Cutaneous Melanocytic Tumor with CRTC1::TRIM11 Fusion: Review of the Literature of a Potentially Novel Entity

“Cutaneous melanocytic tumor with CRTC1::TRIM11 fusion” (CMTCT) is a recently described entity belonging to the family of superficial tumors displaying melanocytic differentiation. Thirteen cases have been reported so far, on the head and neck, extremities, and trunk of adults of all ages (12 cases) and one in an 11-year-old child. Histopathologically, it is a nodular or multilobulated tumor composed of spindle and epithelioid cells arranged in nests, fascicles, or bundles that are surrounded by thin collagenous septa. By immunohistochemistry, the tumor shows variable immunoreactivity for S100-protein, SOX10, and MITF, as well as specific melanocytic markers such as MelanA and HMB-45. The neoplasm’s biologic behavior remains uncertain since the reported cases are limited and the follow-up is short (median 12 months). However, local recurrence and synchronous distant metastasis after 13 years of initial resection has been described in one case. Herein, we present a comprehensive literature review of CMTCT hoping to raise awareness among the dermatopathologists of this potentially novel entity.

PECOMA DE COLO UTERINO: UM RARO RELATO DE CASO

Introdução: Os Pecomas são tumores de células epitelióides, de origem mesenquimal, normalmente benignos e extremamente raros. São encontrados mais frequentemente no retroperitônio, em região abdominopélvica, no trato gastrointestinal e no trato ginecológico, podendo ser encontrada também em tecidos moles e ossos. Recentemente foram publicados aproximadamente 100 casos de Pecoma, e cerca de 30% desses são de origem uterina, sendo o corpo do útero a região mais acometida. Em sua grande maioria possuem comportamento benigno, sendo raro o acometimento de estruturas ou órgãos vizinhos. Relato do caso: Trata-se de uma paciente de 38 anos, que apresentava sangramento uterino persistente, volume uterino aumentado e anemia associada. O ultrassom transvaginal mostrava a presença de vários nódulos sugestivos de leiomiomas. Após tratamento cirúrgico com histerectomia abdominal total, o anatomopatológico confirmou a presença de miomatose uterina, neoplasia intraepitelial cervical grau III e Pecoma de colo uterino. O exame de imunohistoquímica confirmou o diagnóstico de Pecoma, através da positividade para HMB-45, no achado cirúrgico. Conclusão: Portanto, por haver um número pequeno de relatos e estudos sobre o diagnóstico e tratamento do Pecoma, é importante e relevante estudarmos mais sobre essa afecção para melhorar os níveis de evidências e conhecimento sobre tal doença.

Malignant Melanoma of Anal Canal

Anal melanoma (AM) is a rare and highly aggressive mucosal melanocytic malignancy. We report a case of 70 year old male presented with chief complaints of anal pain and intermittent rectal bleeding with clinical diagnosis of Polyp or Carcinoma. On histopathology examination malignant melanoma was suggested which was further confirmed by immunohistochemistry (S100 and HMB 45 strongly positive). Anal melanoma is rare neoplastic condition with catastrophic outcome.

A PUZZLING HEPATIC TUMOR: EPITHELIOID ANGIOMYOLIPOMA WITH A MINOR ADIPOCYTIC COMPONENT

Hepatic epithelioid angiomyolipomas are uncommon mesenchymal neoplasms. They are difficult to diagnose by imaging, especially when the fatty component is scant or absent. The gold standard for the diagnosis is histologic examination coupled with an immunohistochemical study. Positive HMB-45 immunostaining of the myoid cells is a major diagnostic feature.

TFE3 Associated Perivascular Epithelioid Cell Tumor with Complete Response to mTOR Inhibitor Therapy: Report of First Case and Literature Review

Background: Perivascular epitheloid cell tumor (PEComas) are characterised by expression of both muscles, most often smooth muscle actin (in ~80% of cases) and melanocytic markers (mainly HMB-45 and Melan A). TFE 3 associated PEComas are new variant which are poorly defined due to their limited reports in literature. These tumors lack response to targeted mTOR inhibitor therapy due to lack of mutation in TSC gene. Hereby we are reporting a case of TFE3 associated pelvic PEComa showing excellent response to Everolimus. Case presentation: A 45-year-old female presented with complaint of abdominal mass and bleeding per vaginum for 4 months. She had a history of total abdominal hysterectomy 3 years back in view of abnormal uterine bleeding and exploratory laprotomy 7 months back to remove some pelvic mass. Imaging suggested of ill-defined heterogenous mass of 9.3 x 9.2 x 16 cm involving uterus, cervix and upper 1/3 vagina. Multiple omental and peritoneal deposits were also seen, making probable diagnosis of carcinoma endometrium. USG guided biopsy showed cores of fibrous tissue with presence of cells in sheets with granular eosinophillic cytoplasm, IHC showed positivity for TFE -3, H Caldesmon, GATA-3, Melan A-and HMB-45, Ki 67 index was 35%. On the basis of above diagnosis of PEComa was made and she was started on Everolimus, repeat imaging after 3 months of therapy, showed complete response.Conclusion: We are reporting first case of malignant pelvic TFE 3 PEComa showing response to mTOR therapy. Identification of TFE 3 PEComa is important because they showed different biologic behaviour then their conventional PEComa.

Hepatic Perivascular Epithelioid Cell Neoplasms: An Analysis of 16 Cases

Background: Hepatic perivascular epithelioid cell neoplasm (Hepatic PEComa) is a rare type of mesenchymal tumor and its diagnosis and treatment are controversial. To investigate its clinical features and to guide the diagnosis and treatment of this tumor.Methods: Retrospectively analysing the clinical data of 16 patients with pathologically confirmed hepatic PEComa, who were admitted to the First Affiliated Hospital of Zhengzhou University from April 2014 to April 2020, and summarizing its clinical symptoms, Imaging features, histological and immunohistochemical characteristics, therapy and prognosis. Results: All 16 patients were female, aged from 23 to 65 years (mean, 44±12 years). Clinical manifestations, preoperative routine laboratory tests and imaging examinations were lack of specificity. Immunohistochemical results showed that the positive rates of HMB-45, Melan-A and SMA were 100% (16/16), 100% (16/16) and 81.3% (13/16) respectively. The negative rates of Hepatocytes and S-100 were 100% (16/16) and 75% (12/16), respectively. With regard to treatment, eleven patients had undergone “laparotomy for partial hepatectomy” or “laparoscopic partial hepatectomy”. Three patients had undergone “radiofrequency ablation of liver tumors”. One patient had undergone chemotherapy with the " gemcitabine + nedaplatin + apatinib " regimen. Twelve of sixteen patients were followed up for 6- 55 months (mean, 26±18 months), one case of an intrahepatic recurrent lesion was found 14 months after radiofrequency ablation of liver tumors, and the remaining 11 cases showed no enlargement of the primary lesion, and no new lesions, metastasis or death. Conclusions: Hepatic PEComa lacks specific clinical manifestations and imaging features. The diagnosis depends on histological and immunohistochemical characteristics. The positive of HMB-45, Melan-A, and SMA and the negative of S-100 are helpful in the diagnosis of hepatic PEComa. Most hepatic PEComas are benign lesions, and radical resection is the best treatment with a favorable prognosis.

Cervical Angiomyolipoma Coexisting with Endometrial Carcinoma in the Absence of Tuberous Sclerosis: A Rare Case Report

Angiomyolipoma (AML) is a rare benign mesenchymal neoplasm composed of variable admixture of blood vessels, smooth muscle, and adipose tissue; most commonly located in kidney, and is usually associated with tuberous sclerosis. Extrarenal AML has been reported in various sites, although infrequently in female genital tract (FGT). AML in cervix is extremely rare and only six cases have been reported so far. A 46-year-old postmenopausal female presented with lower abdominal pain, bleeding for 4 days and a polypoidal mass protruding through the cervical os. Endometrial curettings were suggestive of endometrial adenocarcinoma—endometrioid type (World Health Organization [WHO]). The subsequent hysterectomy specimen confirmed the diagnosis and the histologic grade was International Federation of Obstetrics and Gynecology (FIGO) grade I and stage was pT1aN0 (American Joint Committee on Cancer [AJCC], 8th edition). Cervical polyp showed AML. CD34 and smooth muscle actin (SMA) showed diffuse positivity in blood vessels and smooth muscle cells, respectively. HMB-45 was negative. This is the first ever reported case of AML coexisting with endometrial carcinoma in the absence of tuberous sclerosis. CD34 is a good marker for delineating the blood vessels and SMA for both the smooth muscle and vascular components. S100 is generally not needed to prove the adipose tissue component. HMB-45 is not consistently expressed in AML of female genital tract.