Indian Journal of Pathology and Microbiology
Home About us Instructions Submission Subscribe Advertise Contact e-Alerts Ahead Of Print Login 
Users Online: 4233
Print this page  Email this page Bookmark this page Small font sizeDefault font sizeIncrease font size

  Table of Contents    
Year : 2015  |  Volume : 58  |  Issue : 2  |  Page : 229-231
Mullerian choristoma in a case of spinal dysraphism

1 Department of Pathology, Christian Medical College and Hospital, Ludhiana, Punjab, India
2 Department of Radiodiagnosis, Christian Medical College and Hospital, Ludhiana, Punjab, India

Click here for correspondence address and email

Date of Web Publication17-Apr-2015


It is extremely rare to find mullerian choristomas in association with spinal dysraphism, with <10 cases published in English literature. We report a case of heterotopic uterus and fallopian tube-like tissue within a lumbar subcutaneous lipoma associated with spina bifida and tethered cord. A 21-year-old lady presented with lumbar swelling since birth and dull pain in the lower back. Magnetic resonance imaging showed spina bifida at level L3 and L4, tethering of the cord and a subcutaneous lipomatous swelling. Biopsy revealed lobules of fibroadipose tissue embedded in which were seen organoid cystic structures containing prominent smooth muscle coats in their wall. These cystic structures were lined by the endometrium and showed fallopian tube-like papillary infoldings. Immunohistochemistry showed estrogen receptor positivity in the epithelium, stroma, and smooth muscles. The epithelial cells were also positive for cancer antigen 125 and cytokeratin 7 while the stromal cells showed CD10 positivity, supporting mullerian derivation. The pathogenesis and differential diagnosis of such lesions is discussed.

Keywords: Choristoma, immunohistochemistry, mullerian, spina bifida, tethered cord

How to cite this article:
Kwatra KS, Paul PA, Calton N, George S. Mullerian choristoma in a case of spinal dysraphism. Indian J Pathol Microbiol 2015;58:229-31

How to cite this URL:
Kwatra KS, Paul PA, Calton N, George S. Mullerian choristoma in a case of spinal dysraphism. Indian J Pathol Microbiol [serial online] 2015 [cited 2023 Sep 30];58:229-31. Available from:

   Introduction Top

Choristoma is defined as heterotopic tissue forming a tumor-like mass. It can be encountered in diverse locations throughout the body and can harbor different types of tissues. [1],[2],[3],[4] It is rare to find choristomas composed of mullerian tissue in the spine, with <10 cases reported in English literature. [5],[6]

   Case Report Top

A 21-year-old lady presented with swelling in the lumbar region since birth with intermittent dull aching pain in that region for the last 6 months. There was no history of weakness or numbness in the lower limbs. Symptoms of bladder or bowel dysfunction such as increased frequency, incontinence, and constipation were absent. Menstrual history was normal, and there was no association of lumbar pain with menstrual cycles.

Examination of the lumbar spine showed a soft, nontender, midline swelling in the lumbar region measuring 4 cm × 4 cm. Neurological examination revealed no sensory or motor deficits. Her general physical examination and rest of the systemic examination were normal. All the routine hematological and biochemical parameters were within normal limits.

Magnetic resonance imaging of the lumbo-sacral spine showed spina bifida at the level of L3 and L4 vertebrae with extradural fat communicating with an overlying subcutaneous lipomatous swelling. Furthermore, a linear tract was identified extending from the spinal canal, across the osseous defect, and ending into a rounded soft tissue-intensity nodule in the overlying subcutaneous fat [Figure 1]. There was tethering of the nerve roots with a low lying cord. Sacralization of L5 vertebra and mild scoliosis with convexity towards the left side were also present.
Figure 1: Magnetic resonance imaging is showing (a) tethering of nerve roots (white arrow) with overlying lipomatous swelling (arrowhead). (b) Soft-tissue intensity nodule within fat (arrowhead). (c) Defect in L4 lamina (white arrow) with nodule within fat (arrowhead)

Click here to view

Surgical intervention consisted of laminectomy from level L2 to L5, de-tethering of cord and removal of the lipomatous swelling. The excised specimen comprised of multiple fibro-fatty soft tissue pieces together measuring 7.0 cm × 4.5 cm × 1.5 cm along with few bone chips. On cutting, one of the soft tissue pieces showed a grey-white, firm nodule measuring 1.5 cm × 1 cm × 1 cm having a fine trabeculated cut surface.

Histologically, sections from the nodule showed an organoid cystic structure with a lumen lined by endometrium and surrounded by concentrically arranged smooth muscle bundles [Figure 2]a. The endometrium was, in some areas, thrown into papillary folds imparting a superficial semblance to  Fallopian tube More Details lining [Figure 2]a. The luminal aspect showed a single layer of columnar epithelium with underlying round, compactly arranged endometrial stromal cells [Figure 2]c. The surrounding areas showed mature adipose tissue amidst which were seen few similar organoid formations albeit of smaller size [Figure 2]b. Some of these comprised of epithelium and smooth muscle but lacked stromal cells. A glandular inclusion was also found within a nerve bundle [Figure 2]d.
Figure 2: (a) Organoid formation resembling uterus with papillary projections reminiscent of fallopian tube (H and E, ×40). (b) Smaller organoid formations in the surrounding adipose tissue (H and E, ×40). (c) Stromal cells are seen underneath the cuboidal epithelium (H and E, ×200). (d) Glandular inclusion within a nerve (arrow) (H and E, ×100)

Click here to view

On immunohistochemistry (IHC) [Figure 3], the epithelium, stromal cells and smooth muscle cells showed strong nuclear positivity for estrogen receptors (ER). The stromal cells were also positive for CD10, confirming their identity as endometrial stroma. The epithelial cells, in addition, showed positivity for cytokeratin 7 (CK7) and cancer antigen 125 (CA125). No other ectodermal, mesodermal or endodermal derivatives or immature tissues were identified. Histopathology and IHC findings were consistent with a diagnosis of mullerian choristoma.
Figure 3: Estrogen receptor positivity in epithelial, stromal and smooth muscle cells. CD10 positivity in the stromal cells. Cytokeratin 7 and cancer antigen 125 positivity in the epithelium (Immunohistochemistry, ×400)

Click here to view

Postoperative recovery of the patient was good, and the symptoms of low backache showed significant improvement on follow-up visits.

   Discussion Top

Mullerian choristomas are composed of endometrial, endosalpingeal and/or endocervical tissues. They have been described in diverse locations, such as the spinal cord, ureter, urinary bladder, sciatic nerve, etc. [6],[7] Spinal mullerian choristomas are usually found in the lumbo-sacral region and associated with neural tube defects. [6]

Histology shows organoid formations resembling uterus, composed of endometrium and myometrium. Rarely, fallopian tube-like or endocervical lining may also be encountered. [6] Besides, IHC can be utilized to confirm mullerian derivation. Tissues of mullerian origin show positivity for ER in the epithelial, stromal and smooth muscle cells. The epithelium is also positive for CA125 and CK7, and the endometrial stromal cells for CD10. [5],[6]

Differential diagnosis includes endometriosis, hamartoma, and teratoma. Endometriosis does not show organoid formations with smooth muscle. A hamartoma shows disorganized overgrowth of mature tissues normally present in the affected part. Teratoma is a tumor composed of a heterogeneous mixture of mature or immature tissues, derived from >1 germ layer. Since our case displayed uterus like formations and did not contain any ectodermal, endodermal or immature elements, a diagnosis of "mullerian choristoma" was rendered.

The association of mullerian choristomas with spinal dysraphism suggests a joint pathogenesis related to a developmental disorder of the lumbo-sacral spinal canal. [8] The caudal part of the neural tube originates from the trunk-tail node, cells wherein, have the potential for differentiating into multiple tissue types. After canalization, the caudal and rostral neural tubes merge. Simple misplacement of mullerian duct tissue, presumably of trunk-tail node origin, within the caudal neural tube could explain the presence of mullerian tissue at this site. Another explanation could be dorsal translocation of early paracoelomic tissues through the notochord and ventral neural plate. [8]

Development of the female reproductive system from the paramesonephric duct is regulated by various homeobox genes. [9] They not only regulate the development of normal mullerian system, but also their development at heterotopic sites leading to the formation of mullerian choristomas. [6]

Besides being a pathological curiosity, study of mullerian choristomas provide interesting insight into their pathogenesis. IHC is useful to confirm their mullerian histogenesis. It is important for the pathologist not to misdiagnose them as endometriosis, hamartoma or teratoma.

   Acknowledgment Top

Dr. Sarvpreet S Grewal for providing operative details.

   References Top

Christodoulidis G, Zacharoulis D, Barbanis S, Katsogridakis E, Hatzitheofilou K. Heterotopic pancreas in the stomach: A case report and literature review. World J Gastroenterol 2007;13:6098-100.  Back to cited text no. 1
Huelsen A, Falvey J, Whitehead M, Ding S. Education and imaging. Gastrointestinal: Large heterotopic gastric mucosa in the rectum. J Gastroenterol Hepatol 2012;27:1641.  Back to cited text no. 2
Fukuda S, Mukai S, Shimizu S, Kouchi M, Fujisaki S, Takahashi M, et al. Heterotopic gastric mucosa in the hilar bile duct mimicking hilar cholangiocarcinoma: Report of a case. Surg Today 2013;43:91-5.  Back to cited text no. 3
Scrofani R, Rossi RS, Antona C. Ectopic thyroid in the right ventricle. J Cardiovasc Med (Hagerstown) 2011;12:689-91.  Back to cited text no. 4
Kakkar A, Sharma MC, Garg A, Goyal N, Suri V, Sarkar C, et al. Uterus-like mass in association with neural tube defect: A case report and review of the literature. Pediatr Neurosurg 2012;48:240-4.  Back to cited text no. 5
Batt RE, Yeh J. Müllerianosis: Four developmental (embryonic) mullerian diseases. Reprod Sci 2013;20:1030-7.  Back to cited text no. 6
Head HB, Welch JS, Mussey E, Espinosa RE. Cyclic sciatica. Report of case with introduction of a new surgical sign. JAMA 1962;180:521-4.  Back to cited text no. 7
Rougier A, Vital C, Caillaud P. Uterus-like mass of the conus medullaris with associated tethered cord. Neurosurgery 1993;33:328-31.  Back to cited text no. 8
Du H, Taylor HS. Molecular regulation of mullerian development by Hox genes. Ann N Y Acad Sci 2004;1034:152-65.  Back to cited text no. 9

Correspondence Address:
Dr. Kanwardeep Singh Kwatra
Department of Pathology, Christian Medical College and Hospital, Ludhiana - 141 008, Punjab
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0377-4929.155326

Rights and Permissions


  [Figure 1], [Figure 2], [Figure 3]

This article has been cited by
1 Congenital Spinal Lipomatous Malformations. Part 1. Spinal Lipomas, Lipomyeloceles, and Lipomyelomeningoceles
Roy Harley Rhodes
Fetal and Pediatric Pathology. 2019; : 1
[Pubmed] | [DOI]


    Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
    Email Alert *
    Add to My List *
* Registration required (free)  

   Case Report
    Article Figures

 Article Access Statistics
    PDF Downloaded73    
    Comments [Add]    
    Cited by others 1    

Recommend this journal