Category Archives: AMM 2023, Volume 69, Number 4

Gallbladder metastasis from occult lobular breast
carcinoma: A case report

DOI: 10.2478/amma-2023-0041

Introduction: Bones, lungs, brain and liver are the most common metastatic sites of breast carcinoma, although invasive lobular carcinoma can give metastases to less common sites, such as the gastrointestinal tract and the female genital tract.
Case presentation: We present the case of a 57-year-old female with colic abdominal pain that was sent to surgery for cholecystectomy. Histopathology revealed a poorly cohesive individual or in single file neoplastic cells infiltrating all layers of the gallbladder. Immunohistochemistry revealed these cells to be CK 116, CK7, GCDFP-15, ER and PR positive, and CK20, HER-2, S-100 and E-cadherin negative. PET/CT showed numerous lytic bone lesions, but ultrasound, mammography, MRI and PET/CT revealed no breast mass.
Conclusion: Although rare and poorly understood, metastases of invasive lobular carcinoma to gallbladder do exist in a minor percentage of patients, presenting usually as exacerbated cholecystitis. The problem are silent cases and patients with no history of breast carcinoma. This case is unique in that even after the diagnosis of metastatic lobular breast carcinoma to the gallbladder, the primary tumour of the breast was not detected.

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Marcus Gunn jaw-winking syndrome: A case report

DOI: 10.2478/amma-2023-0040

Marcus Gunn jaw wink phenomenon or Trigeminal oculomotor synkinesis, is a congenital disorder in which the upper lid moves synkinetically in response to jaw movement during chewing. The term synkinesis describes the simultaneous movement or a coordinated sequence of movements of muscles, which are supplied by different nerves or by separate peripheral branches of the same nerve. Although it rarely manifests bilaterally, it is typically unilateral. In 1883, Dr Robert Marcus Gunn, a Scottish Ophthalmologist described a 15-year-old girl with a peculiar type of congenital ptosis that included an associated winking motion of the affected eyelid on the movement of the jaw. It is known to affect both men and women equally. This phenomenon has been reported to be a similar phenomenon affecting 2-13% of all cases of congenital ptosis. It can be congenital or acquired, for example through trauma. The Congenital Marcus Gunn jaw wink phenomenon is thought to arise from the connection between the branch of the trigeminal nerve (responsible for chewing) supplying the middle or lateral pterygoid muscle and the branch of the oculomotor nerve supplying the upper superior levator ocular defect. Here we present a case report of Marcus Gunn’s Jaw-Winking Synkinesis in congenital ptosis.

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Histological patterns of testicular biopsy in patients with azoospermia: single-institution experience

DOI: 10.2478/amma-2023-0038

Objective of this study was to identify the histopathological patterns and their frequency in testicular biopsy specimens from azoospermic patients and to categorize it according to Modified Johnsen scoring system.
Methods: Testicular biopsies from male patients with clinical diagnosis of azoospermia were included in this study. All tissue samples were fixed in buffered 10% formalin, routinely processed and stained with Hematoxylin and Eosin. All cases were examined microscopically and categorized according to the histopathological patterns and Modified Johnsen scoring system.
Results: Total 219 cases of testicular biopsies from 125 azoospermic male patients were evaluated, with 94 cases of bilateral testicular biopsy. The most prevalent age group was of 30-39 years (66.2%). The most common histological pattern was of Sertoli cell only syndrome (58.4%) while the least represented pattern was germ cell maturation arrest, seen in 4.6% cases. The most common Modified Johnsen score was 2 (66.7%). There was discordance in histologic pattern in both testes in 12.76% of patients who had bilateral testicular biopsy.
Conclusion: Our study gives an insight on the most common histopathological patterns of azoospermic patients and emphasizes the need for a better national statistics and epidemiological studies of this entity. It also points out the significance of the bilateral testicular biopsy, as both, diagnostic and therapeutic procedure.

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Adrenocortical carcinoma: A tumor with poor answer to classic chemotherapy

DOI: 10.2478/amma-2023-0039

Introduction: Adrenocortical carcinoma (ACC) represents a rare endocrine malignancy being the second most aggressive endocrine cancer after anaplastic thyroid cancer. [1]. While most of them arise sporadically, up to 15% of adult ACC patients are related to germline mutations associated with familial cancer syndromes.[1,2]. Current treatment strategies include surgery as well as systemic therapy with mitotane and chemotherapy.
Case report: A 60-year-old female patient with a family history of colon cancer, multinodular goiter, hypothyroidism treated with substitutive therapy, uterine fibroids, and hypertension, was diagnosed with adrenocortical carcinoma. No distant metastasis were present at the moment of diagnosis so an adrenalectomy was performed. Due to postoperative complications, a total nephrectomy was also needed. Adjuvant Mitotane treatment was given. A CT exam performed 5 months after the resection showed multiple pulmonary metastasis, a liver nodule and peritoneal carcinomatosis. The standard first-line chemotherapy of choice was Carboplatin and Etoposide. After completing 3 cycles of chemotherapy the imaging reassessment show the progression of liver and peritoneal lesions and the quasi-complete regression of lung lesions. Currently, the Mitotate treatment was stopped due to severe adverse reactions.
Conclusions: Adrenocortical carcinoma is a rare endocrine malignancy with a poor prognosis. The recruitment of ACC patients for new clinical trials to investigate new treatment strategies is needed because currently, no significant therapeutic breakthrough is emerging.

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