnant again 6 mo after surgery.No hypertension occurred during pregnancy,and the patient delivered a healthy female neonate.CONCLUSION Patients with pregnancy complicated by JGCT are difficult to diagnose.Herein,we advise surgeons on proper handling of such situations.

Granular cell tumor of the breast:A case report and review of literature

BACKGROUND Granular cell tumor(GCT)of the breast(GCTB)is a rare neoplasm that can exhibit malignant characteristics both clinically and radiologically.This tumor can also coexist and colocalize with breast carcinoma.CASE SUMMARY We present a patient with this uncommon tumor and discuss the diagnostic and therapeutic approaches in order to further the knowledge of GCTB and prevent misdiagnosis and overtreatment.The characteristics of the tumor,methods of diagnosis,therapy and postoperative pathological outcomes were analyzed,and relevant literatures of GCTs were reviewed.The patient underwent surgery after core needle biopsy,and the excised neoplasm was sent for pathological examination.Histological analysis revealed nests of cells with abundant pink granular cytoplasm,confirming the diagnosis of GCTB.CONCLUSION As manifestations of GCT and malignancy can mimic each other,a careful histological examination is essential before major surgery.Treatment consisting of complete excision with close clinical follow-up is recommended.

Unilateral post-chemotherapy robot-assisted retroperitoneal lymph node dissection in Stage II non-seminomatous germ cell tumor:A tertiary care experience

Objective Post-chemotherapy retroperitoneal lymph node dissection(PC-RPLND)represents an integral component of the management of patients with non-seminomatous germ cell tumor(NSGCT).Modified templates have been proposed to minimize the surgical morbidity of the procedure.Moreover,the implementation of robotic surgery in this setting has been explored.We report our experience with unilateral post-chemotherapy robot-assisted retroperitoneal lymph node dissection(PC-rRPLND)for clinical Stages IIA and IIB NSGCTs.Methods A retrospective single institution review was performed including 33 patients undergoing PC-rRPLND for Stages IIA and IIB NSGCTs between January 2015 and February 2019.Following orchiectomy,patients were scheduled for chemotherapy with three cycles of bleomycin-etoposide-cisplatin.Patients with a residual tumor of<5 cm and an ipsilateral metastatic disease on pre-and post-chemotherapy CT scans were eligible for a unilateral template in absence of rising tumor markers.Descriptive statistics were provided for demographics,clinical characteristics,intraoperative and postoperative parameters.Perioperative,oncological,and functional outcomes were recorded.Results Overall,7(21.2%)patients exhibited necrosis or fibrosis;14(42.4%)had mature teratoma;and 12(36.4%)had viable tumor at final histology.The median lymph node size at surgery was 25(interquartile range[IQR]21-36)mm.Median operative time was 180(IQR 165-215)min and no major postoperative complications were observed.Anterograde ejaculation was preserved in 75.8%of patients.Median follow-up was 26(IQR 19-30)months and a total of three recurrences were recorded.Conclusion PC-rRPLND is a reliable and technically reproducible procedure with safe oncological outcomes and acceptable postoperative ejaculatory function in well selected patients with NSGCTs.

Management of a rare giant cell tumor of the distal fibula: A case report

BACKGROUND Aggressive giant cell tumor of the distal fibula is so rare that no consensus on a surgical strategy has been reached.Thus,an appropriate treatment strategy is still important to discuss.CASE SUMMARY A 61-year-old man who had been experiencing progressive swelling of the left lateral malleolus accompanied by pain for half a year was presented at our hospital.He had never been treated prior to coming to our hospital.Preoperative imaging revealed a 10 cm×6 cm mass located in the body of the distal fibula.Pathological biopsies confirmed it was a giant cell tumor.Preoperative examination revealed he had dilated cardiomyopathy with class 3 cardiac function.The cardiologist and anesthesiologist determined that he could tolerate the operation,but the operation should be as short and minimally invasive as possible.With the patient’s consent,we performed a tibiotalar fusion and followed up with him for 2years,finding no recurrence and a satisfactory recovery.CONCLUSION Tibial talus fusion is an effective method for the treatment of distal fibula tumors.

Testicular mixed germ cell tumor:A case report

BACKGROUND Testicular mixed germ cell tumors(TMGCTs)are rare malignant tumors that are more common in men aged 20–40 years.TMGCTs comprise two or more types of germ cell tumors that primarily affect the testis.Their onset is undetectable;thus,early diagnosis is challenging.However,early recognition and diagnosis substantially improve patient prognosis.CASE SUMMARY We evaluated a rare case of TMGCT in a male patient presenting with recurrent fever and left supraclavicular lymphadenectasis instead of testicular enlargement and pain,which may easily lead to misdiagnosis.We report the clinical signs and symptoms,histopathological characteristics,and immunohistochemical results of this case of malignant TMGCT.CONCLUSION Our case,which was typical with multiple components,along with a literature review,may serve as a basis for early diagnosis.

Biliary hemorrhage caused by a malignant small round cell tumor in the common bile duct:A case report

BACKGROUND Malignant small round cell tumor(MSRCT)metastasis to the common bile duct associated with recurrent biliary hemorrhage is extremely rare.Thus far,there have been no reports of metastatic small round cell tumors of the common bile duct.CASE SUMMARY Herein,we report the case of a 77-year-old female patient with an MSRCT in the common bile duct.The patient was admitted to hospital due to gastrointestinal hemorrhage and abdominal pain.We found a neoplasm in the common bile duct with active bleeding through a spyglass.We performed biopsy through the spyglass and placed a metal stent to stop bleeding.The pathological result suggested that it was an MSRCT metastasized from the back to the common bile duct.Later,we found using fluorescence in situ hybridization that the SS18 gene break test was negative,ruling out the diagnosis of synovial sarcoma.CONCLUSION MSRCT is a group of tumors with similar cell morphology and diffuse histological structure.Complete tumor resection results in improved survival in patients with MSRCT.Roux-en-Y cholangiojejunostomy was performed.After excision of the common bile duct tumor,the patient felt that the abdominal pain improved and hemorrhage disappeared.The patient underwent routine fecal examination one month after surgery,indicating a negative fecal occult blood test.On May 22,2023,the patient was reexamined by abdominal computed tomography,and no abdominal space occupying lesions or abdominal lymphadenopathy was found.

Granular cell tumor of stomach: A case report and review of literature

Granular cell tumor （GCT） was described for the first time by Abrikosoff in 1926. It is a relatively rare neoplasm that may occur at many sites, but most commonly in the skin or soft tissues. The occurrence of GCT in the gastrointestinal tract is rare, accounting approximately for 8% of all tumors, among which the most common site is the esophagus, whereas gastric localization is very rare. Gastric GCTs can be solitary or, more frequently, associated with other gastrointestinal localization. Although GCTs are usually clinically and histologically benign, some malignant cases have been reported. Histologically, these tumors consist of polygonal and fusiform cells disposed in compact ＂nests＂ and immunohistochemical staining for S-100 protein supports the proposed derivation from Schwann cells. A correct preoperative diagnosis of this tumor can only be made in 50% of all patients and it is always based on endoscopic biopsy. Laparoscopic or conventional wedge resection represents the treatment of choice. In this study, the authors reported a case of a 49-year-old woman with a solitary granular cell tumor of the stomach with infiltrative pattern, successfully treated with surgical resection. A review of literature is also presented with emphasis on diagnostic criteria concerning the malignant form.

Combined resection and multi-agent adjuvant chemotherapy for desmoplastic small round cell tumor arising in the abdominal cavity:Report of a case

Desmoplastic small round cell tumor （DSRCT） is a rare, highly aggressive malignancy with distinctive histological features： a nesting pattern of cellular growth within dense desmoplastic stroma, occurring in young population with male predominance. The mean survival period is only about 1.5-2.5 years. The tumor has co-expressed epithelial, muscle, and neural markers in immunohistochemical studies. This work reports a 27-year-old man presenting with hematemesis and chronic constipation. Serial studies including endoscopy, upper gastrointestinal series, abdominal computed tomography and barium enema study showed disseminated involvement of visceral organs. The patient underwent aggressive surgery and received postoperative adjuvant chemotherapy consisting of 5-fluorouracil, cyclophosphamide, etoposide, doxorubicin, and cisplatin. He survived without any disease for 20 mo after the surgery. No standard treatment protocol has been established. Aggressive surgery combined with postoperative multi-agent adjuvant chemotherapy is justified not only to relieve symptoms but also to try to improve the outcome in this advanced DSRCT young patient.

Osteoclast-like giant cell tumors of the pancreas and liver

Osteoclast-like giant cell tumors （OGCT） are rare abdominal tumors, which mainly occur in the pancreas. The neoplasms are composed of two distinct cell populations and frequently show an inhomogenous appearance with cystic structures. However, due to the rarity of these tumors, only very limited clinical data are available. Imaging features and sonographic appearance have hardly been characterized. Here we report on two cases of osteoclast-like giant cell tumors, one located within the pancreas, the other within the liver, in which OGCTs are extremely rare. Both patients were investigated by contrast sonography, which demonstrated a complex, partly cystic and strongly vascularized tumor within the head of the pancreas in the first patient and a large, hypervascularized neoplasm with calcifications within the liver in the second patient. The liver OGCT responded well to a combination of carboplatin, etoposide and paclitaxel. With a combination of surgical resection, radiofrequency ablation and chemotherapy, the patient＇s survival is currently more than 15 too, making him the longest survivor with an OGCT of the liver to date.

Clinical and computed tomography features of adult abdominopelvic desmoplastic small round cell tumor

To investigate the clinical and computed tomography(CT)features of desmoplastic small round cell tumor(DSRCT),we retrospectively analyzed the clinical presentations,treatment and outcome,as well as CT manifestations of four cases of DSRCT confirmed by surgery and pathology.The CT manifestations of DSRCT were as follows:(1)multiple soft-tissue masses or diffuse peritoneal thickening in the abdomen and pelvis,with the dominant mass usually located in the pelvic cavity;(2)masses without an apparent organbased primary site;(3)mild to moderate homogeneous or heterogeneous enhancement in solid area on enhanced CT;and(4)secondary manifestations,such as ascites,hepatic metastases,lymphadenopathy,hydronephrosis and hydroureter.The prognosis and overall survival rates were generally poor.Commonly used treatment strategies including aggressive tumor resection,polychemotherapy,and radiotherapy,showed various therapeutic effects.CT of DSRCT shows characteristic features that are helpful in diagnosis.Early discovery and complete resection,coupled with postoperative adjuvant chemotherapy,are important for prognosis of DSRCT.Whole abdominopelvic rather than locoregional radiotherapy is more effective for unresectable DSRCT.

Hepatic perivascular epithelioid cell tumor in three patients

Perivascular epithelioid cell tumor （PEComa） is a rare, soft tissue tumor that can occur in various locations. The present report included three patients （one male and two females; age range, 25-51 years） with hepatic PEComas. The collected data included the clinical manifestations, diagnosis, management, treatment, and prognosis. Since it is difficult to diagnose hepatic PEComas by imaging, the patients were diagnosed by tumor tissue examination such as immunohistochemistry, which was positive for HMB-45, Melan-A, and SMA on all slides. The tumor was composed of diverse tissues including smooth muscle, adipose tissue, and thick-walled blood vessels. During the follow-up period, one of the tumors was malignant （double-positive for CD34 and Ki-67） and recurred 3 months after surgery. In addition, malignant hepatic PECo- mas were reviewed in the literature, indicating that the majority of hepatic PEComas are benign, but few hepatic PEComas exhibit malignant behaviors in older female patients （〉50 years of age） with abdominal discomfort and pain, larger tumor size （〉10 cm）, or positive staining for CD34 and Ki-67. In conclusion, there is no effective method to diagnose PEComas. Currently, the diagnosis of PEComas depends on immunohistochemical staining. Tumor resection and close follow-up are the principal methods for the management of PEComas.

Low hypoxia inducible factor-1α(HIF-1α)expression in testicular germ cell tumors--a major reason for enhanced chemosensitivity?

The molecular basis for enhanced chemosensitivity of testicular germ cell tumors （GCT） has been an area of great interest, as it could potentially give us therapeutic leads in other resistant malignancies. Thus far, however, the increased sensitivity of C＆T has been variously attributed to multiple factors -- an inability to detoxify cisplatin, a lack of export pumps, an inability to repair the DNA damage, an intact apoptotic cascade and lack of p53 mutation; but a unifying underlying etiology leading to the aforementioned processes and having a translational implication has so far been elusive. Herein, we offer evidence to support a potential significant role for the previously demonstrated low hypoxia inducible factor-la （HIF-la） expression in mediating the general exquisite chemosensitivity of testicular GCT, through the aforementioned processes. This molecular mechanism based hypothesis could have a significant translational implication in platinum refractory GCT as well as other platinum resistant malignancies.

Esophageal granular cell tumors:Report of 9 cases and a literature review

Esophageal granular cell tumors(GCTs) are rare tumors of the esophagus.We evaluated the clinical and pathologic features of 9 esophageal GCT patients(5 men and 4 women) from our institute and reviewed the related disease literature.Patient age ranged from 25 to 53 years(mean:41 years).All the patients were asymptomatic or presented with non-specific symptoms.Most GCTs occurred in the distal esophagus and were less than 6 mm in diameter.Computational analysis showed that the average gray-scale endoscopic ultrasound images of esophageal GCTs were greater than that of esophageal leiomyomas.Eight patients were treated by endoscopic resection,and 1 patient underwent surgical excision.No post-therapy recurrence or metastasis developed during follow-up(mean:36.4 mo,range:1-72 mo).

A perivascular epithelioid cell tumor of the stomach:An unsuspected diagnosis

Perivascular epithelioid cell tumor(PEComa) is a rare mesenchymal neoplasia and currently well recognized as a distinct entity with characteristic morphological,immunohistochemical and molecular findings.We report a case of PEComa arising in the antrum of a 71-year-old female with melena.The tumor,located predominantly in the submucosa as a well delimited nodule,measured 3.0 cm in diameter and was completely resected,with no evidence of the disease elsewhere.Histologically,it was composed predominantly of eosinophilic epithelioid cells arranged in small nests commonly related to variably sized vessels,with abundant extracellular material,moderate nuclear variation and discrete mitotic activity.No necrosis,angiolymphatic invasion or perineural infil-tration was seen.Tumor cells were uniformly positive for vimentin,smooth muscle actin,desmin and melan A.Although unusual,PEComa should be considered in the differential diagnosis of gastric neoplasia with characteristic epithelioid and oncocytic features and prominent vasculature.