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 639 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.
Mammographically occult primary breast
cancers may be identifiable with breast magnetic resonance imaging (MRI).
Bilateral breast MRI is now considered a standard approach to evaluation of
the breasts in such patients. If a focal lesion is identified, a breast
conserving approach may be possible rather than mastectomy.
Women who have no evident primary breast
lesion and whose metastases are isolated to axillary lymph nodes after
completion of routine staging evaluation are potentially curable, and should
be managed according to standard guidelines for stage II breast cancer.
Primary therapy should include either modified radical mastectomy or
axillary lymph node dissection followed by radiation therapy to the breast.
An occult breast cancer will be
identified in 44 to 82 percent of patients when mastectomy is performed even
when physical examination and mammograms are normal. The primary
tumor is usually less than 2 cm in diameter; in occasional patients, only
carcinoma in situ is identified.
Observation of the breast without definitive
local therapy is not recommended since a high percentage of these patients
will develop a clinically manifest breast tumor. Selection of adjuvant
chemotherapy should follow standard guidelines for patients with
node-positive breast cancer.
Women with metastatic sites in addition to
axillary lymph nodes may also have metastatic breast cancer. These women
should receive a trial of systemic therapy using the guidelines for the
treatment of metastatic breast cancer. Determination of ER/PgR status is of
particular importance in these patients, since those with positive receptors
may derive major palliative benefit from hormonal therapy.. These tumors
should also be tested for evidence of HER-2/neu (c-erbB-2) expression.
Patients whose tumors are strong overexpressors (ie, 3+) by
immunohistochemistry or fluorescence in situ hybridization (FISH) should be
considered for treatment with trastuzumab alone or with other cytotoxic
Occult breast cancer presenting with axillary metastases. Updated
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
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. firstname.lastname@example.org
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
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. email@example.com
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
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.