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CASE 52: HEAVY AND PAINFUL MENSTRUAL
BLEEDING
A 40-year-old woman presents to her general practitioner complaining of increasingly heavy
and painful menstrual bleeding. She denies any significant medical history and is taking no
regular medication.
Examination
On examination the patient looks well, has a body mass index of 28, and no abnormality is
found on abdominal examination.
QUESTIONS
1.
What is the likely diagnosis?
2. The patient asks what the diagnosis means and what the treatment options are.
How will you explain this to her?
INVESTIGATIONS
Ultrasound pelvis: Several rounded, heterogeneous masses within the uterus, the
largest of which measures 8 cm in diameter.
DOI: 10.1201/9781003242697-54
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ANSWERS
This patient has uterine fibroids, also known as leiomyomas. These are benign tumours of the
muscle of the uterus (myometrium). Whereas fibroids are the most common benign tumours
of the female genital tract (and of women in general), malignant tumours of the myometrium
are rare and are called leiomyosarcomas. Fibroids typically present during the reproductive
years, and most are asymptomatic. Others, depending on their size and location, may present
with abdominal distension, abnormal menstrual bleeding (which in turn may lead to iron-
deficiency anaemia), urinary frequency, pain during sexual intercourse or, rarely, infertility,
which is associated more often with fibroids located immediately underneath the lining of the
womb (endometrium). Malignant transformation is exceedingly rare, and most leiomyosar-
comas are thought to arise de novo and not from leiomyomas.
Fibroids may be single or multiple and located anywhere within the uterus (subserosal, intra-
mural, or submucosal), including the cervix, and can also be found in the uterine broad
ligament. Although larger fibroids may be diagnosed by bimanual pelvic examination, the
diagnosis is usually made through gynaecological ultrasound examination. Fibroids may also
be diagnosed with magnetic resonance imaging (MRI), but neither imaging modality reli-
ably distinguishes fibroids from their rare malignant counterpart. Larger fibroids may show
changes such as infarction or haemorrhage, which makes this distinction more dicult.
Fibroids are monoclonal benign tumours, with nearly half of fibroids having a simple chro-
mosomal abnormality. The aetiology is poorly understood, but factors that play a role in the
development and growth of fibroids include a genetic predisposition, growth factors, and the
eects and interplay of the hormones oestrogen and progesterone. Known risk factors include
obesity, diabetes, hypertension, African descent and polycystic ovary syndrome.
Fibroids tend to shrink after menopause, when levels of oestrogen decrease. Therefore, it is
typically only symptomatic fibroids in women in their reproductive years which require treat-
ment. The treatment options may be medical (with drugs aimed at shrinking fibroids or con-
trolling symptoms) or surgical (uterine artery embolisation, myomectomy or hysterectomy).
All fibroids need to be submitted for histological examination to exclude malignant change.
Fibroids typically have a white or cream-coloured whorled cut surface and shell out with ease
from the surrounding myometrium. Microscopically they consist of uniform smooth muscle
cells arranged in bundles, with cigar-shaped nuclei and slender cytoplasmic processes. The
presence of significant nuclear atypia, necrosis, and prominent mitotic activity will alert
the pathologist that the fibroid may not be a leiomyoma, but its malignant counterpart, a
leiomyosarcoma.
KEY POINTS
•
Fibroids (uterine leiomyomas) are the most common benign tumours of women
and may present with vague abdominal symptoms, heavy menstrual bleeding, uri-
nary symptoms or are commonly asymptomatic.
•
Diagnosis is made by abdominal or bimanual pelvic examination or gynaecologi-
cal ultrasonography.
•
Management options depend on patient choice and size and location of fibroids,
and may include medical, interventional radiological or surgical treatment.
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CASE 53: ABNORMAL VAGINAL BLEEDING
A 35-year-old woman presents to her general practitioner complaining of post-coital vaginal
bleeding and a vaginal discharge. She has no other medical history and has never had a cer-
vical smear. She cohabits with a male partner and has no children.
Examination
General examination is within normal limits. The patient is referred for a cervical smear
test, and on receipt of an abnormal result 10 days later, an urgent referral to the colposcopy
service at her local hospital is made.
Colposcopic examination shows a firm mass distorting the cervix. Directed biopsies are
obtained from the mass and submitted for pathological examination.
INVESTIGATIONS
Cytological examination of the exfoliated superficial cervical epithelial cells
sampled at the smear test shows severe squamous dyskaryosis and koilocytosis.
The subsequent biopsy is reported as showing “invasive squamous cell carcinoma
with associated CIN 3”.
QUESTIONS
1.
What is the diagnosis?
2. What is the role of cervical screening?
3. How does this condition typically present?
4. What treatment options are available?
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ANSWERS
The patient has cervical cancer. The most common type of cervical cancer is squamous cell
carcinoma (approximately 85% of cervical cancers), with the rest being adenocarcinomas or
adenosquamous carcinomas.
The vast majority of both squamous cell carcinomas and adenocarcinomas of the cervix
are preceded by a precancerous lesion, known as cervical intraepithelial neoplasia (CIN) or
cervical glandular intraepithelial neoplasia (CGIN), respectively. These precancerous lesions
can be detected on smear tests of the cervix, commonly known as a Pap (Papanicolaou)
smear, which is now being replaced by an improved method known as liquid-based cytology.
As these precancerous lesions may exist in the non-invasive stage for many years, its timely
diagnosis allows treatment to prevent progression to invasive carcinoma (although such pro-
gression is not invariably the case for all precancerous lesions).
Squamous cell carcinoma of the cervix may occur at any age from the late teens to old age
but is most common in between the ages of 40 and 45 and approximately 10 years later than
the peak incidence for high-grade intraepithelial neoplasia.
The National Health Service (NHS) cervical screening programme, which screens the high-
est-risk age group (25–49 years) every 3 years and those aged 50–64 every 5 years, has been
highly successful, as evidenced by the marked decline in deaths from cervical cancer.
In almost all cases of cervical cancer, infection by human papillomavirus (HPV) is a neces-
sary factor. This is a large group of viruses with several low-risk and high-risk types identi-
fied. Vaccines have been developed against two of the most important high-risk types (types
16 and 18), and HPV vaccination is currently being oered to certain groups of women and
to girls aged 12–13 years. Smoking is a much less common risk factor for the development of
cervical cancer, and the incidence of cervical cancer is higher in women with HIV disease.
The most common presenting symptoms of cervical cancer are abnormal vaginal bleeding or
a vaginal discharge, but many cases are asymptomatic even at an advanced stage. Cervical
precancers are most commonly asymptomatic, further demonstrating the importance of
screening.
Treatment for precancerous lesions of the cervix, depending on the grade of abnormality, is
typically local excision of the transformation zone of the cervix, known as an LLETZ, with
more frequent follow-up by cervical smear following such treatment.
Treatment for invasive cervical carcinoma usually includes surgery (e.g., trachelectomy, in
which the uterus and ovaries are not removed in order to preserve fertility, or hysterectomy)
and in more advanced stages, radiotherapy and/or chemotherapy.
KEY POINTS
•
Cervical smear tests are an effective method of detecting the vast majority of cer-
vical precancerous lesions so that preventative treatment can be offered.
•
Cervical cancer is often asymptomatic, even in advanced stages, or may present
with abnormal vaginal bleeding or a vaginal discharge.
•
High-grade precancerous lesions and early stage invasive cancers are typically
treated with surgical procedures in which fertility is retained.
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CASE 54: A LUMP IN THE BREAST
A 33-year-old woman presents with a lump in her right breast that has been present for 2
weeks. It was detected on self-examination and has continued to enlarge. There is a history
of ovarian cancer (mother), but not breast cancer, in her family.
Examination
A 2.5-cm-diameter lump is found in the upper outer quadrant of the right breast, which
is hard and irregular but not fixed to the skin or to deeper tissue. There is also a palpable
1-cm lymph node in the right axilla. Examination of the contralateral breast and axilla is
unremarkable.
INVESTIGATIONS
•
Ultrasound: Suspicious lump in right breast; axillary lymph node of normal echo-
genicity with a prominent vascular hilum.
•
A core biopsy of the breast lump and fine needle aspiration (FNA) of the right axil-
lary lymph node are performed.
QUESTIONS
1.
Is the history of ovarian cancer relevant in this patient?
2. Why are a core biopsy of the breast lump performed and FNA of the axillary
lymph node?
3. What clinically useful information is provided by the tissue samples?
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ANSWERS
The clinical and radiological features in this patient are suspicious of breast cancer. Breast
cancer aects one in eight women (lifetime risk) in the UK. Screening for breast cancer by
mammography or ultrasound begins at age 50 years in the UK, but 10 years earlier if there
is a family history of breast or ovarian cancer. However, some patients may present with
a tumour at an earlier age. Younger women tend to have ultrasound assessment, as they
have more glandular tissue, whereas in older women, the breast undergoes fatty replace-
ment, which makes them less dense and more amenable to mammographic assessment.
Mammography will typically show a spiculated mass in breast cancer. However, it should be
noted that mammography could miss palpable breast lumps and non-calcified lesions espe-
cially in the radio-dense breasts of premenopausal women. Between 10% and 40% of women
who are found to have a mass by mammography will have breast cancer.
Core biopsy is the standard method of sampling a suspicious breast lump. This allows assess-
ment of both invasive and in situ carcinoma; the latter is not reliably predicted by FNA and
is important in clinical decision-making. However, FNA is preferred for targeting axillary
nodes, as it is easier to direct a fine needle deep in the axilla under ultrasound guidance. It is
less traumatic and poses a lower risk of accidentally puncturing deeper structures, including
blood vessels and the pleura, compared to the larger core biopsy needle.
The core biopsy provides histological confirmation of whether the carcinoma invades the
basement membrane and its subtype, such as ductal, lobular or mucinous carcinoma. Invasive
ductal carcinoma is the most common subtype of breast cancer, accounting for around 75%
of all breast cancer. It commonly metastasises to the axillary nodes and is associated with
ductal carcinoma in situ (DCIS). Invasive lobular carcinoma shows a diuse distribution in
the breast, and hence is more likely to be multi-focal and bilateral.
Nuclear grading (1–3) of the tumour is also a prognostic marker, with higher grades of car-
cinoma being associated with a more aggressive clinical course. Tissue sampling also allows
assessment of oestrogen and progesterone receptor expression by the tumour cells. Expression
of these steroid receptors makes the tumour susceptible to hormone (anti-oestrogen) therapy
and is associated with a better outcome compared to tumours that do not express these mark-
ers. Expression of c-erbB2 (Her2/neu) is also associated with better outcome and amenabil-
ity to specific types of therapy in selected cases. The presence of lymphovascular invasion
indicates the likelihood of spread of tumour cells beyond the breast, thereby conferring a
poorer outlook. Without lymph node involvement, the 10-year disease-free survival is close
to 70–80% but falls progressively with the number of involved nodes.
Clinical management of breast cancer includes using combinations of surgery, radiotherapy,
hormonal therapy and systemic chemotherapy. In spite of good local control of disease, local
and distant recurrences remain a problem in breast cancer, as tumour cells are believed to
spread systemically early in the course of the disease.
KEY POINTS
•
Breast carcinoma affects one in eight women, and a screening programme is avail-
able in the UK.
•
Diagnosis relies on triple assessment by physical examination, radiology and
biopsy.
•
Despite advances in clinical management, local and distant recurrences remain a
significant challenge.
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CASE 55: LYMPH NODE ENLARGEMENT IN A
YOUNG MAN
A 26-year-old Afro-Caribbean man is referred to the ear/nose/throat (ENT) clinic with pro-
gressively enlarging bilateral neck lumps. There is a history of mild, non-productive cough
o and on but no fever or weight loss.
Examination
Examination of the neck reveals cervical lymphadenopathy with discrete, firm, non-tender
nodes. There is no palpable lymphadenopathy in the axillae or groins. There is no clinical
evidence of ENT infection.
INVESTIGATIONS
Fine needle aspiration (FNA) of the largest lymph node: groups of epithelioid cells in a
reactive lymphoid background, with no evidence of necrosis or malignant cells.
QUESTIONS
1.
What is the clinical differential diagnosis in this case?
2. What clinically useful information is available from the FNA?
3. What further investigations should be performed to confirm the diagnosis?
DOI: 10.1201/9781003242697-57
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ANSWERS
The clinical dierential diagnosis in this case includes tuberculosis (TB), sarcoidosis, and
Hodgkin’s lymphoma. Systemic symptoms such as fever and night sweats are seen in TB and
lymphoma but are not reported by the patient. In TB, the lymph nodes are typically matted,
while in Hodgkin’s lymphoma these are rubbery and involve contiguous groups of nodes.
Hence, the clinical history and investigation favours sarcoidosis by exclusion, but diagnosis
requires histologic confirmation.
The FNA shows groups of epithelioid cells, which are modified macrophages with abundant
cytoplasm and a footprint-shaped nucleus. Collections of epithelioid cells are called granulo-
mata; hence the cytological diagnosis is granulomatous lymphadenitis. There is an accom-
panying mixed lymphoid population of mature and transformed lymphocytes. No necrosis
is seen, which makes TB less likely, although this is not an essential feature. There is no
evidence of Hodgkin’s lymphoma in which Reed-Sternberg cells, mononuclear Hodgkin cells
and eosinophils may be seen on FNA.
There are many possible causes for granulomatous inflammation. Infectious causes (besides
Mycobacteria) include fungal infections such as Histoplasma and Cryptococcus. Non-infectious
causes include inflammatory conditions such as Crohn’s disease and sarcoidosis. Foreign
bodies such as prosthetic implants and surgical suture material in tissues may also lead to
formation of granulomata with giant cells.
Needle washings from the FNA should always be sent for detection of acid-fast bacilli (AFB)
by direct demonstration on special stains such as Ziehl-Neelsen stain or auramine. Silver
staining should be performed to look for fungal organisms. Microbiological culture should
also be done, as AFB are not always detected on special stains.
In the given case, the FNA finding of non-necrotising granulomatous inflammation in a
young man should prompt further investigations for sarcoidosis. If found to be elevated, the
serum angiotensin-converting enzyme (ACE) level would suggest a diagnosis of sarcoidosis,
since the enzyme is found in epithelioid cells forming granulomas. Serum calcium may
also be elevated, since sarcoidal macrophages contain 1-α-hydroxylase, thereby leading to
increased levels of 1,25-vitamin D, which is responsible for increasing calcium reabsorption
from the gut as well as mobilisation from bone. Chest imaging (initially plain radiography
and then CT) should be performed to look for pulmonary involvement, which is a common
site of disease. Bilateral hilar lymphadenopathy is classically seen if the lungs are involved.
The aetiology of sarcoidosis is not well understood, but is believed to be due to dysregulation
of the immune system after exposure to an as-yet-unidentified agent. The disease may aect
any organ in the body, but often involves the lungs, producing a restrictive lung defect. Skin
lesions may also be seen, with the combination of erythema nodosum, bilateral hilar lymph-
adenopathy, and arthralgia being called Löfgren’s syndrome, a form of acute sarcoidosis.
Systemic symptoms, such as fevers, night sweats, and weight loss, are also common.
Many patients with sarcoidosis do not require treatment, as the disease may remit spontane-
ously and often does so within 5 years. If patients are especially symptomatic, corticosteroids
may be used. A small number of patients with pulmonary sarcoidosis may progress to pro-
gressive pulmonary fibrosis.
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Case 55: Lymph Node Enlargement in a Young Man
KEY POINTS
•
Granulomata are collections of modified macrophages called epithelioid cells and
are found as a specialised inflammatory response to certain agents, which may be
infectious (e.g., Mycobacteria) or non-infectious (e.g., sarcoidosis)
•
Sarcoidosis is a systemic illness, and investigations such as serum ACE levels,
radiological investigations, and FNA are used in making the diagnosis.
•
FNA is the first-line investigation for palpable lumps and can rapidly and accu-
rately make a tissue diagnosis, avoiding the need for an excision biopsy.
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