Cancer genetic alteration. Cancer is genetic disease, Traducere "genetic disease" în română


Ovarian high-grade serous carcinoma is a type of malignancy that is rare among young adult women, being more frequent in postmenopausal wo­men. We present the case of a young woman cancer genetic alteration this type of malignant tumor, who in addition already had extension beyond the pelvis at the time of diagnosis, which is a poor prognostic factor.

Case report.

We repot the case cancer genetic alteration a year-old woman who was admitted in cancer genetic alteration hospital with pelvic pain and ascites and also with suspicion of peritoneal carcinomatosis. After complex surgery, the histopathological result was esr pentru viermi pentru copii ova­rian high-grade serous carcinoma with invasion of the perivesical peritoneum, mesoappendix, multiple omental involvement and one regional lymph node me­tastasis.

Afterwards, she was submitted for oncologic treatment. The follow-up, three years later, revealed patient survival, but with peritoneal carcinomatosis status on abdominal-pelvic CT scan. Our work brings together reports of young women worldwide facing this form of cancer and underlines the fact that, regardless of age, reproductive women are at risk of developing an aggressive and deadly disease, and that clinical, biological and imaging screening should be increased from an early age.

Keywords high-grade serous carcinoma, young women, screening Rezumat Obiectiv.

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Carcinomul ovarian seros cu grad înalt de malignitate este un tip de cancer rar întâlnit la femeile tinere, fiind mai frecvent la femeile în postmenopauză. Vă prezentăm cazul unei femei tinere cu această formă de tumoră malignă, care se afla deja într-un stadiu avansat cu extensie extrapelviană la momentul diagnosticului, ceea ce reprezintă un factor de prognostic negativ.

Prezentare de caz.

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Raportăm cazul unei femei de 36 de ani care s-a prezentat la spitalul nostru cu dureri pelviene și ascită, suspicionându-se carcinomatoză peritoneală. După intervenția chirurgicală histerectomie totală cu anexectomie bilaterală, apendicetomie și evidare ganglionară radicalărezultatul histopatologic a fost: carcinom ovarian seros de grad înalt, bilateral, cu invazia peritoneului perivezical, mezoapendice, omentală, precum și a unui limfoganglion regional.

Pacienta a supraviețuit și s-a prezentat periodic la control, însă la trei ani de la operație, la examenul CT abdomino-pelvian, s-au identificat semne de carcinomatoză peritoneală. Lucrarea noastră aduce în prim plan raportări de cazuri ale unor paciente tinere din întreaga lume suferind de cancer genetic alteration formă de cancer și subliniază faptul că, indiferent de vârstă, femeile aflate în perioada reproductivă sunt la risc de a dezvolta o afecțiune ovariană agresivă și letală, de aceea este important ca screeningul clinic, biologic și imagistic să fie început de la o vârstă timpurie.

Serous carcinoma is most often diagnosed in the sixth and seventh decade, with a mean age of high-grade tumors of 63 years old 3.

Diagnosis is often delayed because symptoms are non-specific and include: abdominal pain, distension, gastrointestinal symptoms nausea, anorexia, constipationhigh urinary frequency, vaginal bleeding 1,3. The treatment is represented by surgery and chemotherapy, and although most of them initially respond to chemotherapy, the response is not durable, compared with cancer genetic alteration serous carcinomas, which are less likely to respond to chemotherapy, but have a more favorable prognosis, based on their indolent growth 4.

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Case report We report the case of a year-old woman with previous complains of abdominal pain and moderate abdominal distension who was admitted in our hospital.

Following ultrasound examination Figure 1we detected a large left ovarian tumor multiple septa with intense vascularity during Doppler inspection and ascites. After CT examination of the abdomen and pelvis, peritoneal cancer genetic alteration was suspected. CA and HE4 markers were slightly elevated. Figure 1. Figure 2. Macroscopic appearance of the left ovary; note the presence of multiple solid and cystic areas with yellow-brown fluid On macroscopy, both ovaries were enlarged, the left one measuring 90 mm in diameter and the other 5 cm.

On cut section the left ovary presented multiple solid and cystic areas with yellow-brown fluid Figure 2 ; similar appearance was also detected in the lateral margin of the right ovary.

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Figure 3. Solid area with severe pleomorphism and numerous mitosis H. Cystic area with papillary and micropapillary structures H. Estrogen receptor positivity - IHC x40 The histopathological examination concluded bilateral ovarian high-grade serous carcinoma with invasion of the perivesical peritoneum, mesoappendix, multiple omental involvement and one regional lymph node metastasis stage IIICwith no evidence of metastasis to extraabdominal organs or parenchymal metastasis.

The patient was submitted for further oncologic treatment. Figure 6.

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In a published study, A. Malpica et al. The two-tier system of classification of serous carcinoma is composed of low-grade and high-grade tumors.

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The criteria for sub-classifying to one or the cancer genetic alteration are histological, represented by nuclear atypia and mitotic activity 3,6. According to age incidence, the low-grade tumors occur at younger age, with statistically declared one decade earlier than high-grade counterpart 1,6. More than their histological differences, the two serous­ malignant entities have been described in literature to come along different development pathways.

Type I carcinoma low-grade progresses from borderline or benign tumors and are thought to retain their low-grade appearance even after disease recurrence, and type II carcinoma high-grade were described mostly as de novo tumors, although a small percent appear to have evolved from a low-grade tumor 6,7. Supporting the different pathways are studies demonstrating different genetic alterations, low-grade tumors harbor KRAS and BRAF mutations, whereas high-grade tumors have p53 mutations and sometimes harbor BRCA mutations 3,6.

Other genetic alteration, like MMR genes in Lynch syndrome, is rarely seen in high-grade serous carcinoma, and is more frequent in non-serous types of ovarian cancer 6, In terms concerning screening, it is stated in literature that there cancer genetic alteration no documented effective screening methods that reduce the mortality in ovarian carcinoma.

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This supports the rapid onset and possible fulminant behavior of the disease, as de novo cancer, without detectable precancerous lesions. Additionally, Horvath L.

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In our case, we have a big tumor dimension, up to 10 cm, and advanced stage disease, but we could not say when the metastasis began, and do not know if previous screening would have helped the patient in detecting earlier tumoral stage. What is cancer genetic alteration is that the diagnosis was not incidental, and addressability to cancer genetic alteration care was done when her quality of life was seriously affected.

So, the need for reliable screening tests is an extreme necessity. Conclusions High-grade ovarian serous carcinoma is the most frequent ovarian cancer and it is found mostly in postmenopausal women, but cases of young women, at reproductive age, as in our case, have been reported in literature.

We found a higher tumor size accompanying advanced tumor stage at the time of diagnosis. Regardless of age, reproductive women are at risk of developing an aggressive and deadly disease, but currently used screening tools need to be more studied regarding their effectiveness, on how often should they be performed or if there can be new screening tests for current use from an early age.

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Bibliografie 1. The histologic type and stage distribution of ovarian carcinomas of surface epithelial origin. Int J Gynecol Pathol, ;23 1 WHO Classification of Tumours of female reproductive organs.

Nucci MR, Oliva E.

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Gynecologic Pathology. Churchill Livingstone Elsevier, Ovarian low-grade and high-grade serous carcinoma: Pathogenesis, Cancer genetic alteration and Molecular Biologic Features and Diagnostic Problems. Adv Anat Pathol, ;16 5 — Low grade serous neoplasms of the ovary with transformation to high grade carcinomas: Report of 3 hpv uomo esami. Int J Gynecol Pathol, ;31 5 —8.

Nakamura Cancer genetic alteration et al. Features of ovarian cancer in Lynch syndrome Review. Mol Clin Oncol. Lu KH, Daniels M. Endometrial and ovarian cancer in women with Lynch syndrome: Update in screening and prevention.

Fam Cancer,;12 2 Perioperative management of a patient with Krunkenberg tumor — a case report. Ovarian serous carcinoma: recent concepts on its origin and carcinogenesis. J Hematol Oncol.

Cancer is genetic disease

Cancer of the ovary, fallopian tube and peritoneum. The relationship between tumor size and stage in early versus advanced ovarian cancer. Med Hypotheses, ;80 5 Management of a patient with a giant serous ovarian cyst — a case report. Hormonii tiroidi Este una din cele mai frecvente complicaţii ale prematurităţii, în special la p