HANDOUT

ILLINOIS REGISTRY OF ANATOMIC PATHOLOGY

RUSH UNIVERSITY MEDICAL CENTER

NOVEMBER 24, 2003

 

Case 1

 

Presenter:  Reshma Ariga, MD

Attending:  Alexander C Templeton, MD

 

Diagnosis:  Myositis Ossificans (of the foot).

 

Important Differential Diagnosis

Based on site and radiology

            Malignant

               Extraskeletal osteosarcoma

               Epithelioid sarcoma

               Clear cell tumor of tendon sheath

               Synovial sarcoma

            Benign/reactive

               Fibro-osseus pseudotumor of the digits (FOPD)

               Fibrodysplasia ossificans progressiva (FDOP)

               Ossifying fibromyxoid tumor

   NoraÕs lesion

               Nodular fasciitis

               Fibroma of tendon sheath

               Giant cell tumor of tendon sheath

               Calcifying aponeurotic fibroma

               Tumoral calcinosis

               Plantar fibromatosis

              

                                   

Key Morphologic Features

á      Microscopic:  Classic zonation pattern with a peripheral zone of osteoid lined by a uniform layer of osteoblasts, and a central zone composed of loosely textured vascular spindle cell proliferation.  There are mitosis but no atypical forms.

 

Discussion

á      Myositis Ossificans is one family of reactive conditions including proliferative fasciitis, decubitus fasciitis, post traumatic heterotopic bone formation in scars and hip replacement, FOPD, and FDOP.

á      Bone morphogenetic proteins (BMPs) are part of a family of 43 proteins that include the transforming growth factor Beta like genes.

á      There are seven major BMPs that act on bone and induce bone formation in mesenchymal cells.   Most of these are able to induce many of the characteristics of osteoblasts in tissue culture of vascular pericytes.  Implantation of these materials lead to cartilaginous proliferation followed by the usual embryological process of enchondral ossification.

á      Osteosarcoma cells make all 7 BMPs in excess, in myositis ossificans BMP type 1, 4 and 6 are found in high concentration.  In fibrodysplasia ossificans progressiva the receptor BMP4 is constituitively overactive.

á      BMPs are being used to induce bone formation where you want it.

 

References

 

1. Shafritz A B and Kaplan F S.  Differential expression of Bone and Cartilage related genes in Fibrodysplasia Osssificans Progressiva, Myositis Ossificans Traumatica, and Osteogenic sarcoma.  Clinical Orthopedics and Related Research 1998; 346:46-52.

2. Wozney J M and Rosen Vicki.  Bone Morphogenetic Protein and Bone Morphogenetic Gene Family in Bone Formation and Repair. Clinical Orthopedics and Related Research 1998; 346:26-37.

3. Lanchoney T F, Olmsted E A, Shore E M, Kaplan F S et al. Clinical Orthopedics and Related Research 1998; 346:38-45.

4.  Bancroft L W, Peterson J J, Nomikos G C, Murphey M D, et al.  Soft tissue tumors of the lower extremeties.  Radiologic Clinics of North America 2002; 40(5).

 

 

Case # 2

 

Presenter:  Tera Jones, MD

Attending:  Paolo Gattuso, MD

 

Diagnosis:  Adrenal cortical neoplasm of indeterminate malignant potential

 

Important Differential Diagnosis:

            Adrenal cortical adenoma

Adrenal cortical adenocarcinoma

 

Key Morphologic Features

9 features have been correlated with a poor clinical prognosis in the pediatric population including:

1.    Atypical mitotic figures

2.    Necrosis

3.    Venous invasion

4.    Capsular invasion

5.    > 15 mitoses/ 20 HPF

6.    Weight >400 g

7.    Tumor size >10.5 cm

8.    Invasion into the vena cava

9.    Extension into peri-adrenal soft tissues or adjacent organs

 

No one feature should be used alone to predict prognosis.  The suggested guidelines are as follows:

1.    Up to 2 criteria present suggests a benign clinical outcome

2.    Three criteria present suggests an indeterminate malignant potential

3.    Four or more criteria present suggest a poor clinical outcome

 

Key Ancillary Studies

            Immunohistochemistry and Electron microscopy are not especially useful.

 

Important Features

            Adrenal cortical neoplasms in the pediatric population are uncommon.  They historically, they have been classified according to the established adult criteria proposed by Weiss et al.  It has been recognized by many investigators that pediatric neoplasms, may appear more malignant than their adult counterparts, yet behave in a clinically benign fashion. While a few authors have tried to classify the lesions, the largest study was recently published by Dr Weineke et al of the AFIP investigating 83 such tumors in the pediatric population. They suggested the above criteria and guidelines based on clinical follow-up.

 

 

References

 

1.    Aubert, S; Wacrenier, A et al.  ÒWeiss System Revisited:  A Clinical pathologic and Immunohistochemical Study of 49 Adrenocortical Tumors.Ó  26(12): 1612-1619, 2002. 

2.    Bugg, M, Ribeiro, R et al.  ÒCorrelation of Pathologic Features With Clinical Outcome in Pediatric Adrenocortical Neoplasia A Study of a Brazilian Population.Ó  Am J Clin Pathol 101: 625-29, 1994.

3.    Ciftci, A; Senocak, M; Tanyel, F; Buyukpamukcu, N.  ÒAdrenocortical tumors in children.Ó  Journal of Pediatric Surgery 36(4):  549-54, 2001.

4.    Lack, E.  Adrenal Cortical Carcinoma and Adrenal Cortical Neoplasms in Children.  Tumors of the Adrenal Gland and Extra-adrenal Paraganglia, fascicle 19.  Washington, DC:  Armed Forces Institute of Pathology, 1997: 123-68.

5.   Sandrini, R; Ribeiro, R; Delacerda, L.  ÒChildhood Adrenocortical Tumors.Ó  The J of Clin Endocrinology & Metabolism 82(7):  2027-2031, 1997.

6.   Sredni, S; Alves, V et al.  ÒAdrenocortical tumours in children and adults:  a study of pathological and proliferation features.Ó   Pathology 35: 130-35, 2003.

7.   Stojadinovic, A; Brennan, M et al.  ÒAdrenocortical Adenoma and Carcinoma:  Histopathological and Molecular Comparative Analysis.Ó  Mod Pathol 16(8): 742-51, 2003.

8.   Teinturier, C; Pauchard, MS et al.  ÒClinical and Prognostic Aspects of Adrenocortical Neoplasms in Childhood.Ó  Med and Ped Onc 32: 106-111, 1999.

9.   Weiss LM.  ÒComparative histopathologic study of 43 metastasizing and nonmetastasizing adrenocortical tumors.Ó  Am J Surg Pathol 8: 163-9, 1984.

10.   Weiss LM, Medeiros LJ, Vickery AL.  ÒPathologic features of prognostic significance in adrenocortical carcinoma.Ó  Am J Surg Pathol 13:202-6, 1989.

11.  Wieneke, J;  Thompson, L; and Heffess, C.  ÒAdrenal Cortical Neoplasms in the Pediatric Population:  A Clinicopathologic and Immunophenotypic Analysis of 83 patients.Ó  Am J Surg Pathol 27(7): 867-81, 2003.

12.  Wolthers, OD, Cameron, FJ, Scheimberg, I et al.  ÒAdrogen secreting adrenocortical tumours.Ó  Arch Dis Child 80: 46-50, 1999.

 

 

 

Case 3

 

Presenter:  Juan-Miguel Mosquera, MD

Attending:  Jerome M. Loew, MD

 

Diagnosis:  Thymic carcinoma with neuroendocrine differentiation

 

Important Differential Diagnosis

á      Thymic infiltration by an extrathymic carcinoma, either metastasis or direct extension.

 

Key morphologic features

á      Microscopic: May have morphologic features of any of several subtypes of thymic carcinoma, including epidermoid (keratinizing and non-keratinizing), lymphoepithelioma-like carcinomas, small cell carcinoma, or adenocarcinoma of the thymus. Cells are reactive for one or more neuroendocrine markers.

 

Key Ancillary Studies

á      Immunohistochemistry: synaptophysin, chromogranin and/or NSE highlight neuroendocrine differentiation of the tumor cells. In addition, small neuroendocrine cells can also be demonstrated using these stains.  CD5 is positive in thymic carcinoma.

á      Electron microscopy: demonstrates dense-core granules and cell junctions

 

Important features

Neuroendocrine differentiation is a common feature in thymic carcinomas. Focal expression of neuroendocrine markers is found in about 68% of cases.  Neuroendocrine differentiation is not restricted to a specific histologic type of thymic carcinoma.  No specific genetic alteration in thymic carcinomas has been correlated with neuroendocrine differentiation. This data suggests that a distinction between high-grade thymic carcinomas with neuroendocrine differentiation and primary neuroendocrine carcinomas of the thymus may not be warranted. This case illustrates that these two types of thymic tumors may well be a spectrum of related carcinomas.

 

 

References

 

1. Histological typing of tumors of the thymus. World Health Organization International Histological Classification of Tumors, 2nd Ed. Heidelberg: Springer-Verlag, 1999: 5-6

2. Lauriola L, Erlandson RA, and Rosai J. Neuroendocrine differentiation is a common feature of thymic carcinoma. Am J Surg Pathol 1998; 22(9):1059-1066

3. Hishima T et al. Neuroendocrine differentiation in thymic epithelial tumors with special reference to thymic carcinoma and atypical thymoma. Hum Pathol 1998; 29:330-338

4. Kuo T-k. Frequent presence of neuroendocrine small cells in thymic carcinoma: a light and immunohistochemical study. Histopathology 2000; 37:19-26

5. Suster S and Moran CA. Neuroendocrine neoplasms of the mediastinum. Am J Clin Pathol 2001; 115 (Suppl 1): S17-S27

6. Moran CA and Suster S. Neuroendocrine carcinomas (carcinoid tumor) of the thymus. Am J Clin Pathol 2000; 114: 100-110

7. Moran CA and Suster S. Thymic neuroendocrine carcinomas with combined features ranging from well-differentiated (carcinoid) to small cell carcinoma. Am J Clin Pathol 2000; 113: 345-350

8. Hishima T et al. CD5 expression in thymic carcinoma. Am J Pathol 1994; 145(2): 268-275

9. Kornstein MJ and Rosai J. CD5 labeling of thymic carcinomas and other nonlymphoid neoplasms.      Am J  Clin Pathol 1998; 145(2): 722-726

10. Tateyama H et al. Immunoreactivity of a new CD5 antibody with normal epithelium and malignant tumors including thymic carcinoma. Am J Clin Pathol 1999; 111:235-240

 

           

Case #4

 

Presenter: Sophie Z. Aalaei, M.D.

Attending: Alexander C. Templeton, M.D.

 

Diagnosis: Segmental colitis associated with Diverticulitis.

 

Important Differential Diagnosis:

            Ulcerative colitis

            CrohnÕs disease

           

Key Morphologic Features:

 

Key Ancillary Studies: 

 

Important Features:

Most papers on this subject are incidental case reports, and provide no epidemiological data on the disease progression. The best data available consist of two studies which when combined, had described and followed 46 patients. Many of these patients underwent resection of the involved part of the bowel.  Of these 46 patients, only 5 went on to develops inflammatory bowel disease. This suggests that diverticular disease is the driving force behind the development of inflammatory bowel disease like changes in most individuals with diverticulitits. Surgical resection of the involved segment of bowel is curative in these individuals.

 

References

 

1.     Makagupay L.M., et.al. Diverticular disease-associated chronic colitis. American Journal of Surgical Pathology 1996; 20:94-102.

2.     Van Rosendaal G.M.A. Segmental colitis complicating diverticular disease. Canadian Journal of Gastroenterology 1996; 10(6): 361-4.

3.     Deutsch S.F. et.al. Areomonas sobria-associated left-sided segmental colitis. American Journal of Gastroenterology 1997; 92:2104-2108.

4.     Pereira M.C. Diverticular disease-associated colitis: progression to severe chronic ulcerative colitis after sigmoid surgery. Gastrointestinal endoscopy 1998; 48:520-3.

5.     Goldstein N.S., et.al. CrohnÕs Colitis-like Changes in Sigmoid Diverticulits Specimens is Usually an Idiosynchratic Inflammatory Response to the Diverticulosis Rather Than CrohnÕs Colitis. American Journal of Surgical Pathology 2000; 24(5): 668-75.

6.     Jani N. et.al. Segmental Colitis Associated with Diverticulosis. Digestive Diseases and Sciences 2002; 47:1175-81.

7.     Gushlandi M. Segmental colitis: so what? European Journal of Gastroenterology and Hepatology 2003; 15:1-2.

 

Case # 5

 

Presenter:  Rohan John, MD

Attending:  Elizabeth Cochran, MD

 

Diagnosis:  Medulloblastoma, large cell/anaplastic subtype

 

Important Differential Diagnosis

Atypical teratoid/rhabdoid tumor

Metastatic small cell carcinoma

Malignant astrocytoma, Ependymoma, Pilocytic astrocytoma

 

           

Key Morphologic Features

á      Microscopic:  areas of sheets of small round blue cells with Homer Wright rosettes; other areas with large cells, the nuclei of which are angular, pleomorphic and show molding.  Abundant mitoses and apoptotic bodies are seen, and cell wrapping is present. 

 

Key Ancillary Studies

á      Immunohistochemistry: Synaptophysin positivity supports neuronal differentiation.  EMA, cytokeratin AE1/AE3, vimentin, chromogranin, and neurofilament are negative.  GFAP is focally positive highlighting reactive astrocytes.  An elevated MIB-1 index is consistent with a highly proliferative tumor. 

 

 

Important Features

Medulloblastoma is an embryonal cerebellar tumor primarily occurring in children, and usually with neuronal differentiation.  The classic medulloblastoma consists of sheets of small round blue (primitive/ undifferentiated) cells.  The large cell/anaplastic subtype contains large cells with abundant mitoses and apoptotic bodies, and shows cell wrapping.  In addition and specifically, the Òlarge cell typeÓ has round cells with nucleoli, while the Òanaplastic typeÓ has angular, pleomorphic cells with nuclear molding. 

 

The large cell/anaplastic subtype has a poorer prognosis compared to the classic and nodular/desmoplastic subtypes.  A variant of the latter showing extreme nodularity has the best prognosis.

 

The medulloblastoma is currently thought to arise from progenitors in the external granular cell layer in the cerebellum.  In some 50% of cases, a 17p deletion is detectable, and c-myc overexpression has been associated with large cell/anaplastic morphology.

 

Medulloblastoma should be differentiated from the more recently described atypical teratoid/rhabdoid tumor that is usually seen in children less than 2 years, contains the typical Òrhabdoid cellsÓ, frequently along with primitive small cells, epithelial, or mesenchymal elements, and manifests a diverse immunophenotype, including EMA positivity.

 

 

References

 

1.    Eberhart CG, Burger PC.  Anaplasia and grading in medulloblastomas. Brain Pathol. 2003; 13:376-85.

2.    Brown HG, Kepner JL, Perlman EJ, Friedman HS, Strother DR, Duffner PK, Kun LE, Goldthwaite PT, Burger PC.  "Large cell/anaplastic" medulloblastomas: a Pediatric Oncology Group Study.  J Neuropathol Exp Neurol. 2000; 59:857-65.

3.    McManamy CS, Lamont JM, Taylor RE, Cole M, Pearson AD, Clifford SC, Ellison DW; United Kingdom Children's Cancer Study Group.  Morphophenotypic variation predicts clinical behavior in childhood non-desmoplastic medulloblastomas.  J Neuropathol Exp Neurol. 2003; 62:627-32.

4.    Eberhart CG, Kepner JL, Goldthwaite PT, Kun LE, Duffner PK, Friedman HS, Strother DR, Burger PC.  Histopathologic grading of medulloblastomas: a Pediatric Oncology Group study.  Cancer 2002; 94:552-60.

5.    Burger PC, Yu IT, Tihan T, Friedman HS, Strother DR, Kepner JL, Duffner PK, Kun LE, Perlman EJ.  Atypical teratoid/rhabdoid tumor of the central nervous system: a highly malignant tumor of infancy and childhood frequently mistaken for medulloblastoma: a Pediatric Oncology Group study.  Am J Surg Pathol. 1998;  22:1083-92.

6.    WHO Classification of Tumors 2000: Pathology & Genetics of the Tumours of the Nervous System.  Eds, Kleihues P & Cavenee WK.

 

 

Case 6

 

Presenter: Adil Zarif, M.D.

Attending: Pincas Bitterman, M.D.

 

Diagnosis: Sertoli Cell Tumor, Poorly Differentiated, with Malignant Stromal Heterologous Elements and Necrosis

 

Important Differential Diagnosis

á      Sertoli-Leydig Cell Tumor

á      Rhabdoid Tumor

á      Rhabdomyosarcoma

á      Granulosa Cell Tumor

á      Endometrioid Carcinoma

á      Carcinoid Tumor

 

Key Morphologic Features

á      Characterized by a predominant pattern of hollow or solid tubules, dispersed within a fibrous stroma that contains no Leydig cells

á      Sarcomatoid and solid pattern is also present

á      Heterologous elements composed of malignant rhabdomyoblastic differentiation

 

Key Ancillary Studies

á      Immunohistochemistry of Sertoli Cell Component:

á      Positive Ð Inhibin and Cytokeratin

á      Negative Ð EMA and PLAP

á      Immunohistochemistry of Heterologous Component:

á      Positive Ð Desmin, MSA, and Vimentin

á      Negative Ð SMA, EMA, Cytokeratin, and Inhibin

 

Important Features

     Sertoli cell tumor of the ovary is a very uncommon tumor described mainly in case reports.  It has similar morphologic characteristics to Sertoli-Leydig cell tumors of the ovary without Leydig cells.  Heterologous elements are seldom seen.  Patients typically are less than 30 years of age and present with a palpable abdominal mass.  Two-thirds of tumors are hormonally active: 70% secrete estrogen while 16% secrete androgens.  Their prognosis is closely related to their stage and degree of differentiation.

 

References

 

1.       Nolan T, et al.: Recurrence of a Gonadal Stromal Cell Tumor (Sertoli Leydig Cell with Heterologous Elements) in a Teenager. Gynecologic Oncology 1983;15:111-119.

2.       Guerard M, et al.: Ovarian Sertoli-Leydig Cell Tumor with Rhabdomyosarcoma: An Ultrastructural Study. Ultrastructural Pathology 1982;3:347-358.

3.       Scorpio R, et al.: Pathologic Case of the Month. Arch. Pediatric Adolescent Med.  2000;154(4):419-420.

4.       Young R, et al.: Ovarian Sertoli-Leydig cell tumors. A clinicopathologic analysis of 207 cases. Am. J. Surg. Pathol. 1985;9:543-569.

5.       Prat J, et al.: Ovarian Sertoli-Leydig cell tumors with heterologous elements. (ii) Cartilage and skeletal muscle: a clinicopathologic analysis of twelve cases. Cancer 1982;50:2465-2475.

6.       Young R, et al.: Ovarian Sertoli-Leydig cell tumors with heterologous elements. (i) Gastrointestinal epithelium and carcinoid: a clinicopathologic analysis of thirty-six cases. Cancer 1982;50:2448-2456.     

7.       Young R and Scully R: Sex Cord-Stromal, Steroid Cell, and Other Ovarian Tumors with Endocrine, Paraendocrine, and Paraneoplastic Manifestations. BlausteinÕs Pathology of the Female Genital Tract 2002;Chapter 19:905-966.

Case 7

 

Presenter:  Frances Manosca, MD

Attending:  Melvin Schwartz, MD

 

Diagnosis:  Multilocular renal cyst (Cystic nephroma)

 

Important Differential Diagnosis

á      Cystic partially differentiated nephroblastoma

á      Cystic renal cell carcinoma

á      Renal retention cyst

á      Cystic renal dysplasia

           

Key Morphologic Features

á      Gross:      Expansile mass surrounded by fibrous pseudocapsule

Interior composed of cysts and septa with no solid nodules

á       Microscopic:   Cysts lined by flattened, hobnail, or cuboidal epithelium

Septa contain epithelial structures resembling renal tubules

Septa may not contain epithelial cells with clear cytoplasm or  

skeletal muscle fibers

 

Key Ancillary Studies

á      Immunohistochemistry: AE1/AE3 highlight the epithelial nature of the cysts and tubules; EMA shows variable reactivity.  SMA demonstrates the smooth muscle nature of the material in the stroma.

á      Electron microscopy: Cells lining the cysts have short microvilli, closely resembling the epithelium of the collecting tubules.

 

Important Features

á      Benign neoplasm which occurs in boys less than 4 years old, second peak in women over 30 years old

á      Cannot be reliably distinguished from malignant neoplasms namely cystic renal cell carcinoma, by radiological studies

á      Require complete resection with clear margins because of uncertainty of diagnosis and to evaluate microscopically for classification

á      Histologically, related to cystic partially differentiated nephroblastoma and cystic nephroblastoma

 

References

 

1.     Eble JN, Bonsib SM: Extensively Cystic Renal Neoplasms: Cystic Nephroma, Cystic Partially Differentiated Nephroblastoma, Multilocular Cystic Renal Cell Carcinoma, and Cystic Hamartoma of Renal Pelvis. Seminars in Diagnostic Pathology, Vol 15, No 1:2-20,1998

2.     Joshi VV,Beckwith JB: Multilocular cyst of the kidney (cystic nephroma) and cystic, partially differentiated nephroblastoma, terminology and criteria for diagnosis. Cancer 64:466-479,1989

3.     Nagao T,Sugano I, Ishida Y, Tajima Y, Masai M, Nagakura K, Matsuzaki O, Kondo Y, and Nagao K: Cystic partially differentiated nephroblastoma in an adult: an immunohistochemical, lectin histochemical and ultrastructural study. Histopathology 35:65-73,1999