|Year : 2017 | Volume
| Issue : 2 | Page : 204-207
Breast dermatofibrosarcoma protuberans in an adolescent male: A case report and extensive review of the literature
IF Ezejiofor1, ME Onwukamuche1, D. C. D. Anyiam1, JO Ugwu2, CO Ndukwe1, KC Madubuike1, FE Menkiti1, CC Ogbu1, NS Ozor1
1 Department of Histopathology, Nnamdi Azikiwe University Teaching Hospital, Nnewi, Anambra State, Nigeria
2 Department of Surgery, Paediatric Surgery Unit, Nnamdi Azikiwe University Teaching Hospital, Nnewi, Anambra State, Nigeria
|Date of Web Publication||14-Nov-2017|
I F Ezejiofor
Department of Histopathology, Nnamdi Azikiwe University Teaching Hospital, Nnewi, Anambra State
Dermatofibrosarcoma protuberans (DFSP) is a nodular cutaneous tumor with high recurrence rate characterized by a prominent storiform pattern. DFSP of the breast is extremely rare and even rarer is DFSP of the male breast. The aim of this article is to present a case report of right breast DFSP (T1N0M0 Stage 1B) in a 13-year-old male. The diagnosis of this case report was based on clinical examination, histology of core, and excisional biopsies as well as immunohistochemistry.
Keywords: Adolescent male, breast dermatofibrosarcoma protuberans, literature review, trauma
|How to cite this article:|
Ezejiofor I F, Onwukamuche M E, Anyiam D, Ugwu J O, Ndukwe C O, Madubuike K C, Menkiti F E, Ogbu C C, Ozor N S. Breast dermatofibrosarcoma protuberans in an adolescent male: A case report and extensive review of the literature. Trop J Med Res 2017;20:204-7
|How to cite this URL:|
Ezejiofor I F, Onwukamuche M E, Anyiam D, Ugwu J O, Ndukwe C O, Madubuike K C, Menkiti F E, Ogbu C C, Ozor N S. Breast dermatofibrosarcoma protuberans in an adolescent male: A case report and extensive review of the literature. Trop J Med Res [serial online] 2017 [cited 2019 Aug 22];20:204-7. Available from: http://www.tjmrjournal.org/text.asp?2017/20/2/204/218219
| Introduction|| |
Taylor first identified dermatofibrosarcoma protuberans (DFSP) in 1890 as a sarcoma resembling a keloid. In 1924, Ferrand recognizes it as a unique entity and described it as a progressive recurrent dermatofibroma and was later termed DFSP by Hoffman in 1925. This rare tumor usually presents during early or middle adult life as erythematous indurated firm subcutaneous nodules. It is a slow growing, nodular, polyploidy neoplasm that invades the subcutaneous tissue and rarely metastasizes. DFSP is predominant in the trunk, rare in the breast, and even extremely rare in male breast.
| Case Report|| |
A 13-year-old Nigerian male of Hausa tribe presented to the surgical outpatient department with a 2-year history of painless right breast swelling following a fall. The lesion was noticed as a nodule in the upper outer quadrant, which gradually increased in size extending to the inner upper quadrant and central areas sparing the nipple [Figure 1]. There were alternating areas of hyper- and hypo-pigmentation of the overlying skin. His physical examination revealed a healthy adolescent with body mass index of 17.62 kg/m2. His vital signs showed pulse rate of 72 beat/min and respiratory rate of 24 cycles/min. Breast examination revealed a multinodular irregular mass of 12 cm × 10 cm, firm in consistency, and attached to skin but not to the underlying structures. The mass was not tender and there was neither differential warmth nor lymphadenopathy.
|Figure 1: Clinical examination showing a firm, multinodular, irregular mass in the upper outer quadrant, extending to the inner upper quadrant, and central areas sparing the nipple|
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Ultrasound examination of abdomen and chest X-ray revealed no abnormalities. Other investigations revealed pack cell volume of 38.08%, white blood cell of 4.1 × 103/L, and AS genotype. Electrolyte/urea/creatinine were within normal ranges. He underwent excisional biopsy of the right breast. Tumor was removed and submitted to the histopathology department for further analysis and diagnosis. The patient was discharged on satisfactory condition 13th day postsurgery but was lost in follow-up.
Gross examination [Figure 2] showed an excisional biopsy specimen, which comprises skin and subcutaneous tissue with firm, multiple nodular grayish-white masses of variable sizes below the skin, altogether measured 11.2 cm × 9.0 cm × 4 cm and weighed 120 g. The largest mass measured 2.5 cm × 2.5 cm × 1 cm, whereas the smallest measured 1.8 cm × 1 cm × 0.5 cm. Serial cut sections revealed tumors of circumscribed nodular, yellowish-white tissues with fibrous wall. Microscopy showed poorly circumscribed intermediate-grade, malignant, mesenchymal neoplasm composed of proliferating plump spindle cells with low mitotic activity disposed largely in storiform pattern. There were few foci of myxoid stroma [Figure 3]b and localized areas showing trapped adipocytes; however, the overlying skin appeared thinned out, whereas the resection margins showed tumor involvement. Overall features were those of incompletely resected DFSP.
|Figure 3: (a) Photomicrograph shows a proliferation of a uniform population of fibroblasts arranged in a distinct storiform pattern around vascular channels. (b) Photomicrograph shows myxoid change|
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| Discussion|| |
DFSP is a highly recurrent, infiltrating intermediate-grade, malignant, soft-tissue sarcoma, which originates from the dermis of the skin and historically from fibroblast, histiocyte, or neuroectoderm. DFSP has capacity to differentiate into all these cells suggesting undifferentiated mesenchymal cells to be their origin. More than 90% of DFSP exhibit either ring chromosome or an unbalanced chromosomal translocation between chromosomes 17 (COL1A1) and 22 (platelet-derived growth factor B) with response to tyrosine-kinase inhibitor (imatinib). The prevalence of DFSP is roughly 0.01% of all malignant tumors and approximately 2%–6% of all malignant soft-tissue sarcoma. Primary sarcomas of the breast are extremely rare, <0.1% of all malignant tumors of the breast, whereas the dermatofibrosarcoma of the breast is even rare. DFSP affects male more frequently than female although some authors report higher rate in female than male.,
The estimated incidence of DFSP is 0.8–5 cases per 1 million persons/year, which are roughly 1000 new cases/year in America. The incidence among negro (6.5/million) almost double that among Caucasian (3.9/million). Valdivielso-Ramos et al. reported that the average annual incidence of DFSP in the pediatric population corresponded to 1.02 cases/million persons/year.
DFSP commonly affects patients between 20 and 50 years of age but can sometimes be seen in both children and elderly. Congenital DFSP is a recognized entity but is extremely uncommon. DFSP occurs at almost any site, but the predominant sites are trunk (47%) followed by lower extremities (20%), proximal extremities (18%), and finally head and neck (14%).
In Maiduguri, North-eastern Nigeria, Nggada et al. reported 36 cases of DFSP with a median age of 37 years, and 48.8% of the tumors present in the trunk, none in the breast, with male to female ratio of 2:1. In University of Benin Teaching Hospital, Benin City, Nigeria, Osime et al. reported one case of DFSP of the left breast in an older male of 32-year-old. In India, Jawaharlal Nehru Medical College, Kafil et al. also reported a case of DFSP of the left breast in a 22-year-old male,whereas in Doha, Qatar, Al Tarakji et al. reported a case of breast DFSP in yet another adult male of 27-year-old. After extensive research in literature, this index case in a 13-year-old will be the youngest reported age of male breast DFSP.
The etiology of this tumor is not well known, but antecedent trauma is an associated predisposing factor in the development of this malignancy. This association with trauma is also documented in the index case. This is also supported by Bukhari et al. who reported a case of DFSP at an unusual site in a 9-year-old child at previous central venous line insertion in the left supraclavicular area.
The hallmark of diagnosis is histology and immunohistochemistry. Histological section of DFSP shows uniform population of slender fibroblast arranged in a distinct monotonous storiform pattern [Figure 3]a around inconspicuous vasculature and interdigitate with lobules of subcutaneous fat creating honeycomb effect. Immunohistochemically, DFSP has diffuse and extensive positivity for CD34 but negative for S-100, CD44, factor XIIIa, and cytokeratins. In addition, staining for hyaluronate and vimentin is expected to be positive in DFSP.,
In the index case, the tumor showed strong positivity to CD34 [Figure 4] but negative stains to S-100, pan cytokeratin, and CD117. Some mimics of DFSP include phyllodes, dermatofibroma, fibrosarcoma, neurofibroma, benign fibrous histiocytoma, cellular fibroadenoma, nodular fascitis, and inflammatory myofibroblastic tumor. Benign fibrous histiocytoma, dermatofibroma, and phyllodes show focal/patchy stain in occasional cases with CD34, whereas fibrosarcoma display negative stain with CD34. The histology of the tumor and S-100 negativity ruled out neurofibroma.
|Figure 4: Photomicrograph of dermatofibrosarcoma protuberans showing strong positivity with CD34 stain|
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The mainstay of treatment of DFSP is Mohs microscopic controlled surgery which has no recurrence at 5 years or wide margin excision surgery (3–5 cm) which has a recurrence rate of 13% in combination with chemotherapy (imatinib) with or without radiotherapy., The index case had simple tumor excision and was meant to start chemotherapy but was lost in follow-up. DFSP has excellent prognosis except in metastatic tumor but with aid of imatinib these cases show better outcome.
| Conclusion|| |
We have reported an extremely rare case of DFSP of the right breast in a 13-year-old male with antecedent trauma associated. This report has highlighted the rare anatomical location in an adolescent male, the risk factor, and extensive review of literature on the patient.
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.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4]