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Year : 2018  |  Volume : 14  |  Issue : 7  |  Page : 1665-1669

Clinical characteristics of Poland's syndrome associated with breast cancer: Two case reports and a literature review

Department of Breast Surgery, Affiliated 307 Hospital, Academy of Military Medical Sciences, Beijing 100071, China

Date of Web Publication19-Dec-2018

Correspondence Address:
Hanmin Pang
Department of Breast Surgery, Affiliated 307 Hospital, Academy of Military Medical Sciences, Beijing 100071
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jcrt.JCRT_814_17

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 > Abstract 

Poland's syndrome is a rare congenital malformation that is characterized by a congenital defect of the pectoralis major. It is associated with various ipsilateral upper extremity anomalies and homolateral breast hypoplasia. There have been reports of Poland's syndrome being associated with different malignancies. Here, we report two cases of Poland's syndrome associated with breast cancer (BC) and review the literature. To date, 21 cases (including our two cases) of Poland's syndrome associated with BC have been reported. The clinical characteristics of the disease are analyzed in this report.

Keywords: Breast cancer, congenital anomaly, Poland's syndrome

How to cite this article:
Huang Y, Pang H, Jin S, Han X, Liu X, Yang L, Zuo S, Li J, Meng D. Clinical characteristics of Poland's syndrome associated with breast cancer: Two case reports and a literature review. J Can Res Ther 2018;14:1665-9

How to cite this URL:
Huang Y, Pang H, Jin S, Han X, Liu X, Yang L, Zuo S, Li J, Meng D. Clinical characteristics of Poland's syndrome associated with breast cancer: Two case reports and a literature review. J Can Res Ther [serial online] 2018 [cited 2022 Aug 12];14:1665-9. Available from: https://www.cancerjournal.net/text.asp?2018/14/7/1665/247730

 > Introduction Top

Poland's syndrome is characterized by the absence of the pectoralis major and minor muscles, hypoplasia or complete absence of the breast, costal cartilage and rib defects, and hypoplasia of subcutaneous chest wall tissue. Hypoplasia of the sternocostal portion of the pectoralis is the most significant feature, and it is most frequently associated with homolateral breast hypoplasia. The condition was mentioned for the first time by Lallemand in 1826, but it was Alfred Poland, a medical student and anatomist, who provided a precise description of the condition in 1841.[1] His report stated that the pectoralis major and pectoralis minor muscles were less developed or completely absent and that the upper extremity was malformed. It was not until 1962 that Clarkson, a plastic surgeon, confirmed these anatomic malformations during an operation and named them Poland's syndrome.[2] Reports of the anatomic diversity of the disease were later added as additional components of the syndrome. Poland's syndrome can be classified as mild, moderate, and severe, depending on the physical findings of patients.[3] Other components of Poland's syndrome include ipsilateral syndactyly and monodactyly, dextrorotation of the heart, lung hypoplasia, and lung herniation as well as vertebral and subclavian vein (and its tributaries) abnormalities.[4],[5] These deformities are sporadic in nature; it is rare that all features manifest in one individual. The estimated incidence of this syndrome varies from 1 in 20,000–1 in 50,000 new births. The male-to-female ratio of this syndrome is 3–1, and 75% of the deformities are found on the right side. There have been reports of Poland's syndrome being associated with malignancies such as breast cancer, leukemia, malignant lymphoma, and leiomyosarcoma.

 > Case Reports Top

Case 1

A 74-year-old female was admitted to our hospital with a painless mass and bloody nipple discharge in the left breast. The physical examination showed that the patient had thoracic skeleton asymmetry and that her left shoulder was higher than her right shoulder. Her breasts were asymmetrical, with hypoplasia of the left breast, and the ipsilateral nipple was retracted. There was no skin ulceration, but edema was present, and a 6.0 cm × 5.0 cm × 4.0 cm mass that was hard, irregular, and inflexible was evident in the upper outer quadrant of the left breast [Figure 1]. No lymphadenopathy was detected in the axillary or supraclavicular regions. Homolateral upper extremity anomalies were another important sign [Figure 2]. There was no family history of Poland's syndrome; however, one of her sisters had died of breast cancer. Chest X-rays showed scoliosis [Figure 3], a congenital malformation of the left upper limb. Ultrasonography revealed a solid, hypoechoic lesion measuring 6.3 cm × 6.1 cm × 4.0 cm in the upper outer quadrant of the left breast. Two or three abnormal augmented lymph nodes in the left axillary fossa also manifested hypoecho, and the largest was 1.3 cm × 0.8 cm. Ultrasonography also showed the absence of left pectoralis muscles [Figure 4]a and [Figure 4]b. Other related examinations were normal.
Figure 1: Hypoplasia of the left breast and a tumor in the left breast

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Figure 2: Homolateral upper extremity anomalies

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Figure 3: Chest X-rays revealed scoliosis

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Figure 4: (a) Ultrasonography revealed a solid, hypoechoic lesion, and absence of the left pectoralis muscles (arrow); (b) normal right pectoralis muscles

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A frozen section pathological examination of the tumor was performed during the operation, and the results revealed breast invasive ductal carcinoma. Then, a modified radical mastectomy was performed. During surgery, the complete absence of the pectoralis major and minor was noted [Figure 5]. The pathological specimen confirmed complicated invasive ductal carcinoma of the breast, with no metastasis to the left axillary lymph nodes (0 of 17). Immunohistochemical staining of the tumor cells were positive for estrogen receptor expression (more than 75%), positive for progesterone receptor expression (10%–25%), and negative for HER-2 (0). The patient underwent an uneventful postoperative course. Her successive therapy was scheduled: aromatase inhibitors, exemestane 25 mg/day for 5 years. She is currently alive and disease-free after 3 postoperative years.
Figure 5: Absence of the pectoralis major and minor

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Case 2

In September 2015, a 60-year-old female consulted with our institution, complaining of a left breast mass. She had had gastric cancer 5 years prior. There was no family history of breast cancer (BC) or Poland's syndrome. The physical examination revealed that the left breast was hypoplastic and highlighted the presence of a firm mass, 4.0 cm × 3.0 cm × 2.0 cm, in the under outer quadrant of the left breast. Her left breast was smaller than the right. There were no palpable axillary lymph nodes. No deformities of the upper extremities were observed. Ultrasonography showed a solid, hypoechoic lesion measuring 2.5 cm × 2.3 cm × 2.0 cm in the left breast [Figure 6]. Chest computed tomography also disclosed an irregular mass with invasive skin in the left breast and defects of the homolateral pectoralis muscles [Figure 7]a and [Figure 7]b. No other abnormalities were found in the thoracic bones and ribs. Preoperative magnetic resonance imaging (MRI) showed that her breasts were asymmetrical, with hypoplasia of the left breast, complete absence of the pectoralis muscles, and a lesion measuring approximately 4.79 cm × 4.73 cm × 3.23 cm, with a breast imaging data and reporting system (BI-RADS) score of 5 [Figure 8]. A US-guided core needle biopsy (CNB) of the left breast tumor demonstrated a poorly differentiated invasive ductal carcinoma, and a CNB of the lymph node in the left axillary region was negative. A sentinel lymph node biopsy was also negative (0/2). Immunohistochemical staining showed negative results for estrogen and progesterone receptors, Her-2 (2+), Ki-67 (index approximately 20%), and fish (+).
Figure 6: Ultrasonography showed a solid hypoechoic lesion

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Figure 7: (a) Computed tomography demonstrated a complete defect of the pectoralis muscles (arrow); (b) an irregular mass in the left breast

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Figure 8: Magnetic resonance imaging showed breasts asymmetrical, hypoplasia of the left breast and a lesion in it, a complete absence of the pectoralis muscles (arrow)

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On October 9, 2015, a mastectomy was performed. The surgical findings noted the complete absence of the pectoralis major and minor. The pathological specimen confirmed complicated invasive ductal carcinoma of the breast, with metastasis to the lymph nodes of the left breast around the fat tissue (0 of 10). Immunohistochemical staining of the tumor cells was negative for estrogen and progesterone receptor expression and positive for HER-2 expression (2+), Ki-67 (index approximately 20%), and FISH (+). She did not receive adjuvant chemotherapy because of severe cirrhosis of the liver. After 2 years of follow-up, she did not relapse.

Features of 21 Poland's syndrome patients with breast cancer

In this report, we reviewed the literature describing 21 cases (including our two cases) of Poland's syndrome associated with BC that has been reported to date and investigated the clinical characteristics in all 21 cases [Table 1]. The following clinical characteristics were observed.
Table 1: The characteristics of the reviewed 21 Cases of Breast Cancer with Poland's Syndrome

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  1. The patient ages ranged from 33 to 74 years (average 50.7 years)
  2. All 21 patients (100%) had hypoplasia or absence of the pectoralis major and minor muscles. Eight patients (38.0%) had ipsilateral hand and/or upper extremity anomalies, and 5 patients (23.8%) had congenital anomalies of the chest wall (including scoliosis). Sixteen patients (76.2%) had mammary hypoplasia, but five patients (23.8%) had normal breasts
  3. There were 19 cases (90.5%) of ipsilateral BC and 2 cases (9.5%) of contralateral breast cancer.

 > Discussion Top

In general, the association between Poland's syndrome and malignancy seems to be likely based on numerous reports. While it is important to speculate on a possible etiologic relationship between developmental malformations and malignancy, a definitive association has not been established at this time. There have been a number of reports of various malignancies in patients with Poland's syndrome including leukemia, lymphoma, leiomyosarcoma, lung carcinoma, gastric carcinoma, and head and neck tumors.[6],[7],[8],[9],[10],[11],[12] However, most cases involved female patients who had BC with Poland's syndrome;[13],[14],[15],[16],[17],[18],[19],[20],[21],[22],[23],[24],[25],[26],[27],[28],[29],[30] they ranged in age from 33 to 74 years (including the patients in this report). Moreover, our first case was the oldest patient. Our second case represents the first documentation of two kinds of carcinoma (gastric and breast) associated with Poland's syndrome. Among these 21 cases (including those in this report), 19 patients had ipsilateral BC on the side with the mammary hypoplasia, and only two patients had contralateral BC associated with Poland's syndrome.[17],[25] We speculated that these events could contribute to the pathogenesis of this malignancy. To determine the mechanism of the relationship between these diseases, further study required. Therefore, all patients with Poland's syndrome should be carefully monitored for early detection of cancer, and despite the mammary hypoplasia, this monitoring should include carcinoma of the breast.

Because it is a rare congenital malformation, Poland's syndrome is not easily recognized. During surgery, the pectoralis major and pectoralis minor muscles demonstrated hypogenesis, which indicates a definitive diagnosis for those patients without any typical clinical manifestations (e.g., hand and upper limb deformities). Therefore, surgeons should note any anomalies of the chest skeleton and/or pectoralis muscles when a patient with mammary asymmetry or unilateral hypoplasia is treated. Poland's syndrome is often simply diagnosed simply through a clinical examination if a patient has typical clinical manifestations such as hand and upper limb deformities or hypoplasia of the breast. However, some patients may have a combination of hypoplasia and/or subcutaneous tissue, hypoplasia or the absence of the costosternal portion of the pectoralis major and/or minor muscle, serratus anterior or external oblique; the absence of costal cartilage in ribs 2–5 must be diagnosed through ultrasonography, digital mammography, computed tomography, or nuclear MRI. It is essential to perform a CNB or fine-needle aspiration cytology correctly to obtain a representative histological or cytological sample from breast masses and to make a pathological diagnosis. In addition, there is a lack of fat tissue on the chest wall, and the pectoralis major and minor muscles are usually absent, which cause thinness of the involved chest. Therefore, when a breast tumor is excised from a patient with Poland's syndrome, traumatic procedures should be carefully performed to avoid damaging the thoracic organs and axillary vein. Furthermore, the subsequent use of radiotherapy in these patients carries a higher risk of heart and lung complications due to the decreased protection by chest wall muscles. Electron-beam radiotherapy of the chest wall with lymph node irradiation using the presented technique seems to be well adapted and safe for this rare patient population.[20]

Note that hypoplasia does not exempt breast tissue from breast carcinoma development. Katz reported a 42-year-old female who underwent left breast reconstruction because of hypoplasia, but an ipsilateral breast mass was found 2 years later. Ultrasound showed a solid and hypoechoic mass anterior to the saline implant, and the final diagnosis of BC was confirmed by pathology.[18] Women with Poland's syndrome have a greater risk of BC than do women in the general population. Therefore, they must understand the need for self-examination of the hypoplastic breast. When a patient with Poland's syndrome presents for treatment, bilateral ultrasonography and mammography or MRI may be useful in evaluating suspicious lesions. Systemic therapy should be used for patients with Poland's syndrome associated with breast cancer. Due to the existence of chest wall deformities, surgeons should pay special attention to these patients.

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

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Clarkson P. Poland's syndactyly. Guys Hosp Rep 1962;111:335-46.  Back to cited text no. 2
Namnoum JD. Breast reconstruction in patients with Poland's syndrome. In: Spear SL, editor. Surgery of the Breast. Principles and Art. 2nd ed. Philadelphia: Lippincott Williams and Wilkins; 2006. p. 1383-94.  Back to cited text no. 3
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Fukushima T, Otake T, Yashima R, Nihei M, Takeuchi S, Kimijima II, et al. Breast cancer in two patients with Poland's syndrome. Breast Cancer 1999;6:127-30.  Back to cited text no. 13
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Okamo H, Miura K, Yamane T, Fujii H, Matsumoto Y. Invasive ductal carcinoma of the breast associated with Poland's syndrome: Report of a case. Surg Today 2002;32:257-60.  Back to cited text no. 17
Katz SC, Hazen A, Colen SR, Roses DF. Poland's syndrome and carcinoma of the breast: A case report. Breast J 2001;7:56-9.  Back to cited text no. 18
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  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8]

  [Table 1]

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