Mismatch repair protein deficiency in triple-negative breast carcinomas.

BACKGROUND: Breast cancer, particularly triple-negative breast cancer (TNBC), poses a significant global health burden. Chemotherapy was the mainstay treatment for TNBC patients until immunotherapy was introduced. Studies indicate a noteworthy prevalence (0.2% to 18.6%) of mismatch repair protein (MMRP) deficiency in TNBC, with recent research highlighting the potential of immunotherapy for MMRP-deficient metastatic breast cancer. This study aims to identify MMRP deficiency in TNBC patients using immunohistochemistry. METHODS: A retrospective cohort study design was used and included TNBC patients treated between 2015 and 2021 at King Hussein Cancer Center. Immunohistochemistry was conducted to assess MMRP expression. RESULTS: Among 152 patients, 14 (9.2%) exhibited deficient MMR (dMMR). Loss of PMS2 expression was observed in 13 patients, 5 of whom showed loss of MLH1 expression. Loss of MSH6 and MSH2 expression was observed in one patient. The median follow-up duration was 44 (3-102) months. Despite the higher survival rate (80.8%, 5 years) of dMMR patients than of proficient MMR patients (62.3%), overall survival did not significantly differ between the two groups. CONCLUSION: Approximately 9% of TNBC patients exhibit dMMR. dMMR could be used to predict outcomes and identify patients with TNBC who may benefit from immunotherapy.

Mixed sex cord-stromal tumor (gynandroblastoma) with malignant morphology involving both ovaries: a case report.

Mixed sex cord-stromal tumors, which consist of poorly differentiated Sertoli cells and Leydig cells and juvenile granulosa cell tumor tissue, are extremely rare. Most of these tumors are unilateral and stage I at the time of diagnosis; nonetheless, according to the available relevant English-language literature, these tumors maintain a malignant potential. We herein report a case involving a 15-year-old girl diagnosed with a mixed sex cord-stromal tumor (gynandroblastoma with juvenile granulosa cell tumor component). Left salpingo-oophorectomy was initially performed, and the diagnosis of a juvenile granulosa cell tumor was established. Right salpingo-oophorectomy was performed 1 year later, at which time the specimen showed a different growth pattern involving epithelioid cells and tubules, resembling a Sertoli-Leydig cell tumor. Immunohistochemical staining was performed and the specimen was compared with that obtained 1 year earlier. We concluded that the tumors were linked and most likely constituted a gynandroblastoma (mixed form of sex cord-stromal tumor). Although this is an extremely uncommon ovarian tumor, it should be considered when diverse tumor morphology is identified. Bilateral metachronous involvement of the ovaries is possible. The grade of the Sertoli-Leydig cell component may influence the prognosis of such a tumor.

Anaplastic lymphoma kinase rearrangements in patients with non-small cell lung cancer in Jordan.

OBJECTIVE: Anaplastic lymphoma kinase (ALK) rearrangement is an important oncogenic driver in some non-small cell lung cancers (NSCLC). Treatment with ALK tyrosine kinase inhibitors improves survival. The availability of diagnostic immunohistochemistry (IHC) has led to a paradigm shift in ALK testing. This study examined the prevalence of ALK rearrangement in Jordanian patients with NSCLC and compared the results of IHC and fluorescence in situ hybridization (FISH) for detecting ALK rearrangement. METHODS: This retrospective study on 449 patients with NSCLC treated at the King Hussein Cancer Center in Jordan tested biopsy samples for ALK rearrangement using FISH and/or IHC (D5F3) between 2018 and 2020. RESULTS: Eighteen patients (4%) had ALK-positive NSCLC. The calculated sensitivity and specificity of ALK immunostaining compared with FISH were 87.5% and 96%, respectively. ALK-positive patients were significantly younger than their ALK-negative counterparts, and women were three times more likely to carry ALK rearrangement than men. ALK rearrangement was significantly associated with smoking history, with most ALK-positive patients being non-smokers, former smokers, or light smokers. CONCLUSIONS: IHC is a reasonable alternative to FISH for ALK testing with advantages in terms of robustness, turnaround times, and cost-effectiveness.

Concomitant Langerhans cell histiocytosis of cervical lymph nodes in adult patients with papillary thyroid carcinoma: A report of two cases and review of the literature.

OBJECTIVE: : Langerhans cell histiocytosis (LCH) is an uncommon entity of unknown etiology. It contains a wide range of clinical presentations. The discovery of oncogenic BRAF V600E mutation in LCH has provided additional evidence that LCH is a neoplasm. Papillary thyroid carcinoma is the most common cancer of the thyroid characterized by a high incidence of BRAF V600E mutations. LCH with concomitant PTC is rare, with few cases reported in the literature. CASES SUMMARY: We identified two cases of LCH with concomitant papillary thyroid carcinoma in adult patients. The first was a 49-year-old female with a thyroid nodule diagnosed with papillary thyroid carcinoma. Later, the patient had a left neck mass; Ultrasound-guided lymph node FNA was diagnosed with Langerhans histiocytosis. Subsequently, a chest CT scan revealed signs of Langerhans cell histiocytosis in the lung. The second case refers to a 69-year-old male who presented with a left thyroid nodule diagnosed on FNA cytology as papillary thyroid carcinoma. The patient was found to have multiple bone lytic lesions. Biopsies revealed Langerhans cell histiocytosis. Later, the patient experienced LCH involvement of the bone marrow with associated secondary myelofibrosis. CONCLUSIONS: LCH is rare in adults; the association with papillary thyroid carcinoma is reported and should be considered in the presence of Langerhans cell groups along with PTC, whether in the thyroid gland or cervical lymph nodes. Once LCH has been diagnosed, pulmonary involvement should also be investigated. This will direct treatment plans for patients with pulmonary or systemic disease involvement.

Concomitant Langerhans cell histiocytosis of cervical lymph nodes in adult patients with papillary thyroid carcinoma: A report of two cases and review of the literature

Objective : Langerhans cell histiocytosis (LCH) is an uncommon entity of unknown etiology. It contains a wide range of clinical presentations. The discovery of oncogenic BRAF V600E mutation in LCH has provided additional evidence that LCH is a neoplasm. Papillary thyroid carcinoma is the most common cancer of the thyroid characterized by a high incidence of BRAF V600E mutations. LCH with concomitant PTC is rare, with few cases reported in the literature. Cases summary We identified two cases of LCH with concomitant papillary thyroid carcinoma in adult patients. The first was a 49-year-old female with a thyroid nodule diagnosed with papillary thyroid carcinoma. Later, the patient had a left neck mass; Ultrasound-guided lymph node FNA was diagnosed with Langerhans histiocytosis. Subsequently, a chest CT scan revealed signs of Langerhans cell histiocytosis in the lung. The second case refers to a 69-year-old male who presented with a left thyroid nodule diagnosed on FNA cytology as papillary thyroid carcinoma. The patient was found to have multiple bone lytic lesions. Biopsies revealed Langerhans cell histiocytosis. Later, the patient experienced LCH involvement of the bone marrow with associated secondary myelofibrosis. Conclusions LCH is rare in adults; the association with papillary thyroid carcinoma is reported and should be considered in the presence of Langerhans cell groups along with PTC, whether in the thyroid gland or cervical lymph nodes. Once LCH has been diagnosed, pulmonary involvement should also be investigated. This will direct treatment plans for patients with pulmonary or systemic disease involvement.

The establishment of an ISO compliant cancer biobank for Jordan and its neighboring countries through knowledge transfer and training.

Research studies aimed at advancing cancer prevention, diagnosis, and treatment depend on a number of key resources, including a ready supply of high-quality annotated biospecimens from diverse ethnic populations that can be used to test new drugs, assess the validity of prognostic biomarkers, and develop tailor-made therapies. In November 2011, KHCCBIO was established at the King Hussein Cancer Center (KHCC) with the support of Seventh Framework Programme (FP7) funding from the European Union (khccbio.khcc.jo). KHCCBIO was developed for the purpose of achieving an ISO accredited cancer biobank through the collection, processing, and preservation of high-quality, clinically annotated biospecimens from consenting cancer patients, making it the first cancer biobank of its kind in Jordan. The establishment of a state-of-the-art, standardized biospecimen repository of matched normal and lung tumor tissue, in addition to blood components such as serum, plasma, and white blood cells, was achieved through the support and experience of its European partners, Trinity College Dublin, Biostór Ireland, and accelopment AG. To date, KHCCBIO along with its partners, have worked closely in establishing an ISO Quality Management System (QMS) under which the biobank will operate. A Quality Policy Manual, Validation, and Training plan have been developed in addition to the development of standard operating procedures (SOPs) for consenting policies on ethical issues, data privacy, confidentiality, and biobanking bylaws. SOPs have also been drafted according to best international practices and implemented for the donation, procurement, processing, testing, preservation, storage, and distribution of tissues and blood samples from lung cancer patients, which will form the basis for the procurement of other cancer types. KHCCBIO will be the first ISO accredited cancer biobank from a diverse ethnic Middle Eastern and North African population. It will provide a unique and valuable resource of high-quality human biospecimens and anonymized clinicopathological data to the cancer research communities world-wide.

Distinct features of teratoid Wilms tumor.

Teratoid Wilms tumor is an unusual variant of nephroblastoma in which heterologous tissue predominates. Typically, histopathologic examination shows a mixture of mature squamous and mucus-producing columnar epithelium and a prominent component of mature adipose tissue. The treatment of this tumor has not been established because of its rarity with some reports doubting the value of chemotherapy. We report 3 new cases and review the 23 previously reported cases that we were able to identify. The first case was a 2-year-old boy with a huge tumor that occupied most of the abdominal cavity. The second case was a 5-year-old girl with a metastatic tumor in association with horseshoe kidney and is the first case of teratoid Wilms tumor with brain metastasis. The third case was an 11-month-old girl with bilateral involvement. Imaging studies of our patients were similar to those reported in the literature with areas of fat attenuation and calcification. Failure to respond to preoperative chemotherapy was seen in our patients and in most previously reported cases that were treated with preoperative chemotherapy. We recommend treating this entity with protocols designed for Wilms tumor and to conduct further basic research to understand its biologic nature.