Synchronous renal cell carcinoma and clear cell hepatocellular carcinoma mimicking metastatic disease

Double carcinomas of hepatocellular and renal cell carcinoma (RCC) are extremely rare, and among the reported cases, none of the hepatocellular carcinomas show clear cell change. We report a case of synchronous double primary clear cell tumor in the liver and the kidney of a 70-year-old male. The renal mass was a renal cell carcinoma of mixed clear and granular cell types, and the hepatic mass was a hepatocellular carcinoma with extensive clear cell change that mimicked a metastatic renal cell carcinoma. A simple battery of immunohistochemical stains composed of hepatocyte antigen, and CD10 was performed to make a definite diagnosis.     

Fluorescence in situ hybridization as an adjunct tool in the diagnosis of primary and metastatic renal cell carcinoma in fine needle aspiration specimens

We investigated the role of fluorescence in situ hybridization (FISH) in the diagnosis of primary renal neoplasms and lesions suspicious for metastatic renal cell carcinoma. Consecutive fine‐needle aspiration biopsies (FNAB) of 39 renal masses and 41 metastatic tumours suspicious for renal cell origin were assessed with an immunohistochemical panel for CK7, RCC antigen, CD10, AMACR, PAX8, vimentin, and CD117. In addition, FISH was performed using probes for chromosomes 1p, 3p, 7, 17, X, and Y. A total of 31 of 39 primary renal masses and 33 of 41 metastatic tumors suspicious for renal origin demonstrated typical cytological and immunohistochemical (IHC) features of subtypes of renal neoplasms (40 clear cell renal cell carcinoma (RCC), 20 papillary RCC, and 4 renal oncocytomas). FISH analysis of 15 randomly selected cases each of primary and metastatic lesions revealed chromosomal abnormalities consistent with the diagnosis in 73% of these cases. Of 8 primary renal masses demonstrating atypical microscopic features and noncontributory IHC profiles, FISH was helpful in subtyping 5 (62%) of these lesions (2 clear cell RCC, 1 solid variant of oncocytic papillary RCC, 1 mixed clear cell and papillary RCC, and 1 chromophobe RCC with papillary architecture). Of 8 metastatic tumors clinically suspicious for renal cell origin and supportive, but nondiagnostic IHC, FISH revealed supportive chromosomal changes in 6 (75%) cases. In conclusion FISH analysis on FNAB material, even with limited tissue, may be contributory to the diagnosis and subtyping of RCC in diagnostically challenging biopsies. Diagn. Cytopathol. 2014;42:1013–1023. © 2014 Wiley Periodicals, Inc.     

Ovarian metastasis from renal cell carcinoma: a report of three cases

Ovarian metastases from renal cell carcinoma (RCC) are very rare. Over the past 16 years we have encountered 3 examples. The first 2 cases occurred in adults 49 and 50 years old, respectively, who had huge ovarian metastases, clinically detected 12 and 14 months, respectively, after diagnosis of RCC. The third case was a 17-year-old girl in whom a metastatic renal cell carcinoma was detected in an otherwise benign-appearing cystic ovarian mass. To the best of our knowledge only 11 cases of clinically detected ovarian metastases of RCC have been reported. We report 3 new cases and review the literature on the subject.     

The expanding role of renal mass biopsy

Usage of renal mass biopsy has increased in recent years, ranging from selected clinical scenarios to routine implementation in some institutions. Major tasks for the field of diagnostic histopathology include discriminating primary renal cell cancers from other tumors, especially metastases, hematolymphoid tumors, and urothelial carcinoma. Within primary renal cell neoplasms, relevant distinctions include recognizing clear cell papillary renal cell carcinoma, which despite its resemblance to clear cell cancer is nonaggressive, as well as discriminating oncocytoma from chromophobe carcinoma. Helpful immunohistochemical markers include PAX8 for verification of primary renal cell lineage and carbonic anhydrase IX for support of clear cell subtype. Cytokeratin 7 is generally considered the best marker for discriminating oncocytoma from chromophobe renal cell carcinoma, showing only rare positive cells in oncocytoma and greater staining in chromophobe carcinoma. For metastatic tumors, attempting to discriminate clear cell from non-clear cell types may be important for treatment selection.     

Simultaneous double primary clear cell carcinomas of liver and kidney: a case report and review of literature

Reported herein are simultaneous double primary clear cell carcinomas arising from liver and kidney. A 63-year-old man underwent a partial wedge nephrectomy of the right kidney in a surgical resection for hepatocellular carcinoma. Coincidently, on histology the tumors in liver and kidney were consisted of clear cancer cells, which arranged in haphazardly intermixed pattern without capsules. Immunohistochemically, the clear neoplastic cells in the liver were positive for HepPar-1, GPC3, and negative for nephrogenic markers; however, renal clear neoplastic cells were positive for CD10, RCC and Pax-8, but negative to liver-derived markers. These findings led to the diagnosis of simultaneous double primary clear cell carcinomas of kidney and liver. Multiple primary carcinomas of kidney and liver, especially both are primary clear cell carcinomas, are extremely rare neoplasms, only 1 case has been reported previously until now. To our knowledge, this is a report of multiple primary carcinomas arising from the liver and kidney and reminders us of differentiation diagnosis with carcinoma metastasis.     

Poorly differentiated squamous cell carcinoma of the cervix with sarcomatoid differentiation: Report of a case with cytohistological correlation

Sarcomatoid squamous cell carcinoma (SSCC) of the uterine cervix is a rare malignancy with uncertain pathogenesis and aggressive clinical behavior. The diagnosis of this tumor poses a challenge to the cytopathologist since accurate diagnosis is based on identification of two malignant components, that is, epithelial and sarcomatoid. Most cases usually lack the sarcomatoid component on Papanicolaou test (Pap test). Therefore, a poorly differentiated carcinoma or malignant neoplasm is the most often rendered diagnosis. To date, less than 20 cases have been reported. Most of these cases were diagnosed by histopathologic findings. To our knowledge, cytomorphologic findings of SSCC on a liquid‐based Pap test, with utility of cell block sections, in recognition of the two components of tumor, with follow‐up histopathologic correlation have not been described. A case of SSCC occurring in a 57‐year‐old postmenopausal woman, describing the cytologic features on a liquid‐based Pap‐test, histopathologic findings of subsequent cervical biopsy, differential diagnosis, and role of ancillary studies are illustrated and discussed. Diagn. Cytopathol. 2017;45:137–142. © 2016 Wiley Periodicals, Inc.     

Metastatic renal cell carcinoma,clear cell type,of the parotid gland

Renal cell carcinoma (RCC), clear cell type, is a commonly encountered metastatic tumor that can present at unusual anatomic sites many years after the primary tumor resection. Noncutaneous metastasis to the parotid gland is unusual; however, a number of cases of parotid RCC metastasis have been reported. Fine‐needle aspiration biopsy (FNAB) is regularly utilized during the evaluation of salivary gland lesions, where it has a high sensitivity, specificity, and accuracy; however, the identification and definitive diagnosis of primary and metastatic clear cell neoplasms is a potential diagnostic pitfall for salivary gland FNAB. Here, we describe a case of RCC, clear cell type, metastatic to the parotid gland that was diagnosed entirely from FNAB cell block material, which is the first such reported case to our knowledge. We review the literature for cases of parotid RCC metastasis and focus on the utility of FNAB for synchronous versus metachronous presentations. Finally, we evaluate the differential diagnosis of clear cell parotid lesions, including ancillary histologic studies, and propose an algorithmic approach to clear cell neoplasms of the salivary gland. Diagn. Cytopathol. 2014;42:974–983. © 2014 Wiley Periodicals, Inc.     

Mucinous tubular and spindle cell carcinoma of the kidney with prominent papillary component,a non-classic morphologic variant. A histologic,immunohistochemical, electron microscopic and fluorescence in situ hybridization study

Mucinous tubular and spindle cell carcinoma (MTSCC) is a rare type of kidney tumor with relatively indolent behavior. Non-classic morphological variants have not been well studied and rarely been reported. We report a challenging case MTSCC with a peculiar morphology in a 42-year-old man, arising in a background of end-stage renal disease (ESRD). Predominant areas with extensive papillary architecture, psammoma bodies and stromal macrophageal aggregates, reminiscent of a papillary renal cell carcinoma (papillary RCC), were intermixed with foci that transitioned into a MTSCC-like morphology exhibiting elongated tubules and a low grade spindle cell component in a background of mucinous stroma. Immunohistochemistry demonstrated diffuse positivity for P504s/AMACR and vimentin in tumor cells. Focal positivity for RCC, CD10 and CK7 was also noted. Kidney-specific cadherin, cytokeratin 34betaE12 and TFE3 stains were negative in the tumor. The major differential diagnostic considerations were papillary RCC, clear cell papillary RCC, and Xp11.2 translocation carcinoma. Negative FISH studies for trisomy 7 and 17 in both papillary and spindled components supported the diagnosis of MTSCC. The ultrastructural profile was not entirely indicative of the cellular origin of the tumor. Cytogenetic analysis should be performed in atypical cases of MTSCC for precise diagnosis.     

Mucin-secreting clear cell renal cell carcinoma. A rare variant of conventional renal cell carcinoma

We report herein one case of conventional renal cell carcinoma (RCC) producing extensive extracellular mucinous secretion in a 71-year-old man. To the best of our knowledge, the presence of mucinous secretion in this tumor has not been documented. Mucin production, despite its low frequency, can be considered an additional feature of conventional RCC. Therefore, clear cell RCC should be added to the list of parenchymal renal tumors that can show significant mucin secretion; and it should be included in the inventory of morphologic variations of this tumor, which may cause diagnostic difficulties. It is of primary importance to distinguish mucin-secreting clear cell RCC from the metastasis of a mucin-secreting tumor to conventional RCC. Presence of mucin in a clear cell carcinoma does not exclude a renal origin.     

Histopathologic approaches to the infiltrative renal mass

Most renal masses are round or oval, well-circumscribed, and demonstrate a well-defined interface from the normal renal parenchyma. However, a small subset of renal tumors exhibits an infiltrative pattern, with a poorly-defined interface with the renal parenchyma and entrapment of normal structures. These infiltrative renal malignancies generally show more aggressive clinical course and are associated with a poorer prognosis compared to the more typical renal neoplasms. Main differential diagnoses for a renal mass with infiltrative histology would include urothelial carcinoma, fumarate hydratase (FH)-deficient renal cell carcinoma (RCC), medullary RCC, metastatic cancer from another organ, and rare patterns of clear cell or papillary RCC. Non-epithelial processes may include lymphoma and various infectious, inflammatory, immune-mediated, and vascular mimics. Collecting duct carcinoma is extremely rare in modern practice and is essentially a diagnosis of exclusion once the previous considerations are thoroughly argued against. The aim of this review is to familiarize pathologists with the spectrum of entities that can present as infiltrative masses in the kidney, and to highlight the most relevant immunohistochemical or other tools to facilitate accurate diagnoses and appropriate patient management.     

Renal cell carcinoma metastatic to Hurthle cell adenoma of thyroid

Metastases to the thyroid gland are a common finding at autopsy in patients who died of malignancy and are often misdiagnosed as primary thyroid neoplasms clinically. We present a patient with a rare, unusual case of renal cell carcinoma (RCC) metastatic to a Hurthle cell adenoma of the thyroid. A 53-year-old woman was admitted to a University of Texas Medical Branch Hospital (Galveston, TX) for a large right thyroid mass that was present for 3 months. A fine needle aspiration of the thyroid mass was performed and interpreted as suggestive of a Hurthle cell neoplasm. A total thyroidectomy revealed Hurthle cell adenoma containing clusters of cytologically atypical cells with clear cytoplasm. Subsequent patient evaluation and computed tomography revealed a renal mass. Left radical nephrectomy was performed at a later date for left renal mass and the microscopic examination confirmed the diagnosis of primary clear cell carcinoma of the kidney. Further studies confirmed that the thyroid mass was metastases from RCC. Although carcinoma of the kidney is responsible in most instances of metastatic disease to the thyroid, metastatic RCC to a thyroid neoplasm is extremely rare, with only two reports found in the English literature. The possibility of metastatic RCC should always be taken under consideration, especially when nests of clear cells are seen infiltrating into the thyroid parenchyma or neoplasm.     

A metastatic renal carcinoid tumor presenting as breast mass: a diagnostic dilemma

We present clinicopathological and cytological findings of a well-defined breast mass in a patient with history of primary renal carcinoid tumor. Fine-needle aspiration (FNA) cytology showed monotonous tumor cells with plasmacytoid appearance arranged singly and in small clusters. Occasional tumor cells were arranged in acinar architecture resembling glandular differentiation. Tumor cells showed fine speckled chromatin. The unusual location for metastasis of this rare type of carcinoid tumor and overlapping cytological features with primary mammary carcinoma led to an erroneous preliminary cytological diagnosis of primary breast carcinoma with plasmacytoid features. Tumor cells in the corresponding cell block showed strong diffuse positivity for synapthophysin and pan-cytokeratin with weak focal positivity for chromogranin markers. These patterns of immunostaining were similar to the original renal carcinoid tumor. To the best of our knowledge, a few cases of carcinoid tumor metastatic to the breast have been reported in the literature and more than half of these cases were initially misdiagnosed as primary breast carcinoma causing unnecessary surgical treatment. This is a first reported case of metastatic renal carcinoid tumor into breast diagnosed with FNA biopsy. This report highlights the cytological features of well-differentiated neuroendocrine tumor (carcinoid tumor) and its potential diagnostic pitfalls.     

Basaloid squamous carcinoma metastatic to renal-cell carcinoma: Fine-needle aspiration cytology of tumor-to-tumor metastasis

We describe an unusual case of a basaloid squamous-cell carcinoma (BSCC) of the tonsil in a 56-yr-old man that metastasized to a primary renal-cell carcinoma (RCC) and the lung. The diagnosis of the second primary, the RCC, was based on fine-needle aspiration (FNA) cytology. A subsequent nephrectomy specimen revealed BSCC metastatic to RCC, clear-cell type. Retrospective analysis of the FNA of the renal mass revealed classic RCC morphology and, in addition, another cytologically distinctive pattern characterized by occasional sheets of cohesive neoplastic cells with hyperchromatic nuclei and nuclear molding representative of BSCC. The cytologic features of a subsequent FNA of the lung were characteristic of metastatic BSCC. Our retrospective analysis of cytologic material from the renal mass underscores the importance of raising the possibility of tumor-to-tumor metastasis when distinctly different morphologic features are seen in an otherwise typical cytology of a neoplasm in patients with an already known or suspected second primary. To our knowledge, this case report is the first one documenting metastasis of BSCC to RCC. Diagn. Cytopathol. 1997;17:379–382. © 1997 Wiley-Liss, Inc.     

Metastasis of breast cancer to renal cancer: report of a rare case

Tumor-to-tumor metastasis (TTM) is a rare phenomenon. We present a case of an invasive ductal carcinoma (IDC) of the breast metastasizing to a clear cell renal cell carcinoma (RCC). Breast cancer (BC) metastasis to the RCC is rarely reported, especially in resected kidney tumor. In several cases reported, IDC was the exclusively histologic type of BC metastasized to RCC. It seems that the different molecular type of IDC doesn’t affect the metastatic tendencies to RCC. TTM was an indicator of diffuse disease. For any patient with a history of breast cancer, especially with multi-organs metastasis, resection of kidney tumor should be carefully considered.     

Diagnostic clues for differentiating Merkel cell carcinoma from lymphoma in fine-needle aspiration cytology

Nodal fine needle aspiration (FNA) is usually the first procedure in the work-up of malignancy of unknown primary. Merkel cell carcinoma (MCC) is an aggressive cutaneous cancer more common in Caucasians but rare among Asians. It is a diagnostic challenge in evaluating FNA from a metastatic MCC without the knowledge of a current or prior history of skin cancer. We report the case of a Taiwanese male with cervical and axillary masses. The diagnosis of the FNA from the axillary lymph node was lymphoproliferative lesion suspicious for lymphoma. The histopathological evaluation of nodal biopsy revealed a metastatic neuroendocrine carcinoma and the subsequent excision of the right palm tumor confirmed MCC. Retrospective review of the FNA and imprint cytology smears of the nodal biopsy showed nuclear molding, Indian filing and rare cytoplasmic pale bodies, but no lymphoglandular bodies. Cytologically metastatic MCC may mimic small round cell tumor including lymphoma, we consider these three cytological features as additional diagnostic clues for metastatic MCC. In this report, we present the cytologic and pathological features of this metastatic MCC and discuss the differential diagnosis of the cytologic mimickers.     

Subtypes of renal cell carcinoma with defined genomic alterations: diagnostic and prognostic significance

The World Health Organization (WHO) 2016 classification of renal neoplasia defines renal cell carcinomas (RCCs) with genomic alterations: (1) succinate dehydrogenase deficient (SDH) RCC, (2) hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome-associated RCC and (3) the MiT family translocation carcinoma (Xp11 translocation carcinoma and t(6;11) carcinoma). Genomic alterations also define two syndromes associated with RCC that have a varied histology; tuberous sclerosis complex and Birt-Hogg-Dube. This review will examine the WHO entities and the two aforementioned syndromes, and discuss a genomic alteration (TCEB1 mutation) that appears to define a subset of clear cell RCCs that histomorphologically overlap with clear cell tubulopapillary RCC. The focus will be on diagnostic considerations from the pathologic perspective, and include discussion of clinical features, prevalence, prognosis, common and uncommon immunohistochemistical stains and molecular testing.     

Hematologic malignancies of the female genital tract diagnosed on liquid-based Pap test: Cytomorphologic features and review of differential diagnoses

The female genital tract is rarely the primary site for hematologic malignancies; however, secondary involvement of this anatomic site is common. Primary lymphomas of the gynecologic tract are reported to represent less than 1% of extranodal non-Hodgkin lymphomas (NHL), and the majority of them being B-cell in origin. Diffuse large B-cell lymphoma is the most common subtype, whereas primary extraosseus plasmacytoma of the genital tract is rare.If clinically not suspected, these rare tumors pose a diagnostic challenge both for clinicians and pathologists. Clinical symptoms are often nonspecific and mimic other more common gynecologic malignancies such as squamous cell carcinoma of the cervix or endometrial adenocarcinoma. Although cervico-vaginal (Pap) smear is the primary screening method for cervical squamous cell carcinoma and its precursors, it is far less sensitive for detection of other primary or metastatic malignancies. In this review, we present three cases of hematologic gynecologic malignancies, two cases of primary NHL, and a case of acute myeloid leukemia with relapse as a pelvic mass, all of which were diagnosed on a liquid-based Pap test. In addition, we discuss the morphologic features of differential diagnostic entities of these rare tumors on conventional and liquid-based preparations.     

Fine-needle aspiration cytology of metastatic small cell carcinoma of the colon: A report of three cases

Small cell carcinoma of the large intestine is a rare, extremely aggressive malignancy often associated with an overlying adenoma. We report three cases of metastatic small cell carcinoma of the colon diagnosed by fine-needle aspiration (FNA) biopsy. Two of the patients were women (ages 33 and 46 yr old) and one was a man (69 yr old). FNA biopsy established the diagnosis of metastatic small cell carcinoma involving the liver (2 cases) and soft tissue of the scapular region (1 case). In one patient, the FNA diagnosis of hepatic metastases preceded identification of the primary site. Subsequently, the patient was found to have a small cell carcinoma subadjacent to a colonic villous adenoma, illustrating the importance of investigating villous lesions of the colon in patients with metastatic small cell carcinoma of unknown primary origin (especially in non-smokers). All three cases showed the characteristic cytologic features of small cell carcinoma. Ancillary studies performed on aspirated material confirmed the diagnosis of small cell carcinoma in one case. Immunocytochemical studies revealed punctate cytokeratin and diffuse neuron-specific enolase (NSE) positivity of the malignant cells. Ultrastructurally neurosecretory granules were evident. To the best of our knowledge, this is the first FNA cytologic report of metastatic small cell carcinoma of the large intestine. This FNA report also demonstrates when a small cell carcinoma is detected in a metastatic site in a patient lacking a lung primary, a likely primary site could be adjacent or beneath a polypoid lesion of the colon. Diagn Cytopathol 1996;15:54–59. © 1996 Wiley-Liss, Inc.     

Atypical presentation of calvarial metastasis of renal cell carcinoma in an adolescent: A rare case diagnosed on fine needle aspiration cytology with literature review

Renal cell carcinoma (RCC) is a complex and challenging neoplasm both in terms of treatment as well as diagnosis. Its unpredictable biological behavior and many deceptive appearances can sometimes bewilder the pathologist. We hereby report a rare case of a 17 year old girl presenting with an occipital swelling and importantly no prior documents at the time of aspiration. Fine needle aspiration cytology showed features of metastatic carcinoma with the following possibilities; metastatic RCC, melanoma, and hepatocellular carcinoma. Further detailed history of the patient and investigations were advised. Intraoperative squash smears also showed similar features. Histopathology of the lesion showed features of metastatic RCC. This case highlights the fact that a skull lesion in rare cases may be the presenting sign of an underlying malignancy. In the absence of key documents, providing the correct diagnosis may become very challenging and cytomorphology alone can be extremely helpful. Diagn. Cytopathol. 2015;43:412–415. © 2015 Wiley Periodicals, Inc.