Occasionally a woman will present with lymph node metastases in the axilla or supraclavicular nodes which on biopsy shows adenocarcinoma, but nothing can be found in the breast, even on mammogram. The NCCN has guidelines for evaluating these patients. If the nodes are only in the axilla it is typical to treat the patient like stage II breast cancer.  If the nodes are more advanced (including the supraclavicular nodes) it is common to start with chemotherapy and then proceed with surgery followed by radiation

For most of  these women, they should have a level I/II axillary node dissection and based on MRI findings consider either a mastectomy or whole breast radiation.

Literature review: MRI being positive in for breast cancer in  64- 100%. Series of 234 had mastectomy and cancer was found in 65%. Local Control with breast radiation alone = 73, 83, 75, 92, 100 and 100% and 5 year survival was 75-100%. Local breast relapse with no therapy in 78 cases was 44%. Overall survival in large series was  60- 93%

Some of the literature concerning treatment is noted below

series from the literature showing the percent of patients alive at 5 years

study showing better survival if the breast is treated (radiation or mastectomy) than if only the nodes are treated

Occult breast carcinoma was first documented by Halsted in 1907 . Despite modern mammography and ultrasound, occult breast carcinoma still remains a diagnostic and management problem. Occult breast carcinoma presenting as axillary metastases is a rare presentation, in most series being 0.3 to 1% of breast cancers. The only data regarding management of occult breast carcinoma are from small retrospective series that often extend over many years with variable investigations and management. Management of occult breast cancer, as for all breast cancer, can be divided into management of the breast, of the regional nodes, and systemic management.

The breast has been managed variously by observation, upper outer quadrantectomy, radiotherapy to the breast, and mastectomy. Regional nodes can be treated by surgical dissection or radiotherapy. More recently it has been usual to add adjuvant systemic treatment as for node-positive breast cancer with chemotherapy, endocrine therapy, or both according to age, menopausal status, and receptor status.

Observation of the breast has been suggested by Van Ooijen , with treatment of the primary breast cancer being undertaken only if it became clinically evident. Only 2 primaries in 14 cases presented after a median follow-up of 7.5 years. On the other hand, Jackson found that 7 of 8 patients who were observed developed recurrence at a mean of 15 months (range 6–39 months). Another larger series of 40 mammographically negative breast cancers found an unacceptable 57% 5-year risk for appearance of the primary cancer in the nontreated breast.

Radiotherapy to the breast has been advocated by some with good results  with local control in the breast ranging from 72% (8 of 11 patients) (8) to 100% (20 of 20 patients). It is likely that the addition of chemotherapy will further increase local control as seen when clinically detectable cancers are treated by lumpectomy and radiotherapy with the addition of chemotherapy . Similarly if radiotherapy with the addition of chemotherapy can control over 85% of locally advanced tumors (< 10 cm) it is likely that these two modalities could control an occult primary. Mastectomy also remains an option depending on patient preference.

Review:  Women with axillary lymph node metastases — Breast cancer should be suspected in women who have AUP and axillary lymphadenopathy. Measurement of ER and PgR must be performed on the initial lymph node biopsy in such patients. Mammography may provide useful information, but is often misleading. Negative mammograms have been found in patients with breast cancer, and abnormal mammograms have been found in patients without breast cancer.

Occult breast cancer presenting with axillary metastases. Updated management.

Baron PL, Arch Surg. 1990 Feb; 125(2): 210-4.

Department of Surgery, Memorial Sloan-Kettering Cancer Center, New York, NY.

An isolated axillary lymph node metastasis in a woman without an obvious clinical primary site most frequently originates from the breast. Mastectomy has been the historical treatment of choice. A retrospective study of 35 patients was undertaken to evaluate the roles of modern mammography, breast preservation, and adjuvant systemic therapy in the management of these patients. Twenty-eight patients underwent a mastectomy, while 7 were managed by a combination of limited resection and/or axillary dissection and radiation therapy. Twenty-two (67%) of the 33 breast specimens contained carcinoma. Comparison of the pathologic results with the preoperative mammograms showed a specificity of 73%, while the sensitivity was only 29%. Actuarial 5-year survival after mastectomy or breast preservation was similar (77% and 65%, respectively). Patients with more than one positive lymph node benefited from adjuvant therapy. Mammography does not locate the majority of occult stage II breast cancers, and both breast preservation and adjuvant therapy may have roles in the management of these patients.

Magnetic resonance imaging-guided biopsy of mammographically and clinically occult breast lesions.

Bedrosian I,  Ann Surg Oncol. 2002 Jun; 9(5): 457-61.

Department of Surgery, University of Pennsylvania, 4 Silverstein, HUP, 3400 Spruce Street, Philadelphia, PA 19104, USA.

BACKGROUND: Breast magnetic resonance imaging (MRI) is a very sensitive technique for detection of breast cancer. We report on MRI-guided needle localization for biopsy of abnormalities seen only on MRI. METHODS: A retrospective review was performed of 231 patients with invasive breast cancer or ductal carcinoma-in-situ who had MRI as part of their evaluation and treatment at the University of Pennsylvania between 1992 and 1998. Clinical, radiological, and pathologic data were examined. RESULTS: MRI needle localization was performed in 41 (18%) patients. MRI needle localization was required for a finding of a mammographically or clinically occult lesion in 31 patients, better MRI definition of tumor in 5 patients, and surgeon's choice in 5 patients. In all cases, MRI localization and excisional biopsy were successfully completed. Nineteen of 31 patients were found to have additional mammographically and clinically occult tumors. There were 12 (29%) false-positive MRI scans. CONCLUSIONS: MRI has a high sensitivity for detection of breast cancer; additional mammographically and clinically occult sites of tumor are detected in approximately 1 (15%) of 7 breast cancer patients. These otherwise occult sites of disease can be appropriately biopsied with MRI needle-localization techniques.

Occult breast cancer and axillary mass.

Brill KL, Curr Treat Options Oncol. 2001 Apr; 2(2): 149-55.

Comprehensive Breast Center, Columbia-Presbyterian Medical Center, Atchley Pavilion 10, 161 Fort Washington Avenue, New York, NY 10032-3784, USA.

Occult breast cancer presenting with axillary metastases is an unusual presentation and can be a diagnostic and therapeutic challenge. A comprehensive work-up, including mammogram, sonogram, magnetic resonance imaging, and even pathologic examination of the mastectomy specimen may not disclose the primary tumor in up to one third of patients. Traditionally, occult breast cancer is treated with total mastectomy and axillary dissection, but accumulating data suggest that primary breast irradiation following axillary dissection may provide an equivalent survival with the advantage of breast conservation. Occult breast cancer patients are eligible for adjuvant chemotherapy and radiation as stage II/ III node-positive patients would be treated. Overall, the prognosis for occult breast cancer is equivalent to or slightly better than staged counterparts with detectable primary breast tumors.

Occult breast carcinoma presenting as axillary metastases.

Foroudi F,  Int J Radiat Oncol Biol Phys. 2000 Apr 1; 47(1): 143-7.

Westmead Hospital, Westmead, Australia. Foroudi@radonc.wsahs.nsw.gov.au

PURPOSE: Breast carcinoma presenting with axillary lymphadenopathy and no clinical or radiological evidence of a primary tumor is a rare presentation. We aimed to examine the management of the breast by observation, radiation therapy, or mastectomy. METHODS AND MATERIALS: Departmental records from 1979 to 1996 of unknown primary presentations and cases of T0N1-2M0 breast carcinoma were reviewed to find cases of occult breast carcinoma presenting as axillary lymphadenopathy with no clinical or imaging evidence of a primary tumor. RESULTS: There were 6047 presentations of breast carcinoma with 20 cases of occult breast carcinoma meeting the criteria. The breast was treated by observation in 6 cases, mastectomy in 2 cases, and radiotherapy to the intact breast in 12 cases. Eighty-three percent of patients (5 of 6 patients) who had observation of the breast had a local recurrence, compared to 25% who had radiotherapy to the intact breast (3 of 12 patients) and 0% who had a mastectomy (0 of 2 patients). The median recurrence-free survival was 7 months in patients who had observation of the breast, compared to 182 months in patients who had local treatment. Three of the 6 patients who underwent breast observation have died whereas 1 of the 14 who had local treatment have died, with a mean follow-up of 73 months. It was found that patients having observation of the breast had a poorer recurrence-free survival (p = 0.003) and overall survival (p = 0.05) compared to those having local treatment of the breast. CONCLUSIONS: Patients with such a presentation should have a complete physical examination, mammography, ultrasound, and MRI of the breasts. If there remains no evidence of a primary tumor, an axillary dissection should be carried out and the breast treated by radiotherapy or mastectomy. Observation of the breast is not a recommended option.

Occult breast carcinoma presenting with axillary lymph node metastases.

Medina-Franco H  Rev Invest Clin. 2002 May-Jun; 54(3): 204-8.

Department of General Surgery, Section of Surgical Oncology, University of Alabama at Birmingham, Birmingham, AL, USA. herimd@hotmail.com

BACKGROUND AND OBJECTIVES: Occult primary breast carcinoma is uncommon. Most reported series encompass a large periods of time with great variability in diagnostic and treatment approaches. The objective of the present study was to review the recent experience with this type of presentation of breast cancer in the University of Alabama at Birmingham. METHODS: Retrospective review of clinicopathological data of female patients presenting with axillary metastasis of adenocarcinoma with unknown primary and normal clinical and mammographic breast exam seen at UAB between 1985 and 1998. RESULTS: Ten patients were identified. Mean age was 56 years. Sixty per cent were white and postmenopausal. All patients had biopsy proven adenocarcinoma consistent with breast primary. All but one patient underwent an axillary dissection. Nine out of ten patients received some type of local treatment to the breast. Three of them underwent mastectomy and no invasive carcinoma was demonstrated in the surgical specimens. Six patients received radiation therapy to the breast. All patients received chemotherapy. With mean follow-up time of 48 months, two patients developed local recurrence to the axilla and four developed distant metastasis and eventually died. At last follow-up six patients are alive with no evidence of disease. CONCLUSIONS: In presence of axillary metastasis from an unknown breast primary, an extensive work-up evaluation is not necessary. An axillary dissection is recommended to provide prognostic indicators as well as local control. A breast conservation approach seems to be feasible without affect the local control and survival.

Breast carcinoma presenting as axillary metastases without evidence of a primary tumor.

Merson M  Cancer. 1992 Jul 15; 70(2): 504-8.

Istituto Nazionale Tumori, Milan, Italy.

BACKGROUND. Sixty cases of axillary metastases from clinically occult breast cancer were analyzed. All cases had histologic evidence of metastatic nodes compatible with breast carcinoma. METHODS. Thirty-three patients underwent breast surgery at the time of histologic diagnosis of the axillary metastases, 6 patients were treated with radiation therapy to the breast, and 17 patients did not receive any immediate treatment of the breast carcinoma (9 of these subsequently had a primary breast carcinoma) during the follow-up. Thirty-seven of 60 patients underwent adjuvant therapy (29 underwent chemotherapy and 8 underwent tamoxifen therapy). From the histologic point of view, the number of metastatic nodes was 1 in 13 patients, 2 to 3 in 10 patients, and 4 or more in 23 patients; the number of metastatic nodes was not evaluable in 14 cases. Invasion was extranodal in 92% of cases. Eighty-six percent of cases were histologically classified as Grade 3 according to Bloom and Richardson. RESULTS. The 5-year and 10-year survival rates were 77% and 58%, respectively. The comparison between the survival curves of the patients treated with immediate surgery/radiation therapy and of the patients whose cases were followed-up without treatment to the breast showed no difference. Adjuvant treatments did not improve prognoses. CONCLUSIONS. The coexistence of a minimal (or unidentifiable) primary carcinoma with an extensive involvement of axillary nodes and a predominance of the undifferentiated histologic type, together with an unexpectedly good prognosis, makes this type of presentation an interesting example of a dissociated host resistance.

MRI of occult breast carcinoma in a high-risk population.

Morris EA,  AJR Am J Roentgenol. 2003 Sep; 181(3): 619-26.

Breast Imaging Section, Department of Radiology, Memorial Sloan-Kettering Cancer Center, 1275 York Ave., New York, NY 10021, USA. morrise@mskcc.org

OBJECTIVE: The purpose of this study was to determine the frequency of cancer and the positive predictive value of biopsy in the first screening round of breast MRI in women at high risk of developing breast cancer. MATERIALS AND METHODS: Retrospective review was performed of the records of 367 consecutive women at high risk of developing breast cancer who had normal findings on mammography and their first breast MRI screening examination during a 2-year period. The frequency of recommending biopsy at the first screening MRI study and the biopsy results were reviewed. RESULTS: Biopsy was recommended in 64 women (17%). Biopsy revealed cancer that was occult on mammography and physical examination in 14 (24%) of 59 women who had biopsy and in 14 (4%) of 367 women who underwent breast MRI screening. Histologic findings in 14 women with cancer were ductal carcinoma in situ in eight (57%) and infiltrating carcinoma in six (43%). The median size of infiltrating carcinoma was 0.4 cm (range, 0.1-1.2 cm). Two patients had nodes that were positive for cancer. Biopsy revealed high-risk lesions (atypical ductal hyperplasia, atypical lobular hyperplasia, lobular carcinoma in situ, or radial scar) in 13 (4%) of 367 women and other benign findings in 32 (9%) of 367 women who had MRI screening. CONCLUSION: Among women at high risk of developing breast cancer, breast MRI led to a recommendation of biopsy in 17%. Cancer was found in 24% of women who underwent biopsy and in 4% of women who had breast MRI screening. More than half the MRI-detected cancers were ductal carcinoma in situ.

Feasibility of breast preservation in the treatment of occult primary carcinoma presenting with axillary metastases.

Vlastos G,  Ann Surg Oncol. 2001 Jun; 8(5): 425-31.

Department of Surgical Oncology, The University of Texas M.D. Anderson Cancer Center, Houston 77030, USA.

BACKGROUND: The objective of the study was to compare the treatment outcomes in patients with occult primary carcinoma with axillary lymph node metastasis who were treated with mastectomy or with intent to preserve the breast. METHODS: From 1951 to 1998, 479 female patients were registered with axillary lymph node metastasis from an unknown primary. After clinical workup, including mammography, 45 patients retained this diagnosis and received treatment for T0 N1-2 M0 carcinoma of the breast. Clinical and pathological data were collected retrospectively, and survival was calculated from the date of initial diagnosis using the Kaplan-Meier method. Median follow-up time was 7 years. RESULTS: Median age was 54 years (range, 32-79). Clinical nodal status was N1 in 71% and N2 in 29% of the patients. Surgical treatment was mastectomy in 29% and an intent to preserve the breast in 71% of the patients. Locoregional radiotherapy was used in 71% and systemic chemoendocrine therapy was used in 73% of the patients. Of the 13 mastectomy patients, only one had a primary tumor discovered in the specimen. Two patients (4%) were ultimately diagnosed with lung cancer and neuroendocrine tumor. No significant difference was detected between mastectomy and breast preservation in locoregional recurrence (15% versus 13%), distant metastases (31% versus 22%), or 5-year survival (75% vs. 79%). Regardless of surgical therapy, the most important determinant of survival was the number of positive nodes. Five-year overall survival was 87% with 1-3 positive nodes compared with 42% with > or =4 positive nodes (P < .0001). CONCLUSIONS: Occult primary carcinoma with axillary metastases can be treated with preservation of the breast without a negative impact on local control or survival.