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Year : 2020  |  Volume : 63  |  Issue : 4  |  Page : 684-686
Catechism (Quiz 10)

Department of Surgical Pathology, Tata Memorial Hospital (TMH), HBNI University, Parel, Mumbai, Maharashtra, India

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Date of Submission21-Sep-2020
Date of Acceptance22-Sep-2020
Date of Web Publication28-Oct-2020

How to cite this article:
Rekhi B. Catechism (Quiz 10). Indian J Pathol Microbiol 2020;63:684-6

How to cite this URL:
Rekhi B. Catechism (Quiz 10). Indian J Pathol Microbiol [serial online] 2020 [cited 2020 Dec 1];63:684-6. Available from: https://www.ijpmonline.org/text.asp?2020/63/4/684/299295

A 56-year-old female presented with intermittent pain abdomen for 3 years. She disclosed a history of vaginal hysterectomy with anterior repair, 6 years ago. She underwent tension-free vaginal tape procedure (TVT) for urinary incontinence, 5 years back.

Her abdominal examination revealed soft consistency and tenderness in the left iliac fossa.

Computed tomogram revealed a well-circumscribed, heterogeneously enhancing, exophytic soft tissue lesion, measuring 3.1 cm × 2.6 cm, arising from the 6th segment of liver, bulging into the subhepatic region, along with another, well-circumscribed, homogenously enhancing, left-sided adrenal mass, measuring 2.7 cm × 2.5 cm. The right ovary was unremarkable, while her left ovary was bulky, as a result of a solid enhancing lesion, measuring 4.6 cm × 3.6 cm × 4.4 cm. There was no ascites, omental, or peritoneal thickening.

She underwent a biopsy, which was reported as “atypical cells”, followed by excision of a perinephric mass.

Grossly, a soft tissue mass was received. On serial sectioning, a grey-white, cystic lesion was identified, measuring 2.5 cm × 2 cm × 1.1 cm.

Two microscopic images of the excised lesion are provided [Figure 1] and [Figure 2].
Figure 1:

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Figure 2:

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Q1.: What is the diagnosis?

Q2: Which immunohistochemical stains would be useful in this case.

Q3. Which underlying mutation is identified in a vast majority of these cases?

   Answers of Catechism (Quiz 9) Top

Answer 1. Poorly differentiated chordoma.

Answer 2. Brachyury, a marker of notochordal differentiation.

Answer 3. Loss of INI1/SMARCB1 in the tumor cells. Interspersed nuclei with positive staining are those of inflammatory cells (internal control).

   Discussion Top

Poorly differentiated chordoma has been recently described as another subtype of a chordoma, with a relatively aggressive clinical outcome.[1],[2] Very few cases have been reported, including a single case reported from our country.[3] This tumor is characterized by distinct clinicopathologic features, including young age, mostly clival-based (skull base) location; histopathologically, malignant cells, including variable number of cells with vacuolated cytoplasm; immunohistochemical expression of brachyury, a marker of notochordal differentiation, along with loss of immunoexpression of INI1/SMARCB1.[1],[2],[3],[4]

Differential diagnoses in such cases include malignant rhabdoid tumor and poorly differentiated carcinoma, as was considered in the present case, elsewhere, in view of immunohistochemical expression of epithelial antibody markers.[4] Diffuse immunoexpression of brachyury (member of the T-box transcription factor family and a marker of notochordal differentiation); lack of OCT 3/4 and glypican 3, along with complete loss of INI1/SMARCB1 were useful in ruling out a germ cell tumor in the present case. It is noteworthy that glypican 3 immunopositivity can be seen in chordoma and brachyury positivity can be rarely seen in a germ cell tumor.[3],[5] Therefore, integration of morphological features with immunostains, including INI1 are necessary for a correct recognition of this tumor.

A correct diagnosis has significant implications, considering a poorly differentiated chordoma is invariably treated with surgical excision and radiotherapy, as recommended in the present case, in contrast to a germ cell tumor, which is relatively chemosensitive. An index or suspicion as well as awareness of this distinct entity are necessary for its correct diagnosis.
Figure 2: (a) Tumor cells displaying diffuse positivity for brachyury. DAB, ×400. (b) Tumor cells showing loss of INI1/SMARB1. Interspersed are inflammatory cells with positive staining (internal control). DAB, ×400

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Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

   References Top

Mobley BC, McKenney JK, Bangs CD, Callahan K, Yeom KW, Schneppenheim R, et al. Loss of SMARCB1/INI1 expression in poorly differentiated chordomas. Acta Neuropathol 2010;120:745-53.  Back to cited text no. 1
Hasselblatt M, Thomas C, Hovestadt V, Schrimpf D, Johann P, Bens S, et al. Poorly differentiated chordoma with SMARCB1/INI1 loss: A distinct molecular entity with dismal prognosis. Acta Neuropathol 2016;132:149-51.  Back to cited text no. 2
Rekhi B,Kosemehmetoglu K, Rane S, Soylemezoglu F, Bulut E. Poorly differentiated chordomas showing loss of INI1/SMARCB1: A report of two rare cases with diagnostic implications. Int J Surg Pathol 2018;26:637-43.  Back to cited text no. 3
Owosho AA, Zhang L, Rosenblum MK, Antonescu CR. High sensitivity of FISH analysis in detecting homozygous SMARCB1 deletions in poorly differentiated chordoma: A clinicopathologic and molecular study of nine cases. Genes Chromosomes Cancer 2018;57:89-95.  Back to cited text no. 4
Miettinen M, Wang Z, Lasota J, Heery C, Schlom J, Palena C. Nuclear brachyury expression is consistent in chordoma, common in germ cell tumors and small cell carcinomas, and rare in other carcinomas and sarcomas: An immunohistochemical study of 5229 cases. Am J Surg Pathol 2015;39:1305-12.  Back to cited text no. 5

Correspondence Address:
Bharat Rekhi
Room Number 818, Department of Surgical Pathology, 8th Floor, Annex Building, Tata Memorial Hospital, Dr E.B. Road, Parel, Mumbai - 400 012, Maharashtra
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/IJPM.IJPM_1174_20

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  [Figure 1], [Figure 2], [Figure 3]


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