John H. Stroger, Jr. Hospital of Cook County Advocate Lutheran General Hospital Jesse Brown Veterans Affairs Medical Center University of Illinois Medical Center Illinois Registry of Anatomic Pathology



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John H. Stroger, Jr. Hospital of Cook County

Advocate Lutheran General Hospital

Jesse Brown Veterans Affairs Medical Center

University of Illinois Medical Center


Illinois Registry of Anatomic Pathology
Case Histories and Diagnoses

September 22, 2014


Case 1: Lymphogranuloma Venereum

Presenter: Dr. Kyle Meinke, DO; Attending: Dr. Michael Pins, MD


Clinical History: The patient is a 26 year old female who presented with right lower abdominal/groin pain, described as a heavy pressure/pain sensation without radiation. The patient was also complaining of drenching night sweats for several days, which would resolve and recur. The patient denies any association with food and had no nausea, vomiting, diarrhea, or weight loss. The patient denied any recent sick contacts, travel history, or tuberculosis exposure. No vaginal bleeding or menstrual irregularity was noted. The patient was also taking oral contraceptive medication. As per the patient, she is also sexually active with her fiancé, and they are in a monogamous relationship for the past 5 years.
Diagnosis: Lymphogranuloma Venereum
Differential Diagnosis:

  • Tuberculosis/mycobacterial infection

  • Fungal infection

  • Bartonella henselae

  • Tularemia

  • Yersinia


Key Microscopic Features:

  • Pelvic lymph node with necrotizing granulomatous lymphadenitis

  • Areas of neutrophilic abscesses

  • Serpiginous and stellate necrotic areas


Immunohistochemical and special stains: GMS for fungus and Fite were both negative
Discussion:

In lymph nodes that have a necrotizing granulomatous appearance on histology, it is important to consider several infectious etiologies. Many of the differential diagnoses presented can have strikingly similar features on lymph node histology. With the aid of good clinical history and ancillary testing, one can narrow the differential down to the correct diagnosis. For our case, the history of a monogamous relationship was a complicating factor in arriving at our diagnosis, however, given that LGVs clinical presentation in females can be later as compared to males, the fact that the patient had pelvic lymphadenopathy, and the use of microimmunofluorescence serologic testing for Chlamydia trachomatis, we were able to confidently arrive at the proper diagnosis.


References:

  1. Mabey D, Peeling RW. Lymphogranuloma venereum. Sex Transm infect. 2002; 78:90-92.

  2. Smith EB, Custer RP. The histopathology of lymphogranuloma venereum. J Uro.l 1950; 63: 546-563.

  3. She RC, et al. Correlation of Chlamydia and Chlamydophila spp. IgG and IgM antibodies by microimmunofluorescence with antigen detection methods. J Clin Lab Ana.l 2011; 25:305-308.

  4. Van Dyck E, Piot, P. Laboratory techniques in the investigation of chancroid, lymphogranuloma venereum and donovanosis. Genitourin Med. 1992, 68:130-133.

  5. Cantrell RW, Jensen JH, Reid D. Diagnosis and management of tuberculous cervical adenitis. Arch Otolaryngol. 1975; 101:53-57.

  6. Mohapatra, PR, Janmeja, AK. Tuberculous lymphadenitis. J of Assoc of Physicians of India. 2009; 57: 585-590.

  7. Nandennavar M, Cyriac S, Krishnakumar, Sagar T G. Immune hemolytic anemia in a patient with tuberculous lymphadenitis. J Global Infect Dis. 2011;3:89-91.

  8. Sansonetti PJ. War and peace at mucosal surfaces. Nat Rev Immunol. 2004 Dec; 4(12):953-64.

Case 2: Crohn Disease

Belinda Sun, MD, PhD; Attending: Michael Pins, MD


Clinical History: The patient is a 14 year-old South Asian female who presented with lower lip swelling for 3 months. She was treated with antibiotics without improvement. In the last 3 weeks, she developed right facial swelling and mild dysphagia. Otherwise, she had no other significant symptoms. She had no significant past medical, travel or family history.
CT image showed subcutaneous abscess at the anterior mandible region and diffused bilateral lymphadenopathy at the perimandibular region. Biopsy of the submucosal lesion showed fibrotic tissue with acute and chronic inflammation, and non-necrotizing granuloma.
The patient was then lost for follow up. Two years later, the patient presented in the emergency room with severe abdominal pain and bloody diarrhea. Colonoscopy was performed and biopsy showed ileal and colonic mucosa with non-necrotizing granuloma, acute and chronic inflammation, cryptitis, crypt abscess, distortion and drop out compatible with Crohn disease. Serologic studies also favor Crohn disease.
Diagnosis: Crohn Disease
Differential Diagnosis:

  • Crohn disease

  • Melkersson Rossenthal Syndrome, Forme fruste (orofacial granulomatosis, granulomatous cheilitis, Cheilitis granulomatosa of Miescher)

  • Sarcoidosis


Key Microscopic Features:

  • Non-necrotizing granuloma

  • Acute and chronic inflammation

  • Previously presented as orofacial granulomatosis, two years later presented with typical ileitis and colitis with granuloma, compatible with Crohn disease


Discussion:

  • 40% of orofacial granulomatosis with initially unknown etiology were eventually diagnosed with intestinal Crohn disease.

  • All patients with orofacial granuloma need to be closely followed up for Crohn disease.


References:

  1. Zbar AP, et al. Oral Crohn's disease: is it a separable disease from orofacial granulomatosis? A review. J Crohns Colitis. 2012 Mar; 6(2):135-42.

  2. Elias MK, et al. The Melkersson-Rosenthal syndrome: a retrospective study of biopsied cases. J Neurol. 2013 Jan; 260(1):138-43.



Case 3: Synchronous Undifferentiated and Medullary Carcinomas of The Colon; Recurrence Of Undifferentiated Colonic Carcinoma in The Peripancreatic Retroperitoneum

Presenter: Shohreh Eliaszadeh, MD ; Attendings: Dr. John Groth, MD, Dr. Elizabeth Wiley, MD, and Dr. Robert Cabay, MD, DDS


Clinical History: A 34-year-old male with a 10-year history of ulcerative colitis presented at an outside hospital for fevers and chills. Colonoscopy and biopsy revealed severe pan-colitis with multiple masses, the largest being in the hepatic flexure. He subsequently underwent a subtotal colectomy, which revealed eight masses on gross inspection, the largest measuring 11.5 cm in greatest dimension. He presented to our institution one year later with a pancreatic mass. Fine needle aspiration biopsy was performed. Immunohistochemically the tumor cells from the pancreatic mass were positive for CK7 and negative for CK20 and CDX2. The clinical impression was that of a pancreatic primary with metastases to the colon. The original resection slides were requested and reviewed. The colonic tumor was positive for CK7 and negative for CK20 and CDX2.
Final Diagnosis: Synchronous undifferentiated and medullary carcinomas of the colon; recurrence of undifferentiated colonic carcinoma in the peripancreatic retroperitoneum.
Differential Diagnosis:

  • Undifferentiated carcinoma of colon vs. pancreas

  • Medullary carcinoma of colon vs. pancreas


Key Microscopic Features:

An FNA of pancreatic mass showed oval to polygonal mononuclear cells with hyperchromatic nuclei and abundant foamy cytoplasm, with rare pleomorphic appearing giant cells (CK7+, CK20-, and CDX2-). The microscopy from the colon mass shows an infiltrating tumor with a proliferation of pleomorphic epithelioid cells with abundant eosinophilic cytoplasm, and scattered pleomorphic giant cells. CK7, CK20, CDX2, were performed and were similar to the FNA sample. Also on a slide from the colonic mass an area was identified in which a tubular and villiform polyp was adjacent to a colonic mass. CK7, CK20, CDX2, were performed on this area.


Ancillary Studies: For the colonic mass

Immunohistochemistry:

Positive IHC: AE1/3Vimentin, CEA, CK5/6 (focal), HCG (Rare), P63 (Rare), EGFR (Strong membranous), MSH2, MSH6

Negative IHC: P53, S100, HMB45, CD68, Her2neu, TTF-1, EBER, MLH1, PMS2
Other studies:

MSI testing: MSI-H

Kras mutation: Not detected

BRAF V600E mutation: Absent

Mutational analysis of MLH1 gene: Negative
Discussion:

1. Aberrant CK7/CK20/CDX2 profiles are associated with IBD and MMR deficiency

2. IBD neoplasia is associated with MMR deficiency in 18% of cases

3. There is a suggestive relationship between IBD and Lynch in a subset of cases




References:

  1. Ahmad T, Tamboli CP, Jewell D, et al. Clinical relevance of advances in genetics and pharmacogenetics of IBD. Gastroenterology. 2004; 126: 1533–1549.

  2. Lugli A, Tzankov A, Zlobec I, and Terracciano LM. Differential diagnostic and functional role of the multi-marker phenotype CDX2/CK20/CK7 in colorectal cancer stratified by mismatch repair status . Modern Patholog.y.2008( 21): 1403–1412.

  3. Bagnoli S, Putignano AL, Melean G, et al. Susceptibility to refractory ulcerative colitis is associated with polymorphism in the hMLH1 mismatch repair gene. Inflamm Bowel Dis. 2004; 10:705–70.

  4. Caruso ML, Cristofaro G, Lynch HT: HNPCCLynch syndrome and idiopathic inflammatory bowel disease: A hypothesis on sharing of genes. Anticancer Res. 1997; 17:2647-2649.

  5. Consortium TWTCC. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature. 2007; 447: 661–678.

  6. Duerr RH. Barmada, MM. Zhang, L, et al. Evidence for an inflammatory bowel disease locus on chromosome 3p26: linkage transmission/disequilibrium and partitioning of linkage. Hum Mol Genet. 2002; 11:2599– 2606.

  7. Hampe J, Lynch NJ. Daniels, S, et al. Fine mapping of the chromosome3p susceptibility locus in inflammatory bowel disease. Gut. 2001; 48: 191–197.

  8. Hugot JP, Laurent-Puig P, Gower-Rousseau C, et al. Mapping of a susceptibility locus for Crohn’s disease on chromosome 16. Nature. 1996; 379:821– 823.

  9. Isabelle Tournier, Myriam Vezain,Alexandra Martins. A Large Fraction of Unclassified Variants of the Mismatch Repair Genes MLH1 and MSH2 Is Associated With Splicing Defects. Hum Mutat.2008; 29(12): 1412–1424.

  10. Lakatos PL, Lakatos L. Risk for colorectal cancer in ulcerative colitis: Changes, causes and management strategies. World J Gastroentero.l 2008; 14(25): 3937-3947.

  11. Lashner BA, Heidenreich PA, Su GL, Kane SV, Hanauer SB. Effect of folate supplementation on the incidence of dysplasia and cancer in chronic ulcerative colitis. Gastroenterology. 1989; 97: 255-9.

  12. Magali Svrcek, Jamila El-Bchiri, Alexandra Chalastanis. Specific Clinical and Biological Features Characterize Inflammatory Bowel Disease–Associated Colorectal Cancers Showing Microsatellite Instability. J Clin Oncol. 2007; 25:4231-4238.

  13. Nuako KW, Ahlquist DA, Mahoney DW, Schaid DJ, Siems DM, Lindor NM. Familial predisposition for colorectal cancer in chronic ulcerative colitis: A case-control study. Gastroenterolog.y 1998; 115: 1079-83.

  14. Satsangi J, Parkes M, Louis E, et al. Two stage genome-wide search in inflammatory bowel disease provides evidence for susceptibility loci on chromosomes 3, 7 and 12. Nat Genet. 1996; 14:199 –202.

  15. Tatsumi N, Kushima R, Vieth M. Cytokeratin 7/20 and mucin core protein expression in ulcerative colitis-associated colorectal neoplasms. Virchows Arch. 2006 Jun; 448(6):756-62. Epub 2006 Apr 12.

  16. Tatsumi N, Mukaisho K, Mitsufuji S. Expression of cytokeratins 7 and 20 in serrated adenoma and related diseases. Dig Dis Sci. 2005 Sep; 50(9):1741-6.


Case 4: High Grade Serous Carcinoma of Fallopian Tubal Origin

Presenter Sara Faiz MD; Attending John Groth MD


Clinical History: A 71-year-old female presented to an outside hospital for abdominal pain. CT and MRI imaging showed a nonspecific infiltration/enhancement along the omentum in the mid and right lower quadrant with mural thickening and enhancement of a number of small bowel loops in the abdomen and pelvis. She was referred to our institution for a diagnostic laparoscopy and possible sigmoidoscopy for suspected diverticulitis. Laparoscopy showed diffuse abdominal nodules, and the patient subsequently underwent an open total hysterectomy, bilateral salpingo-oophorectomy, omentectomy and right hemicolectomy.
Diagnosis: Serous carcinoma, high grade
Differential Diagnosis:

  • Site of origin?

    • Endometrial

    • Peritoneal

    • Ovarian

    • Fallopian tube


Key Microscopic Features:

  • Papillary/glandular tumor composed of partly dyscohesive polygonal cells with high nuclear/cytoplasmic ratios and high mitotic index (>10mitoses/10 high power fields)

  • Branching papillary fronds

  • Slit-like fenestrations, glandular complexity, ruffled luminal borders, moderate to marked nuclear atypia with marked pleomorphism, prominent nucleoli and stratification.

  • Stromal invasion (irregular or destructive infiltration by small glands or sheets of cells)


Immunohistochemical and special stains:

  • P53 negative


Discussion:

  • Normal p53 staining pattern is heterogeneous, focal (1 – 3 %) and weak. Abnormal p53 staining has two patterns; intense nuclear staining (>60%) due to missense mutation or absent p53 staining is significant due to nonsense mutation.

  • Traditionally carcinomas were classified as primary ovarian, peritoneal or tubal if the largest tumor bulk was located in the respected organ, the site of origination depends now on a pragmatic approach

  • Extensive sampling of fallopian tube following the SEE-FIM protocol is important in high risk patients.

  • It is conceivable that all high-grade pelvic serous carcinomas could arise from tubal epithelium based on the finding of precursor lesions like Serous Tubal Intraepithelial Carcinoma and p53 Signature, in continuity with the invasive serous carcinomas.

  • Next generation sequences methods are being used to identify early lesions in routine cervical PAP specimens.



References:

  1. Carlson J, Roh MH, Chang MC, Crum CP. Recent advances in the understanding of the pathogenesis of serous carcinoma: the concept of low- and high-grade disease and the role of the fallopian tube. Diagnostic Histopathology. 2008 Aug;14(8):352-65.

  2. Conner JR, Meserve E, Pizer E, Garber J, Roh M, Urban N, et al. Outcome of unexpected adnexal neoplasia discovered during risk reduction salpingo-oophorectomy in women with germ-line BRCA1 or BRCA2 mutations. Gynecologic oncology. 2014 Feb;132(2):280-6.

  3. Crum CP, Herfs M, Ning G, Bijron JG, Howitt BE, Jimenez CA, et al. Through the glass darkly: intraepithelial neoplasia, top-down differentiation, and the road to ovarian cancer. The Journal of Pathology. 2013 Dec;231(4):402-12.

  4. Honda T, Kato H, Imamura T, Gima T, Nishida J, Sasaki M, et al. Involvement of p53 gene mutations in human endometrial carcinomas. International Journal of Cancer Journal International Du Cancer. 1993 Apr 1;53(6):963-7.

  5. Leonhardt K, Einenkel J, Sohr S, Engeland K, Horn LC. p53 signature and serous tubal in-situ carcinoma in cases of primary tubal and peritoneal carcinomas and serous borderline tumors of the ovary. International journal of gynecological pathology. 2011 Sep;30(5):417-24.

  6. McCluggage WG, Soslow RA, Gilks CB. Patterns of p53 immunoreactivity in endometrial carcinomas: 'all or nothing' staining is of importance. Histopathology. 2011 Oct;59(4):786-8.

  7. O'Shannessy DJ, Jackson SM, Twine NC, Hoffman BE, Dezso Z, Agoulnik SI, et al. Gene expression analyses support fallopian tube epithelium as the cell of origin of epithelial ovarian cancer. International Journal of MolecularSciences. 2013;14(7):13687-703.

  8. Reitsma W, de Bock GH, Oosterwijk JC, Bart J, Hollema H, Mourits MJ. Support of the 'fallopian tube hypothesis' in a prospective series of risk-reducing salpingo-oophorectomy specimens. European Journal of Cancer. 2013 Jan;49(1):132-41.

  9. Roh MH, Yassin Y, Miron A, Mehra KK, Mehrad M, Monte NM, et al. High-grade fimbrial-ovarian carcinomas are unified by altered p53, PTEN and PAX2 expression. Modern Pathology.. 2010 Oct;23(10):1316-24.

  10. Soslow RA, Han G, Park KJ, Garg K, Olvera N, Spriggs DR, et al. Morphologic patterns associated with BRCA1 and BRCA2 genotype in ovarian carcinoma. Modern pathology. 2012 Apr;25(4):625-36.



Case 5: Metastatic Nongestational Choriocarcinoma to the Placenta



Presenter: Rachel Gordezky, MD; Attending Steven Garzon, MD, John Groth, MD
Clinical History: A 42-year-old G10P9 female at 33 and 2/7 weeks presented with preterm premature rupture of membranes and had an emergency caesarian section, which occurred without complications, resulting in the birth of a healthy, female neonate. The placenta was submitted for pathological examination.
Diagnosis: Metastatic nongestational choriocarcinoma to the placenta
Differential Diagnosis:

  • Choriocarcinoma

    • Gestational

    • Placenta

    • Nongestational

  • Epithelioid trophoblastic tumor

  • Placental site trophoblastic tumor

  • Metastatic carcinoma


Key Microscopic Features:

  • Biphasic architecture

    • Mononuclear, epithelioid, cytotrophoblast-like cells with pale cytoplasm

    • Pleomorphic, multinucleate, syncytiotrophoblast-like cells

  • Prominent nucleoli and multiple mitoses

  • Prominent hemorrhage and necrosis


Immunohistochemical stains:

  • Positive: β-hCG, Ki-67 (>80%), PLAP

  • Negative: inhibin, p63


Ancillary Studies:

  • Microsatellite genotyping displayed the presence of maternal DNA only



Discussion:

  • In a patient diagnosed with choriocarcinoma not responding to standard therapies, one must consider nongestational choriocarcinoma as an alternative diagnosis

  • In order to differentiate nongestational and gestational forms of choriocarcinoma DNA analysis must be performed


References:

  1. Baergen, RN. Manual of Benirschke and Kaufman’s Pathology of the Human Placenta. 2005; 436-446.

  2. Buza, N; Rutherford, T; Hui, P. Genotyping Diagnosis of Nongestational Choriocarcinoma Involving Fallopian Tube and Broad Ligament: A Case Study. Int J Gynecol Pathol. 2013: 33; 58-63.

  3. Chapman-Davis, E; Hoekstra, AV; Rademaker, AW; Schink, JC; Lurain, JR. Treatment of nonmetastatic and metastatic low-risk gestational trophoblastic neoplasia: Factors associated with resistance to single agentmethotrexate chemotherapy. Gynecol Oncol. 2012: 125; 572-575.

  4. Diver, E; May, T; Vargas, R; Bernstein, M; Goldstein, D; Berkowitz, R. Changes in clinical presentation of postterm choriocarcinoma at the New England Trophoblastic Disease Center in recent years. Gynecol Oncol. 2013: 130; 483-486.

  5. Gulia, S;; Bajpai; J; Gupta, S; Maheshwari, A; Deodhar, K; Kerkar, RA; Seth, V; Rekhi, B; Menon, S. Outcome of Gestational Trophoblastic Neoplasia: Experience from a Tertiary Cancer Centre in India. Clinical Oncology. 2014: 26; 39-44.

  6. Hensely, JG; Shviraga, BA. Metastatic Choriocarcinoma in a Term Pregnancy: A Case Study. MCN Am J Matern Child Nurs. 2014: 29(1); 8-15.

  7. Hirata, Y; Yanaihara, N; Yanagida, S; Fukui, K; Iwadate, K; Kiyokawa, T; Tanaka; T. Molecular Genetic Analysis of Nongestational Choriocarcinoma in a Postmenopausal Woman: A Case Report and Literature Review. Int J Gynecol Pathol. 2012: 31; 364-368.

  8. Huang, F; Zheng, W; Liang, Q; Yin, T. Diagnosis and treatment of placental site trophoblastic tumor. Int J Clin Exp Pathol. 2013: 6(7); 1448-1451.

  9. Kanehira, K; Starostik, P; Kasznica, J; Khoury, T. Primary Intraplacental Gestational Choriocarcinoma: Histologic and Genetic Analyses. Int J Gynecol Pathol. 2013: 32(1); 71-75.

  10. Kim, JY; An, S; Jang, SJ; Kim, HR. Extrauterine Epithelioid Trophoblastic Tumor of Lung in a 35-year-old Woman. Korean J Thorac Cardiovasc Surg. 2013: 46; 471-474.

  11. Lai, CYL; Chan, KYK; Khoo, US; Ngan, HYS; Xue, WC; Chiu, PM; Tsao, SW; Cheung, ANY. Analysis of gestational trophoblastic disease by genotyping and chromosome in situ hybridization. Modern Pathology. 2004: 17; 40-48.

  12. Luiza, JW; Taylor, SE; Gao, FF; Edwards, RP. Placental site trophoblastic tumor: Immunohistochemistry algorithm key to diagnosis and review of literature. Gynecol Oncol Reports. 2014: 7; 13-15.

  13. Manu, V; Pillai, AK; Kumar, S; Chouhan, A. Placental site trophoblastic tumor with metastases – A case report. Med J Armed Forces India. 2013: 69; 68-70.

  14. Park, SH; Park, A; Kim, JY; Kwon, JH; Koh, SB. A case of non-gestational choriocarcinoma arising in the ovary of a postmenopausal woman. J Gynecol Oncol. 2009: 20(3); 192-194.

  15. Ryu, N; Ogawa, M; Matsui, H; Usui, H; Shozu, M. The Clinical Characteristics and Early Detection of Postpartum Choriocarcinoma. Int J Gynecol Cancer. 2014: 00; 00-00.

  16. Scott, EM; Smith, AL; Desouki, MM; Olawaiye, AB. Epithelioid Trophoblastic Tumor: A Case Report and Review of the Literature. Case Reports in Obstetrics and Gynecology. 2012: Article ID 862472; doi:10.1155/2012/862472.

  17. Seckl, MJ; Sebire, NJ; Berkowitz, RS. Gestational trophoblastic disease. Lancet. 2010: 376; 717-729.

  18. Seckl, MJ; Sebire, NJ; Fisher; RA; Golfier, F; Massuger, L; Cessa, C. Gestational trophoblastic disease: ESMO Clinical Practice Guidelines for diagnosis, treatment, and follow-up. Annals of Oncology. 2013; 24(6); vi39-vi50.

  19. Sung, WJ; Shin, HC; Kim, MK; Kim, MJ. Epithelioid Trophoblastic Tumor: Clinocopathologic and Immunohistochemical Analyses of Three Cases. The Korean Journal of Pathology. 2013: 47; 67-73.

  20. Suryanarayan, K; O’Hanlan, KA; Surti, U; Ishwad, CS; Nowels, K; Letourneau, D; Marina, N. Nongestational Choriocarcinoma in the Postpartum Period: A Case Report. J Pediatr Hematol Oncol. 1998: 20(2); 169-173.

  21. Zhao, J; Xiang, Y; Wan, XR; Feng, FZ; Cui, QC; Yang, XY. Molecular Genetic Analyses of Choriocarcinoma. Placenta. 2009: 30; 816-820.

  22. Zhao, J; Xiang, Y; Zhao, D; Ren, T; Feng, F; Wan, X. Isolated epithelioid trophoblastic tumor of the vagina: a case report and review of the literature. OncoTargets and Therapy. 2013: 6; 1523-1526.



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