Malignant Perivascular Epithelioid Cell Tumor (PEComa) of the Uterus as Part of the Hereditary Cancer Syndrome: A Case Diagnosed with Multiple Malignancies
Sultan CALISKAN1, Omer Salih AKAR2, Seda GUN1, Mehmet KEFELI1
1Department of Pathology, Ondokuz Mayýs University, Faculty of Medicine, SAMSUN, TURKEY
2Department of Genetics, Ondokuz Mayýs University, Faculty of Medicine, SAMSUN, TURKEY
Keywords: PEComa, Uterine, Malignant, Breast carcinoma, Colorectal carcinoma
A perivascular epithelioid cell tumor (PEComa) is an uncommon mesenchymal tumor composed of perivascular epithelioid cells. These
tumor cells show variable immunoreactivity for both melanocytic and myogenic markers. Occurrence of PEComa has been reported at various
anatomical sites, including the gynecological tract, uterus being the most common. Although most patients have sporadic PEComas, a subset may
be associated with the inactivation of TSC1 or TSC2 genes and the occurrence of TFE3 gene fusions. However, a relationship between PEComas
and other tumors is rare. We report a 41-year-old female patient with malignant PEComa who was admitted to the hospital with a complaint of
vaginal bleeding. Because she had previously been diagnosed with colorectal and breast carcinomas at an early age, we performed a comprehensive
genetic analysis to identify molecular alterations present in her background that unveiled multiple malignancy predispositions. Next-generation
sequencing (NGS) analysis revealed two heterozygous germline pathogenic variants in the ATM and TP53 genes and a heterozygous variant of
unknown significance (VUS) in the BRCA2 gene. The patient was diagnosed with the Li-Fraumeni Syndrome owing to the medical and family
history and also the presentation of a pathogenic mutation of the TP53 gene. There are very few case reports in the literature describing PEComa
in the Li-Fraumeni syndrome, and this is the first report of a uterine PEComa in a patient with Li-Fraumeni syndrome.
Perivascular epithelioid cell tumor (PEComa) is a family
of tumors originating from a distinct cell type that is
called perivascular epithelioid cells. It has been reported
at a wide variety of anatomical locations, including lungs,
colon, skin, kidney, bladder, and pancreas, and is also
rarely seen in the gynecological tract 1-3
. The recent
World Health Organization (WHO) tumor classification
(2020) defines the perivascular epithelioid cell tumor as “a
member of a family of mesenchymal neoplasms composed
of perivascular epithelioid cells (PECs) that express
melanocytic and smooth muscle markers” 2
Most of the uterine PEComas show benign/uncertain
malignant potential; however aggressive behavior has also
been increasingly reported. Some authors have developed
classifications based on some features of the tumor to
predict outcome in these tumors 2,4-7,8. In 2005, Folpe et
al. analyzed 26 PEComas of the soft tissue and gynecologic
tract and suggested some criteria for the classification
of these tumors as “benign,” “of uncertain malignant
potential,” and “malignant” according to tumor size and
histological findings 4. Schoolmeester et al. have analyzed
16 gynecologic PEComas and suggested a modified gynecologic-specific algorithm 5. They proposed making
a diagnosis of malignant PEComa based on the presence of
at least four of the following features: a size of ≥5 cm, highgrade
atypia (excluding degenerative atypia), mitotic rate
of > 1/50 HPFs, necrosis, and lymphovascular invasion.
Additionally, they suggested reducing the number of
categories from three to two categories, namely “benign/
uncertain malignant potential” and “malignant.” Bennett
et al. analyzed 32 uterine PEComas which constitute the
largest series in the literature so far 7. They proposed that
a threshold of three (as opposed to four) atypical features
more properly classifies a PEComa as malignant. The two
proposed algorithms for stratifying the behavior of uterine
PEComas were included in the latest version of the WHO
tumor classification of female genital tumors (2020) 2.
The tumor group of the PEComa family may be related
to genetic alterations of the tuberous sclerosis complex
(TSC), an autosomal dominant genetic disease due to
loss of function mutations in the TSC1 (9q34) or TSC2
(16p13.3) genes, which play a role in the regulation of the
Rheb/mTOR/p70S6K pathway 1,6,9. TFE3 and RAD51B
gene rearrangements have been also described in a subset
of PEComas 2,6,9,10. Because of the sharing of similar genetic features, it is not surprising that tumors associated
with TSC can be observed in patients with PEComa as well.
However, occurrence of other carcinomas in patients with
PEComa is rare. In this report, we describe histopathological
and immunohistochemical features of malignant uterine
PEComa in a patient who had an early-onset of multiple
malignancies, and a family history of recurring cancers. We
also performed comprehensive genetic analyses to identify
genetic alterations leading to a predisposition to multiple
types of cancer.
A 41-year-old woman presented with a history of irregular
vaginal bleeding for a period of twenty days. She was
diagnosed with multiple cancers including metachronous
bilateral breast cancer and colorectal cancer, at an early
age. At 32 years of age, she was admitted to the hospital
when she found a palpable painless mass in her left breast;
she was diagnosed with an invasive carcinoma of no
special type (ER positive/PR positive/ HER2 negative).
Afterwards, she underwent a left segmental mastectomy
and was treated with chemotherapy and radiotherapy for 2
years. Three years later, at 35 years of age, she was admitted
to the hospital with a complaint of rectal bleeding that had
continued for a duration of 4 months. She was diagnosed
with colorectal well-differentiated adenocarcinoma and underwent low anterior resection (pT2N0). Furthermore, at
38 years of age, another mass was found on her right breast
on the follow-up mammography; she was diagnosed with
an invasive carcinoma of no special type (ER negative/PR
negative/ HER2 positive). She underwent a right segmental
mastectomy and axillary dissection (pT1C
During another follow-up examination, a uterine mass
was determined at the corpus posterior and was thought
to be leiomyoma on the transabdominal ultrasonography.
Magnetic resonance imaging confirmed a 6.3 x 6 cm mass
originating from the left side of the uterus and a nearly
two-fold increase in the size of the mass compared to ten
months prior. Due to the the rapid growth of the mass, she
underwent a total abdominal hysterectomy and bilateral
Histopathologic, Immunophenotypic, and Molecular
Macroscopically, the uterus was measured as 10 x 7.5 x 7.4
cm and there was a nodular, smooth-bordered, intramural
mass arising from the left side of the uterine corpus. The
dimensions of the mass were 5 x 4.8 x 4.5 cm. The cut surface
of the mass was solid and gray-white in color, and several
foci of hemorrhage and necrosis were present (Figure 1A).
Microscopically, the mass had an expansile border and
consisted of single, discohesive atypical epithelioid cells.
Cellularity was moderate, and there was a trace amount of intervening and focal hyalinized stroma which was rich
in lymphocytes, plasma cells, and thin- and thick-walled
blood vessels. Areas of necrosis constituted less than 50%
of the tumor. The tumor cells had distinct atypical features
characterized by a large size, pleomorphic shape, and an
eosinophilic/pale granular cytoplasm with macronuclei.
There were many binucleated and multinucleated tumor
cells. Most tumor cells had large, inclusion-like eosinophilic
nucleoli similar to melanoma cells. Some of the cells had
large intranuclear pseudoinclusions (Figure 1B-D). The
mitotic count was 15 mitoses/50 HPFs. Lymphovascular
invasion was detected. There was a brown-black melanin
pigment within the histiocytes.
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|Figure 1: Macroscopic appearance of tumor (A). Tumor was composed of discohesive atypical epithelioid cells with inclusion-like
eosinophilic nucleoli (B, C), binucleated and multinucleated atypical cells (D). Tumor cells expressed HMB-45 (E) and Melan A (F).
Immunohistochemically, the tumor cells were focally
positive for HMB-45 (HMB45, Ventana) (Figure 1E),
Melan-A (A103, Ventana) (Figure 1F), TFE-3 (MRQ-37,
Cell Marque), vimentin (V9, Ventana), SMA (1A4, Cell
Marque), desmin (DE-R-11, Ventana), caldesmon (E89,
Cell Marque), CD-68 (Kp-1, Cell Marque), and progesterone
receptor (1E2, Ventana). The tumor cells were negative for
cytokeratin (AE1/AE3/PCK26, Ventana), S100 (Ventana),
SOX-10 (SP267, Cell Marque), estrogen receptor (Sp1,
Ventana), CD10 (EP195, BioSB), GATA-3 (L50-823, Cell
Marque), CD61 (2f2, Cell Marque), CD117 (9.7, Ventana),
CD45 (RP2/18, Ventana), and cyclin D1 (SP4, Ventana).
The Ki67 (GM010, Genemed) index was 30%. The
endometrium, cervix, both ovaries and fallopian tubes were
tumor-free. However, multiple “p53 (Bp53.11, Ventana)
signature” foci were identified in both fimbrial epithelia
(Figure 2A-C). The tumor was diagnosed as PEComa
based on histopathological and immunohistochemical
findings. The tumor was categorized as malignant due to
its possessing all the atypical criteria according to WHO
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|Figure 2: p53 signature of fimbrial epithelium of tuba uterina. Strong nuclear p53 staining in more than 12 cells of fimbrial epithelia at
low power (A), and high power (B), and appearance of the same fimbrial epithelia at hematoxylin-eosin stained section (C).
Because the patient had a diagnosis of early-onset bilateral
breast cancer, colorectal cancer, and the presence of the
“p53 signature” in the tubal fimbrial epithelium, genetic
testing for germline BRCA1-BRCA2 mutations (BRCA
MASTR Plus Dx; Multiplicom, Niel, Belgiumand) with a
comprehensive hereditary cancer panel (Qiagen, Hilden,
Germany) was performed. Next-Generation Sequencing
(NGS) (Illumina, San Diego, CA, USA) analyses with Comprehensive
Hereditary Genes Panel (including ABRAXAS1,
AIP, APC, ATM, ATR, AXIN2, BAP1, BARD1, BLM, BMPR1A,
BRIP1, BUB1B, CDH1, CDK4, CDKN2A, CHEK2,
CTNNA1, EPCAM, FANCC, FLCN, GALNT12, GEN1,
GPC3, GREM1, HOXB13, MEN1, MET, MLH1, MRE11,
MSH2, MSH6, MUTYH, NBN, NTHL1, PALB2, PALLD,
PIK3CA, PMS1, PMS2, POLD1, POLE, PRSS1, PTCH1,
PTEN, RAD50, RAD51B, RAD51C, RAD51D, RINT1,
SDHB, SDHC, SDHD, SMAD4, SMARCA4, STK11, TP53,
VHL, XRCC2, RET, TSC1, TSC2 genes) and germline Multiplex
Ligation Probe Amplification (MLPA) analyses for
both BRCA1 and BRCA2 genes were performed with patient’s
blood. NGS analysis revealed 2 heterozygous germline
pathogenic variants in the ATM (Figure 3A) and TP53
(Figure 3B) genes, and a heterozygous variant of unknown
significance (VUS) in the BRCA2 gene (Figure 3C). The
first variant was localized in the ATM, namely NM_00005
in exon 40, and the second one was localized in
TP53, namely NM_001126112.2(TP53):c.700T>C
(p.Tyr234His) in exon 7. BRCA2 gene analysis revealed
in the exon 25. Both ATM:c.5979_5983delTAAAG
(p.Ser1993ArgfsTer23) (rs876660134, Clinvar Accession:
RCV000219008.5) and NM_001126112.2(TP53):c.700T>C
(p.Tyr234His) (rs864622237, RCV000492782.1) are known
pathogenic variants for hereditary cancer syndromes
11,12. Germline pathogenic mutations of TSC1 or TSC2
genes were not detected.
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|Figure 3: Next-Generation Sequencing analysis revealed a heterozygous 5-bp deletion resulting in a frameshift mutation and a premature
stop codon in the ATM gene (A), a heterozygous missense mutation in the TP53 gene (B), and a missense variant classified as Variant of
Unknown Significance (VUS) in the BRCA2 gene (C). Sanger sequencing analysis also confirmed both mutations. The family pedigree
of the patient (D).
Because the patient had metachronous early-onset multiple
cancers and also had germline pathogenic mutations of
ATM and TP53 genes, a detailed family medical history
was analyzed by a clinical geneticist. In the family history,
her four-year-old daughter had died because of embryonal
rhabdomyosarcoma. We learned that some of the other
family members of the patient also had cancer diagnoses.
The family pedigree of the patient was investigated and
shown in Figure 3D. The patient was diagnosed with the
Li-Fraumeni Syndrome owing to the personal and family
history and also the presentation of a pathogenic mutation
of the TP53 gene. She has been followed for two years
after the PEComa diagnosis and there was no evidence of
recurrence or metastasis.
Perivascular epithelioid cell tumors are rarely seen in
gynecological organs, and the uterus is the most common
site of involvement 2,6,13
. Although most patients had
sporadic PEComas, a subset of PEComas (~10%) may be
seen within TSC. The most common genetic alterations in
sporadic and hereditary PEComas demonstrate inactivation
of the TSC2 (16p13.3) and the TSC1 (9q34) genes. These
genes are inactivated, and then subsequently activated
by the mammalian target of the rapamycin (mTOR)
pathway, providing a potential focus for targetable therapy
. The gene rearrangement of the MIT/TFE family
of transcription factors member TFE3 (chromosome
Xp11.23) has been reported in a small minority of PEComas, including SFPQ/PSF-TFE3 fusion and DVL2-
TFE3 fusion 14,15
. TFE3-related PEComas share similar
histopathological features, such as epithelioid appearances,
alveolar or nested growing patterns, and low nuclear
. RAD51B (14q24) translocation, related
to RAD51B-RRAGB or RAD51B-OPHN1 gene fusions,
was demonstrated in three uterine PEComa patients 10
Zhang et al. found the most frequent somatic mutations
in ATM, BRCA2, and APC other than the TSC genes in
patients with pulmonary lymphangioleiomyomatosis
. Bing et al. studied p53 expression and gene mutation
in pure epithelioid PEComas from the kidneys, heart,
liver, and uterus. They found greater p53 expression and
mutation in epithelioid angiomyolipomas 18
. In a recent
study, Akumulla et al. analyzed comprehensive genomic
profiling of 31 metastatic PEComas and they detected a
total of 100 genomic alterations tumor samples of the series
of patients. The genes most commonly altered in that study
were TP53 (45.2%), TSC2 (32.3%), RB1 (25.8%), CDKN2A
(19.3%), TFE3 (16.1%), ATRX (9.6%), TSC1 (9.6%), and
CD36, FLCN, NF1 and SMARCB1 (6.4%, each). TFE3
rearrangements have also been identified in 16% of the
Our patient had all of the histopathological criteria of the
modified gynecologic-specific algorithm and was reported
as malignant PEComa. The patient had no TSC1/TSC2
and RAD51B mutations and no clinical TSC findings
either. We detected focally TFE3 positivity as per the
immunohistochemical protocol (an automatic protocol)
that may reveal TFE3 translocation-associated PEComas.
However, we did not confirm this by either FISH or RTPCR.
We found germline pathogenic mutations in ATM
and TP53 genes and a variant of unknown significance
in the BRCA2 gene, which is clarified by the multiple
carcinogenesis background of the patient and indicated in
hereditary cancer syndromes, particularly the Li-Fraumeni
The Li-Fraumeni Syndrome (LFS) is a hereditary cancer
syndrome associated with germline pathogenic mutations
of the TP53 tumor suppressor gene. A wide spectrum of
tumors including soft tissue sarcomas, osteosarcomas,
early-onset breast cancers, brain tumors, colon cancer,
gastric cancer, leukemia, and adrenocortical carcinomas
has been associated with this syndrome 20. Classical
LFS is diagnosed when a patient has all of the following
three criteria; a sarcoma diagnosed before 45 years of age,
a first-degree relative with any cancer diagnosed before
45 years of age, a first- or second-degree relative with any cancer diagnosed before 45 years of age or a sarcoma
diagnosed at any age 20,21. Tumors seen in the patient’s
family members including premenopausal breast cancer,
embryonal rhabdomyosarcoma, and tumors of the central
nervous system are well-defined cancer types in LFS.
Because our patient had all of these criteria in addition to a
mutant TP53 gene, she was diagnosed with LFS. PEComas
located in various sites have also been described in LFS/
TP53 mutation carriers. Neofytou et al. described two
synchronous primary PEComa of the liver and the right
kidney in a 24-year-old patient with LFS 22. Galera López
et al. reported a simultaneous diagnosis of PEComa of the
liver in two siblings with an LFS 23. Butz et al. reported
a malignant, metastatic PEComa of the thigh muscle
harboring a novel TP53 germline splice mutation in an
attenuated LFS patient 24. Our case is the first uterine
PEComa with related LFS.
Biallelic germline mutations of the ATM gene are associated
with the autosomal recessive ataxia-telangiectasia
syndrome, characterized by cerebellar degeneration, telangiectasia,
immunodeficiency, cancer susceptibility, and radiation
sensitivity 25. Carriers of monoallelic pathogenic
germline mutations of the ATM gene have also been related
with varied tumor predisposition, particularly lymphomas
and leukemia 26,27. Some tumors that are seen in the
patient’s family may be associated with carrying an additional
mutant ATM gene over the mutant TP53 gene. However,
the patient does not have any neurological symptoms
such as ataxia, dysarthria, and postural instability; or other
symptoms of the ataxia-telangiectasia syndrome.
Uterine PEComas are very rare tumors and can be associated
with syndromes, particularly TSC. Rarely, PEComas may
be related to hereditary cancer syndromes other than
TSC, and these patients may have other malignancies that
have specific gene mutations such as TP53. It is important
to make a true diagnosis of PEComa for the patient and
to screen the family for possible cancers. With respect to
family history, genetic analyses and counseling can be
helpful for the family’s future assessments.
Conflict of Interest
The authors declare no conflict of interest.
Concept: SÇ, MK, Design: SÇ, MK, Data collection or processing:
SÇ, ÖSA, SG, Analysis or Interpretation: SÇ, MK, ÖSA, Literature
search: SÇ, MK, SG, Writing: SÇ, MK, Approval: SÇ, MK.
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