Neurofibromas are benign nerve sheath tumors that are extremely rare in the breast. We report a massive disfiguring neurofibroma of the female breast. It exemplifies a disease presenting late in its natural history, typical of patients seeking medical care in low resource countries.Key words: Neurofibroma, Breast, Presentatio

Gemer, M

Kajombo, C

Roy, I

English

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ISSN 2073-9990   East Cent. Afr. J. surg152 COSECSA/ASEA Publication -East and Central African Journal of Surgery.  July/August; 2013 Volume 18 (2)Massive Neurofibroma of the Breast: Late Presentation in a Low Resource NationC. Kajombo1, I. Roy2, M. Gemer11Department of Surgery, Kamuzu Central Hospital, Lilongwe, Malawi2St. Mary’s Hospital, Montreal, Quebec, Canada and associate professor, Faculty of Medicine, McGillUniversityCorrespondence to: Mordechai Gemer, MD, PhD, Email: mgemer@aol.comNeurofibromas are benign nerve sheath tumors that are extremely rare in the breast. We report amassive disfiguring neurofibroma of the female breast. It exemplifies a disease presenting late in itsnatural history, typical of patients seeking medical care in low resource countries.Key words: Neurofibroma, Breast, PresentationIntroductionNeurofibromas are uncommon benign tumors of nonmyelating Schwan cell origin that arise in theperipheral nervous system. The vast majority occurs in the skin and is extremely rare in breast tissue.Neurofibromas usually occur in patients with neurofibromatosis (NF), although they can occursporadically. Neurofibromatosis is genetically inherited autosomal dominant disorder and occursacross all ethnic groups. It presents in two types: Neurofibromatosis type 1 (NF 1) andneufibreomatosis type 2 (NF 2).Neurofibromatosis type 1 ( von Recklinghausen Syndrome- 1882) is the most common form of NF,accounting for up to 90% of the cases. It is associated with the peripheral nervous system. Patientsusually develop multiple subcutaneous tumors and changes in skin pigmentation. (cafe-au-lait spots).It has a frequency of 1 in 4,000 people. NF 2, which originates from a different chromosome isconnected with the central nervous system, less associated with benign tumors and can cause spineand brain tumors. It has a frequency of 1 in 40,000 people. Breast neurofibromas are usuallyassociated with NF 1Neurofibromas of the breast are classified in two types; dermal and plexiform. Dermal neurofibromasare associated with a single peripheral nerve, while plexiform neurofibromas are associated withmultiple nerve bundles1. The clinical manifestations of both types are similar, nodules on or under theskin, and can cause itching, pain and possible disfiguration if left untreated. Dermal breastneurofibromas usually do not lead to subsequent malignant transformation, but, about 10% ofplexiform breast neurofibromas may transform into a malignant peripheral nerve sheath tumor1.We present a case report of a patient with NF1 who developed massive, disfiguring but benignneurofibroma of the breast.Case ReportThe patient who is 27 years old female from a small village in Malawi, Africa, presented with anenlarged left breast and multiple scattered skin nodules. She claimed that the left breast was slightlyenlarged at adolescence but within few years progressively got bigger to current size especially afterthe birth of her last child 4 years earlier. The breast was not painful and there was no history of nippledischarge. The patient also stated that since her birth, she also had nodules on her entire body butmostly on the back. The nodules were not painful but slowly got bigger. She is the only one in herfamily with this disorder.ISSN 2073-9990   East Cent. Afr. J. surg153 COSECSA/ASEA Publication -East and Central African Journal of Surgery.  July/August; 2013 Volume 18 (2)On examination, the left breast was extremely stretched reaching her knees while standing and thepatient placed the breast on her lap when she was sitting (Figures1 and 2). There was a mass in thedistal end of the breast measuring 25x15x10 cm, which was firm and non-tender. Large skinulcerations were present around the areola. The right breast was normal. Multiple hyperpigmentedskin nodules were noted over her body especially the back. She also had masses in her right hand andon the plantar surface of the left foot, soft in consistency and measuring 5x5 cm each.After adequate preparation, the patient was taken to the operating room. Under general anesthesiaexcision of part of the stretched breast with the mass was done. The specimen weighed 7kg. The post-operative course was without any complication, the patient was discharged with sutures to be removedat the outpatient clinic (Figure 3). Macroscopically the submitted specimen showed white rubberytissue diffusely distributed in dermal and subcutaneous locations. Microscopic examination showedbenign spindle cell proliferation with loose background and mast cells, consisted with diffuseneurofibroma (Figure 4). Immunohistochemistry for S-100 demonstrated only patchy positivity.Figure 1 Figure 2Figure 3 \Figure 4DiscussionNeurofibromas of the breast are rare. So far we found in the literature, that beside our case, 15females2,3,4,5,6,7,8,9 and 5 males 6,10,11,12with breast neufibromas were previously reported. The lesionsare more commonly solitary than multiple. Macroscopically, neurofibromas appear wellcircumscribed and if still confined by the epineurium are encapsulated. Most, however, are notencapsulated just as our patient's tumor was not. They vary in size and shape. Typically they areISSN 2073-9990   East Cent. Afr. J. surg154 COSECSA/ASEA Publication -East and Central African Journal of Surgery.  July/August; 2013 Volume 18 (2)white-gray tumors as in the current case, but some are brown. They may be polypoid or fusiform inshape.Histologically neurofibromas contain interlacing bundles of elongated cells with wavy, dark stainingnuclei and slender cytoplasmic processes. These cells are arranged loosely and are typically associatedwith mast cells. Neurofibromas lack epithelial elements. Most are immunoreactive for S-100 protein9,typically in some but not all of their component spindle cells. They keep a benign behavior and do notdemonstrate a significant mitotic activity.On mammography, small neurofibromas can appear as well-defined benign masses. They areclassically peri-areolar in location. Portions of the outline may be rimmed by air density reflectingtheir superficial nature, giving a halo. These multiple superficial lesions can mimic and partiallyobscure deeper breast lesions. On ultrasound they appear as hypoechoic lesions with circumscribedmargins with posterior acoustic enhancement resembling a cyst which may result in misdiagnosis1,9.MRI examinations could be of help5. Due to lack of resources we were unable to do imaging studies.The primary pathological differential diagnosis for this spindle cell proliferation is neurilemmoma andperineurioma, although malignant phylloides tumor, malignant peripheral nerve sheath tumor andmyofibroblastoma could all be considered. The benign histological as well as the characteristicimmunohistological features in our patient, however, are typical for a neurofibroma, especially in thecontext of the clinical diagnosis of NF1.The literature3 states that most breast neurofibromas are small but may range up to 8x6 cm in sizeexcept one case in which the neurofibroma of the pectoral region including the breast, reached the sizeof 25x15x5 cm, and a weight of 2.2 kg. It was confined to the chest wall7. In our patient theneurofibroma was 25x15x10 cm, weighed 7kg and reached the knees by stretching the breast tissue.We believe that this is the only reported case of breast neurofibroma of this striking magnitude. Ourpatient also illustrates a major drawback of some health systems in developing countries. It is a typicalcase of late presentation of patients seeking medical assistance.Treatment of neurofibromas is by surgical excision. Breast neurofibromas in general are associatedwith a low local recurrence rate if completely excised. In our patient cosmesis was difficult to achievedue to the massive size of the tumor, ulceration of the areola and loss of the nipple. Excision of thestretched breast and the mass was done through a semi circular incision. This equalized the size ofboth breasts.. The patient is scheduled for follow up.In summary, we described an exceptionally massive but benign breast neurofibroma in a patient withneufibromatosis type 1, an example of the advanced natural history of diseases seen in low resourcenations lacking adequate medical care.References1. Halls SB. Breast neurofibroma. http://www.breast-cancer.ca/type/breast-neurofibroma.htmAugust 20112. Narayan AS, Rao KP. Neurofibroma of the breast. J Indian Med Assoc. 1968; 50(8):375–63. Sherman JE, Smith JW. Neurofibromas of the breast and nipple areolar area. Ann Plast Surg1981; 7:302–7.4. Fink D, Schneider C, Wight E, Perucchini D, Haller U. Neurofibromatosis of the breast in apatient with morbus von Recklinghausen. Gynakol Geburtshilfliche Rundsch 2000; 40:47–95. Gokalp G, Hakyemez B, Kizilkaya E, Bursa G. Myxoid neurofibromas of the breast:mammographical, sonographical and MRI appearances. Br J Radiol 2007; 80:e234-e76. Bongiorno MR, Doukaki S, Arico M. Neurofibromatosis of the nipple-areolar area: a caseseries. Journal of medical case report. 2010; 4:22ISSN 2073-9990   East Cent. Afr. J. surg155 COSECSA/ASEA Publication -East and Central African Journal of Surgery.  July/August; 2013 Volume 18 (2)7. Laky D, Petrau DM, Ancăr V, Kelemen J. Giant neurofibroma of the pectoral region includingthe breast. Case report. Rom J Morphol Embryol .1990; 36(3-4):213-58. Millman SL, Mercado CL. An unusual presentation of neurofibromatosis of the breast. Breast J2004; 10:45–7.9. Thompson S, Kaplan SS, Poppiti Jr. RJ, Collado-Mesa F, Rabinovich K. Solitary neurofibromaof the breast. Radiology case reports 2012; 7: No 410. Murat A, Kansiz F, Kabakus N, Kazez A, Ozercan R. Neurofibroma of the breast in a boywith neurofibromatosis type 1. Clin Imaging 2004; 28:415–7.11. Jeyaretna D, Oriolowo A, Smith MFF, Watkins RM. Solitary neurofibroma in the   malebreast. World journal of surgical oncology 2007; 5:2312. Hock YL, Mohamid W. Myxoid neurofibroma of the male breast: fine needle aspiration.Cytopathology 1995; 6(1):44-7

Massive Neurofibroma of the Breast: Late Presentation in a Low Resource Nation

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Massive Neurofibroma of the Breast: Late Presentation in a Low Resource Nation

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