In order to accurately establish a diagnosis, both clinical evaluation (nonspecific symptoms in most cases), imaging investigations, anatomopathological examinations and IHC tests are involved. Among the imaging investigations, we mention ultrasound – it shows nonspecific hypo-/hyperechoic images, therefore in most cases CT or MRI is chosen, the diagnosis of certainty being established by anatomopathological examen following a biopsy⁽⁸⁾.

From the treatment perspective, there are multiple possibilities of which the highest demonstrated efficacy was by complete surgical excision of the tumor, difficult to achieve because of the hardness and particularly adherent tumor structure⁽⁹⁾. In the absence of a complete excision, the risk of local recurrence persists, in which case patients can receive corticosteroid therapy and new generation therapies like ALK inhibitors which have also proven their effectiveness^(10-12).

Case report

A 45-year-old female patient, Caucasian, with no significant family history, with a personal history of two births and six abortions on request, presented with symptoms that had appeared approximately six months ago, consisting of intense pelvic pain, intestinal transit disorders, pain during defecation, and the presence of a palpable pseudotumoral formation in the left iliac fossa. Nine months ago, the patient requested a gynecological consultation, during which she performed a transvaginal ultrasound that identified the presence of a hypo-/hyperechoic pelvic mass. The intrauterine device was extracted, and the patient was scheduled for a pelvic MRI, Pap test and uterine biopsy curettage. The results of the two tests suggested the absence of elements of malignancy in the case of curettage and inflammatory lesions, and NILM (negative for intraepithelial lesion or malignancy) in the case of the PAP exam.

The patient underwent an MRI examination two months before the current hospitalization, revealing the appearance of a left tubo-ovarian abscess, with a fistulous path with the left lateral sigmoid wall, bilateral ovarian cysts (a large one on the left – Figure 1), hydrosalpinx on the right side, thickening of the sigmoid wall with an inflammatory appearance all over the length, intramural leiomyoma, and multiple pelvic ganglia (Figure 2).
 

The clinical examination revealed a supple abdomen, mobile with breathing, spontaneously and palpatory painful in the lower quadrant, where a hard tumoral formation of approximately 10 cm was found, the vaginal examination suggesting a normal-looking cervix, pain at the level of the lateral pouches, where a solid, unmovable formation was palpated. The results of the biological tests led to the diagnosis of moderate anemia (HGB values of 9.6 g/dl). ANCA antibodies, C3 and C4 complements, and electrophoresis of blood proteins recorded normal values, with fibrinogen only being increased to values of 410.5 mg/dl.

Given the clinical examination and the paraclinical tests, it was decided to perform the surgical intervention, under general anesthesia through orotracheal intubation, finding the presence of a tumoral or inflammatory block (not possible to differentiate) that included the uterus, ovaries (enlarged, with hydrosalpinx appearance) and sigmoid colon, left ovarian cyst of approximately 10 cm. Bilateral adnexectomy was performed, later the dissection of the tumor was attempted, with the release of the uterus and the sigmoid colon (difficult dissection, tissues of increased consistency). A biopsy was taken from this tissue, and the histopathological examination described a chronic inflammatory aspect, negative for malignancy, with the recommendation of an IHC test. The latter established the final diagnosis of inflammatory myofibroblastic tumor.

Postoperatively, prophylactic antibiotic treatment (meropenem + vancomycin), anti-inflammatory and symptomatic treatment was initiated, under which the evolution was favorable, with symptoms slowly alleviating.

The patient was discharged with the recommendations to avoid intense physical exertion and to return in 30 days in order to perform the colonoscopy and the control MRI examination.

After one month, the patient was hospitalized for surgical reevaluation. A colonoscopy was performed, which objectivized a normal appearance up to the level of the splenic angle, and a pelvic MRI revealed the absence of cystic images corresponding to the two ovaries that were excised, persistent slight dimensional progression of the compartmentalized cystic image located parauterine posterolaterally on the left, and obturator adenomegalia.

After the oncological examination, it was established that the patient had no indication for chemotherapy or radiotherapy, and it was decided to initiate corticosteroid therapy – initially pulse therapy with 250 mg of Solu-Medrol® for three days, then prednison 30 mg/day for one month. The reevaluation recommendation was issued after this interval.

One month later, the patient showed complete remission of symptoms and a significant reduction in the size of the tumor. The patient did not report any adverse event during the cortisone treatment.

Discussion

This case report highlights an extremely rare pathology, scarcely described in the literature. The patient hospitalized in our clinic underwent a series of imaging and laboratory investigations (colonoscopy, MRI, uterine biopsy curettage, Babeş-Papanicolaou test, IHC tests, ANCA, C3, C4, blood protein electrophoresis) until the diagnosis was confirmed.

Regarding age groups, we can confirm that the patient is part of the typical category of appearance of this pathology, the symptoms starting at the age of 45, confirming the hypotheses released from published studies^(1,2).

It is also interesting to analyze the evolution of the patient’s general condition under the chosen therapeutic protocol, and the fact that she entered complete remission and the prognosis is favorable, approximately four years after the intervention and the completion of the corticosteroid protocol. The lack of local recurrence can highlight the importance of the complementarity between complete surgical excision and the individualized corticotherapeutic regime^(9-12).

The location of the original tumor could not be determined, but it was most likely originated from the aberrant myofibroblastic proliferation at the level of the uterine mucosa, with a subsequent inclusion in a massive inflammatory process of the adjacent organs (sigmoid colon, ovaries). We highlight that the lungs remain the preferred location of inflammatory fibrosarcomas, but this particular case reinforces the idea of ​​not excluding other sites of tumor origin⁽³⁾. It is imperative to mention the fact that ultrasound cannot provide sufficient information about IMTs with findings like hypo- and hyperechogenicity, MRI and CT becoming the investigations of choice in cases where a myofibroblastic tumor is suspected⁽⁸⁾.

Another important aspect is the differential diagnosis, namely the fact that myofibroblasts, the main cell type in the IMTs, are cells of mesenchymal origin, having common ultrastructural characteristics with fibroblasts and smooth muscle cells⁽⁸⁾. Myofibroblastic differentiation is observed both in benign tumors such as nodular fasciitis, as well as in intermediate malignant tumors such as desmoid fibromatosis. The specialized literature highlights as a unique purely malignant process of mesenchymal origin, which includes myofibroblastic proliferation and low-grade myofibroblastic sarcoma. In the differentiation process of these conditions, a huge role is held by the IHC exam.

Conclusions

We are facing an extremely rare pathology, and this prevalence is probably determined by its underdiagnosis. The technological progress and, therefore, the diagnostic possibilities can represent a real starting point for increasing the discovery rates of the less frequent pathologies.

In the birth process of inflammatory myofibroblastic tumors, the genetic mutation at the level of the ALK gene was confirmed as a possible cause, representing the chance of developing targeted and super-specialized therapies, based on specific inhibitors of this gene, such as crizotinib, cirotinib, alectinib, brigatinib and lorlatinib.

The publication rate of these cases of rare pathology remains crucial in order to form a useful database for the development of specialized diagnostic and treatment protocols. It is mandatory that the questions that have not been answered at the present moment represent the encouragement for organizing clinical studies and, at the same time, for laboratories to confirm the tumoral genomic profile, accepting the idea that in modern pathology, very often, genetic mutations represent a promoter of the pathology.

Starting from these principles, we can look for modern perspectives of diagnosis, staging and treatment, even in the case of extremely rare pathologies in the category of which the inflammatory myofibroblastic tumor is part of. 

Autori pentru corespondenţă: Cristina-Raluca Iorga E-mail: cristina.iorga@umfcd.ro

CONFLICT OF INTEREST: none declared.

FINANCIAL SUPPORT: none declared.

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