Registry of anatomic pathology case histories and diagnoses



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ILLINOIS

REGISTRY OF

ANATOMIC PATHOLOGY
CASE HISTORIES AND DIAGNOSES
JANUARY 28, 2013


Case #1: Chelsea Curry, D.O. and Robert Goldschmidt, M.D.
Patient History: The patient is a 67 year female who presented with postmenopausal bleeding and a feeling of pressure on her bladder. Her past medical history included a pelvic ultrasound in 2007 showing a 6.0 cm leiomyomatous mass. The current ultrasound shows the mass to be 11.0 cm at this time. She subsequently underwent an exploratory laparotomy, total abdominal hysterectomy, and bilateral salpingo-oophorectomy.
Gross: 14.0 cm multinodular, necrotic mass occupying the entire uterus
Histology: 95% of the tumor cells are in sheets with large pleomorphic nuclei and variable cytoplasm. Frank tumor necrosis is identified. Mitoses are present and range up to five per 10 high power fields. An occasional foci of intravascular involvement is seen. The other 5% of the tumor demonstrates low-grade architecture in the form of tumor nodules and lymphovascular invasion.
Positive Stains: ER, PR, CD10, β-catenin, cyclin D1
Negative Stains: AE1/AE3, cytokeratin 8/18, actin, desmin, caldesmon
Differential Diagnosis: leiomyosarcoma, endometrial stromal sarcoma, undifferentiated endometrial sarcoma, poorly differentiated carcinoma, carcinosarcoma
Current 2003 WHO Classification of Endometrial Stromal Tumors:

Tumor

Category/

Margin

Nuclear atypia

Nuclear pleomorphism

Prognosis

Treatment

Endometrial stromal nodule

Benign,

circumscribed



Minimal

Minimal

Benign

Excision

Endometrial stromal sarcoma

Malignant, low-grade invasive

Minimal

Minimal

5 year survival of 90%

TAH-BSO

+/- adjuvant therapy



Undifferentiated endometrial sarcoma

Malignant, high-grade invasive

Moderate to marked

Minimal to marked

Usually death within 3 years

TAH-BSO

+/- adjuvant therapy


The current WHO classification of endometrial stromal tumors does not account for tumors exhibiting features of both low-grade endometrial stromal sarcomas and high-grade undifferentiated endometrial sarcomas. This has lead to the recent proposal of new variants listed below.


Newly proposed variants:




Undifferentiated endometrial sarcoma with nuclear uniformity (UES-U)

High-grade endometrial stroma sarcoma

Histopathology

Monotonous uniform cells with oval to spindled nuclei, somewhat reminiscent of low-grade endometrial stromal sarcoma in addition to enlarged, hyperchromatic nuclei and prominent nucleoli

High-grade component:

vaguely nested round cells with enlarged nuclei, slightly irregular nuclear contours, and scant to moderate faintly eosinophilic cytoplasm



Low-grade component:

monomorphic, spindled cells in a fibrous background



Molecular Genetics

No consistent

mutation identified



t(10;17)(q22;p13)

YWHAE-FAM22

gene rearrangement







Undifferentiated endometrial sarcoma with nuclear uniformity (UES-U)

High-grade endometrial stroma sarcoma

Immunohistochemistry

ER and PR frequently positive

β-catenin positive



High-grade component:

ER, PR, CD10 negative

Cyclin D1 positive

Low-grade component:

ER, PR, CD10 positive



Cyclin D1 negative


References:

  1. Blaustein's Pathology of the Female Genital Tract, Sixth Edition, 2011.

  2. Chiang S & Oliva E. Recent developments in uterine mesenchymal neoplasm. Histopathology. 2013; 62; 124-37.

  3. Kurihara S, Oda Y. Ohishi Y et al. Endometrial stromal sarcomas and related high-grade sarcomas: immunohistochemical and molecular genetic study of 31 cases. Am. J. Surg. Pathol. 2008; 32; 1228-1238.

  4. Kurihara S, Oda Y, Ohishi Y et al. Coincident expression of beta-catenin and cyclin D1 in endometrial stromal tumors and related high-grade sarcomas. Mod. Pathol. 2010; 23; 225-234.

  5. Lee CH, Marino-Enriquez A, Ou W et al. The clinicopathologic features of YWHAE-FAM22 endometrial stromal sarcomas: a histologically high-grade and clinically aggressive tumor. Am. J. Surg. Pathol. 2012; 36; 641-653.

  6. Lee CH, Ali RH, Rouzbahman M et al. Cyclin D1 as a diagnostic immunomarker for endometrial stromal sarcoma with YWHAE-FAM22 rearrangement. Am. J. Surg. Pathol. 2012; 36; 1562-1570.

  7. World Health Organization Classification of Tumours. Pathology and Genetics: Tumours of the Breast and Female Genital Organs. Lyon: IARC Press, 2003.


Case #2: Vivian Snyder, D.O. and Michael Kaufman, M.D.
CASE HISTORY: A 51 year old female presented with blurry vision, severe headaches, and several falls. CT scan demonstrated bilateral parietal brain lesions. Review of her past medical history revealed multiple resections of tibial bone tumors in the 1980’s. Subsequent resection of the bilateral brain tumors was performed.
DIAGNOSIS:_Metastatic_giant_cell_tumor_of_bone_(GCTB)_DIFFERENTIAL_DIAGNOSIS'>DIAGNOSIS: Metastatic giant cell tumor of bone (GCTB)
DIFFERENTIAL DIAGNOSIS:

  • Brain tumors with giant cells

    • Giant cell glioblastoma

    • Subependymal giant cell astrocytoma

    • Pleomorphic xanthoastrocytoma

    • Ependymoma

  • Metastases


KEY DIAGNOSTIC FEATURES:

  • In 1925 Jaffe differentiated classical GCTB from other giant-cell-rich benign or malignant bone lesions

  • GCTB is defined by the WHO as:

    • Benign, locally aggressive neoplasm

    • Composed of sheets of neoplastic ovoid mononuclear cells interspersed with uniformly distributed large, osteoclast like giant cells

  • GCTB is rare and composes 4-5% of all primary bone tumors

  • Peak incidence age 20-45

  • Typically involves end of long bones (distal femur, proximal tibia, distal radius)


DISCUSSION:

  • Metastatic GCTB is rare

    • Most commonly metastasizes to the lung (1-9%)

    • There have been isolated case reports from other sites such as mediastinal and para-aortic lymph nodes, bone, skin, and breast

    • Our case is the first intra-axial metastasis confirmed by pathology

    • There is no current method to predict distant metastasis in GCTB based on histology or flow cytometry

    • Studies performed on risk factors for metastasis have been inconclusive

  • The osteo-clast like giant cells and their precursors express RANK and the mononuclear stromal cells express RANKL

    • RANKL is a key mediator of osteoclast activation

    • Denosumab is a monoclonal antibody that binds to RANKL and inhibits bone destruction and eliminates giant cells, promoting bone repair


REFERENCES:

  1. Balke M et al. Giant cell tumor of bone: Are we stratifying results appropriately? Clin Orthop Relat Res 2012;470:677-683.

  2. Branstetter DG, et al. Denosumab Induces Tumor Reduction and Bone Formation in Patients with Giant-cell tumor of bone. Clinical Cancer Research 2012;18(16):4415-4424.

  3. Cerroni L, et al. Cutaneous metastases of a giant cell tumor of bone: Case report. J Cutan Pathol 1990;17:59-63.

  4. Cowan RW, Singh G. Giant cell tumor of bone: A basic science perspective. Bone 2013;52:238-246.

  5. Gong L, et al. Histological and clinical characteristics of malignant giant cell tumor of bone. Virchows Arch 2012;460:327-334.

  6. Klenke FM et al. Giant cell tumor of bone: Risk factors for recurrence. Clin Orthop Relat Res 2011;469:591-599.

  7. Kremen TJ et al. Giant cell tumor of bone: Are we stratifying results appropriately? Clin Orthop Relat Res 2012;470:677-683.

  8. McCarthy EF. Giant-cell tumor of bone: An historical perspective. Clinical Orthopaedics and Related Research 1980;153:14-25.

  9. Miller IJ et al. A case of recurrent giant cell tumor of bone with malignant transformation and benign pulmonary metastases. Diagnostic Pathology 2010;5:62.

  10. Ozaki T et al. Intramedullary spinal cord metastasis following spontaneous malignant transformation from giant cell tumor of bone 16 years after pulmonary metastasis. J Orthop Sci 2011;16:119-124.

  11. Reid R, Banerjee SS, Sciot R. Giant cell tumour, in: Christopher DM, Fletcher K, Unni KK, Mertens F, eds. World Health Organization Classification of Tumours. Pathology and Genetics. Tumours of the Soft Tissue and Bone. Lyon: IARC Press; 2000.

  12. Thomas DM et al. Denosumab in patients with giant-cell tumor of bone: an open-label, phase 2 study. Lancet Oncol 2010;11:275-280.

  13. Thomas DM. RANKL, denosumab, and giant cell tumor of bone. Curr Opin Oncol 2012;24:397-403.

  14. Viswanathan S, Jambhekar NA. Metastatic giant cell tumor of bone: Are there associated factors and best treatment modalities? Clin Orthop Relat Res 2010;468:827-833.

  15. Wang H, Wan N, Hu Y. Giant cell tumor of bone: a new evaluating system is necessary. International Orthopedics 2012;36:2521-2527.

  16. Zhang Q, et al. Isolated cardiac metastasis from a histologically “benign” giant-cell tumor of the distal end of the femur. J Bone Joint Surg Am 2010;92:2725-2731.


Case #3: Theera Rojanapremsuk, M.D. and James Padgett M.D.
HISTORY: A 69 y/o female was found to have a 2.3 cm well-circumscribed right lower lobe lung nodule in 2007. In 2012, she was diagnosed with well-differentiated papillary thyroid carcinoma, treated with total thyroidectomy and radio-iodine. Although the lung nodule had been present since 2007, it had recently increased in size to 2.8 cm. She underwent a right thoracoscopy with lower lobe wedge resection.
GROSS: Received was a lung wedge resection specimen. On section, there was a 2.3 x 2.2 x 1.4 cm sharply circumscribed hemorrhagic mass that “shelled out” from the surrounding lung parenchyma.
HISTOLOGY: The lesion is separated from the surrounding lung parenchyma. Areas of blood-filled spaces predominate. Many areas show tumor cells arranged in sheets with scant intervening stroma. Papillary structures are seen. The neoplasm is composed of 2 cell types, round or stromal cells and cuboidal or surface cells. The round cells are arranged in sheets and the surface cells line papillary structures. Both cells are small and monomorphic . No evidence of increased mitotic activity, or atypia is present.
DIFFERENTIAL DIAGNOSIS:

  1. Sclerosing hemangioma of the lung or Pneumocytoma

  2. Well-differentiated adenocarcinoma

- lung primary

- metastasis



3) Well-differentiated neuroendocrine tumor (carcinoid)

IMMUNOHISTOCHEMISTRY : thyroid transcription factor (TTF-1), progesterone receptor, and vimentin = diffusely positive; cytokeratin 7, and EMA = focally positive; PAX-8 = negative

DIAGNOSIS: SCLEROSING HEMANGIOMA OF THE LUNG (SH) OR PNEUMOCYTOMA
KEY POINTS FOR SCLEROSING HEMANGIOMA OF THE LUNG (SH):

  • SH is a rare benign pulmonary tumor with significant female predilection.

  • Abundant evidence supports its epithelial derivation and its histogenesis from undifferentiated respiratory epithelium.

  • Morphologically, SH is a polymorphic tumor with various cytohistologic patterns.

  • The various cell components of SH, including surface cells, round cells, and stromal component yield different ultrastructural features and immunophenotypes.

  • The most important pitfall in the cytological differential diagnosis of SH is well-differentiated adenocarcinoma

  • Intraoperative frozen-section evaluation has an error rate of 25 to 56% and a deferred rate of 31%

  • Clinical awareness of this entity as a potential pitfall on cytology and intraoperative consultation is necessary to initiate the proper approach and avoid the improper approach


REFERENCES:

  1. Dettrick Andrew, Meikle Anne, Kwun M. Fong. “Fine-Needle Aspiration Diagnosis of Sclerosing Hemangioma (Pneumocytoma): Report of a case and Review of the Literature” Diagnostic CytopathologyDOI 10.1002/dc, 2012

  2. Kalhor, Neda, Gregg A. Staerkel, and Cesar A. Moran. "So-called Sclerosing Hemangioma of Lung: Current Concept." Annals of Diagnostic Pathology 14.1 (2010): 60-67

  3. "WHO 'blue Book' Update. Tumours of Lung, Thymus and Heart” Pathology International 54.S1,2004


Case #4: Zachary Michalicek, D.O. and Michael Kaufman, M.D.
Case History: A 34 year old female with no pertinent past medical history presented to NorthShore University’s emergency room complaining of several days of hemoptysis. No recent travel history or risk factors for tuberculosis. At a follow up visit with primary care, her symptoms had progressed to include substernal chest pain with inspiration. A CT scan with pulmonary embolism protocol was performed and revealed a 1.4 cm intraluminal tracheal mass 2 cm superior to the carina occupying 60% of the airway. The patient underwent flexible bronchoscopy with cautery snare for resection flush with the airway. Grossly, pathology received multiple fragments of bosselated white-tan tissue.
Histology: Mass of variable cellularity with cells running in fascicles and with vague storiforming. Edematous fibromyxoid background with prominent vascularity. Plump oval to spindle cells with rounded and tapered ends and eosinophilic cytoplasm. Patchy infiltration with plasma cells, lymphocytes and foamy histiocytes.
Differential Diagnosis: follicular dendritic neoplasm, low grade fibromyxoid sarcoma, inflammatory myofibroblastic tumor, desmoid tumor, exuberant granulation tissue
Special Studies: ALK-1 – positive (multifocal, weak); CD34 – negative; desmin – positive (multifocal); SMA – positive
FISH: ALK gene rearrangement confirmed
Diagnosis: Inflammatory myofibroblastic tumor
Key Points:

  • Inflammatory myofibroblastic tumor (IMT) is a true neoplasm with identified genetic abnormalities with a clonal origin.

  • Histologically, plump myofibroblasts are identified in fascicular and storiform arrangements in a variably hyalinized background with patchy infiltration of lymphocytes, plasma cells, and foamy histiocytes.

  • ALK staining can be seen in up to one half of IMTs and correlates well with the existence of an ALK gene rearrangement.

  • These neoplasms are often cured by complete resection, however up to 5% may behave in an aggressive fashion with local recurrence and/or metastases.


References:

  1. "ALK." Anaplastic Lymphoma Kinase. National Institute of Health, Mar. 2001. Web. 23 Jan. 2013. < http://ghr.nlm.nih.gov/gene/ALK>.

  2. Bridge, Julia A., et al. "Fusion of the ALK Gene to the Clathrin Heavy Chain Gene, CLTC, in Inflammatory Myofibroblastic Tumor." American Journal of Pathology 159.2 (2001): 411-16. Print.

  3. Butrynski MD, James E., et al. "Crizotinib in ALK-Rearranged Inflammatory Myofibroblastic Tumor." The New England Journal of Medicine 363.18 (2010): 1727-733. New England Journal of Medicine. 28 Oct. 2010. Web. 26 Dec. 2012.

  4. Chan MB, BS, FRCPath, John K., Wah Cheuk MB, BS, and Michio Shimizu MD. "Anaplastic Lymphoma Kinase Expression in Inflammatory Pseudotumors." The American Journal of Surgical Pathology 25.6 (2001): 761-68. Print.

  5. Coffin, MD, Cheryl M., et al. "ALK1 and P80 Expression and Chromosomal Rearrangements Involving 2p23 in Inflammatory Myofibroblastic Tumor." Modern Pathology 14.6 (2001): 569-76. Print.

  6. Cook MD, PhD, James R., et al. "Anaplastic Lymphoma Kinase (ALK) Expression in the Inflammatory Myofibroblastic Tumor." The American Journal of Surgical Pathology 25.11 (2001): 1367-371. Print.

  7. Devaney, Kenneth O., et al. "Inflammatory Myfibroblastic Tumor of the Head and Neck: Evaluation of Clinicopathologic and Prognostic Features." European Archives of Otorhinolaryngology 269 (2012): 2461-465. Print.

  8. Falini, Brunangelo, and Maria Paola Martelli. "Anaplastic Large Cell Lymphoma: Changes in the World Health Organization Classification and Perspectives for Targeted Therapy." Haematololgica 94.7 (2009): 897-900. Web. 23 Jan. 2013.

  9. Griffin, Constance A., et al. "Recurrent Involvement of 2p23 in Inflammatory Myofibroblastic Tumor." Cancer Research 59 (1999): 2776-780. American Association for Cancer Research. Web. 17 Dec. 2012.

  10. Lawrence, Brandon, et al. "TPM3-ALK and TMP4-ALK Oncogenes in Inflammatory Myofibroblastic Tumors." American Journal of Pathology 157.2 (2000): 377-84. Print.

  11. Marris, John M. "Inhibition of ALK Signaling for Cancer Therapy." Inhibition of ALK Signaling for Cancer Therapy. Clinical Cancer Research, 15 Sept. 2009. Web. 23 Jan. 2013.

  12. Qui MD, Xiafei, Elizabeth Montgomery MD, and Baocun Sun MD. "Inflammatory Myfibroblastic Tumor and Low-grade Myofibroblastic Sarcoma: A Comparative Study of Clinicopathologic Features and Further Observations on the Immunohistochemical Profile of Myofibroblasts." Human Pathologoy 39 (2008): 846-56. Print.

  13. Stoica, Gerald E. "Identification of Anaplastic Lymphoma Kinase as a Receptor for the Growth Factor Pleiotrophin." The Journal of Biological Chemistry 276.20 (2001): 16772-6779.


Case #5: William Gibson, M.D. and Mark Dieterich, M.D.
CASE HISTORY: 63 year old man with a large congenital pigmented nevus in the chest and neck, s/p partial excision with skin grafting in 1950s, complains of a 3.0 cm raised mass of the posterior neck arising in the area of prior surgery. A biopsy and subsequent excision was performed.
KEY DIAGNOSTIC FEATURES

  • Neoplastic component

    • Low power: multinodular, well-circumscribed with atypical epithelioid cells arranged in sheets, nests, and trabeculae and with areas of necrosis.

    • High power: pleomorphic spindle to epithelioid cells with prominent nucleoli, nuclear grooves and inclusions.

  • Background component: deep dermal nests of bland oval to spindle cells, neural cells, and melanin pigment


DIFFERENTIAL DIAGNOSIS

  • Primary vs. metastatic melanoma

  • Melanoma arising in a congenital nevus

  • Atypical proliferative nodule arising in a congenital nevus

  • Melanoma arising in a neurocristic hamartoma


IMMUNOHISTOCHEMISTRY

  • Positive: S100, pan-melanoma (HMB-45, Mart-1, tyrosinase)

  • Negative: Cytokeratin AE1/3, Synaptophysin, Chromogranin, TTF-1


DIAGNOSIS: Melanoma arising in a congenital pattern nevus with features of neurocristic hamartoma
KEY POINTS

  • Neurocristic Hamartoma

    • Rare congenital nevus exhibiting both nevoid and neural cell types

    • Existence as a distinct entity is controversial

    • Can develop malignancy

      • Low power: multinodular growth pattern with infiltration

      • High power: epithelioid to spindle cells with prominent nucleoli and mitoses

    • May exhibit a more indolent course compared to conventional melanoma

  • Giant Congenital Nevi

    • 2.5 % risk of malignant transformation

    • Highest in garment type lesions

  • Proliferative Nodules

    • Benign melanocytic proliferations that may exhibit atypia resembling melanoma

    • Atypical PNs beyond neonatal period should be considered borderline lesions


REFERENCES

  1. Pearson JP, Weiss SW, Headington JT. Cutaneous Malignant Neurocristic Tumors Arising in Neurocristic Hamartomas: A Melanocytic Tumor Morphologically and Biologically Distinct from Common Melanoma. Am J Surg Pathol. 1996 Jun;20(6):665-77.

  2. Linskey KR, Dias-Santagata D, Nazarian RM et al. Malignant Neurocristic Hamartoma: A Tumor Distinct From Conventional Melanoma and Malignant Blue Nevus. Am J Surg Pathol. 2011 Oct;35(10):1570-7.

  3. Krengel S, Hauschild A, Schäfer T. Melanoma risk in congenital melanocytic naevi: a systematic review.” Br J Dermatol. 2006 Jul;155(1):1-8.

  4. Phadke PA, Rakheja D, Le LP et al. Proliferative Nodules Arising Within Congenital Melanocytic Nevi: A Histologic, Immunohistochemical, and Molecular Analyses of 43 Cases. Am J Surg Pathol. 2011 May;35(5):656-69.

  5. Melanocytic tumors of the skin. David E. Elder and George F. Murphy. Fourth Series. Washington: Armed Forces Institute of Pathology: 2010. 146


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

Case History: A 74 year old female presented to clinic for right-sided nasal congestion and right ear discomfort. During endoscopy, an approximately 1 cm mass was seen at the base of the tongue, just left of the midline. The patient was unaware of the mass and displayed no symptoms of dysphagia, odynophagia or sensation of a foreign body. CT scan of the neck revealed an increased density within the posterior inferior left tongue base measuring 1.4 cm in greatest dimension. ENT was consulted and a flexible laryngoscopy was performed to reveal an approximate 1 cm fleshy, round, smooth nodule at the base of the tongue. A biopsy was recommended and performed.

Histology: Infiltrative neoplasm comprised of epithelial cells with clear cytoplasm arranged in cords and nests within a hyalinized stroma. There was only mild nuclear atypia and no significant mitotic activity

Differential diagnosis: Clear cell oncocytoma, clear cell myoepithelioma, mucoepidermoid carcinoma clear cell variant, acinic cell adenocarcinoma clear carcinoma, epithelial-myoepithelial carcinoma, metastatic renal cell carcinoma

Special Studies: The cells contained glycogen demonstrated with the PAS and PAS diastase stains. Immunostains demonstrated the tumor cells are positive for cytokeratin {7, 14, 8/18(patchy) MA-903} and P63 but they are negative for CEA, smooth muscle actin, S100 protein, and CD117. Ki-67 showed a very low labeling index.

FISH: EWSR1 rearrangement and EWSR1-ATF1 fusion

Diagnosis: Hyalinizing Clear Cell Carcinoma of the Salivary Gland

Key Points

  • HCCC is a malignant epithelial salivary gland tumor which demonstrates monomorphic cells with clear appearing cytoplasm (with or without stromal hyalinization)

  • It is an uncommon tumor that frequently occurs in intraoral sites with the palate being the most common location

  • It can be difficult to differentiate the neoplasm from other clear cell neoplasms morphologically; however, recent molecular studies have demonstrated a EWSR1-ATF1 fusion in HCCC which can help distinguish it from its fellow clear cell counterparts.

  • HCCC is the first epithelial neoplasm to demonstrate this fusion


References:

  1. Antonescu CR, Katabi N, Zhang L, et al. EWSR1-ATF1 fusion is a novel and consistent finding in Hyalinizing clear-cell carcinoma of salivary gland. Genes Chromosomes Cancer. 2011;50;559-570

  2. Thway Kim, MBBS, BSc, FRCPath and Fisher Cyril, MD, DSc, FRCPath. Tumors with EWSR1-CREB1 and EWSR1-ATF1 Fusions: The Current Status. American Journal of Surgical Pathology. Volume 36, No. 7, July 2012

3. Wenig, Bruce M. Atlas of Head and Neck Pathology. 2nd Edition, Saunders Elsevier 2008


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