Summary by Dr. C.Bour, 18 December 2021
This case involves a 65-year-old woman who began mammograms at age 40 due to a family history of breast cancer (mother at age 80). She has already had biopsies, which revealed that she had a simple mastosis (benign condition of the breast, characterized by tension and pain in the breasts, as well as a "granular" consistency when palpating the breasts, in areas where the mammary gland is more present and dense).
A mammogram revealed two small foci of microcalcifications in one breast. A preliminary macrobiopsy was carried out, but it was unsuccessful due to difficulties in locating them. A few months later, a second macrobiopsy was performed.
The two biopsied sites revealed a carcinoma in situ (ductal carcinoma) and an "atypical hyperplasia" lesion. Due to the presence of two concomitant lesions, a complete mastectomy (complete removal) of the breast was recommended based on the pathology report.
Anatomopathology is not infallible
Breast biopsy samples can be difficult to analyze.
In a 2016 study published in the BMJ, American researchers assessed the effectiveness of 12 different strategies in reducing interpretation errors (second opinion requested for all samples, second opinion only in the case of atypia, or only in the case of the wish of the first pathologist or for first readers with less experience in breast pathology, etc...).
115 pathologists examined 240 breast biopsy specimens, one slide per case, and compared their observations to an expert consensus diagnosis.
This study revealed that pathologists who took part in the study disagreed with the expert panel's consensus about 25% of the time. Most of the disagreements were with specimens from difficult-to-interpret conditions, such as atypia, which occurs when cells appear abnormal but are not cancerous, and ductal carcinoma in situ (DCIS)
The conclusion of the study: except for invasive cancer cases where the second opinion rarely differs from the initial interpretation, ALL strategies requiring a second opinion improve diagnostic concordance and reduce misclassification rates of breast specimens from 24.7% to 18.1%, showing that variability in diagnosis is still only incompletely eliminated, especially for breast specimens with atypia.
A second opinion is thus recommended because it can mean the difference between a diagnosis of benign hyperplasia or carcinoma in situ, influencing surgical sanctions, the need for re-intervention, radiotherapy, and/or chemotherapy.
As a result, a second opinion can help patients make a therapeutic choice.
Why not propose a more systematic second reading of the biopsy?
In the case of a positive biopsy, the start of the disease is defined by this single examination of the tissue taken under the microscope (i.e., except for invasive cancer, where uncertainty is rarer) (histological diagnosis).
And it is astounding to note how, on the one hand, DCIS is considered a “stage 0” breast cancer with a very good prognosis, and how, on the other hand, the therapeutic sanctions for this DCIS and a fortiori for pre-cancerous lesions can be extremely aggressive, as aggressive as for a "true" invasive cancer.
The patient does not know the name of the person who read her biopsy; worse, she does not have the choice of the reader of her biopsy, the anatomopathologist, contrary to the choice she has for the general practitioner, the gynecologist, and even a surgeon if necessary.
This pathological anatomy report is never communicated to the patient, although it is strictly necessary and mandatory for treatment to begin. It determines the course of treatment and the therapeutic options available.
On the other hand, the pathology report is part of the patient's file and can thus be requested by the patient.
Recommendations for patients if carcinoma in situ or a borderline or atypical lesion is found.
First and foremost, don't panic; take your time. You have the following options:
1- Request that the biopsy results be sent to you physician.
2- In the event of a failure, request a complete copy of the medical file (mandatory within 8 days)
3- If you are unsuccessful, request that the Medical Council intervene to obtain it for you. You are the owner of the medical file.
4- With the result, it is legitimate to ask for a revision of the anatomopathology slides. You can even have the file re-examined by an expert (your general practitioner just has to ask for it).
5-It is also possible to ask for a second opinion from another surgeon, possibly located in another region.
The therapeutic choice can be discussed: a less aggressive intervention or even simply "careful monitoring," knowing that unfortunately in France, for the moment, very few practitioners are adept at this wait-and-see approach which is being studied in several large European trials, including the LORD trial which is still including patients.
(-Since February 2019 are also accepted CIS grade II, in addition to grade I
-Since July 2020, the randomized trial has been transformed into a patient preference trial: women have the choice of the trial arm (either surveillance or conventional treatment)
Estrogen receptor and HER2 testing has been added before patients are enrolled in the trial to rule out high-grade lesions, to provide even greater safety in the trial
-There are now 28 sites open in the Netherlands, 6 in Belgium, and 15 sites will open in other countries (France, to come!)
An anatomopathological diagnosis should be reviewed and discussed by caregivers, rather than being accepted as a "gold standard" because it may trigger a series of aggressive treatments, the usefulness of which should be discussed with the patient.