Kidney tumor - adult malignancies - Medullary carcinoma of kidney

Home Chapter Home Jobs Conferences Fellowships Books

Kidney tumor - adult malignancies

Adult renal cell carcinoma

Medullary carcinoma of kidney

Reviewers: Sean Williamson, M.D. (see Reviewers page)
Revised: 30 June 2012, last major update June 2012
Copyright: (c) 2003-2012, PathologyOutlines.com, Inc.

General
=========================================================================

● Rare; <100 cases reported, first characterized in 1995 (Am J Surg Pathol 1995;19:1)
● Also called the seventh sickle cell nephropathy (others are unilateral hematuria, papillary necrosis, renal infarct, nephrotic syndrome, pyelonephritis, inability to concentrate urine)
● Origin: arises from collecting duct system; may be due to regenerating renal papillary epithelium
● May be related to collective duct carcinoma based on similar histologic and immunoreactive features
● May be related to rhabdoid tumor, based on shared molecular/genetic alteration (loss of INI1)

Epidemiology
=========================================================================

● Majority of patients have been black
● Sickle cell trait or hemoglobin SC disease in almost all cases
● Average age 21-24 years, 75% male
● 75-89% occur in right kidney (Urology 2007;70:878)

Clinical description
=========================================================================

● Aggressive; usually advanced disease at presentation with metastases to lymph nodes, adrenal gland, peritoneum, perinodal retroperitoneum, liver, lungs or inferior vena cava
● Death in 4-6 months, resistant to radiotherapy and chemotherapy, although one 8 year old boy is free of disease 8 years after surgery (Mod Pathol 2007;20:914)

Case reports
=========================================================================

● 15 year old black girl with sickle cell trait, lymphadenopathy, pleural and pericardial effusions (Arch Pathol Lab Med 2003;127:e288)
● 20 year old pregnant black woman with sickle cell trait (Arch Pathol Lab Med 2002;126:627)
● 21 year old black man with sickle cell disease and 40 year old black man with HbSC disease (Arch Pathol Lab Med 2003;127:e135)
● 33 year old black man with sickle cell trait (Arch Pathol Lab Med 2000;124:1561)
● 37 year old black woman with tumor and presence of sickle cell trait discovered at autopsy (Am J Surg Pathol 1998;22:260)
● 42 year old white man without sickle hemoglobinopathy (Nat Rev Urol 2010;7:110)

Gross description
=========================================================================

● Ill-defined, firm, rubbery, tan-gray tumor in renal medulla and adjacent soft tissues; mean 7 cm
● Satellite nodules in cortex; hemorrhage and necrosis common

Gross images
=========================================================================

Well-circumscribed yellow-white tumor

Focally infiltrative

Lobulated tumor

Micro description
=========================================================================

● Tubular, solid, reticular, adenoid cystic or yolk sac-like patterns, but not tubulopapillary
● Tumor cells have hyperchromatic nuclei, prominent nucleoli, rhabdoid features
● Angiolymphatic invasion, desmoplastic stroma, infiltrative borders and intratumoral neutrophils are common
● Lymphocytes at rim
● Hemorrhagic and geographic necrosis, frequent mitotic figures
● Contains mucin

Micro images
=========================================================================

Patterns:

Reticular growth pattern

Tubular pattern with prominent desmoplasia

Microcystic pattern

Solid pattern

Adenoid cystic pattern

Collections of neutrophils

Sickled RBCs

Rhabdoid versus medullary tumor: H&E and INI1

Case reports:

15 year old black girl with sickle cell trait:
Figure 1: CT shows upper pole mass
Figure 2: FNA shows cohesive three dimensional tumor cell balls with prominent nucleoli
Figure 3: cell block shows cells with eosinophilic cytoplasm, macronucleoli, brisk mitotic activity
Figure 4: lymph node biopsy shows solid pattern of large anaplastic cells

20 year old pregnant black woman with sickle cell trait:
Figure 1: tumor extends into hilus and renal vein
Figure 2: sheets of intermediate to large cells with ill defined borders, moderate cytoplasm, vesicular nuclei, prominent nucleoli; also extensive necrosis, inflammation, mitotic figures
Figure 3: adjacent stroma shows spindle cells with vesicular nuclei, desmoplastic stroma, inflammation

21 year old black man with sickle cell disease

40 year old black man with HbSC

Cytology description
=========================================================================

● Cohesive groups of cells with vacuolated cytoplasm that often displace or indent the nuclei; nuclei often have irregular membranes, coarse or vesicular chromatin and prominent nucleoli (Cancer 2005;105:28)

Cytology images
=========================================================================

33 year old black man with sickle cell trait:
Figure 1: touch imprints show clusters of large malignant cells with well defined borders, hyperchromatic nuclei, irregular nuclear borders and prominent nucleoli
Figure 2: biopsy shows sheets and cords of large epithelioid cells, with abundant eosinophilic cytoplasm, enlarged hyperchromatic nuclei and prominent nucleoli
Figure 3: EM shows large tumor cells with streaming bundles of cytokeratin, varying rough endoplasmic reticulum,
mitochondria and lysosomes, and irregular nuclei

Various images

Positive stains
=========================================================================

● High molecular weight cytokeratin, variable vimentin and mucicarmine, occasional EMA and CEA

Negative stains
=========================================================================

● Loss of INI1 expression (Mod Pathol 2008;21:647), colloidal iron, PAS, desmin

Cytogenetics description
=========================================================================

● Associated with monosomy 11 (beta globin gene is at end of 11p)

Molecular description
=========================================================================

● Hypoxia-inducible factor and VHL abnormalities (Hum Pathol 2011;42:1979)
● ALK rearrangement with vinculin (VCN) fusion (Genes Chromosomes Cancer 2011;50:146)
● DNA topoisomerase II amplification (BJU Int 2010;1:62)

Differential diagnosis
=========================================================================

● Collecting duct carcinoma: tubulopapillary pattern of irregular glands within desmoplastic stroma with neutrophils
● High grade urothelial carcinoma
● Rhabdoid tumor

End of Kidney tumor - adult malignancies > Adult renal cell carcinoma > Medullary carcinoma of kidney

This information is intended for physicians and related personnel, who understand that medical information is often imperfect, and must be interpreted in the context of a patient's clinical data using reasonable medical judgment. This website should not be used as a substitute for the advice of a licensed physician.

All information on this website is protected by copyright of PathologyOutlines.com, Inc. Information from third parties may also be protected by copyright. Please contact us at copyrightPathOut@gmail.com with any questions (click here for other contact information).