Single nucleotide polymorphism (SNP) chromosomal microarray as a diagnostic tool for mucinous tubular and spindle cell carcinoma: A validation study.

Mucinous tubular and spindle cell carcinoma (MTSCC) shows significant overlap with papillary renal cell carcinoma (PRCC), and harbor recurrent copy-number alterations (CNA). We evaluated 16 RCC with features suggestive of MTSCC using chromosomal microarrays. The cohort was comprised of 8 females and males, each, with an age range of 33-79 years (median, 59), and a tumor size range of 3.4-15.5 cm (median, 5.0). Half the tumors were high-grade (8/16, 50%) with features such as necrosis, marked cytologic atypia, and sarcomatoid differentiation, and 5/16 (31%) were high stage (≥pT3a). Three (of 16, 19%) cases had a predominant (>95%) spindle cell component, whereas 5/16 (31%) were composed of a predominant (>95%) epithelial component. Most cases (12/16, 75%) exhibited a myxoid background and/or extravasated mucin, at least focally. Twelve (of 16, 75%) cases demonstrated CNA diagnostic of MTSCC (losses of chromosomes 1, 4, 6, 8, 9, 13, 14, 15, and 22). In addition, 2 high-grade tumors showed loss of CDKN2A/B, and gain of 1q, respectively, both of which are associated with aggressive behavior. Three (of 16, 19%) cases, demonstrated nonspecific CNA, and did not meet diagnostic criteria for established RCC subtypes. One (of 16, 6%) low-grade epithelial predominant tumor (biopsy) demonstrated characteristic gains of 7, 17, and loss of Y, diagnostic of PRCC. MTSCC can be a morphologically heterogenous tumor. Our study validates the detection of characteristic chromosomal CNA for diagnostic use that may be useful in challenging cases with unusual spindle cell or epithelial predominant features, as well as in high-grade tumors.

Mucinous tubular and spindle cell carcinoma of the kidney: A case report and concise review of literature

@#Mucinous tubular and spindle cell carcinoma (MTSCC) is a rare neoplasm of the kidney. Recognition of this rare entity is important with regards to a patient’s prognosis and therapeutic management.

Indolent mucinous tubular and spindle cell carcinoma of the kidney: A case report and review of the literature.

Mucinous tubular and spindle cell carcinoma of the kidney (MTSCC) is a rare subtype of renal cancer. It consists of tubules separated by mucus stroma and a spindle cell. Few cases have been reported; thus, the imaging features of MTSCC are not well characterized. An MTSCC in the left kidney of a 65-year-old woman was incidentally discovered during a medical checkup. A review of the patient's medical history revealed that this kidney lump had an indolent growth process. The current study presented this case and reviewed the pathological features, imaging findings and treatment options of MTSCC to strengthen the recognition of this rare renal neoplasm by radiologists.

Mucinous tubular and spindle cell carcinoma of the kidney: a report of seven cases.

OBJECTIVE: To further analyse the imaging features and tumour outcomes of mucinous tubular and spindle cell carcinoma (MTSCC) of the kidney. MATERIALS AND METHODS: The current study retrospectively reviewed the clinical information of seven patients diagnosed with MTSCC at our institution from January 2011 to March 2023. RESULTS: The median age at diagnosis was 52 years (range, 32-66 years) and the majority of patients were female (71.4%). On conventional abdominal ultrasound, the majority of the tumours (5/7) were heterogeneous hypoechoic or slightly hypoechoic. Colour Doppler flow imaging showed blood flow within the tumour in 2 cases and peripheral blood flow signal in 1 case. On non-enhanced CT, all tumours had a spherical or ovoid shape, with an expansile growth mode, and had clear or unclear boundaries with the surrounding renal parenchyma. The tumours were either partially exophytic (n = 4) or parenchymal (n = 3), while no cases of completely exophytic tumour was observed (n = 0). On contrast-enhanced CT, the majority of tumours (5/7) showed a heterogenous pattern of enhancement and the mean tumour diameter was 6.7 ± 4.4 cm (range, 2.1-16.8 cm). All patients underwent partial or radical nephrectomy for pT1a (42.9%), pT1b (28.5%), pT2 (14.3%) or pT3b (14.3%) stage. Among these, 1 patient (14.3%) had a level I tumour thrombus at diagnosis and died of disease 24.5 months later. The remaining patients had no recurrence or metastasis. CONCLUSION: MTSCC is not universally indolent, which tends to occur in female patients of a broad range of ages. MTSCC is a hypovascular renal tumour, which is different from clear cell renal cell carcinoma (RCC); however, it is difficult to distinguish MTSCC from other hypovascular RCC subtypes because of the overlap of their imaging characteristics.

Long-time Survival of a Renal Transplant Recipient With Metastatic Mucinous Tubular and Spindle Cell Carcinoma: A Case Report.

BACKGROUND/AIM: Mucinous tubular and spindle cell carcinoma (MTSCC) of the kidney is a rare histological type of renal cell carcinoma (RCC). There are few reports of MTSCC occurring in renal transplant recipients (RTRs). The aim of this study was to report a case of long-term survival of a RTR with metastatic MTSCC of the kidney with sarcomatoid changes. CASE REPORT: A 53-year-old male with a left retroperitoneal tumor was referred to our department. He had been receiving hemodialysis since 1991 and underwent kidney transplantation in 2015. Computed tomography (CT) revealed suspected RCC, and a radical nephrectomy was performed in June 2020. Pathological findings revealed MTSCC with sarcomatoid changes. After the surgery, multiple metastases appeared in the bilateral adrenals, skin, para-aortic lymph nodes, muscles, mesocolon, and liver. We treated the patient with metastasectomy, radiation therapy, and sequential systemic therapy with tyrosine kinase inhibitors (TKI). Two years after the initial surgery, the patient died of cancer while controlling its progression. CONCLUSION: We report a RTR with aggressive and metastatic MTSCC with sarcomatoid changes, resulting in a longer survival time relative to multimodal therapy.

Clinicopathological characteristics and prognosis analysis of mucinous tubular and spindle cell carcinoma of the kidney / 中华泌尿外科杂志

Objective:To explore the clinicopathological features and prognosis of renal mucinous tubular spindle cell carcinoma (MTSCC).Methods:The clinical data of 16 patients with MTSCC admitted to the First Affiliated Hospital of Zhengzhou University from July 2013 to July 2022 were retrospectively analyzed. There were six male cases and ten female cases. The mean age was (56.4±11.4) years old. Among them, 10 cases were asymptomatic, two complained of hematuria, three complained of lumbar pain, and one complained of lower limb pain. Twelve cases underwent preoperative enhanced CT examination, 6 cases of ultrasound examination, 3 cases of MRI examination, and 1 case of bone scan. Imaging manifestations showed that the masses were round or round-like with clear borders. Two cases combined with hemorrhage and three cases combined with calcification. Five cases showed exophytic growth, 10 cases partially exophytic, and 1 case completely endophytic. The maximum diameter of the tumor was (65.7±27.4) mm. The tumors were located in the left kidney in 11 cases and in the right kidney in 5 cases. The tumors were mildly delayed-enhancing under enhanced CT, long/short T1 signal mixed with long/short T2 signal under MRI, and diffusion-limited high signal under DWI. The tumors were hypoechoic masses without obvious blood flow signals under ultrasound. Twelve cases were diagnosed as renal occupying neoplasms, 2 cases were suggested as lack of blood supply renal tumor, and one was considered renal tumor rupture and bleeding. In one case, a bone scan suggested metastasis to the thoracic spine and pelvis. The metastatic renal tumor was diagnosed, and a renal puncture was performed to clarify the pathology. Eleven patients underwent laparoscopic radical nephrectomy, and 4 patients underwent partial nephrectomy. One case was metastasized without surgery and treated with apatinib mesylate and zoledronic acid.Results:The postoperative pathological specimens showed grayish, grayish-yellow, or grayish-red masses with a soft or medium texture. No perinephric, ureteral, or adrenal invasion was seen in all tumors. Microscopically, the tumor cells were round and ovoid. The tumor cells were arranged in tubular and striated shapes, and mucus pools were locally visible. No sarcomatous component was seen in all tumors. There were 9 patients with pT 1N 0M 0, 6 patients with pT 2N 0M 0, and 1 patient with pT 1N 0M 1. After operation, 2 patients with pT 2N 0M 0, who underwent laparoscopic radical nephrectomy were treated with pazopanib and sunitinib, respectively. All patients were followed up for a median of 50.7(25.8, 75.0)months, 15 patients were free of recurrent metastases, and 1 patient with pre-puncture metastasis died due to tumor progression of multiple pulmonary and bone metastases, with a survival of 16.9 months. Conclusions:Renal MTSCC is rare, mostly found on physical examination, with female patients predominantly, and imaging shows a lack of blood supply tumor. Surgery is the primary treatment method. Partial nephrectomy or radical nephrectomy could be chosen according to the tumor stage, kidney function, and patient's underlying condition, and patients have a good prognosis.

Large mucinous tubular and spindle cell carcinoma of left kidney: a case report / 中华泌尿外科杂志

In November 2019, we received and treated a patient with MTSCC of the left kidney. The tumor was located at the upper pole of the left kidney, with a size of 23.3 cm×18.0 cm×21.8 cm. She underwent transperitoneal radical nephrectomy. There was no local recurrence or distant metastasis during the follow-up of 3 years and 2 months. MTSCC of the kidney is a rare subtype of renal carcinoma, with slower disease progression, a clear and smooth rim, and fewer invasion or metastasis. Its final diagnosis should depend on pathology examination. Surgical treatment is the only effective intervention for this disease at present.

Mucinous Tubular and Spindle Cell Renal Cell Carcinoma (MTSC-RCC) with an Unusual Presentation in a Child.

Mucinous tubular and spindle cell renal cell carcinoma (MTSC-RCC) is a rare but favorable variant of renal cell carcinoma, predominantly found in adults. Complete surgical excision is the treatment of choice. We are reporting an intriguing case of bilateral MTSC-RCC in a 13-year-old-boy with rapid disease progression, leading to metastatic disease and subsequent demise of the child.

A Case Report: Mucinous Tubular and Spindle Cell Carcinoma of Kidney with Spindle Cell Predominance Mimicking Mesenchymal Tumour.

Mucinous tubular and spindle cell carcinoma (MTSCC) of kidney is a rare variant of renal cell carcinoma which was first described in the 2004 World Health Organization classification of tumours of the kidney. Morphologically, MTSCC is composed of tubules merging with bland-appearing spindle cells in a myxoid/mucinous stroma. Diverse morphological patterns have been reported in MTSCC; however, a spindle cell predominant morphology mimicking a mesenchymal tumour is rare and only two cases have been reported so far. We report a case of MTSCC with spindle cell predominance in kidney which was a diagnostic challenge. Though MTSCC usually shows an indolent course, there have been cases showing aggressive behaviour even with bland morphology. Hence, a thorough histopathological evaluation with ancillary studies are required to differentiate spindle cell predominant MTSCC from its mimics. Our case was a 40-year-old female who was incidentally found to have a well-defined hypodense lesion measuring around 2 cm in the upper pole of the right kidney. Right partial nephrectomy was performed which showed a 2.7 × 2.5 × 2 cm well-defined grey tan tumour without necrosis or haemorrhage, limited to kidney. Histopathological examination showed sheets of bland-appearing spindle cells mimicking a mesenchymal tumour. The tumour was extensively sampled, revealing small foci of tubule formation and mucinous stroma. Tumour cells were positive for CK7, AMACR, and PAX8. A final diagnosis of MTSCC was made. Hereby, we discuss ways of differentiating MTSCC from other spindle cell tumours of the kidney.

High-Grade Renal Mucinous Tubular and Spindle Cell Carcinoma.

Mucinous tubular and spindle cell carcinoma (MTSCC) is a rare subtype of renal cell carcinoma. Although usually indolent, high-grade MTSCC has been reported to exhibit an aggressive clinical course. Herein, we report a case of high-grade renal MTSCC. An 86-year-old man visited our hospital with fever and fatigue. Based on contrast-enhanced computed tomography findings, the patient was diagnosed with clinical stage T2aN0M0 right renal cell carcinoma and underwent laparoscopic radical nephrectomy. Histological examination showed tubular to tubulopapillary structures accompanied by mucinous stroma, suggesting high-grade renal MTSCC. He remained recurrence- and metastasis-free 6 months after nephrectomy. Since high-grade renal MTSCC may have an aggressive clinical course, such patients should be observed carefully after radical nephrectomy.

Mucinous tubular and spindle cell carcinomas of the kidney (MTSCC-Ks): CT and MR imaging characteristics.

PURPOSE: To strengthen the recognition of mucinous tubular and spindle cell carcinomas of the kidney (MTSCC-Ks) by analyzing CT and MR imaging findings of MTSCC-Ks. MATERIALS AND METHODS: This study retrospectively enrolled ten patients with pathologically confirmed MTSCC-Ks from 2007 to 2020. The main observed imaging characteristics included growth pattern, signal characteristics on T2-weighted imaging (T2WI) and diffusion-weighted imaging (DWI), hemorrhage, necrosis, cystic degeneration, lipid component, pseudocapsule and the enhancement pattern. Apparent diffusion coefficient (ADC) value of MTSCC-Ks and normal renal cortex were measured, respectively. All imaging features were evaluated in consensus by two genitourinary radiologists. RESULTS: All patients (53.1 ± 6.5 years, male to female, 3:7) presented with a solitary renal tumor with the mean diameter of 3.5 ± 0.4 cm. All lesions showed iso- or slight hypoattenuation on non-contrast CT with no hemorrhage but cystic degeneration (10%) and necrosis (10%). On T2WI, all lesions showed predominantly slight hypointensity with focal hyperintensity. The ADC value of MTSCC-Ks was 0.845 ± 0.017 × 10-3 mm2/s, and ADCtumor-to-ADCrenal cortex value was 0.376 ± 0.084. Pseudocapsules existed in all MTSCC-Ks on MRI. There were seven lesions showed heterogeneous enhancement, while three lesions showed homogeneous enhancement. Among them, six MTSCC-Ks showed slight multiple patchy enhancement (60%) in the corticomedullary phase, while the remaining MTSCC-Ks showed homogeneously slight enhancement (30%) or slightly stratified enhancement (10%). All MTSCC-Ks exhibited slow and progressive enhancement in the late phases. CONCLUSION: Iso- or slight hypoattenuation on CT, slight hypointensity with focal hyperintensity on T2WI, marked diffusion restriction on DWI and ADC map, slight multiple patchy enhancement in the corticomedullary phase, and slow and progressive enhancement in the late phases are the imaging features of MTSCC-Ks, which may facilitate the diagnosis of MTSCC-Ks.

ALK rearrangement-associated renal cell carcinoma morphologically mimicking mucinous tubular and spindle cell carcinoma: a case report.

BACKGROUND: Anaplastic lymphoma kinase rearrangement-associated renal cell carcinoma (ALK-RCC) is an extremely rare tumor and ALK-RCC that mimics mucinous tubular and spindle cell carcinoma (MTSCC) has been very reported only in one instance. CASE PRESENTATION: A 42-year-old Japanese woman was admitted to our hospital for the treatment of a left renal tumor measuring 5 cm in maximum dimension. She underwent a laparoscopic left nephrectomy. Histologically, the tumor formed tubular or focally papillary structures with a small amount of spindle-shaped tumor cells against the background of prominent extracellular mucin. Although the tumor cells were negative for immunohistochemistry (IHC) of alpha-methylacyl-CoA racemase (AMACR) and lymph node metastasis was presented (these are atypical findings for MTSCC), we initially diagnosed the tumor as MTSCC based on its morphological characteristics with mucin deposition. However, an additional IHC analysis revealed that the tumor cells were diffusely positive for ALK-IHC. In addition, TPM3 exon 8 - ALK exon 20 fusion gene was detected by RNA sequencing. The tumor was thus correctly diagnosed as ALK rearrangement-associated renal cell carcinoma (ALK-RCC). CONCLUSIONS: Since the use of molecular targeted therapy with an ALK inhibitor for ALK-RCC is promising, the correct pathological diagnosis of ALK-RCC is quite important. We strongly recommend that ALK-IHC be routinely performed for renal tumors with negative AMACR staining that mimic MTSCC.

Mucinous Tubular and Spindle Cell Carcinoma of the Kidney: A Study of Clinical, Imaging Features and Treatment Outcomes.

Purpose: To describe the clinical, imaging, pathological features and oncologic outcomes of mucinous tubular and spindle cell carcinoma (MTSCC) of the kidney. Patients and Methods: Twenty-two cases of MTSCC were pathologically identified between January 2004 and April 2021 at our institution. The clinical and imaging findings, pathological features, treatment methods and outcomes of the patients were reviewed. Results: These cases included 17 women and 5 men, with a median age at diagnosis of 52.5 years. On contrast-enhanced CT, MTSCC was less enhanced than the adjacent renal parenchyma. Tumor attenuation values were 33.3 ± 6.8HU, 44.0 ± 9.1HU, 54.4 ± 13.9HU and 67.1 ± 11.8HU in the non-contrast, corticomedullary, nephrographic and excretory phases of CT, respectively. Contrast-enhanced ultrasonography and MRI also showed hypovascular features of the masses. On MRI, the tumors were isointense on T1-weighted images and slightly hypo- or hyperintense on T2-weighted images. Diffusion-weighted imaging revealed a low apparent diffusion coefficient of the tumor. The patients were managed with laparoscopic partial nephrectomy (n=5), radical nephrectomy (n=16), or robotic-assisted laparoscopic partial nephrectomy (n=1). The median follow-up time was 59.5 months. All the patients were free of local recurrence or distant metastasis. Conclusions: MTSCC is generally indolent and has favorable outcomes. The imaging features of MTSCC are generally hypovascular, which is significantly different from clear cell renal cell carcinoma. However, it is still difficult to distinguish MTSCC from other hypovascular renal tumors preoperatively because their imaging features overlap. Further studies are essential to fully characterize the features of this rare RCC variant.

Cytoreductive Nephrectomy After Combination of Nivolumab Plus Ipilimumab for Mucinous Tubular and Spindle Cell Carcinoma of the Kidney With Bone Metastases: A Case Report.

BACKGROUND/AIM: Mucinous tubular and spindle cell carcinoma (MTSCC) is a rare subtype of renal cell carcinoma and generally considered a low-grade renal epithelial neoplasm. However, MTSCC with distant metastases often shows a poor prognosis. This is the first reported case of cytoreductive nephrectomy after nivolumab plus ipilimumab combination treatment. CASE REPORT: A 26-year-old man had a 72-mm tumor at the left kidney with multiple osteolytic bone metastases. A biopsy of the renal tumor and bone metastases resulted in the diagnosis of MTSCC of the kidney with bone metastases. After nivolumab plus ipilimumab combined treatment, he underwent cytoreductive nephrectomy. The excised specimen showed higher PD-L1 expression in the spindle components than in the tubular components, but CD4- and CD8-positve T-cells showed greater infiltration in the tubular components than the spindle components. CONCLUSION: Combination immunotherapy of nivolumab and ipilimumab may be an effective treatment option for metastatic MTSCC of the kidney.

Huge mucinous tubular and spindle cell carcinoma of the kidney: A case report.

Mucinous tubular and spindle cell carcinoma (MTSCC) of the kidney is a rare type of kidney cancer. Accurate diagnosis depends on pathological examination. A huge left renal tumor was incidentally found by computed tomography (CT) examination of a 52-year-old lady. She underwent Laparoscopic radical left nephrectomy. The postoperative pathological diagnosis is Mucinous tubular and spindle cell carcinoma. Eight months later, she showed no signs of recurrence.

Metastatic mucinous tubular and spindle cell carcinoma of the kidney responding to nivolumab plus ipilimumab.

INTRODUCTION: Mucinous tubular and spindle cell carcinoma is a rare subtype of renal cell carcinoma. Little is known regarding the efficacy of systemic therapy on its metastatic form because of its rarity. CASE PRESENTATION: We present the case of a patient with metastatic mucinous tubular and spindle cell carcinoma who achieved durable complete remission of multiple osseous metastases after undergoing cytoreductive nephrectomy followed by combination immunotherapy (ipilimumab plus nivolumab). Immunohistochemical analyses of the primary tumor revealed the presence of the tumor-infiltrating immune cells, including activated CD8+ T cells and PD-L1 expression, suggesting an immunologically hot tumor. CONCLUSION: Combination immunotherapy was a viable treatment option for this disease. Immunohistochemical analyses of the tumor-infiltrating immune cells predicted the efficacy of immune checkpoint inhibitors against rare renal cancers.

A case report of mucinous tubular and spindle cell carcinoma of the kidney / 中华泌尿外科杂志

Mucinous tubular and spindle cell carcinoma of the kidney is a rare subtype of renal carcinoma. In July 2019, one case of mucinous tubular and spindle cell carcinoma of the kidney was admitted to our hospital, The laparoscopic partial nephrectomy was performed, and there was no recurrence or metastasis during the follow-up period of 13 months. The disease has no obvious clinical manifestations and its diagnosis depends on pathological and immunohistochemical features. Surgical treatment is the main treatment for this disease, and most patients have a good prognosis.Howerer, the possibility of progression remains in the late stage of the disease.

Mucinous tubular and spindle cell carcinoma of the kidney: Five case reports and review of the literature.

Mucinous tubular and spindle cell carcinoma (MTSCC) of the kidney is a rare and polymorphic tumor, which has been previously considered to be a low-grade malignancy, predominantly occurring in women. To the best of our knowledge, MTSCC with bladder metastasis has never been reported. The current study presents five adult cases of MTSCC that included three male and two female patients. Among the male cases, two were of advanced stage, one with MTSCC and renal chromophobe cell carcinoma with bladder metastasis and the other with MTSCC with invasion of the renal vein. The other three cases with small masses were at an early stage. All five cases had a good prognosis and were without recurrence after several years of follow-up. A 70-year-old male with intermittent gross hematuria, intermittent renal colic, and groin radiation pain for a year (case 1), was incidentally detected to have a left renal density mass by total abdominal enhanced computed tomography scans. In the other four cases, renal masses were found by B-ultrasound. The patient in case 1 underwent a retroperitoneal laparoscopic radical nephroureterectomy with bladder cuff resection and transurethral resection of the bladder tumor, and received gemcitabine hydrochloride via intravesical instillation therapy plus cisplatin chemotherapy every 3 months. The patient in case 2 underwent an open left radical nephrectomy and renal pedicle lymph node dissection. The other three patients underwent a laparoscopic radical nephrectomy. All five patients had no recurrence or new metastasis in other organs after follow-up. In conclusion, the incidence of MTSCC in men and women is not as disparate as reported in previous publications. The characteristics of the images of the five adult cases in the present study showed a considerable consistency, with only minor differences. The malignancy and prognosis of MTSCC are still controversial, and thus inclusion and review of more cases is required to reach a definite final conclusion. Sunitinib and gemcitabine chemotherapy in combination with cisplatin may be effective for the therapy of MTSCC patients with metastasis, but a larger range of treatments needs to be identified.