1.Atypical metastatic presentation of sporadic clear cell renal cell carcinoma: Anindolent unilateral intranasal mass in a 60-year-old male with recurrent epistaxis
Eldimson Bermudo ; Jon Paolo Tan ; Randell Arias ; Al-zamzam Abubakar
Philippine Journal of Pathology 2025;10(1):37-42
Renal cell carcinoma (RCC) is notorious for its propensity to metastasize even after a prolonged period of remission following nephrectomy. The metastatic spread can occur months or even years after initial treatment, which necessitates a heightened level of clinical awareness and vigilance in patients with a history of renal malignancy, particularly who present with new or unexplained nasal symptoms. Although RCC most commonly metastasize to the lungs, bones and liver, its involvement in the nasal cavity is exceedingly rare, posing significant diagnostic challenges due to the non-specific nature of symptoms. We describe a case of metastatic renal cell clear cell carcinoma presenting with recurrent epistaxis and unilateral nasal obstruction. Immunohistochemistry studies play a crucial role in confirming the diagnosis and ruling out potential differential diagnoses, along with a comprehensive clinical history of the patient.
Human ; Male ; Middle Aged: 45-64 Yrs Old ; Clear Cell Renal Cell Carcinoma ; Carcinoma, Renal Cell ; Metastasis ; Neoplasm Metastasis ; Nasal Cavity ; Epistaxis
2.Renal cell carcinoma, clear cell type with secondary polycythemia in a young Filipino male: A case report
Hanna Claire P. Bejarasco ; Ramcis Pelegrino
Philippine Journal of Internal Medicine 2024;62(1):320-325
Introduction:
Clear Cell Renal Cell Carcinoma, a renal cortical tumor characterized by malignant epithelial cells with clear
cytoplasm and compact alveolar or acinar growth pattern interspersed with intricate arborizing vasculature.1 This is rare in
people less than 45 years old. Though it has varied clinical manifestations, its classical triad: abdominal mass, hematuria,
and groin pain only present in four to 17% of cases.2 We therefore present a case of renal cell carcinoma occurring in an
unusual age group who presented with vague gastrointestinal symptoms and polycythemia which accounts only less than
5% of cases.3
Case Presentation:
This is a case of a 28-year-old Filipino male who presented with epigastric pain with abdominal fullness
and anorexia who later complained of frequent vomiting after solid and liquid intake. CBC revealed polycythemia.
Gastroscopy with biopsy showed esophagitis Los Angeles classification Grade A and duodenal mass obstructing 95% of
the lumen. Computed tomographic scan of whole abdomen revealed large renal mass, right of 15.9x9.35x11.34cm
extending superiorly at the antropyloric region causing gastric luminal narrowing down to first and second segments of
duodenum with a 4.2cm enlarged lymph node in aortocaval area. Magnetic resonance imaging revealed a huge complex
right renal mass of 12x12x10cm in size extending beyond Gerota’s fascia with 8x5.2x6.2cm lymph node compressing the
vena cava. Right radical nephrectomy was done for both supportive management to relieve the obstruction and for
histologic diagnosis which revealed clear cell renal cell carcinoma. JAK2 gene mutation test was done to determine the
cause of polycythemia and phlebotomy was performed to address the problem.
Conclusion
This case presents with vague gastrointestinal symptoms which is atypical of renal cell carcinoma, hence
highlights the importance of properly investigating its cause. Furthermore, a multidisciplinary approach involving different
subspecialties plays a significant role in the diagnosis and management in this patient.
Carcinoma, Renal Cell
;
Polycythemia
3.Progress in targeted inhibition of aerobic glycolysis combined with immunotherapy for renal cell carcinoma.
Kun ZHANG ; Mengyao RU ; Jiayuan WANG ; Jumei ZHAO ; Lan SHEN
Chinese Journal of Cellular and Molecular Immunology 2024;40(1):74-79
Tumor aerobic glycolysis is one of the main features of tumor metabolic reprogramming. This abnormal glycolytic metabolism provides bioenergy and biomaterials for tumor growth and proliferation. It is worth noting that aerobic glycolysis will not only provide biological materials and energy for tumor cells, but also help tumor cells to escape immune surveillance through regulation of immune microenvironment, thereby resisting tumor immunotherapy and promoting tumor progression. Based on the pathogenesis of renal cell carcinoma, this paper describes the characteristics of aerobic glycolysis, the effect of glycolytic metabolism on the immune microenvironment of renal cell carcinoma, the effect of glycolysis inhibitors on the immune microenvironment of renal cell carcinoma, and the prospect of glycolysis inhibitors combined with immune checkpoint inhibitors in the treatment of renal cell carcinoma.
Humans
;
Carcinoma, Renal Cell/therapy*
;
Immunotherapy
;
Glycolysis
;
Metabolic Reprogramming
;
Kidney Neoplasms/therapy*
;
Tumor Microenvironment
4.Application of Intraoperative Transesophageal Echocardiography in the Treatment of Renal Cell Carcinoma with Inferior Vena Cava Tumor Thrombus.
Jiang-Hua JIA ; Xu-Ze LI ; Feng WANG ; Ming ZHANG ; Qing-Song MENG ; Zi-Yue MA ; Xin WANG
Acta Academiae Medicinae Sinicae 2023;45(1):28-32
Objective To investigate the value of intraoperative transesophageal echocardiography (TEE) in the diagnosis and treatment of renal cell carcinoma with inferior vena cava tumor thrombus. Methods Ten patients of renal cell carcinoma with inferior vena cava tumor thrombus treated in the Second Hospital of Hebei Medical University from January 2017 to January 2021 were selected.TEE was employed to locate the position of the tumor thrombus,determine the occlusion point of the inferior vena cava,count the intraoperative tumor thrombus shedding rate,examine the tumor thrombus resection integrity,and measure blood loss and other indicators,on the basis of which the application value of TEE in the operation of renal cell carcinoma with inferior vena cava tumor thrombus was evaluated. Results All the 10 patients had completed the operations successfully,including 8 patients of open operation and 2 patients of laparoscopic operation.TEE showed tumor thrombi clearly,and all the tumor thrombi were completely removed.There was no tumor thrombus shedding during the operation.The blood loss varied within the range of 300-800 ml,with the mean of (520.0±193.2) ml.The grade III tumor thrombi in 2 patients and the grade I tumor thrombus in 1 patient diagnosed before operation were reduced to grade Ⅱ and upgraded to grade Ⅱ,respectively,by TEE.One patient had no floating tumor thrombus at the end of tumor thrombus before operation,and the blocking position was adjusted in time with the assistance of TEE to avoid the shedding of the floating tumor thrombus. Conclusion TEE can accurately determine and dynamically monitor the location and shape of inferior vena cava tumor thrombus,which provides an important reference and has a significant clinical value in the operation of renal cell carcinoma with inferior vena cava tumor thrombus.
Humans
;
Carcinoma, Renal Cell/surgery*
;
Echocardiography, Transesophageal
;
Vena Cava, Inferior
;
Echocardiography
;
Kidney Neoplasms/surgery*
5.Pre-operative prognostic nutritional index as a predictive factor for prognosis in non-metastatic renal cell carcinoma treated with surgery.
Quan ZHANG ; Hai Feng SONG ; Bing Lei MA ; Zhe Nan ZHANG ; Chao Hui ZHOU ; Ao Lin LI ; Jun LIU ; Lei LIANG ; Shi Yu ZHU ; Qian ZHANG
Journal of Peking University(Health Sciences) 2023;55(1):149-155
OBJECTIVE:
To evaluate the implications of the prognostic nutrition index (PNI) in non-metastatic renal cell carcinoma (RCC) patients treated with surgery and to compare it with other hematological biomarkers, including neutrophil to lymphocyte ratio (NLR), platelet to lymphocyte ratio (PLR), and systemic immune inflammation index (SII).
METHODS:
A cohort of 328 non-metastatic RCC patients who received surgical treatment between 2010 and 2012 at Peking University First Hospital was analyzed retrospectively. Receiver operating characteristic (ROC) curve analysis was used to determine the optimal cutoff values of the hematological biomarkers. The Youden index was maximum for PNI was value of 47.3. So we divided the patients into two groups (PNI≤ 47. 3 and >47. 3) for further analysis. Categorical variables [age, gender, body mass index (BMI), surgery type, histological subtype, necrosis, pathological T stage and tumor grade] were compared using the Chi-square test and Student' s t test. The association of the biomarkers with overall survival (OS) and disease-free survival (DFS) was analyzed using Kaplan-Meier methods with log-rank test, followed by multivariate Cox proportional hazards model.
RESULTS:
According to the maximum Youden index of ROC curve, the best cut-off value of PNI is 47. 3. Low level of PNI was significantly associated with older age, lower BMI and higher tumor pathological T stage (P < 0.05). Kaplan-Meier univariate analysis showed that lower PNI was significantly correlated with poor OS and DFS (P < 0.05). In addition, older age, lower BMI, tumor necrosis, higher tumor pathological T stage and Fuhrman grade were significantly correlated with poor OS (P < 0.05). Cox multivariate analysis showed that among the four hematological indexes, only PNI was an independent factor significantly associated with OS, whether as a continuous variable (HR=0.9, 95%CI=0.828-0.978, P=0.013) or a classified variable (HR=2.397, 95%CI=1.061-5.418, P=0.036).
CONCLUSION
Low PNI was a significant predictor for advanced pathological T stage, decreased OS, or DFS in non-metastatic RCC patients treated with surgery. In addition, PNI was superior to the other hematological biomar-kers as a useful tool for predicting prognosis of RCC in our study. It should be externally validated in future research before the PNI can be used widely as a predictor of RCC patients undergoing nephrectomy.
Humans
;
Prognosis
;
Nutrition Assessment
;
Carcinoma, Renal Cell/surgery*
;
Retrospective Studies
;
Biomarkers
;
Kidney Neoplasms/pathology*
6.Global incidence and mortality of renal cell carcinoma in 2020.
Ming HU ; Jun Yan FAN ; Xiong ZHOU ; Guang Wen CAO ; Xiaojie TAN
Chinese Journal of Epidemiology 2023;44(4):575-580
Objective: To analyze the global epidemiology of renal cell carcinoma (RCC) in 2020. Methods: The incidence and mortality data of RCC in the cooperative database GLOBOCAN 2020 of International Agency for Research on Cancer of WHO and the human development index (HDI) published by the United Nations Development Programme in 2020 were collated. The crude incidence rate (CIR), age-standardized incidence rate (ASIR), crude mortality rate (CMR), age-standardized mortality rate (ASMR) and mortality/incidence ratio (M/I) of RCC were calculated. Kruskale-Wallis test was used to analyze the differences in ASIR or ASMR among HDI countries. Results: In 2020, the global ASIR of RCC was 4.6/100 000, of which 6.1/100 000 for males and 3.2/100 000 for females and ASIR was higher in very high and high HDI countries than that in medium and low HDI countries. With the rapid increase of age after the age of 20, the growth rate of ASIR in males was faster than that in females, and slowed down at the age of 70 to 75. The truncation incidence rate of 35-64 years old was 7.5/100 000 and the cumulative incidence risk of 0-74 years old was 0.52%. The global ASMR of RCC was 1.8/100 000, 2.5/100 000 for males and 1.2/100 000 for females. The ASMR of males in very high and high HDI countries (2.4/100 000-3.7/100 000) was about twice that of males (1.1/100 000-1.4/100 000) in medium and low HDI countries, while the ASMR of female (0.6/100 000-1.5/100 000) did not show significant difference. ASMR continued to increase rapidly with age after the age of 40, and the growth rate of males was faster than that of females. The truncation mortality rate of 35-64 years old was 2.1/100 000, and the cumulative mortality risk of 0-74 years old was 0.20%. M/I decreases with the increase of HDI, with M/I as 0.58 in China, which was higher than the global average of 0.39 and the United States' 0.17. Conclusion: The ASIR and ASMR of RCC presented significant regional and gender disparities globally, and the heaviest burden was in very high HDI countries.
Male
;
Humans
;
Female
;
Adult
;
Middle Aged
;
Infant, Newborn
;
Infant
;
Child, Preschool
;
Child
;
Adolescent
;
Young Adult
;
Aged
;
Carcinoma, Renal Cell/epidemiology*
;
Incidence
;
Databases, Factual
;
China
;
Kidney Neoplasms/epidemiology*
;
Global Health
8.Expression of GPNMB in renal eosinophilic tumors and its value in differential diagnosis.
Ya WANG ; Meng Yue HOU ; Yao FU ; Kui MENG ; Hong Yan WU ; Jin CHEN ; Yue Mei XU ; Jiong SHI ; Xiang Shan FAN
Chinese Journal of Pathology 2023;52(4):358-363
Objective: To investigate the expression of glycoprotein non metastatic melanoma protein B (GPNMB) in renal eosinophilic tumors and to compare the value of GPNMB with CK20, CK7 and CD117 in the differential diagnosis of renal eosinophilic tumors. Methods: Traditional renal tumor eosinophil subtypes, including 22 cases of renal clear cell carcinoma eosinophil subtype (e-ccRCC), 19 cases of renal papillary cell carcinoma eosinophil subtype (e-papRCC), 17 cases of renal chromophobe cell carcinoma eosinophil subtype (e-chRCC), 12 cases of renal oncocytoma (RO) and emerging renal tumor types with eosinophil characteristics [3 cases of eosinophilic solid cystic renal cell carcinoma (ESC RCC), 3 cases of renal low-grade eosinophil tumor (LOT), 4 cases of fumarate hydratase-deficient renal cell carcinoma (FH-dRCC) and 5 cases of renal epithelioid angiomyolipoma (E-AML)], were collected at the Affiliated Drum Tower Hospital of Nanjing University Medical School from January 2017 to March 2022. The expression of GPNMB, CK20, CK7 and CD117 was detected by immunohistochemistry and statistically analyzed. Results: GPNMB was expressed in all emerging renal tumor types with eosinophil characteristics (ESC RCC, LOT, FH-dRCC) and E-AML, while the expression rates in traditional renal eosinophil subtypes e-papRCC, e-chRCC, e-ccRCC and RO were very low or zero (1/19, 1/17, 0/22 and 0/12, respectively); the expression rate of CK7 in LOT (3/3), e-chRCC (15/17), e-ccRCC (4/22), e-papRCC (2/19), ESC RCC (0/3), RO (4/12), E-AML(1/5), and FH-dRCC (2/4) variedly; the expression of CK20 was different in ESC RCC (3/3), LOT(3/3), e-chRCC(1/17), RO(9/12), e-papRCC(4/19), FH-dRCC(1/4), e-ccRCC(0/22) and E-AML(0/5), and so did that of CD117 in e-ccRCC(2/22), e-papRCC(1/19), e-chRCC(16/17), RO(10/12), ESC RCC(0/3), LOT(1/3), E-AML(2/5) and FH-dRCC(1/4). GPNMB had 100% sensitivity and 97.1% specificity in distinguishing E-AML and emerging renal tumor types (such as ESC RCC, LOT, FH-dRCC) from traditional renal tumor types (such as e-ccRCC, e-papRCC, e-chRCC, RO),respectively. Compared with CK7, CK20 and CD117 antibodies, GPNMB was more effective in the differential diagnosis (P<0.05). Conclusion: As a new renal tumor marker, GPNMB can effectively distinguish E-AML and emerging renal tumor types with eosinophil characteristics such as ESC RCC, LOT, FH-dRCC from traditional renal tumor eosinophil subtypes such as e-ccRCC, e-papRCC, e-chRCC and RO, which is helpful for the differential diagnosis of renal eosinophilic tumors.
Humans
;
Kidney Neoplasms/pathology*
;
Carcinoma, Renal Cell/pathology*
;
Diagnosis, Differential
;
Angiomyolipoma/diagnosis*
;
Biomarkers, Tumor/metabolism*
;
Leukemia, Myeloid, Acute/diagnosis*
;
Membrane Glycoproteins
10.Fumarate hydratase deficient uterine leiomyoma: a clinicopathological and molecular analysis of 80 cases.
Xiao Xi WANG ; Yan LIU ; Ling Chao LIU ; Yu Xiang WANG ; Jing YANG ; A Jin HU ; Bo ZHANG ; Cong Rong LIU
Chinese Journal of Pathology 2023;52(6):574-579
Objective: To investigate the clinicopathologic and molecular characteristics of fumarate hydratase (FH) deficient uterine leiomyoma. Methods: Eighty cases of FH deficient uterine leiomyoma were diagnosed from April 2018 to September 2022 in Department of Pathology, Peking University Third Hospital. Sanger sequencing of FH gene exons (exon 1-10) were performed on tumor tissues and matched non-tumor tissues/peripheral blood for all cases. FH immunohistochemistry were performed in 74 cases; S-(2-succino)-cysteine (2SC) were also detected by immunohistochemistry in five cases. Results: Patients' age ranged from 18 to 54 (36.0±7.5) years, with more than 60% exhibiting clinical symptoms of multiple and large leiomyomas (the median diameter was 70 mm). More than four histologic features, including staghorn vasculature, alveolar-pattern edema, bizarre nuclei, oval nuclei arranged in chains, prominent eosinophilic nucleoli with perinucleolar haloes and eosinophilic intracytoplasmic globules were observed in 98.5% (67/68) patients. The immunohistochemical sensitivity of FH and 2SC were 97.3% and 100%, respectively. Based on the Sanger sequencing results, the cases were divided into germline variant group (31 cases), somatic variant group (29 cases) and no variant group (20 cases). Sixty-nine percent (20/29) of the patients with FH germline variation had clear family history. Conclusions: Clinical features, histological morphology, FH and 2SC immunohistochemistry and Sanger sequencing have their own significance and limitations in differential diagnosis of FH deficient uterine leiomyoma. In clinical practice, the above information should be fully integrated and studied for accurate pathologic diagnosis and selection of patients with FH germline variation.
Female
;
Humans
;
Adolescent
;
Young Adult
;
Adult
;
Middle Aged
;
Fumarate Hydratase/genetics*
;
Uterine Neoplasms/pathology*
;
Leiomyoma/pathology*
;
Germ-Line Mutation
;
Diagnosis, Differential
;
Leiomyomatosis/pathology*
;
Carcinoma, Renal Cell/diagnosis*


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