Clear Cell Papillary Carcinoma Research Articles

Single thyroid tumour showing multiple differentiated morphological patterns and intramorphological molecular genetic heterogeneity

AimsA 49-year-old man presented with a single thyroid tumour that showed a combination of conventional papillary carcinoma, follicular variant of papillary carcinoma, clear cell papillary carcinoma, columnar cell carcinoma and...

TCEB1-mutated renal cell carcinoma: a distinct genomic and morphological subtype

Integrated sequencing analysis identified a group of tumors among clear cell renal cell carcinomas characterized by hotspot mutations in TCEB1 (a gene that contributes to the VHL complex to ubiquitinate hypoxia-inducible factor). We analyzed 11 tumors from two distinct cohorts with TCEB1 mutations along with an expanded cohort to assess whether these should be considered an entity distinct from clear cell renal cell carcinoma and clear cell papillary renal cell carcinoma. All tumors were characterized by hotspot mutations in TCEB1 Y79C/S/F/N or A100P. Morphological and immunohistochemical characteristics of the tumors were assessed by two experienced genitourinary pathologists. Clinical and pathological variables, copy number alterations, mutations, and expression signatures were compared with a cohort of TCEB1 wild-type tumors. All TCEB1-mutated tumors were VHL and PBRM1 wild type and contained distinct copy number profiles including loss of heterozygosity of chromosome 8, the location of TCEB1 (8q21.11). All tumors lacked the clear cell renal cell carcinoma signature 3p loss and contained distinct gene expression signatures. None of the clear cell papillary tumors harbored TCEB1 mutations. Pathologically, all TCEB1-mutated tumors shared characteristic features including thick fibromuscular bands transecting the tumor, pure clear cell cytology frequently with cells showing voluminous cytoplasm, and clear cell renal cell carcinoma-like acinar areas associated with infolding tubular and focally papillary architecture. The presence of voluminous cytoplasm, absence of luminal polarization of tumor nuclei, and lack of extensive cup-like distribution of carbonic anhydrase-IX expression distinguish it from clear cell papillary carcinoma. None of the patients developed metastases at last follow-up (median 48 months). In sum, TCEB1-mutated renal cell carcinoma is a distinct entity with recurrent hotspot mutations, specific copy number alterations, pathway activation, and characteristic morphological features. Further clinical follow-up is needed to determine whether these tumors are more indolent compared with the conventional clear cell renal cell carcinoma.

Clear Cell Carcinoma of the Conjunctiva

To describe a rare case of primary conjunctival clear cell carcinoma. The clinical history and pathologic findings were reviewed. An 82-year-old white man presented with a lesion on his right conjunctiva for 8 months. An excisional biopsy was performed with wide margins and mitomycin C. Pathologic examination showed a papillary clear cell carcinoma of the conjunctiva. The patient has been followed for 6 months without recurrence. Primary clear cell carcinoma, a variant of squamous cell carcinoma, can occur in the conjunctiva.

Renal cell carcinoma: diagnosis and relevance of newly described subtypes

Since the modern classification scheme for renal cell carcinoma was established in 1998, new subtypes have been recognised. These include MITF family translocation renal cell carcinoma (e.g., Xp11/TFE3), low-grade tubulocystic carcinoma, mucinous tubular and spindled carcinoma, clear cell-papillary carcinoma, and specific subtypes associated with end-stage kidney disease. We will discuss diagnostic criteria for each entity with emphasis on distinction from more common subtypes based on morphology and adjunctive studies such as immunohistochemistry and FISH. We will also discuss the clinical relevance of these distinctions with regard to prognosis and targeted therapy.

Uncommon and recently described renal carcinomas

Major consensus conferences held over a decade ago laid the foundations for the current (2004) WHO classification of renal carcinoma. Clear cell, papillary and chromophobe carcinomas account for 85–90% carcinomas seen in routine practice. The remaining 10–15% of carcinomas consist of rare sporadic and hereditary tumors, some of which had been long recognized, but many of which only emerged as distinct entities in the decade leading up to the WHO publication. Collecting-duct carcinoma is a rare, often lethal form of carcinoma. Medullary carcinoma associated with sickle cell trait, has emerged as a distinctive tumor showing some overlapping features with upper tract urothelial carcinoma. Mucinous tubular and spindle-cell carcinoma and tubulocystic carcinoma were earlier considered as patterns of low-grade collecting-duct carcinoma, but are now recognized as separate tumor entities. Carcinomas associated with somatic translocations of TFE3 and TFEB comprise a significant proportion of pediatric renal carcinomas. Oncocytoid renal carcinomas in neuroblastoma survivors was recognized as a unique tumor category in the WHO classification. Renal carcinoma associated with end-stage renal disease is now recognized as having distinct morphological patterns and behavior. In addition there is a group of rare recently described carcinomas, including clear cell papillary carcinoma, oncocytic papillary renal cell carcinoma, follicular renal carcinoma and leiomyomatous renal cell carcinoma. It behooves the surgical pathologist to not only be capable of diagnosing the common forms of renal cancer, but also to be aware of the rare types of renal carcinoma, many of which have emerged in recent years.

Clear cell papillary carcinoma of the liver: An unusual variant of peripheral cholangiocarcinoma

Cholangiocarcinomas may be extrahepatic or intrahepatic; the latter are further divided into bilar and peripheral types. Peripheral cholangiocarcinomas often resemble adenocarcinomas arising in other organs. Although clear cell changes may occur in hepatocellular carcinoma and extrahepatic cholangiocarcinoma, peripheral cholangiocarcinomas with clear cell change are rare. In such cases, an extrahepatic primary carcinoma must be excluded. We present a patient with a large, clear cell papillary carcinoma in the liver. Extensive workup of the patient for other possible primary sites including kidneys, adrenals, thyroid, prostate, or urinary bladder failed to indicate any other neoplasm. The patient is alive without evidence of disease 30 months after complete resection. The histological, immunohistochemical, and electron microscopic results were most consistent with a neoplasm in the cholangiocarcinoma family. To the best of our knowledge, a clear cell papillary peripheral cholangiocarcinoma has not been described previously. This neoplasm may be related to the recently described clear cell carcinomas of the gallbladder and extrahepatic bile ducts.

Juxtaglomerular cell tumor of the kidney: Report of two cases with a papillary pattern

We report the clinicopathologic, immunohistochemical, and electron microscopic study of two cases of juxtaglomerular cell tumor of the kidney with a hitherto unreported dominant papillary pattern. Both tumors were associated with high blood pressure that did not respond to medical therapy, but that returned to normal after removal of the kidney. They were well delineated, tan, and had no necrosis. The cores of the papillary structures consisted of polygonal cells found to express renin by immunohistochemistry and to contain renin protogranules by electron microscopy. The papillary fronds were covered by one layer of cuboidal epithelial cells that did not stain for renin and had ultrastructural features reminiscent of the collecting duct epithelium. These tumors must be differentiated from malignant papillary tumors of the kidney, such as papillary clear cell carcinoma, transitional cell carcinoma, and collecting duct carcinoma.

Primary peritoneal papillary serous adenocarcinoma: Clinical and management aspects

From January 1, 1984 to April 30, 1990, 38 patients were surgically found to have an intraabdominal disease resembling epithelial ovarian cancer. This diagnosis was confirmed in 31 patients; the remaining 7 met the criteria of primary peritoneal papillary serous carcinoma. Five of these were diagnosed retrospectively and two during surgery. The mean age at diagnosis was 61.2 years. Tumor histology revealed papillary serous carcinoma in six and mixed (papillary serous and papillary clear cell carcinoma) in one patient. Optimal debulking was achieved in three of seven cases (42.8%). Cisplatin-based combination chemotherapy was administered to all in the study group. Complete response was obtained in four patients, with one surviving for 76 months. The median survival in these patients was 34.5 months (range 6–76 months). Currently, three patients with complete response are alive with clinically undetectable disease. CA-125 assays were available in three cases and blood levels corroborated the clinically determined status of the disease. Tumor steroid hormone receptor status was determined in one case and revealed low levels of estrogen and progesterone receptors. To the best of our knowledge, the usefulness of CA-125 in the diagnosis, management, follow-up, and determination of tumor steroid hormone receptor status, mixed papillary serous and clear cell subtype histological patterns for primary peritoneal papillary serous carcinoma are first described in this report. It seems that this neoplasm may be treated and followed up as in epithelial ovarian cancer, obtaining long-term survival; however, the biologic behavior and management problems of this relatively new entity deserve further clinical experience.

Papillary clear cell carcinoma of the thyroid gland

A case of an unusual papillary clear cell carcinoma of hte thyroid gland is described. The patient expired 17 days after operative biopsy and thyroxine suppression. Special stains were helpful in differentiating renal cortical carcinoma and parathyroid malignant disease from primary papillary clear cell carcinoma of the thyroid. Ultrastructural features of this tumor may relate to the effects of thyroid stimulating hormone as well as the malignant nature of the tumor.

Eccrine acrospiroma (porosyringoma) of the eyelid.

SWEAT gland tumors of the eyelids are uncommon, and most ophthalmologists have had little experience with them. There is also considerable confusion in classifying some of these lesions pathologically. Recently, the name acrospiroma has been proposed for a histologically distinct sweat gland tumor that in the past has been reported variously as porosyringoma, clearcell papillary carcinoma, clear-cell myoepithelioma, clear-cell hidradenoma, carcinoma of the sweat gland, clear-cell hidradenoma and hidradenocarcinoma, superficial hidradenoma, large-cell sweat gland adenoma, basal-cell carcinoma of sweat gland origin, and dermal sweat duct tumor.1 In recent years porosyringoma has been the most popular synonym for this tumor. The presently reported case illustrates the clinical and pathological features of eccrine acropiroma. Report of a Case A 67-year-old white man was referred for consultation regarding a mass in his left lower eyelid. The lesion was said to have been present for about three years and recently had increased slightly

CLEAR CELL HIDRADENOMA OR MYOEPITHELIOMA OF THE EYELID.

A variety of tumors presumably arising from eccrine sweat glands and ducts may involve the palpebrai tissues. One sweat gland tumor not commonly encountered on the eyelids is composed primarily of cells with clear cytoplasm. Because of this morphologic feature these tumors have in the past been designated as clear cell papillary carcinoma, 1 clear cell myoepithelioma, 2 or clear cell hidradenoma. 3,4 A case of clear cell hidradenoma of the eyelid is reported because of its unusual clinical aspects and the difficulties encountered in the interpretation of a biopsy. Report of Case A 63-year-old retired white farmer had a tumor on the medial aspect of the right lower lid (Fig 1) for 15 years. During the six months prior to admission the lesion had increased rapidly in size. A biopsy was obtained on Sept 22, 1958, and the lesion interpreted as a sebaceous adenoma (Fig 2). However, clinically the