LGCmain
Indian Journal of Pathology and Microbiology
Home About us Instructions Submission Subscribe Advertise Contact e-Alerts Ahead Of Print Login 
Users Online: 2134
Print this page  Email this page Bookmark this page Small font sizeDefault font sizeIncrease font size
IJPM is coming out with a Special issue on "Genitourinary & Gynecological pathology including Breast". Please submit your articles for these issues


 
  Table of Contents    
CASE REPORT  
Year : 2015  |  Volume : 58  |  Issue : 4  |  Page : 521-523
Primary alveolar rhabdomyosarcoma of fallopian tube masquerading as a unilateral adnexal mass: A case report and literature review


1 Department of Pathology, University of Arizona, Tucson, AZ, USA; Department of Pathology, Faculty of Medicine, The University of Jordan, Amman
2 Department of Obstetrics and Gynecology, University of Arizona, Tucson, AZ, USA; Department of Obstetrics and Gynecology, Al-Karak Governmental Hospital, Al Karak, Jordan
3 Department of Pathology, University of Arizona, Tucson, AZ; Department of Obstetrics and Gynecology, University of Arizona, Tucson, AZ; Arizona Cancer Center, University of Arizona, Tucson, AZ, USA

Click here for correspondence address and email

Date of Web Publication4-Nov-2015
 

   Abstract 

Rhabdomyosarcoma (RMS) is a high-grade sarcoma that predominantly affects children, and rarely, the adult population. RMS demonstrates three major histologic variants: Embryonal, alveolar, and pleomorphic. A limited number of documented pure RMS cases of the gynecologic organs in adult women are found in the literature. Of these reports, the fallopian tube (FT) is reported as the primary site in only three cases, those included one of embryonal and two of the pleomorphic histologic variants. Herein, we report the first case of alveolar RMS arising in the FT of an adult woman and presenting as a unilateral adnexal mass.

Keywords: Adnexal mass, alveolar rhabdomyosarcoma, fallopian tube

How to cite this article:
Shahin NA, Alqaisy A, Zheng W. Primary alveolar rhabdomyosarcoma of fallopian tube masquerading as a unilateral adnexal mass: A case report and literature review. Indian J Pathol Microbiol 2015;58:521-3

How to cite this URL:
Shahin NA, Alqaisy A, Zheng W. Primary alveolar rhabdomyosarcoma of fallopian tube masquerading as a unilateral adnexal mass: A case report and literature review. Indian J Pathol Microbiol [serial online] 2015 [cited 2019 Aug 25];58:521-3. Available from: http://www.ijpmonline.org/text.asp?2015/58/4/521/168884



   Introduction Top


Rhabdomyosarcoma (RMS) is a malignant mesenchymal neoplasm that mostly arises in childhood, with either morphologic or molecular evidence of primary skeletal muscle differentiation and has three recognized histologic variants: Embryonal, alveolar, and pleomorphic. The embryonal subtype is the most common and with the most favorable outcome. The pleomorphic and the alveolar variants are less frequent and more aggressive. Adult RMS is rare and usually has worse behavior and outcome compared to pediatric cases. RMS in adult females may be a component of a carcinomsarcoma or immature teratoma while pure cases are so unusual. Case series reveal the  Fallopian tube More Details (FT) as an extremely rare primary site.


   Case Report Top


We present a patient who at the time of initial presentation (in 2010) is a 25-year-old female complaining of abdominal distention and early satiety lasting for 1-week duration. Upon physical and ultrasound examination, a solid/cystic lesion involving the left adnexa is noticed. The patient subsequently underwent surgery and found to have an enlarged, sausage-shaped left FT. She consequently underwent unilateral salpingo-oophorectomy. An intraoperative frozen section pathologic consultation of the left FT showed a "poorly differentiated neoplasm," leading to more extensive surgery, including bilateral salpingo-oophorectomy, hysterectomy, omentectomy, and lymph node dissection. Subsequent morphologic and immunohistochemical studies proved its primary alveolar RMS of the FT with confirmation by molecular studies. No retroperitoneal, chest, or head and neck masses are identified upon imaging or during surgery, and the uterus, vagina, and cervix were free of disease. The patient promptly began weekly chemotherapy and adjuvant radiotherapy sessions. Unfortunately, the patient had succumbed to her disease with widespread metastases 1-year following her initial diagnosis.

Pathologic examination showed an enlarged left FT measuring 7.5 cm × 4.5 cm × 2.0 cm and weighing 36.5 g. The serosa is diffusely covered by fine excrescences. On cross section, the maximum diameter of the FT is 2.0 cm. Serial sectioning shows a patent tubal lumen circumscribed by a homogenously tan-white mass without necrosis or hemorrhage [Figure 1]a. The left ovary is of the normal size with no gross or surface abnormalities.
Figure 1: Rhabdomyosarcoma of the fallopian tube. The tube is swollen, and the fimbriae are bulging (asterisks), a 2 cm nodule is apparent in the paratubal tissue (arrow) (a). The tumor diffusely infiltrated the stroma and muscular wall under a benign looking epithelium (Hematoxylin and Eosin stain) (b). Alveolar growth pattern was detected in some areas (Hematoxylin and Eosin stain) (c). Diffuse immuno-reactivity to myogenin (d). Original magnifications ×100 and ×200

Click here to view


Microscopic examination of the left FT demonstrates a monotonous population of small to medium sized cells with open chromatin, prominent nucleoli, and scant to moderate amounts of cytoplasm diffusely infiltrating the FT stroma and muscular wall underneath a normal-appearing tubal epithelium [Figure 1]b. Mitotic figures and apoptotic bodies are abundant. The neoplasm shows a solid growth pattern but focally appeared to arrange in loose nests separated by delicate fibrous septae [Figure 1]c. The right FT which was unremarkable. Both ovaries omentum and bilateral periaortic and pelvic lymph nodes (6 positive out of 7 identified) are found to be microscopically involved by the same tumor without identified necrosis.

Based on these unusual pathological findings, our diagnosis was a "blue cell tumor;" including lymphoma/leukemia, soft tissue sarcoma, and neuroendocrine carcinoma, keeping in mind the potential of a poorly differentiated small cell carcinoma. Consequently, a panel of immunohistochemical stains is performed, interestingly; the neoplasm strongly expresses vimentin, desmin, myogenin, and CD56; with negativity for estrogen receptor, progesterone receptor, inhibin, placental alkaline phosphatase, human melanoma black-45, S-100, smooth muscle actin, CD99, epithelial membrane antigen, cytokeratins, or leukocyte common antigen (CD45). A diagnosis of RMS is rendered with the alveolar subtype favored morphologically. A paraffin embedded block is submitted for reverse transcription-polymerase chain reaction (RT-PCR) and gel electrophoresis studies that confirmed the tumor is positive for alveolar RMS PAX3-FOXO1A fusion transcripts.


   Discussion Top


The histopathological findings of the current case are very unusual and provoked a long list of differential diagnoses, including hematologic malignancies, sarcomas, and poorly differentiated carcinomas. It was the combination of morphology, immunohistochemical stains and molecular studies that confirmed the diagnosis of alveolar RMS of the FT. Immunophenotypically, the neoplastic cells showed strong and diffuse reactivity to skeletal muscle markers, including myogenin [Figure 1]d and desmin while there was no reaction to others including epithelial markers. These results helped us to exclude lymphoma/leukemias, carcinomas, leiomyosarcoma, melanoma, primitive neuroectodermal tumor, desmoplastic small cell tumor, germ cell tumors, and sex cord-stromal tumors as major potential diagnoses. The diagnosis was made as RMS of the FT, mostly of alveolar subtype.

The diagnosis was then confirmed by RT-PCR and gel electrophoresis studies detecting the presence of PAX3-FOXO1A fusion transcripts, the result of a unique reciprocal chromosomal translocation t (2;13)(q35;q14) which is typical of alveolar RMS, and lacking in other RMS variants; as well as other malignancies.[1],[2]

The most common tumors of the FT are epithelial carcinomas. Sarcomas, including RMS, are extremely rare.[3] RMSs may rarely occur in the FT as a component of a malignant mixed mullerian tumor (heterologous carcinosarcoma),[4] or as a heterologous component of a mullerian adenosarcoma, or an immature teratoma.[5] In our case, these possibilities had been excluded by the lack of any malignant epithelial components or heterologous tissue differentiation despite extensive microscopic examination. RMS arising from other organs is also excluded since no other masses are detected by imaging studies or during surgery. In the context of the wide differential diagnoses that come to mind, a comprehensive panel of immunohistochemical stains was essential to establish the unusual diagnosis of RMS. The molecular studies were utilized to confirm our diagnosis and to determine the accurate histologic subtype.

Although a common soft tissue tumor in children, RMS is much less common in adults (1%), and occur mostly in the extremities, then the genitourinary tract - in descending order of frequency - in the bladder, prostate, testis, vagina, uterus, and cervix.[6] Gynecological RMSs are very aggressive, with a reported disease-specific survival in the range of 20–40% of cases,[7] with the majority being of the embryonal subtype.

To our knowledge, RMS of the FT is extremely rare, and review of the literature reveals only 4 case reports of pure tubal RMS.[8],[9],[10],[11] The outcome of most cases was dismal. The clinicopathological features of these cases are summarized in [Table 1]. We believe our current case is pure tubal RMS, and the first reported case of the alveolar subtype in the FT.
Table 1: Summary of the previous reported cases (as cited in text) of tubal RMS in literature

Click here to view



   Conclusion Top


Although RMS is known to arise from the urogenital tract both in adults and pediatric populations, pure RMS arising in FT is so unusual. For the practicing pathologist, the differential diagnoses of solid adnexal masses should include small cell carcinoma, poorly differentiated carcinoma, lymphoma, carcinosarcoma, as well as sarcomas, especially in young women. Morphological features along with immunohistochemical stains, and if feasible, molecular studies are of paramount significance in challenging cases.

Acknowledgment

The authors would like to thank Carlos Cantu, MD from the Department of Pathology 1, University of Arizona, Tucson, AZ, USA, for his excellent macroscopic dissection and photographing the specimens.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

 
   References Top

1.
Galili N, Davis RJ, Fredericks WJ, Mukhopadhyay S, Rauscher FJ 3rd, Emanuel BS, et al. Fusion of a fork head domain gene to PAX3 in the solid tumour alveolar rhabdomyosarcoma. Nat Genet 1993;5:230-5.  Back to cited text no. 1
    
2.
Davis RJ, D'Cruz CM, Lovell MA, Biegel JA, Barr FG. Fusion of PAX7 to FKHR by the variant t(1;13)(p36;q14) translocation in alveolar rhabdomyosarcoma. Cancer Res 1994;54:2869-72.  Back to cited text no. 2
    
3.
Kurman RJ. Pathology of the Female Genital Tract. 4th ed. New York: Springer-Verlag; 2002.  Back to cited text no. 3
    
4.
Tokunaga T, Miyazaki K, Okamura H. Pathology of the fallopian tube. Curr Opin Obstet Gynecol 1991;3:574-9.  Back to cited text no. 4
    
5.
Sweet RL, Selinger HE, McKay DG. Malignant teratoma of the uterine tube. Obstet Gynecol 1975;45:553-6.  Back to cited text no. 5
[PUBMED]    
6.
Lloyd RV, Hajdu SI, Knapper WH. Embryonal rhabdomyosarcoma in adults. Cancer 1983;51:557-65.  Back to cited text no. 6
[PUBMED]    
7.
La Quaglia MP, Heller G, Ghavimi F, Casper ES, Vlamis V, Hajdu S, et al. The effect of age at diagnosis on outcome in rhabdomyosarcoma. Cancer 1994;73:109-17.  Back to cited text no. 7
    
8.
Buchwalter CL, Jenison EL, Fromm M, Mehta VT, Hart WR. Pure embryonal rhabdomyosarcoma of the fallopian tube. Gynecol Oncol 1997;67:95-101.  Back to cited text no. 8
    
9.
Ferguson SE, Gerald W, Barakat RR, Chi DS, Soslow RA. Clinicopathologic features of rhabdomyosarcoma of gynecologic origin in adults. Am J Surg Pathol 2007;31:382-9.  Back to cited text no. 9
    
10.
Fujiwaki R, Miura H, Endo A, Yoshino N, Iwanari O, Sawada K. Primary rhabdomyosarcoma with an epithelioid appearance of the fallopian tube: an adult case. Eur J Obstet Gynecol Reprod Biol 2008;140:289-90.  Back to cited text no. 10
[PUBMED]    
11.
Saha A, Chattopahadhyay S, Saha P, Azam M. Primary rhabdomyosarcoma of the fallopian tube. A very rare case. Clin Cancer Investig J 2013;2:350-2. Available from: http://www.ccij-online.org/text.asp?2013/2/4/350/121545. [Last cited on 2015 Jun 01].  Back to cited text no. 11
    

Top
Correspondence Address:
Dr. Nisreen Abu Shahin
Department of Pathology, Faculty of Medicine, University of Jordan Queen Rania Street, Al Jubaiha 11942, Amman, Jordan

Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0377-4929.168884

Rights and Permissions


    Figures

  [Figure 1]
 
 
    Tables

  [Table 1]



 

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


    Abstract
   Introduction
   Case Report
   Discussion
   Conclusion
    References
    Article Figures
    Article Tables

 Article Access Statistics
    Viewed1606    
    Printed20    
    Emailed0    
    PDF Downloaded76    
    Comments [Add]    

Recommend this journal