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Target therapy for metastatic colorectal cancer needs the determination of KRAS, NRAS, and BRAF mutation status to identify patients resistant to anti-EGFR treatment. RAS genes (KRAS/NRAS) are mutated in 40-60% of metastatic colorectal cancer and BRAF in 5-10%. The presence of a double mutation in RAS and BRAF is rare. Therefore, RAS and BRAF mutations were considered exclusive. Herein, we describe a novel concomitant NRAS/BRAF mutation identified in a series of 865 colorectal cancer patients.
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Neoplasias do Colo , Neoplasias Colorretais , Neoplasias Retais , Humanos , Proteínas Proto-Oncogênicas B-raf/genética , Neoplasias Colorretais/tratamento farmacológico , Neoplasias Colorretais/genética , Neoplasias Colorretais/patologia , Proteínas Proto-Oncogênicas p21(ras)/genética , GTP Fosfo-Hidrolases/genética , Mutação , Proteínas de Membrana/genéticaRESUMO
Sex cord tumor with annular tubules (SCTAT) is a rare ovarian tumor. It belongs to sex cord and stromal tumor of the ovary and represents less than 1% of cases. It includes two forms: the first one associated with Peuz-Jeghers syndrome and the second sporadic. We report 4 cases of SCTAT collected at the department of pathology of Salah Azaiez Institute of Tunis over the 12 last years. The age ranged from 10 to 32 years. Symptoms were non specific except for one case revealed by precocious puberty. One patient had Peutz-Jeghers syndrome associated. Tumors were unilateral. Gross findings showed often a solid tumor with yellow cut surface. Their size ranged from 0.5cm to 28cm. Their morphological features were characteristic. Immunohistochemistry showed that tumor cells expressed inhibin and claretinin. The treatment was surgical, often conservative. The diagnosis of malignancy wasn't focused on histological features, but on tumor extension, clinical course, and presence of metastases. Evolution was often favorable. We also performed a systematic review of the literature that identified 166 cases. Features of these cases were studied. We also compared these features between sporadic and syndromic forms and between benign and malignant forms. In conclusion, SCTAT is a rare tumor, usually benign. Its diagnosis is based on histological examination. There is a malignant potential especially in sporadic forms, estimated at 20%. Treatment is most often conservative, based on oophorectomy.
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Neoplasias Ovarianas , Síndrome de Peutz-Jeghers , Tumores do Estroma Gonadal e dos Cordões Sexuais , Feminino , Humanos , Criança , Adolescente , Adulto Jovem , Adulto , Tumores do Estroma Gonadal e dos Cordões Sexuais/diagnóstico , Tumores do Estroma Gonadal e dos Cordões Sexuais/cirurgia , Neoplasias Ovarianas/diagnóstico , Neoplasias Ovarianas/cirurgia , Neoplasias Ovarianas/patologia , Síndrome de Peutz-Jeghers/patologia , Ovariectomia , InibinasRESUMO
Langerhans cell histiocytosis (LCH) is a rare disorder of unknown etiopathogenesis. Diagnosis is based on the identification of CD1a positive histiocytic infiltrate. Activation of the mitogen-activated-protein-kinase (MAPK) is constantly observed in LCH and therefore downstream markers such as cyclin D1 may be a useful marker for LCH. The aim of this study was to investigate the expression of cyclin D1 in LCH. We assessed the immunohistochemical expression of cyclin D1 (clone SP4-R) in series of 16 cases of confirmed LCH. Expression of Cyclin D1 was scored as weak, moderate, and strong nuclear staining and results were interpreted by two pathologists. The percentage of positivity was assessed. The mean age of patients was 13.7 years old with a male to female ratio of 1:3. The most common involved site was bone (n = 9; 56,3%), followed by lymph node (n = 5; 31,2%) and skin (n = 2; 12,5%). All cases showed nuclear staining for cyclin D1 with variable intensity. It was assessed moderate in 43,8% (n = 7) and strong in 56,2% (n = 9). The percentage of positive cells was >50% in 13 cases and <50% in 3 cases. Our results have shown that all cases of Langerhans cell histiocytosis from various sites express cyclin D1. This finding may be attributed to MAPK pathway activation that has been described in LCH. Otherwise, cyclin D1 is not significantly expressed in reactive Langerhans cell proliferations. Therefore, cyclin D1 immunohistochemistry may be useful as a diagnostic marker and in excluding non-neoplastic mimics of LCH.
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Ciclina D1/análise , Histiocitose de Células de Langerhans/diagnóstico , Adolescente , Biomarcadores/análise , Ciclina D1/imunologia , Feminino , Histiocitose de Células de Langerhans/imunologia , Humanos , Imuno-Histoquímica , Masculino , Estudos RetrospectivosRESUMO
PURPOSE: Lamin A is a major component of the nuclear lamina maintaining nuclear integrity, regulation of gene expression, cell proliferation, and apoptosis. Its deregulation in cancer has been recently reported to be associated with its prognosis. However, its clinical significance in non-muscle invasive bladder cancer (NMIBC) remains to be defined. MATERIAL/METHODS: Immunohistochemical staining and RT-qPCR were performed to screen the expression patterns of Lamin A/C protein and Lamin A mRNA respectively in 58 high and low grade NMIBC specimens. RESULTS: Lamin A/C protein was expressed only in the nucleus and less exhibited in NMIBC tissues compared to non-tumoral ones. On the other side, Lamin A mRNA was up-regulated in NMIBC compared to controls. Nevertheless, both expression patterns (protein and mRNA) were not correlated to clinical prognosis factors and were not able to predict the overall survival of patients with high-grade NMIBC. CONCLUSIONS: The deregulation of A-type Lamin is not associated with the prognosis of NMIBC, but it could serve as a diagnostic biomarker distinguishing NMIBC patients from healthy subjects suggesting its involvement as an initiator event of tumorigenesis in our cohort.
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Laminas/metabolismo , Invasividade Neoplásica/genética , Invasividade Neoplásica/patologia , Recidiva Local de Neoplasia/genética , Neoplasias da Bexiga Urinária , Biomarcadores Tumorais/metabolismo , Feminino , Regulação Neoplásica da Expressão Gênica/genética , Humanos , Laminas/genética , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/diagnóstico , Recidiva Local de Neoplasia/patologia , Prognóstico , RNA Mensageiro/genética , Neoplasias da Bexiga Urinária/diagnóstico , Neoplasias da Bexiga Urinária/genética , Neoplasias da Bexiga Urinária/metabolismoRESUMO
Endometrial cancer is the most prevalent genital tract cancer in occident and the third most common cancer among women in Tunisia. It is dominated by carcinoma. The identification of prognostic factors allows a better understanding of its outcome and guides its therapeutic approach. We propose to describe the clinicopathological features and identify the histoprognostic factors of this cancer. It is a retrospective analysis of a series of 62 total hysterectomy specimens with bilateral salpingo-oophorectomy from women with primary carcinoma of the endometrium, colligated in Anatomy Laboratory and Pathology Salah Azaiz Institute of Tunis over a period of 5 years, from January 2003 to December 2007. The median age was 60 years. At the time of diagnosis, 25% of patients were nulliparous and 86% were menopaused. The endometrioid adenocarcinoma was the most common, accounting for 84% of cases (5% of them were grade 3). A myometrial invasion superior or equal to 50% was observed in 40% of cases. 42% of cases were classified as stage IA, 14% in stage IB, 16% in stage II, 18% stage III and 10% in stage IV. 22% of patients had nodal involvement. Overall survival at 5 years was 81%. In multivariate analysis, stage IV, nodal involvement and brachytherapy have influenced this rate. Event-free survival at 5 years was 71%. It was directly related to stage and nodal involvement. Stage, histological type, tumor grade, invasion of more than half of the myometrium and lymph node involvement were the most important adverse prognostic factors, dictating an appropriate management of these tumors.
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Carcinoma Endometrioide/patologia , Neoplasias do Endométrio/patologia , Idoso , Antineoplásicos Hormonais/efeitos adversos , Neoplasias da Mama/tratamento farmacológico , Neoplasias da Mama/epidemiologia , Carcinoma Endometrioide/epidemiologia , Carcinoma Endometrioide/cirurgia , Neoplasias do Endométrio/epidemiologia , Neoplasias do Endométrio/cirurgia , Feminino , Humanos , Histerectomia , Estimativa de Kaplan-Meier , Excisão de Linfonodo , Metástase Linfática , Mesenquimoma/epidemiologia , Mesenquimoma/patologia , Mesenquimoma/cirurgia , Pessoa de Meia-Idade , Miométrio/patologia , Invasividade Neoplásica , Segunda Neoplasia Primária/induzido quimicamente , Segunda Neoplasia Primária/epidemiologia , Segunda Neoplasia Primária/patologia , Omento/cirurgia , Prognóstico , Estudos Retrospectivos , Fatores de Risco , Tamoxifeno/efeitos adversos , Tunísia/epidemiologiaRESUMO
BACKGROUND: Nephroblastoma is the most common childhood abdominal malignancy. Many studies allowed a better understanding of prognostic factors and they permitted to adapt treatment according to a risk stratification approach. AIM: To assess the most significant factors influencing the survival of patients presenting nephroblastoma. METHODS: We conducted a retrospective study over a 10-year period between 2001 and 2010 including 42 nephrectomy specimens, assessed in the pathology department of Salah Azaiz Institute, from all children diagnosed with nephroblastoma. The tumors were subdivided into histological subtypes and histological risk groups according to the SIOP-2001 classification. Statistical analyses were performed using the Kaplan-Meir and the Cox regression methods. RESULTS: The median age was 38 months. The mixed type was the most common (40% of cases). The tumors were subdivided into intermediate histological risk group (81%) and high risk group (14%). The tumors were classified as stage I (38%), stage II (24%), stage III (9%), stage IV (17%) and stage V (12%). The four-year survival rate was 83% and the event free survival rate was 85%. Age, laterality, histological risk group, tumor volume, blastema volume, stage, capsular rupture and incomplete resection had a significant impact on survival. Predictive factors of relapse were: laterality, tumor volume, blastema volume, histological risk group, stage, capsular rupture and incomplete resection. CONCLUSION: Histological type and stage were identified as the most important prognostic factors in nephroblastoma. Further large studies are needed to establish the impact of absolute blastemal volume.
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Neoplasias Renais/diagnóstico , Neoplasias Renais/epidemiologia , Tumor de Wilms/diagnóstico , Tumor de Wilms/epidemiologia , Adolescente , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Humanos , Lactente , Neoplasias Renais/patologia , Neoplasias Renais/terapia , Masculino , Recidiva Local de Neoplasia/diagnóstico , Recidiva Local de Neoplasia/epidemiologia , Recidiva Local de Neoplasia/terapia , Estadiamento de Neoplasias , Prognóstico , Radioterapia Adjuvante , Estudos Retrospectivos , Fatores de Risco , Taxa de Sobrevida , Tunísia/epidemiologia , Tumor de Wilms/patologia , Tumor de Wilms/terapiaRESUMO
Epithelial ovarian cancer (EOC) is the most lethal gynecological cancer. Identification of new therapeutic targets is crucial. MARCKS, myristoylated alanine-rich C-kinase substrate, has been implicated in aggressiveness of several cancers and MARCKS inhibitors are in development. Using immunohistochemistry (IHC), we retrospectively assessed MARCKS expression in epithelial and stromal cells of 118 pre-chemotherapy EOC samples and 40 normal ovarian samples from patients treated at Salah Azaiez Institute. We compared MARCKS expression in normal versus cancer samples, and searched for correlations with clinicopathological features, including overall survival (OS). Seventy-five percent of normal samples showed positive epithelial MARCKS staining versus 50% of tumor samples (p = 6.02 × 10-3). By contrast, stromal MARCKS expression was more frequent in tumor samples (77%) than in normal samples (22%; p = 1.41 × 10-9). There was no correlation between epithelial and stromal IHC MARCKS statutes and prognostic clinicopathological features. Stromal MARCKS expression was correlated with shorter poor OS in uni- and multivariate analyses. Stromal MARCKS overexpression in tumors might contribute to cancer-associated fibroblasts activation and to the poor prognosis of EOC, suggesting a potential therapeutic interest of MARCKS inhibition for targeting the cooperative tumor stroma.
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Substrato Quinase C Rico em Alanina Miristoilada/metabolismo , Neoplasias Ovarianas/metabolismo , Neoplasias Ovarianas/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Carcinoma Epitelial do Ovário , Linhagem Celular Tumoral , Feminino , Humanos , Pessoa de Meia-Idade , Análise Multivariada , Neoplasias Epiteliais e Glandulares/metabolismo , Neoplasias Epiteliais e Glandulares/patologia , Prognóstico , Células Estromais/metabolismo , Análise de SobrevidaRESUMO
Background Extracranial Germ cell tumors (GCT) are a rare and a heterogeneous group of pediatric cancers but highly curable. Aim We aimed to review management, outcome and prognostic factors that influence overall survival (OS) in a pediatric Tunisian oncologic unit. Methods We retrospectively evaluated between January 1998 and December 2012, 33 patients affected by extracranial germ cell tumors and treated according to TGM95 protocol established by the SFOPin a pediatric Tunisian oncologic unit. Results Patients had a mean age of 57 months (ranges: 1 day-13 years). There were 19 girls and 14 boys. Primary sites included 12 sacrococcygeal, 11 ovarian, 6 testicular, 3retro peritoneal and 1 mediastinal site. After a mean follow up of 26.1 months (ranges: 0-96 months), OSat 2 years and 5 years were respectively 82% and 75%. Event-free survival were respectively 79% at 2 years and 74% at 5 years. Various prognostic factors have been studied according to Kaplan-Meier. Univariate analyses identified significant factors which influence strongly OS: the stage (p=0.04), the completeness of surgery (p<0.001) and the relapse (p = 0, 0001). A multivariate study showed that only the quality of resection and the clinical stage remained strong significant prognostic factors (p=0,021) for 5-year OS. Conclusion Disease stage, completeness of surgery and relapse have been established as the most powerful prognostic parameter in our analysis. The improvement of survival of patients affected by extracranial germ cell tumors in Tunisia is a real achievement mainly due to the success of salvage treatments.
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Neoplasias Embrionárias de Células Germinativas/patologia , Terapia de Salvação/métodos , Adolescente , Criança , Pré-Escolar , Intervalo Livre de Doença , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Estimativa de Kaplan-Meier , Masculino , Análise Multivariada , Recidiva Local de Neoplasia , Estadiamento de Neoplasias , Neoplasias Embrionárias de Células Germinativas/epidemiologia , Neoplasias Embrionárias de Células Germinativas/cirurgia , Prognóstico , Estudos Retrospectivos , Taxa de Sobrevida , Tunísia/epidemiologiaRESUMO
Inflammatory Breast Cancer (IBC) is a rare and aggressive form of locally advanced breast cancer, classified as stage T4d according to the tumor-node-metastasis staging criteria. This subtype of breast cancer is known for its rapid progression and significantly lower survival rates compared to other forms of breast cancer. Despite its distinctive clinical features outlined by the World Health Organization, the histopathological characteristics of IBC remain not fully elucidated, presenting challenges in its diagnosis and treatment. Histologically, IBC tumors often exhibit a ductal phenotype, characterized by emboli composed of pleomorphic cells with a high nuclear grade. These emboli are predominantly found in the papillary and reticular dermis of the skin overlaying the breast, suggesting a primary involvement of the lymphatic vessels. The tumor microenvironment in IBC is a complex network involving various cells such as macrophages, monocytes, and predominantly T CD8+ lymphocytes, and elements including blood vessels and extracellular matrix molecules, which play a pivotal role in the aggressive nature of IBC. A significant aspect of IBC is the frequent loss of expression of hormone receptors like estrogen and progesterone receptors, a phenomenon that is still under active investigation. Moreover, the overexpression of ERBB2/HER2 and TP53 in IBC cases is a topic of ongoing debate, with studies indicating a higher prevalence in IBC compared to non-inflammatory breast cancer. This overview seeks to provide a comprehensive understanding of the histopathological features and diagnostic approaches to IBC, emphasizing the critical areas that require further research.
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Neoplasias da Mama , Neoplasias Inflamatórias Mamárias , Humanos , Feminino , Neoplasias Inflamatórias Mamárias/metabolismo , Neoplasias Inflamatórias Mamárias/patologia , Neoplasias da Mama/metabolismo , Neoplasias da Mama/patologia , Microambiente TumoralRESUMO
INTRODUCTION: Ovarian steroid cell tumors not otherwise specified (OSCT-NOS) are extremely rare ovarian sex cord stromal tumors, accounting for <0.1 % of all ovarian tumors. In 25 % of cases, they are asymptomatic leading to a delay in diagnosis. We, herein, report a singular case of OSCT-NOS diagnosed incidentally during the spread assessment of an invasive breast carcinoma of no special type (IBC-NOS). To the best of our knowledge, this is the first reported case of co-occurrence of OSCT-NOS and IBC-NOS. We aim to study the clinic-pathological characteristics of this rare tumor. CASE PRESENTATION: A 56-years old postmenopausal female, with no previous medical history, was diagnosed with an invasive IBC-NOS. The tomography performed during the spread assessment of IBC-NOS showed a suspicious mass of the right ovary. Pelvic MRI revealed an ovarian solid T1 isointense and T2 hyperintense mass. The first evoked diagnosis was an ovarian metastasis of the IBC-NOS. The patient underwent bilateral salpingo-oophorectomy. On gross examination, an ovarian solid mass measuring 2,5x2cm, with a firm gray yellowish cut surface was noted. Microscopic examination and immunostaining concluded to OSCT-NOS and ruled out the diagnosis of an ovarian metastasis of IBC-NOS. CONCLUSION: OSCT-NOS are rare neoplasms. Their diagnosis might be challenging especially in absence of hormonal symptoms. A better knowledge of this rare entities would enable early diagnosis.
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Introduction: Immunotherapy by blocking immune checkpoints programmed death/ligand (PD1/PDL1) and cytotoxic T-lymphocyte-associated protein 4(CTLA4) has emerged as new therapeutic targets in cancer. However, their efficacy has been limited due to resistance. A new- checkpoint V-domain Ig-containing suppressor of T cell activation (VISTA) has appeared, but the use of its inhibition effect in combination with antibodies targeting PDL1/PD1and CTLA4 has not been reported in ovarian cancer. Methods: In this study, we investigated the expressions of VISTA, CTLA4, and PDL1 using immunohistochemistry (IHC)on 135 Formalin-Fixed Paraffin-Embedded (FFPE)tissue samples of High-grade serous carcinoma (HGSOC). VISTA, CTLA4, PDL1, PD1, CD8, CD4, and FOXP3 mRNA extracted from 429 patients with ovarian cancer in the Cancer Genome Atlas (TCGA) database was included as a validation cohort. Correlations between these checkpoints, tumor-infiltrating- lymphocytes (TILs), and survival were analyzed. Results and discussion: CTLA4 was detectable in 87.3% of samples, VISTA in 64.7%, PD1 in 56.7%, and PDL1 in 48.1%. PDL1 was the only tested protein associated with an advanced stage (p=0.05). VISTA was associated with PDL1, PD1, and CTLA4 expressions (p=0.005, p=0.001, p=0.008, respectively), consistent with mRNA level analysis from the TCGA database. Univariate analyses showed only VISTA expression (p=0.04) correlated with overall survival (OS). Multivariate analyses showed that VISTA expression (p=0.01) and the coexpression of VISTA+/CTLA4+/PD1+ (p=0.05) were associated with better OS independently of the clinicopathological features. Kaplan-Meier analysis showed that the coexpression of the VISTA+/CTLA4+/PDL1+ and VISTA+/CTLA4+/PD1+ checkpoints on tumor cells (TCs)were associated with OS (p=0.02 and p<0.001; respectively). VISTA+/CTLA4+/PD1+ in TCs and CD4+/CD8+TILswere associated with better 2-yer OS. This correlation may refer to the role of VISTA as a receptor in the TCs and not in the immune cells. Thus, targeting combination therapy blocking VISTA, CTLA4, and PD1 could be a novel and attractive strategy for HGSOC treatment, considering the ambivalent role of VISTA in the HGSOC tumor cells.
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Linfoma Anaplásico de Células Grandes/mortalidade , Adolescente , Adulto , Fatores Etários , Intervalo Livre de Doença , Feminino , Humanos , Linfoma Anaplásico de Células Grandes/sangue , Linfoma Anaplásico de Células Grandes/terapia , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Fatores de Risco , Fatores Sexuais , Taxa de SobrevidaRESUMO
Through this case presentation and a review of the literature, we aim to describe clinical and pathologic features and to distinguish the outcome of these tumors. A 25-year-old woman presented with pelvic pain and an iliac mass. Workup revealed a 53-mm cystic partitioned mass of the left ovary infiltrating the left sacrum. She underwent a left adnexectomy. Gross examination revealed a ruptured ovarian mass. When dissected, it showed grayish cerebroid aspects. Histologic examination revealed a malignant tumor proliferation of the diffuse large cells. An immunohistochemical analysis showed negative results for PLAP, αFP, ßHCG, CD117, CK20, and CD30. It also showed lack of B markers and T marker (CD3) and an expression of CD138 and anaplastic lymphoma kinase. The patient was treated by 6 cycles of CHOP chemotherapy and a pelvic radiotherapy. She presented with a 15-cm splenomegaly 26 months later and died of febrile neutropenia. Most patients follow an aggressive disease and are unlikely to respond to the standard.
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Biomarcadores Tumorais/metabolismo , Linfoma de Células B/patologia , Linfoma Difuso de Grandes Células B/patologia , Receptores Proteína Tirosina Quinases/metabolismo , Adulto , Quinase do Linfoma Anaplásico , Protocolos de Quimioterapia Combinada Antineoplásica/administração & dosagem , Diferenciação Celular , Ciclofosfamida/administração & dosagem , Diagnóstico Diferencial , Doxorrubicina/administração & dosagem , Evolução Fatal , Feminino , Humanos , Imuno-Histoquímica , Linfoma Difuso de Grandes Células B/tratamento farmacológico , Linfoma Difuso de Grandes Células B/cirurgia , Prednisona/administração & dosagem , Vincristina/administração & dosagemRESUMO
Introduction: Follicular dendritic cell sarcomas (FDCS) are rare tumours, typically seen in lymph nodes. However, in about one third of the reported cases, a FDCS presents as an extranodal mass. Involvement of the gastrointestinal tract is rare, and the stomach is even rarer with only four cases described to date. The aim of this study was to review clinical characteristics, pathologic features, emphasize on differential diagnosis and discuss therapeutic modalities and prognosis of this rare entity.Case presentation: We report on a 36-year-old female patient with no past medical history, an incidentally discovered FDCS located in the stomach with the presence of lymph node metastasis at the time of diagnosis. The diagnosis of a FDCS was made on morphological and immunohistochemical findings where tumor cells expressed CD21 and CD23. The tumor was resected by gastrectomy with extended para-aortic lymphadenectomy, with uneventful postoperative course.Conclusions: Due to its rarity, FDCS is rarely included in the differential diagnosis of gastrointestinal spindle cell tumors. Complete surgical resection is the current gold standard of treatment.
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Introduction: Primary cutaneous CD8+ acral T-cell lymphoproliferative disorder (CD8+ ATCLPD) is a rare form of cutaneous T-cell lymphoma that commonly presents on the acral regions of the body. We report a case of a 61-year-old man diagnosed with primary cutaneous CD8+ ATCLPD of the ear. Case presentation: A 61-year-old man presented with a non-healing, erythematous painful macule on the ear that had been evolving for the past 3 months. The lesion was resected, and histopathological examination revealed a primary cutaneous CD8+ ATCLPD with acral localization. Further investigations including CT scan of the thorax, abdomen and pelvis were done to stage the disease. The results showed no extracutaneous involvement. Conclusion: Accurate identification of primary cutaneous CD8+ ATCLPD is crucial due to its distinct prognostic and therapeutic implications compared to other CD8+ cytotoxic lymphoid proliferations. Primary cutaneous CD8+ ATCLPD can be treated conservatively and typically follows a slow clinical course, regardless of the treatment method. Understanding the clinical context, as well as the morphological and immunophenotypic characteristics, can assist in making a precise diagnosis.
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INTRODUCTION AND IMPORTANCE: Malignant transformation within mature cystic teratomas is a rare occurrence, with an estimated risk ranging from 0.17 % to 2 %. Squamous cell carcinoma is the most common malignancy associated with this condition, while papillary thyroid carcinoma rarely presents within ovarian teratomas. This transformation predominantly affects postmenopausal women but can, albeit rarely, manifest in younger women. CASE PRESENTATION: We present a case of a 37-year-old woman who was incidentally found to have a right ovarian cyst measuring 20 × 20 × 10 mm during a cesarean section, displaying characteristic features of a teratoma. Histological examination confirmed the presence of papillary thyroid carcinoma originating within the ovarian mature cystic teratoma. Immunohistochemical analysis demonstrated positive staining for specific thyroid differentiation markers, including TTF1 and Thyroglobulin. The patient was in good health otherwise, with normal clinical and radiological evaluations of the thyroid, and no additional treatment was administered. Currently, seven years after surgery, the patient remains free of recurrence. DISCUSSION/CONCLUSION: Given the rarity of this condition, established treatment protocols are lacking, and its histogenesis remains uncertain. To advance our understanding of pathogenesis, prognosis, and therapeutic strategies for this malignant transformation, the publication of additional cases with similar presentations would be highly valuable.
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INTRODUCTION AND IMPORTANCE: Cervical localization of uterine tumor resembling an ovarian sex cord tumor is very rare (UTROSCT) and this is the third case reported in the English literature. Given its rarity, the diagnosis is frequently challenging. Our aim was to discuss pathological characteristics and treatment choices of this rare disease happening in a rare location. CASE PRESENTATION: Our case interested a 19-year-old female patient who presented with a lower abdominal pain and irregular menstrual cycles for a duration of two months. Gynecological examination revealed a cervical firm mass. The patient underwent a cervical lumpectomy. Microscopically, the tumor had nested and trabecular/cord patterns. Tumor cells had abundant cytoplasm, ovoid and spindle-shaped nuclei with fine chromatin. Mitoses were < 1/10 HPFs. A delicate vascular network of small capillaries was noted. Immunohistochemical staining showed that tumor cells were positive for Calretinin, AE1/AE3, Desmin, progesteron receptors, SMA and h-caldesmon. Pathological examination concluded to an UTROSCT. CLINICAL DISCUSSION: UTROSC is a rare tumor with only two cases with cervical involvement reported so far. They have an indolent clinical history and thus require a more cautious and less invasive therapeutic decision. The diagnosis remains on the pathological examination. CONCLUSION: This case is original by its location and the age of presentation. Careful follow-up is necessary searching for local recurrence or metastasis.