Case # 1: Dena Shibib, D



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ILLINOIS

REGISTRY OF

ANATOMIC PATHOLOGY

CASE HISTORIES AND DIAGNOSES

JANUARY 23, 2012

Case # 1: Dena Shibib, D.O. and Michael Paterakos, M.D.

CASE HISTORY: A 64 year old African American woman was noted to have a 0.9 cm calcified thyroid nodule which was incidentally identified by MRI during workup for a cerebral aneurysm. An FNA of the thyroid nodule was performed with subsequent total thyroidectomy.

DIAGNOSIS: Follicular adenoacanthoma

DISCUSSION: Adenoacanthoma of the thyroid is a poorly defined entity. A paper by Mahoney et al. published in Histopathology in 1980 defines adenoacanthoma of the thyroid gland as a malignant neoplasm composed of an adenocarcinoma (either papillary or follicular) and an abundant component of histologically benign squamous epithelium. Positive immunohistochemical stains include: TTF-1, p63, CK 5/6 and focal positivity for thyroglobulin. Biologic behavior is uncertain but clinical course and prognosis depend on the pathological state of disease and the histology of the malignant glandular component.

Other squamous/squamoid lesions in the thyroid gland include:

▪ Solid Ultimobranchial Body Remnants (Solid Cell Nests)

▪ Squamous metaplasia

o May be seen several weeks to months after an FNA

o May be seen in papillary, mixed papillary and follicular carcinoma

▪ Mucoepidermoid carcinoma

o Gross: may be up to 10 cm, rubbery to firm, tan-brown to yellow-white

o Histology: anastomosing compact clusters of epidermoid cells and mucocytes surrounded by fibrous stroma; foci of squamous change

▪ Squamous cell carcinoma of the thyroid

o Gross: grey-white, firm with areas of necrosis

o Histology: squamous differentiation of tumor cells with no thyroid carcinoma in near proximity; vascular, perineural and perithyroidal tissue invasion

▪ Undifferentiated carcinoma

o Gross: large, fleshy mass with necrosis and hemorrhage

o Histology: poorly differentiated cells; tumor giant cells and osteoclast-like giant cells; abundant pleomorphism; increased mitotic figures with atypical mitoses; infiltration into surrounding tissues

REFERENCES:

1. DeLellis R, Lloyd RV, Heitz P, Eng C (eds). World Health Organization Classification of Tumours. Pathology and Genetics. Tumours of Endocrine Organs. Lyon: IARC Press; 2004.

2. Mahoney JP, Saffos RO, Rhatigan RM. Follicular adenoacanthoma of the thyroid gland. Histopathology 1980;4:547-577.

3. Mills S (ed). Sternberg’s Diagnostic Surgical Pathology. 5th ed. Philadelphia: Lippincott Williams & Wilkins; 2010.

4. Rosai J. Rosai and Ackerman’s Surgical Pathology. 10th ed. Philadephia: Mosby Elsevier; 2011.

5. Thompson L. Endocrine Pathology: Foundations in Diagnostic Pathology. Philadelphia: Churchill Livingston; 2006.

Case #2: Karan Saluja, M.D. and William G. Watkin, M.D.

CASE HISTORY: A 34 year old female presented in April 2011 with a history of right flank pain and protuberant abdomen. MRI was performed which showed large bilateral adrenal masses with heterogeneous signal intensity and fibrous situations. A right adrenalectomy was performed.

DIAGNOSIS: Adrenal Cortical Hyperplasia and Myelolipoma

KEY DIAGNOSTIC FEATURES:

• Congenital adrenal hyperplasia is a group of autosomal recessive disorders resulting from the deficiency of one of the five enzymes required for the synthesis of cortisol in the adrenal cortex. The most common is steroid 21-hydroxylase deficiency, accounting for > 90% of cases.

• Myelolipoma is a hormonally inactive, rare, benign neoplasm composed of mature adipose tissue admixed with hematopoietic elements.

• Origin is still uncertain. Varieties of mechanisms are proposed to underlie the etiology: role of ACTH and androgen stimulation; metaplasia of undifferentiated or pluripotential adrenal stromal cells or adrenal cortical cells; intra adrenal embryonic rests of bone marrow; and transmigration of hematopoietic stem cells during embryogenesis to the developing adrenal gland.

• Myelolipoma of the adrenal gland - first described by Gierke in 1905, but the term myelolipoma was first used by Oberling in 1929. Often discovered incidentally during autopsy with an incidence rate of 0.08 – 0.2%. Mean age at diagnosis is 50 years. Myelolipomas usually present as unilateral and solitary lesion but rarely can present bilaterally.

• Gross: The lesion has variegated appearance with areas showing yellow-tan soft lobulated adipose tissue admixed with firm, reddish brown and hemorrhagic areas. Microscopic: The hemorrhagic areas show a cellular proliferation of trilineage hematopoiesis. Compared to the bone marrow they have few early myeloid precursors, increased number of megakaryocytes, and rarely have well developed capillary-venous sinuses.

• Association of myelolipoma with other adrenal (congenital adrenal hyperplasia, cortical adenoma, adrenal ganglioneuroma) and hematological conditions (sickle cell anemia, thalassemia, hereditary spherocytosis) should be considered.

REFERENCES:

Bishop E, Eble JN, Cheng L, et al. Adrenal myelolipomas show nonrandom X-chromosome inactivation in hematopoietic elements and fat: support for a clonal origin of myelolipomas. Am J Surg Pathol. 2006;30:838-843.

Han M, Burnett AL, Fishman EK, Marshall FF. The natural history and treatment of adrenal myelolipoma. J Urol. 1997;157(4):1213-1216.

Hagiwara H, Usui T, Kimura T et al. Lack of ACTH and androgen receptor expression in a giant adrenal myelolipoma associated with 21-hydroxylase deficiency. Endocr Pathol. 2008;19(2):122-127.

Case #3: Michael Clarke, M.D. and Michael Kaufman, M.D.

CASE HISTORY: In 2009, a 68 year old male underwent a Whipple procedure for a non-invasive tubulovillous adenoma of the ampulla of Vater. In 2010, the patient was found to have a 2.9 cm mass in the left upper lobe of the lung with left paratracheal lymphadenopathy. A biopsy of the paratracheal lymph node demonstrated metastatic adenocarcinoma. A lobectomy was subsequently performed after a partial response to chemotherapy.

GROSS: The lobectomy specimen contained a 2.4 cm white-tan tumor with areas of necrosis.

HISTOLOGY: Microscopically, the mass demonstrated adenocarcinoma. The tumor cells were columnar to cuboidal with eosinophilic cytoplasm arranged in a cribriform pattern with abundant intraluminal necrosis. Tumor was present along the bronchial epithelium, possibly representing carcinoma in situ.

DIFFERENTIAL DIAGNOSIS:

• Metastatic adenocarcinoma

• Pulmonary Adenocarcinoma with Enteric Differentiation (PAED)

IMMUNOHISTOCHEMISTRY: Tumor cells: CK7 = negative; CK20 = positive; CDX-2 = positive; TTF-1 = negative; Napsin A = negative; Villin = positive. The tubulovillous adenoma demonstrated an identical staining pattern.

ADDITIONAL HISTORY: Review of the tubulovillous adenoma demonstrated no evidence of invasion. Additional testing, including upper and lower GI endoscopy, video capsule endoscopy, and CT enterography demonstrated no evidence of a primary GI malignancy. The tumor was clinically consistent with a primary lung tumor.

DIAGNOSIS: Pulmonary Adenocarcinoma with Enteric Differentiation (PAED)

KEY POINTS FOR PAED:

• Rare entity morphologically and ultrastructurally identical to metastatic colorectal carcinoma.

• Immunohistochemical staining pattern usually demonstrates CK7 positivity, with variable CK20, TTF-1, and CDX-2 positivity.

• Rare cases demonstrate an immunohistochemical staining profile identical to metastatic colorectal carcinoma.

• Clinical correlation with extensive screening for a GI malignancy is necessary to obtain the correct diagnosis.

REFERENCES:

1. Colby TV, Noguchi M, Henschke C, et al. Adenocarcinoma, in: Travis WD, Brambilia E, Müller-Hermelink HK, Harris CC, eds. World Health Organization Classification of Tumours. Pathology and Genetics. Tumours of the Lung, Pleura, Thymus and Heart. Lyon: IARC Press; 2004.

2. Tsao MS, Fraser RS. Primary pulmonary adenocarcinoma with enteric differentiation. Cancer 1991;68:1754–1757.

Case #3 (continued)

3. Yousem SA. Pulmonary intestinal-type adenocarcinoma does not show enteric differentiation by immunohistochemical study. Mod. Pathol. 2005;18:816-821.

4. Inamura K, Satoh Y, Okumura S, et al. Pulmonary adenocarcinomas with enteric differentiation: histologic and immunohistochemical characteristics compared with metastatic colorectal cancers and usual pulmonary adenocarcinomas. Am J Surg Pathol 2005;29:660–665.

5. Li HC, Schmidt L, Greenson JK, Chang AC, Myers JL. Primary pulmonary adenocarcinoma with intestinal differentiation mimicking metastatic colorectal carcinoma: case report and review of literature. Am J Clin Pathol 2009;131:129–133.

6. Hatanaka K, Tsuta K, Watanabe K, Sugino K, Uekusa T. Primary pulmonary adenocarcinoma with enteric differentiation resembling metastatic colorectal carcinoma: a report of the second case negative for cytokeratin 7. Pathology – research and practice 2011;207:188-191.

Case #4: Vivian Snyder, D.O. and William G. Watkin, M.D.

CASE HISTORY: A 76 year old female with no significant past medical history presented with low back pain. MRI revealed incidental findings of fluid in the endometrial cavity and multiple leiomyomas. Subsequent endocervical curettage, dilation and curettage, and hysteroscopy were performed.

DIAGNOSIS: Endometrial polyp containing sex cord-like elements

DIFFERENTIAL DIAGNOSIS:

• Histiocytic infiltrate

• Decidual cells

• Carcinoma

• PEComa

KEY DIAGNOSTIC FEATURES:

• Initially described by Morehead and Bowman in 1945

• In 1976, Clement and Scully described 14 cases and classified them into 2 groups:

• Endometrial stromal tumors with sex cord-like elements

o Focal sex cord-like areas in a background of an otherwise typical endometrial stromal nodule or endometrial stromal sarcoma

• Uterine tumor resembling ovarian sex cord tumor

o Predominant or exclusive pattern of cords, nests, and trabeculae resembling granulosa or Sertoli cell tumors of the ovary

• Recently considered rare neoplasms of uncertain malignancy with polyphenotypic immunohistochemical expression

o Variable staining for sex cord markers, epithelial markers, myoid markers, hormone receptors, and other miscellaneous markers

IMMUNOHISTOCHEMISTRY:

• Diffuse positivity for inhibin, pan-cytokeratin, ER, calretinin

• Focal positivity for WT-1

• Negative for Melan-A, smooth muscle actin, desmin

REFERENCES:

1. Abdullazade S, et al. Uterine tumors resembling ovarian sex cord-stromal tumors: synchronous uterine tumors resembling ovarian sex cord-stromal tumors and ovarian sex cord tumor. Annals of Diagnostic Pathology 2010;14:432-437.

2. Crum CP, Lee KR. Diagnostic Gynecologic and Obstetric Pathology. Philadelphia: Elsevier Saunders; 2006.

3. Czernobilsky B. Uterine Tumors Resembling Ovarian Sex Cord Tumors: An Update. International Journal of Gynecologic Pathology 2008;27:229-235.

4. De Leval L, et al. Diverse Phenotypic Profile of Uterine Tumors Resembling Ovarian Sex Cord Tumors: An Immunohistochemical Study of 12 Cases. Am J Surg Pathol 2010;34:1749-1761.

5. De Quintal MM, De Angelo Andrade LAL. Endometrial Polyp With Sex Cord-Like Pattern. International Journal of Gynecologic Pathology 2006;25:170-172.

Case #4 (continued)

6. Giordano G, et al. Clinicopathologic Features of 2 New Cases of Uterine Tumors Resembling Ovarian Sex Cord Tumors. International Journal of Gynecologic Pathology 2010;29:459-467.

7. Hurrell DP, McCluggage WG. Uterine tumor resembling ovarian sex cord tumour is an immunohistochemically polyphenotypic neoplasm which exhibits coexpression of epithelial, myoid and sex cord markers. J Clin Pathol 2007;60:1148-1154.

8. Irving JA, Carinelli S, Prat J. Uterine tumors resembling ovarian sex cord tumors are polyphenotypic neoplasms with true sex cord differentiation. Modern Pathology 2006;19:17-24.

9. Scully RE, Young RH, Clement PB. Atlas of Tumor Pathology, Third Series, Fascicle 23: Tumors of the ovary, maldeveloped gonads, fallopian tube, and broad ligament. Washington DC: Armed Forces Institute of Pathology; 1996.

Case #5: Theera Rojanapremsuk, M.D. and Igor Jovanovic, M.D., Ph.D.

CASE HISTORY: A 42 year old female presented with a left breast mass. The breast biopsy showed infiltrating ductal carcinoma, grade 3 with lymph node metastasis. Additional work up (CT scan of abdomen) revealed a hypervascular mass in the left adrenal gland. The patient underwent left breast lumpectomy with axillary node dissection and laparoscopic adrenalectomy.

GROSS: Received was a 48 grams adrenalectomy specimen. On section, there was a 5.3 x 4.2 x 3.0 cm well circumscribed mass with a thin white-tan fibrous capsule. The mass was composed of lobules of yellow golden tissue with bands of white fibrous tissue.

HISTOLOGY: An encapsulated neoplasm composed of cells arranged in large nests and sheets. The neoplastic cells are characterized by abundant eosinophilic, granular cytoplasm and nuclei with discernible nucleoli. Focally, the nuclei show pleomorphism and degenerative atypia. Of note, no evidence of increased mitotic activity, abnormal mitoses, or necrosis is present. There is no evidence of lymphovascular or capsular invasion.

DIFFERENTIAL DIAGNOSIS:

• Oncocytic adrenocortical adenoma

• Metastatic renal cell carcinoma

• Epithelioid angiomyolipoma

• Metastatic breast carcinoma

IMMUNOHISTOCHEMISTRY: Antimitochondrial antibody (mES-13) = positive; Vimentin = positive; CD 10 = focally positive; Calretinin = weakly positive; S100 = negative; Mart-1 = negative; Inhibin = negative; Pan-cytokeratin = negative; EMA = negative; HMB-45 = negative; Chromogranin = negative; Synaptophysin = negative

DIAGNOSIS: Oncocytic adrenal cortical adenoma

KEY POINTS FOR ONCOCYTIC ADRENOCORTICAL NEOPLASMS (OANs):

• OANs are rare adrenal gland neoplasms which are composed of mitochondria-rich epithelial cells demonstrating abundant granular eosinophillic cytoplasm.

• Use of the antimitochondrial antibody mES-13 is helpful in confirming the oncocytic nature of tumor cells.

• The Lin-Weiss-Bisceglia criteria is used to predict malignant potential.

REFERENCES:

1. Bisceglia M, et al. Adrenocortical Oncocytic Tumors: Report of 10 Cases and Review of the Literature. International Journal of Surgical Pathology 2004;12(3):231-243.

2. Wong D, et al. Oncocytic adrenocortical neoplasms - a clinicopathologic study of 13 new cases emphasizing the importance of the recognition. Human Pathology 2011;42:489-499.

Case #6: Timothy Walls, M.D. and William Watkin, M.D.

CASE HISTORY: A 32 year old male presented to the emergency department for progressive left lower leg pain. Angiography demonstrated occlusion of the left lower leg vasculature. The patient ultimately underwent a left below the knee amputation.

HISTOLOGY: Extensive occlusive organizing thrombosis of arteries and veins of leg compatible with thromboangiitis obliterans (Buerger’s disease). Larger arteries and veins show thombosis at varying stages. Most appear to be longer standing in which the lumen is completely occluded by fibrosis and vascular proliferation. Others appear more recent with organizing fibrin clot with some preservation of the lumen. In only a few vessels is there mild acute and chronic inflammation in the intima with the elastica preserved. No giant cells are identified.

DIAGNOSIS: Thromboangiitis obliterans (Buerger’s disease)

DIFFERENTIAL DIAGNOSIS:

• Polyarteritis nodosa

• Takayasu arteritis

• Giant cell arteritis

• Kawasaki’s disease

• Antiphospholipid antibody syndrome

• Drug use

• Diabetes

• Atherosclerosis

KEY POINTS FOR TAO:

• Characterized by occlusive segmental and multiple inflammatory lesions of medium-sized and small arteries and superficial veins

• Distinguished from other vasculitides by a highly cellular thrombus and sparing of the blood vessel wall

• Typical profile is a young male with an extensive smoking history

REFERENCES:

1. Buerger L. Thrombo-angiitis obliterans: A study of the vascular lesions leading to presenile spontaneous gangrene. The American Journal of the Medical Sciences 2009;337(4):274-284.

2. Hunder et al. Classification of and approach to the vasculitidies in adults. UpToDate June 28, 2011.

3. Malecki et al. Thromboangiitis obliterans in the 21st century-A new face of disease. Atherosclerosis 2009;206:328-334.

4. Olin JW and Shih A. Thromboangiitis obliterans (Buerger’s disease). Current Opinion in Rheumatology 2006;18:18-24.

5. Piazza G and Creager M. Thromboangiitis Obliterans. Circulation Journal of the American Heart Association 2010;121:1858-1861.

6. Puechal X and Fiessinger JN. Thromboangiitis obliterans or Buerger’s disease: challenges for the rheumatologist. Rheumatology 2007;46:192-199.

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