Desmoid tumors or aggressive fibromatosis of the breast, are a rare entity, representing less than 0.2% of all primary breast tumors. The clinical presentation and evolution can mimic a malignant carcinoma, with the notable difference that a desmoid tumor cannot generate distant metastases.
Coexistence of carcinoma and tuberculosis in the breast: A rarity.KETAN VAGHOLKAR
Coexistence of carcinoma and tuberculosis in the same breast is extremely rare. The presence of two lesions in the same organ poses both a diagnostic as well as a therapeutic challenge to the surgeon. The case report highlights both the aspects of management.
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Primary squamous cell cancer (SqCC) of the breast is a rather rare disease. These tumors are known to be
quite aggressive in nature and are usually found to be treatment-resistant. Currently, there is no standard treatment
guideline for the management of primary SqCC of the breast. In this case report, we present a case of primary SqCC of
the breast in 60-year old postmenopausal women presenting as pigmented lesion over the right breast (no lump). Initial
skin biopsy (core) done by dermatologist revealed squamous cell cancer in situ (Bowen’s disease); however surgical
resection of the lesion and subsequent histopathological examination revealed primary SqCC (no secondary sites were
found elsewhere in the body).
Paget's disease of the breast is an extremely challenging problem. It not only poses a diagnostic dilemma but a therapeutic as well. The paper describes the diagnostic and therapeutic challenges.
This document provides an overview of breast cancer therapy. It discusses that breast cancer treatment is multidisciplinary, involving surgery, radiation, and systemic therapy. For early-stage breast cancer, the majority of women are candidates for either breast-conserving surgery plus radiation or mastectomy, as the risks and survival outcomes are similar between the two approaches. Adjuvant systemic therapy is used based on proven survival benefits and molecular profiling to individualize treatment.
Pilomatrix carcinoma is extremely rare malignant tumours
arising from hair follicles with around 80 cases reported till date.
Owing to the paucity of literature and similarity of clinic pathological features with its benign counterpart they are oft en misdiagnosed.These tumors are known to be locally aggressive with low albeit significant metastatic potential. Surgical excision is the mainstay of treatment with adjucant radiotherapy being used historically for improving local control. We present a case of an extremely unusual site (breast) of Pilomatrix carcinoma. To the best of our knowledge no case of Pilomatrix carcinoma of the mammary skin has been reported till date.
This document provides information on diagnosing and treating breast cancer. It discusses evaluating a patient's history and performing a physical exam. Investigation may involve fine needle aspiration biopsy or core needle biopsy to obtain samples. Breast imaging with mammography, ultrasound or MRI can further evaluate abnormalities. Staging helps determine how far cancer has spread. Surgical options include breast-conserving surgery by removing the tumor with radiation, or mastectomy by removing the entire breast. The goal is to completely remove the cancer while maximizing cosmetic results.
Primary small cell breast carcinoma represents less than 1% of breast cancers. Due to its rarity, there are no uniformly accepted guidelines for treatment. Its prognosis is varied being generally regarded as worse than that of most breast cancers and it poses unique diagnostic challenges. We present a case of primary small cell breast cancer, rationale for our management strategies with reference to the published literature to serve as a guide to the management of this rare cancer of the breast.
Coexistence of carcinoma and tuberculosis in the breast: A rarity.KETAN VAGHOLKAR
Coexistence of carcinoma and tuberculosis in the same breast is extremely rare. The presence of two lesions in the same organ poses both a diagnostic as well as a therapeutic challenge to the surgeon. The case report highlights both the aspects of management.
PRIMARY SQUAMOUS CELL CANCER OF BREAST: A CASE REPORTKETAN VAGHOLKAR
Primary squamous cell cancer (SqCC) of the breast is a rather rare disease. These tumors are known to be
quite aggressive in nature and are usually found to be treatment-resistant. Currently, there is no standard treatment
guideline for the management of primary SqCC of the breast. In this case report, we present a case of primary SqCC of
the breast in 60-year old postmenopausal women presenting as pigmented lesion over the right breast (no lump). Initial
skin biopsy (core) done by dermatologist revealed squamous cell cancer in situ (Bowen’s disease); however surgical
resection of the lesion and subsequent histopathological examination revealed primary SqCC (no secondary sites were
found elsewhere in the body).
Paget's disease of the breast is an extremely challenging problem. It not only poses a diagnostic dilemma but a therapeutic as well. The paper describes the diagnostic and therapeutic challenges.
This document provides an overview of breast cancer therapy. It discusses that breast cancer treatment is multidisciplinary, involving surgery, radiation, and systemic therapy. For early-stage breast cancer, the majority of women are candidates for either breast-conserving surgery plus radiation or mastectomy, as the risks and survival outcomes are similar between the two approaches. Adjuvant systemic therapy is used based on proven survival benefits and molecular profiling to individualize treatment.
Pilomatrix carcinoma is extremely rare malignant tumours
arising from hair follicles with around 80 cases reported till date.
Owing to the paucity of literature and similarity of clinic pathological features with its benign counterpart they are oft en misdiagnosed.These tumors are known to be locally aggressive with low albeit significant metastatic potential. Surgical excision is the mainstay of treatment with adjucant radiotherapy being used historically for improving local control. We present a case of an extremely unusual site (breast) of Pilomatrix carcinoma. To the best of our knowledge no case of Pilomatrix carcinoma of the mammary skin has been reported till date.
This document provides information on diagnosing and treating breast cancer. It discusses evaluating a patient's history and performing a physical exam. Investigation may involve fine needle aspiration biopsy or core needle biopsy to obtain samples. Breast imaging with mammography, ultrasound or MRI can further evaluate abnormalities. Staging helps determine how far cancer has spread. Surgical options include breast-conserving surgery by removing the tumor with radiation, or mastectomy by removing the entire breast. The goal is to completely remove the cancer while maximizing cosmetic results.
Primary small cell breast carcinoma represents less than 1% of breast cancers. Due to its rarity, there are no uniformly accepted guidelines for treatment. Its prognosis is varied being generally regarded as worse than that of most breast cancers and it poses unique diagnostic challenges. We present a case of primary small cell breast cancer, rationale for our management strategies with reference to the published literature to serve as a guide to the management of this rare cancer of the breast.
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aortic wall. The serious and often fatal condition of aortic dissection produces symptoms of sudden and tearing chest pain. Although aortic dissection mostly occurs in people around the age of
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score with MASS, to find out which is a better diagnostic tool for
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pulmonary liposarcoma. The patient recovered well having an uncomplicated postoperative course and was discharged after 7 days.
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Breast Desmoid Tumor with Spectacular Evolution : A Case Report and Review of Current Treatment Options
1. Clinics of Surgery
ISSN: 2638-1451
Case Report
Breast Desmoid Tumor with Spectacular Evolution : A Case
Report and Review of Current Treatment Options
Raguzzi E, Duhoux FP, Mazzeo F, Samartzi V, Libbrecht L, Van Bockstal M, Galant C, Fellah L, Berliere M
1
Breast clinic, Institut Roi Albert II, Cliniques universitaires St Luc, UCL, Bruxelles
1. Abstract
Desmoid tumors or aggressive fibromatosis of the breast, are a rare entity, representing less than
0.2% of all primary breast tumors. The clinical presentation and evolution can mimic a malignant
carcinoma, with the notable difference that a desmoid tumor cannot generate distant metastases. The
aim of the treatment is to achieve local control of this tumor, which can be highly aggressive by
deeply infiltrating surrounding structures, and frequently reoccurs after resection. Both the tumor and
its treatment may cause significant morbidity, causing a real therapeutic challenge.
We here report the case of a 63-year-old woman who underwent a tumorectomy for left breast
cancer and developed six years later a large desmoid tumor in the same breast. First medically
treated with selective estrogen receptor modulators and non-steroidal anti-inflammatory drugs, it
progressed to an ulcerative exophytic and necrotic tumor requiring surgery. To our knowledge,
this is the first description of such a spectacular evolution in the literature.
After reporting on this uncommon evolution of a rare disease, we will provide a short review of
current treatment options.
2. Introduction
Desmoid tumors (DTs), or aggressive fibromatosis, are a sub-
type of a mesenchymal neoplasm originating from a monoclo-
nal proliferation of fibroblasts. According to the World Health
Organization Classification of Soft Tissue, DTs are classified
in three groups: abdominal wall fibromatosis (AF), extra-
abdominal fibromatosis (EAF), and intra-abdominal
fibromatosis (IAF). The incidence of EAF and AF is 2.4-4.3
new cases per 106
individuals per year. It accounts for 3% of
the soft-tissue neoplasms and is even more uncommon when
occurring in the breast. The breast location is included in EAF
and represents less than 10% of all cases [1].
The pathogenesis of these DTs is multifactorial. Mutations in the
beta-catenin and adenomatous polyposis coli (APC) genes, lead-
ing to abnormalities in the WNT pathway, are responsible for the
development of most desmoid tumors. This explains the as-
sociation between Familial Adenomatous Polyposis (FAP) and a
minority of DTs, caused by germline mutations of the APC gene.
Most DTs however are sporadic and occur in women of repro-
ductive age, indicating an effect of the hormonal environment.
*Corresponding Author (s): Martine Berliere, breast clinic, Institut Roi Albert II,
Cliniques universitaires St Luc, UCL, Bruxelles.
Approximately 85%-90% of DTs are associated with somatic
beta-catenin gene mutations, leading to nuclear accumulation of
beta-catenin. Beta-catenin and APC mutations seem to be mu-
tually exclusive in DTs. The detection of a somatic beta-catenin
mutation may thus help to exclude a syndromal condition, and
conversely, beta-catenin wild type status justifies more extensive
clinical work-up to exclude a FAP syndrome (e.g. by colonosco-
py). A traumatic event, most often surgery, is another potential
risk factor for this condition [2].
DT is classified as a benign neoplasm because, unlike sarcoma, it
has no distant metastatic potential and no impact on overall
survival. This disease can nonetheless cause high morbidity due to
its high recurrence rate and subsequent treatment sequelae.
Before 2000, wide excision surgery with negative margins was
the front-line treatment of DTs [3], inspired by the treatment of
soft-tissue sarcoma [3, 4]. However, despite adequate surgery
with negative margins, the local recurrence rate remains unac-
ceptably high.
Based on new evidence detailed further, a paradigm shift has
clinicsofsurgery.com Citation: Raguzzi E, Duhoux FP, Mazzeo F, Samartzi V, Libbrecht L, Van Bockstal M, Galant C and Berliere
M, Breast Desmoid Tumor with Spectacular Evolution : A Case Report and Review of Current Treatment
Options. Clinics of Sugery. 2019;1(6): 15.
Volume 1 Issue 6- 2019
Received Date: 07 Apr 2019
Accepted Date: 11 Apr 2019
Published Date: 02 May 2019
3. clinicsofsurgery.com 3
Volume 1 Issue 6-2019
Figure e: Macroscopy of the desmoid tumor, measuring 11x10,5x5,5cm in
total with an exophytic transcutaneous part measuring 6 x 5 x 3cm.
Next generation sequencing of the beta-catenin (CTNNB1) and
APC genes was performed. No CTNNB1 mutation was found in
the tumor, but a somatic APC mutation was found. These results
could be in favor of FAP but the patient has no familial history of
colorectal cancer or polyps. Additionally, FAP is usually associ-
ated with IAF, which does not include breast DTs.
A supplemental surgical procedure was necessary one month
af-ter the initial procedure because of a small cutaneous
dehiscence of the scar. The recommendation of the
multidisciplinary board was to continue tamoxifen as a
maintenance treatment and to perform close follow-up.
At 4 months of follow-up, clinical examination shows no sign
of recurrence.
Figure f: Micro.
4. Discussion
While traditional management of DTs used to consist in a wide
surgical excision with clear margins, recent studies have
demonstrated that desmoid tumors can spontaneously regress,
or re-main stable without any treatment in 20-30% of the cases
[5-7]. On the other hand, we know that a very high rate of
recurrence after surgery is described for all locations of DTs
(25 to 60%) [8]. In breast DTs, the overall recurrence rate after
surgery ranges from 18 to 39%[9]. Moreover, trauma, and
particularly surgery, can lead to de novo development of DT
[10]. It is estimated that 30% of breast DTs occur at the site of a
past trauma or breast surgery, performed both for cosmetic or
carcinologic reasons [2, 11]. In our case-report, the patient had
a personal history of lumpectomy in the same breast.
These observations have led to a new strategy for the management
of DTs, called « wait and see » approach. It consists of initial
clinico-radiological surveillance after diagnosis of DT, with or
without adjunction of medical therapies such as NSAIDs or
tamoxifen, while surgery or more aggressive treatments like che-
Case Report
motherapy and radiotherapy are proposed in case of
progression of the disease [3, 6, 7].
Current data show that progression occurs in the vast majority
within the 3 first years after diagnosis [3, 7, 10]. Therefore, an
observation period without treatment allows for the identifica-
tion of the patients who really require surgery, while avoiding
overtreatment of DTs that spontaneously regress or remain
stable and paucisymptomatic.
The first studies which supported this « wait and see » policy
were based on retrospective data on patients with various sites
of DTs, including breast DT.
In the study of Fiore et al. [7], five-year progression-free sur-
vival (PFS) was 49.9% with this « wait and see » approach. In
the study of Turner et al [12], watchful waiting was successful
in 58% of patients with no progression in the first 3 years of
follow-up (with the adjunction of NSAIDs and/or tamoxifen in
20% of the patients).
In the study of Roussin et al [2], focused on the results of a « wait
and see » approach in breast DT, 91% of patients did not require
any surgery or radiotherapy within 36 months of follow-up, and all
of them had stable lesions (median tumor size change was -4
mm during follow-up (range to -13 to +20 mm). Recent
prospective data by Penel et al [13] show a 2-years event-free
survival, defined as the absence of progressive disease during
observation, relapse after surgery or change in therapeutic
strategy, of 58%. Studies have also shown that this « wait and
see » period does not induce more morbidity to patients who
progress and ultimately require treatment [12].
Predictive factors of progression during observation or recur-
rence after surgery are still under investigation. Young age,
large tumor size, unfavorable location (chest wall, head and
neck, up-per limb), or somatic mutations in the beta-catenin
gene (CTN-NB1, in particular the S45F mutation) have been
identified as factors of progression/recurrence [10, 13, 14].
In the surgical management of DT, resection margins remain a
controversial issue because of conflicting data about their impact
on recurrence after surgery [10, 15]. Numerous studies have shown
no effect of microscopic margins on the recurrence rate [7, 12, 13,
16, 17]. Survival curves are not significantly different if the
resection is microscopically complete (R0) or incomplete (R1), but
R2 resections result in a significantly poorer prognosis. From these
observations, guidelines now state that when surgical therapy is
needed, wide local excision with microscopically negative margins
is the goal of resection but should not be at the expense of organ or
limb function [4, 18]. Conservative surgery rather than obtaining
R0 resection is recommended, in order to avoid unnecessary
morbidity and functional deficits attributable
4. clinicsofsurgery.com 4
to radical surgeries.
Local (radiation therapy) or systemic therapies are usually indi-
cated in patients who have disease-related symptoms or
progression of inoperable disease. Radiotherapy up to a dose of
56 Gy in 28 fractions of 2Gy has been shown to provide
adequate local control in the majority of progressive patients
[19]. In the adjuvant setting, a meta-analysis of retrospective
studies has shown that radiotherapy may reduce the risk of local
recurrence after incomplete surgical resection (R1/R2),
especially in patients with recurrent disease [15].
There is a large choice of systemic therapies available for DTs:
chemotherapy, hormonal therapy, NSAIDs and tyrosine kinase
inhibitors [20]. There is no accepted standard of care because
data concerning these therapies originate from case reports and
retrospective studies [21]. In the absence of randomized trials, it
is difficult to identify if responses are attributable to the treat-
ment or to the natural history of the tumor, which can spontane-
ously regress in the absence of any systemic therapy.
Cytotoxic chemotherapy is usually the first treatment option for
rapidly growing, unrespectable disease that is either threatening
limb function or symptomatic, a rare situation in a disease that
usually has an indolent evolution. The most frequently used
regimens are either a combination of methotrexate and
vinblastine or an anthracycline-based chemotherapy [22].
Concerning endocrine therapy, the use of Selective Estrogen-Re-
ceptor Modulators (SERMs, tamoxifen) finds its rationale in the
expression of hormonal receptors by DTs and has mainly been
described in case reports and retrospective studies. However, in
contrast with other locations of EAF, most breast DTs do not ex-
press any progesterone or estrogen receptors. Despite this fact, one
case report has shown a significant decrease in size of a breast DT
with the use of tamoxifen 20mg daily [23].
NSAIDs, often used in combination with tamoxifen, have also
shown responses in retrospective studies [24]. Their mechanism
of action targets the want pathway, via inhibition of
cyclooxygen-ase-2 (COX-2) [25].
Targeted therapies such as tyrosine kinase inhibitors (TKIs) have
been studied in DTs since the identification of c-kit and PDGFR in
DF tissue. Targeting them with TKIs blocks proliferation and cell
differenciation [26-28]. For example, sorafenib, an oral mul-
titargeted receptor tyrosine kinase inhibitor, when administered at a
daily dose of 400mg, has shown to have an acceptable safety
profile and is associated with a response rate of 25% [29]. Re-
cently, a prospective, randomized, double-blind, placebo-con-
trolled phase 3 trial has shown a 2-years PFS rate of 81% with
sorafenib versus 36% with placebo (p<0,001), after a median
follow-up of 27 months [28]. Side effects were grade 1 or 2 rash,
fatigue, hypertension and diarrhea. These new results could be
really practice-changing.
This case report illustrates the fact that although breast DT is a rare
condition which is commonly indolent, it can also show
spectacular progression after several months of expectant man-
agement and become locally aggressive. In accordance with the
new European guidelines, we first observed a « wait and see » pe-
riod, with the adjunction of medical treatments (tamoxifen 20mg
and NSAIDs). After an uneventful follow-up of 12 months, the DT
quickly progressed and became symptomatic. We used surgery as
second-line treatment, with a suboptimal R2 resection, but we
wanted to avoid a mutilating surgery. As discussed earlier, this
period of observation, which led in this case to a progressive
disease, did not cause any additional morbidity. As the patient had
already received radiation therapy for her first breast cancer, we
could not repeat this treatment modality for adjuvant therapy. We
proposed to continue tamoxifen as a maintenance treatment,
hoping that it would delay an unfortunately highly probable re-
currence. At the time of writing this case report, we only had 4
months of follow-up, which is not sufficient to exclude that the
tumor will relapse. However we have succeeded so far to relieve
the symptoms without compromising limb function or esthetics.
5. Conclusion
Breast DT is a rare entity with a complex and unpredictable natu-
ral history, which ranges from spontaneous regression to aggres-
sive progression. These variations in the clinical presentation and
the multiple available treatments make the management of such
tumors a real challenge, requiring the involvement of an expe-
rienced multidisciplinary team. European guidelines [4] now
recommend an initial period of observation called « wait and see »
approach, supporting the evidence that DTs observed for a period
after diagnosis remain often stable, paucisymptomatic, or even
regress, requiring no further treatment.
In case of progressive, symptomatic or disabling disease,
surgery can be offered, with the lowest possible esthetic and
functional impact, since it has not been proven that negative
resection mar-gins decrease the risk of recurrence.
In case of unrespectable progressive disease (or if resection is
associated with unacceptably high morbidity), or symptomatic
disease, targeted therapy with tyrosine kinase inhibitor
sorafenib has now proven its efficacy.
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