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1.
BMC Cancer ; 22(1): 1112, 2022 Oct 31.
Artículo en Inglés | MEDLINE | ID: mdl-36316690

RESUMEN

BACKGROUND: Worldwide, esophageal cancer (EC) is a common cancer in term of incidence and mortality and is the 4th common cancer in Afghanistan. Current study aimed to evaluate the profile of risk factors for EC among patients diagnosed at tertiary level in Afghanistan. METHODOLOGY: A descriptive cross-sectional study was carried out between January 2019 up to February 2021 including all esophageal cancers diagnosed at pathology department of French Medical Institute for Mothers and Children, Afghanistan. RESULT: 240 diagnosed cases were analyzed, in which 59.40% of squamous cell carcinoma and 41.07% Adenocarcinoma. Both histopathological type of were predominantly diagnosed in males. The majority of the patients were residents of rural areas. More than 80% of the patients were illiterate with only less than 2% completing higher education. Majority of the patients were laborers and farmers while less than 10% were employed. According to income assessment, more than 80% were from low-income household, the rest from middle-income and none from high-income family. Oral snuff consumption was noted in 33.9% of squamous cell carcinoma patients and 40% adenocarcinoma patients whereas, family history of esophageal cancer was observed in 37.8% and 36.7% in both types of carcinomas, respectively. More than 60% of both types of carcinomas patients were hot tea drinkers. CONCLUSION: Current study demonstrated that most patients diagnosed with esophageal cancers were male, uneducated, belongs to low-income groups, lives in rural areas. These findings suggest distribution of esophageal cancer in specific socioeconomic groups, clearly demonstrating the need further analytical study.


Asunto(s)
Adenocarcinoma , Carcinoma de Células Escamosas , Neoplasias Esofágicas , Niño , Humanos , Masculino , Femenino , Estudios Transversales , Afganistán , Neoplasias Esofágicas/diagnóstico , Neoplasias Esofágicas/epidemiología , Adenocarcinoma/diagnóstico , Adenocarcinoma/epidemiología , Adenocarcinoma/patología , Carcinoma de Células Escamosas/epidemiología , Carcinoma de Células Escamosas/patología , Factores de Riesgo
2.
Urol Case Rep ; 46: 102296, 2023 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-36506796

RESUMEN

Hydatid cyst of Echinococcus granulosus usually develops in liver and lungs of the affected individual and is considered a common health problem in endemic regions. Although, the cyst can be found in less common locations, such as brain, heart, and bones, the urinary bladder is extremely rare that may mimic malignancy radiologically and creates a diagnostic dilemma for clinicians and radiologists. Here we present a unique case of hydatid cyst in the urinary bladder with associated eosinophilic cystitis.

3.
Int J Surg Case Rep ; 109: 108597, 2023 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-37531882

RESUMEN

INTRODUCTION AND IMPORTANCE: Approximately 30 % of population can have an accessory spleen, which is most often asymptomatic. Only when it becomes large in size, it may elicit symptoms, mostly due to complications, such as torsion, infarction, or traumatic hemorrhage. The preoperative diagnosis of an accessory spleen is often challenging due to its propensity to manifest the neoplasms of adjacent organs. Here we report a rare case of a huge tortured accessory spleen mimicking splenic lymphangioma and to review the literature. CASE PRESENTATION: A 27-year-old man was admitted to the emergency department following left hypochondrial pain that lasted for three days. The computed tomography scan findings demonstrate the spleen in its normal position, showing smooth outlines attached to a similar-density cystic heterogenous mass exhibiting strong radiological evidence of splenic lymphangioma. Surgical excision was performed, and a large tortured accessory spleen was discovered that was attached to the lower pole of the spleen by connective tissue. CLINICAL DISCUSSION: An accessory spleen is always smaller than 4 cm, and accessory spleens larger than that, especially with torsion, are extremely uncommon. According to literature, the identification of accessory spleen on the basis of clinical and radiological features is very difficult, especially when the patient presents with symptoms of acute abdomen. CONCLUSION: Considering the fact that accessory splenic tissue can mimics neoplasms of the spleen or nearby organs, it should be included in the differential diagnosis in an undiagnosed pre- or intraoperative hypochondrial mass, located in the vicinity of the spleen.

4.
Int J Surg Case Rep ; 106: 108106, 2023 May.
Artículo en Inglés | MEDLINE | ID: mdl-37058796

RESUMEN

INTRODUCTION AND IMPORTANCE: Gossypiboma is a term used to describe a surgical error related to accidental retention of surgical material within the body. Gossypibomas of extremities are rare and not only lead to serious health problems (infection and organ damage), but also, they may mimic benign or malignant tumors, especially those affecting the thigh where they may mimic soft tissue sarcomas. CASE PRESENTATION: A 50-year-old male, presented to the orthopedic department with a round palpable mass at mid-lateral of his right thigh region. The patient had history of surgical intervention on his femur due to femoral fracture 38-years ago. He had no sign of infection with normal laboratory workups. Radiological examinations suggested the possibility of a soft tissue sarcoma. Upon grossing, it revealed a white-tan and pink oval cystic mass with smooth surface. The cyst was filled with gauze fibers and creamy white-tan material. Histologically, the cystic wall of the mass revealed fibrocollagenous tissue, chronic inflammation and tiny foreign body materials, engulfed by the multinucleated giant cells, which was diagnosed as gossypiboma. CLINICAL DISCUSSION: Gossypiboma can mimic malignant soft tissue sarcomas. In most of the previously reported cases, the clinical and radiological findings suggested the possibility of malignant neoplasms. CONCLUSION: Considering the similarity between asymptomatic capsulated gossypiboma and soft tissue sarcomas radiologically, the possibility of gossypiboma should always be in the differential diagnosis, mainly in cases with presence of previous surgical scar or history of surgery at the affected area.

5.
IDCases ; 34: e01912, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37886696

RESUMEN

Hydatid disease is caused by the larvae of the parasite Echinococcus granulosus and, less commonly, Echinococcus multilocularis in the endemic regions. A hydatid cyst of Echinococcus granulosus commonly develops in the liver and lungs of the affected individual and rarely occurs in the brain, bones, and heart. The spinal hydatidosis comprises 50% of the cases affecting the bones, which usually leads to severe morbidities. We present a case of a 52-year-old Afghan woman presented to the hospital with Gibbus deformity, complaining of lower back pain and flaccid paraplegia for one year. Findings of Magnetic Resonance Imaging of the lumbosacral spine were suggestive of a hydatid cyst involving the vertebrae with extension to the paravertebral soft tissue, leading to acute kyphosis, severe canal stenosis, and cord compression. Treatment included complete cyst removal. The diagnosis was confirmed by gross and microscopic evaluation of the cyst contents. The patient was discharged after significant pain relief and deformity correction. Vertebral hydatidosis is notorious for its recurrence despite vigorous surgical and medical treatment. The hydatid cyst grows rapidly and can cause irreversible damage to the spinal cord in neglected cases. Currently, the best treatment approach is complete surgical removal of the cyst, irrigation with a scolicidal agent, and postoperative follow-up with a long-term course of albendazole. Spinal hydatidosis is a rare, severe disease with significant morbidity. Despite significant scientific advances in understanding of disease pathogenesis, the parasite's predilection for the spine and the influence of host-specific factors on anatomical manifestations remain a mystery.

6.
Clin Exp Med ; 23(6): 2201-2207, 2023 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-36244023

RESUMEN

In Afghanistan, there are no reliable epidemiological data available about thyroid cytopathology and its possible relationship with the age and gender of patients. Therefore, we conducted this study to outline this relationship and the importance of fine needle aspiration cytology in this regard. A retrospective review study was conducted including 686 consecutive medical records of thyroid nodules diagnosed by fine needle aspiration cytology in a span of five years. Out of 686 consecutive patients with thyroid nodules included in this study, 566 were females and 120 were males. Most of the thyroid nodules diagnosed were benign lesions with female predominance. These nodules were commonly arising in between 3rd and 6th decades of life in both the genders with mean age of 42 ± 13 years in females and 52 ± 15 years in males. Thyroid malignancy was commonly diagnosed in middle-age females, however in males, it was frequently diagnosed in older age with a peak at 7th decade. Most of the malignant nodules were solid and complex with no purely cystic nature. In both the genders, thyroid nodules were commonly arising in the right thyroid lobe (52.3%), followed by left (35.7%), isthmus (8.7%) and bilateral (3.2%). Fine needle aspiration cytology remains the modality of choice for the diagnostic evaluation of nodular lesions of thyroid. In contrast to the data reported around the world, thyroid malignancies, in our study, were diagnosed in relatively older age groups with peak incidence in the 5th decade of life for females and 7th decade for males.


Asunto(s)
Neoplasias de la Tiroides , Nódulo Tiroideo , Persona de Mediana Edad , Humanos , Femenino , Masculino , Anciano , Adulto , Nódulo Tiroideo/diagnóstico , Nódulo Tiroideo/epidemiología , Nódulo Tiroideo/patología , Estudios Retrospectivos , Neoplasias de la Tiroides/diagnóstico , Neoplasias de la Tiroides/epidemiología , Neoplasias de la Tiroides/patología , Biopsia con Aguja Fina , Incidencia
7.
Int J Surg Case Rep ; 105: 107979, 2023 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-36933408

RESUMEN

INTRODUCTION AND IMPORTANCE: Teratoma is a germ cell tumor originating from pluripotent germ cells and embryonal cells that commonly occurs in the gonads with only 15 % of it arising in extragonadal sites. In infants and children, teratomas of the head and neck are uncommon that comprise 0.47 %-6 % of all teratomas, and their occurrence in parotid gland is extremely rare. It is considered a diagnostic pitfall preoperatively, and their definite diagnosis can only be made upon surgery followed by histopathological examination. CASE PRESENTATION: We present a unique case of parotid gland teratoma in a 9-month-old girl who was brought to the hospital by her parents with right side parotid region swelling since birth. The ultrasonographic findings were suggestive of cystic hygroma. Upon surgery, the mass was completely excised with a part of parotid gland. The diagnosis of mature teratoma was made based on the histopathologic examination. No tumor recurrence was noted during the 4-month postoperative follow-up. CLINICAL DISCUSSION: Teratoma of the parotid gland is an extremely rare entity that may mimic diverse benign and malignant tumors of the salivary gland. Patients often present to the health care facility with a parotid gland swelling leading to defacement. Complete surgical resection of the tumor is considered the best treatment approach with careful preservation of facial nerve. CONCLUSION: Due to the scarcity of information available regarding the behavior and clinical management of parotid gland teratoma in the literature, a good follow-up of patient is required to exclude potential recurrency and neurological deficit.

8.
Int J Surg Case Rep ; 105: 108098, 2023 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-37018950

RESUMEN

INTRODUCTION: Pseudomyxoma pleurii is a rare disease that is defined by the pleural extension of pseudomyxoma peritonei, usually secondary to a mucinous neoplasm of the appendix or ovary. It is characterized by diffuse mucinous deposits on the pleural surface. CASE PRESENTATION: A 31-year-old woman presented to the hospital with dyspnea, an increased respiratory rate, and decreased oxygen saturation. Following an appendectomy for a perforated mucinous appendiceal tumor eight years ago, the patient underwent multiple surgeries for the resection of mass deposits in the peritoneal cavity. At presentation, her chest computed tomography with contrast revealed cystic mass deposits on the right-side pleura with a massive multi-locular pleural effusion mimicking hydatid cyst. Upon histopathologic examination, multiple small cystic structures lined by tall columnar epithelium with basally placed bland nuclei floating in the mucin pools were noted. CLINICAL DISCUSSION: Pseudomyxoma peritonei often leads to abdominal distention, intestinal blockage, anorexia, cachexia, and eventually death. It rarely spreads outside the abdomen, and its extension to the pleura is extremely unusual, with only a small number of cases documented in the literature to date. Radiologically, pseudomyxoma pleurii may resemble hydatid cyst of the lung and pleura. CONCLUSION: Pseudomyxoma pleurii is a rare entity with a poor prognosis that usually arises secondary to Pseudomyxoma peritonei. The risk of morbidity and mortality is reduced by early diagnosis and treatment. The present case places emphasis on the inclusion of pseudomyxoma pleurii in the differential diagnosis of pleural lesions in patients with the history of appendiceal or ovarian mucinous tumors.

9.
Cancer Manag Res ; 14: 3325-3333, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36465710

RESUMEN

Purpose: In Afghanistan, research work is still in its infancy and there is no national level tumor registry at the moment in the country that could elaborate the histopathological features of ovarian tumors in the country. The current study was conducted with the aim to describe pathological characteristics of ovarian tumors diagnosed at tertiary level in Afghanistan. Patients and Methods: A descriptive cross-sectional study was conducted, including 198 cases diagnosed with ovarian tumors, that were consecutively included in the study from July 2017 to August 2020. All the cases were diagnosed at the Department of Pathology, French Medical Institute for Mothers and Children, Kabul, Afghanistan, that receives biopsy samples from all of the tertiary care institutions in Kabul. Results: In the current study, majority of the ovarian tumors were benign and presented with nonspecific symptoms. The mean age at diagnosis was 34.4 (SD ±13.4). Benign tumors comprised 81.8%, borderline 1.5% and malignant 16.7% of the cases. Majority of the diagnosed tumors were from surface epithelium in origin, followed by germ cell tumors, sex cord stromal tumors, and a single metastatic tumor. The most common benign neoplasm was mature cystic teratoma, followed by benign serous cystadenoma. Considering the malignant tumors, serous cystadenocarcinoma and adult granulosa cell tumors were predominant, followed by endometrioid adenocarcinoma and mucinous cystadenocarcinoma. More than half of the ovarian tumors occurred between 21 and 40 years of age. Conclusion: In the current study, the proportion of malignant ovarian neoplasms was significantly less than benign lesions. Although, many of the pathological features related to ovarian neoplasms were similar to the features demonstrated in other regions of the world, there were important findings that were exclusively noted in the cases diagnosed in Afghanistan.

10.
Cancer Manag Res ; 14: 2569-2582, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36065259

RESUMEN

Purpose: Cancer is one of the leading causes of mortality and morbidity, and therefore, tremendous research work is continuously being done around the world with consideration of etiopathogenesis as well as identification of therapeutic targets. Decades of continuous war in Afghanistan has left the medical infrastructure of the country in a miserable situation. There is a serious deficiency in research work in the fields of pathology and oncology at the moment with minimal data available to elaborate about the demographic characteristics of various malignant disorders in the country, which would be indispensable to pave the way for further research and development. Patients and Methods: A descriptive cross-sectional study was conducted to describe the prevalence, distribution, and important histopathological features of malignant tumors reported at tertiary level in Afghanistan. Results: Out of 2328 consecutive cases of solid malignant tumors included in our study, 93.8% were primary and 6.2% were metastatic. Breast was the most common site of origin for primary malignancy (29.5%) in females; however, in males, esophagus was the leading site for primary malignant tumors (16.3%). Invasive ductal carcinoma was the most common histologic type of malignancy in females (87.9%). However, in both genders, squamous cell carcinoma of esophagus and skin, osteosarcoma of bone and soft tissue, and glioblastoma of central nervous system were the most common histologic types of malignancies diagnosed. Small intestine was a frequently involved site affected by extranodal non-Hodgkin lymphomas. Overall, the majority of the cancers were diagnosed in stage-II. Conclusion: Findings in our study were somewhat similar to data presented elsewhere in the world, with some significant differences that could be related to the local factors. Our study revealed that most of the malignant tumors were diagnosed in later stages of the disease, attributable to scarcity of specialized oncology institutions and public awareness.

11.
EJHaem ; 3(3): 1013-1017, 2022 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-36051042

RESUMEN

Clonal evolution in acute leukemias is one of the most important factors that leads to therapeutic failure and disease relapse. Delay in therapeutic intervention is one of the reasons that leads toward clonal evolution. In this report, we present a case of acute lymphoblastic leukemia in which therapeutic delay resulted in clonal evolution that was detected by conventional karyotyping and was responsible for non-responsiveness of the disease to conventional chemotherapy. A 17-year-old boy presented with generalized body aches, rapidly progressive pallor and lethargy. Bone marrow analysis was consistent with the diagnosis of B-cell ALL. Karyotypic analysis revealed 46, XY male karyotype. The patient left the hospital due to financial reasons and after 40 days came back to the hospital. Repeated bone marrow analysis including cytogenetic studies revealed presence of three different clones of blast cells: one clone showed 46, XY with del(9p) and t (11;14), second clone showed 46, XY with del(7q) and del(9p), and the third clone showed 46, XY normal karyotype. The patient did not respond to chemotherapy and died within 1 week of induction chemotherapy (HyperCVAD-A). Timely diagnosis and institution of chemotherapy in acute leukemias patients is the key to prevent clonal evolution and thus resistance of the disease to therapeutic interventions.

12.
EJHaem ; 3(1): 218-222, 2022 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-35846222

RESUMEN

Background: Acute promyelocytic leukaemia results from reciprocal translocation between the long arms of chromosomes 15 and 17. This translocation leads to the formation of chimeric gene, which is both the diagnostic marker as well as the therapeutic target of the disease. Additional chromosomal abnormalities are randomly encountered either at diagnosis or during therapy. Here, we present a case of acute promyelocytic leukaemia that had a rare cytogenetic profile at diagnosis. Case presentation: Our patient was a 14-year-old boy, who presented with characteristic clinical and morphological features of acute promyelocytic leukaemia. Karyotypic analysis revealed trisomy of chromosome 8 with deletion of 9p in addition to t(15;17). The patient passed away within the first 8 h of presentation while receiving conventional chemotherapy and haemodynamic resuscitation. Conclusion: Our patient presented with a rare cytogenetic profile and rapidly progressive disease. According to our extensive literature search, this was the first case of acute promyelocytic leukaemia having pathognomonic t(15;17) along with trisomy 8 and 9q deletion.

13.
Int J Surg Case Rep ; 85: 106290, 2021 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-34400392

RESUMEN

INTRODUCTION AND IMPORTANCE: Epidermal cysts can rarely occur in internal organs, but epidermal cyst of the urinary bladder is extremely rare with a very low tendency for malignant transformation. This article will guide the physicians to be aware of such rare complex neoplastic combinations to take proper decisions in management and treatment of the patients. CASE PRESENTATION: A 40-year-old rural male patient with hematuria and urinary frequency presented to a hospital. Ultrasonography reported a cyst and a 2 × 1.5 cm stone in the urinary bladder. Surgery planned to remove the cyst and the stone. During the surgery, a cyst with solid parts and a stone were observed. The cyst had superficial penetrations into the bladder wall, the patient refused to done radical cystectomy, therefore the cyst excised from the bladder and sent for histopathological examination. The histopathological examination confirmed a well differentiated invasive squamous cell carcinoma arising from epidermal cyst with detrusor muscle invasion, staged pT2aNx. After diagnosis the patient received chemotherapy and improved his urinary symptoms. The possibility of further radical cystectomy and radiotherapy in neighboring countries remains open. CLINICAL DISCUSSION: Urinary bladder cysts associated with stones are uncommon but the occurrence of epidermal cyst in the urinary bladder is an extremely unusual incidence and malignant transformation of this lesion made it even rarer. CONCLUSION: Despite the rarity of malignant transformation in epidermal cyst and the unknown etiology of its occurrence in the urinary bladder, further clinicopathological and molecular studies are needed to reveal the possible pathogenesis with involved risk factors.

14.
J Ovarian Res ; 14(1): 81, 2021 Jun 21.
Artículo en Inglés | MEDLINE | ID: mdl-34154625

RESUMEN

BACKGROUND: Hilus cell tumours is considered an uncommon branch of androgen producing neoplasms that accounts for < 5% of all ovarian tumours. They are mostly benign and have characteristic gross and microscopic features. Here we present the first case of a hilus cell tumour in association with bilateral serous cystadenomas. CASE PRESENTATION: A 65-year-old lady with no symptoms of virilization, presented with postmenopausal dysfunctional uterine bleeding and radiological investigations revealing bilateral ovarian cysts that required a total abdominal hysterectomy with bilateral salpingo-oophorectomy. Gross and microscopic evaluation confirmed the diagnosis of hilus cell tumour associated with bilateral serous cystadenomas. CONCLUSIONS: This was the first case of hilus cell tumour in association with bilateral serous cystadenomas of the ovaries. Although, majority of hilus cell tumours that have been reported in the literature were benign, further studies are required to determine the behavior of the disease.


Asunto(s)
Cistadenoma Seroso/diagnóstico , Neoplasias Ováricas/diagnóstico , Anciano , Cistadenoma Seroso/fisiopatología , Femenino , Humanos , Neoplasias Ováricas/fisiopatología
15.
J Med Case Rep ; 15(1): 279, 2021 Jun 01.
Artículo en Inglés | MEDLINE | ID: mdl-34059119

RESUMEN

BACKGROUND: Polyps of the uterine cervix are one of the most common benign hyperplastic lesions occurring in the female genital tract that usually arise from the endocervical canal and are believed to be the result of reactive changes due to long-standing chronic inflammation, multiparty, and foreign bodies. Cervical polyps are usually small in size (less than 4 cm) that are commonly found in adult women; however, a few cases of giant polyps and the rare occurrence of these lesions in children have also been reported. Heterotopias and malignant transformation in cervical polyps are considered to be very rare. CASE PRESENTATION: We present the case of a 10-year-old Afghan girl with a giant pedunculated mass protruding out of the uterine cervix that was accompanied by abdominal pain and mass sensation. The mass was completely excised by surgical intervention and the specimen was submitted for histopathological evaluation. Upon gross and microscopic examination, the characteristic findings of a hamartomatous polyp with heterologous mesenchymal tissue in the form of mature cartilage were seen. To the best of our knowledge, this is the first case of a giant (17.5 cm) hamartomatous polyp of the uterine cervix in this age group. CONCLUSION: Giant hamartomatous cervical polyps rarely occur in patients below 10 years of age. The majority of these lesions are benign; however, a few cases with malignant transformation are also reported, which demands elaborate investigations into the etiopathogenesis and nature of the lesions.


Asunto(s)
Hamartoma , Neoplasias del Cuello Uterino , Adulto , Transformación Celular Neoplásica , Niño , Familia , Femenino , Humanos , Neoplasias del Cuello Uterino/cirugía
16.
J Med Case Rep ; 15(1): 379, 2021 Jul 16.
Artículo en Inglés | MEDLINE | ID: mdl-34271989

RESUMEN

INTRODUCTION: The novel coronavirus, since its first identification in China, in December 2019, has shown remarkable heterogeneity in its clinical behavior. It has affected humans on every continent. Clinically, it has affected every organ system. The outcome has also been variable, with most of the older patients showing grave outcomes as compared with the younger individuals. Here we present a rare and severe variant of Guillain-Barre syndrome that complicated the disease in recovery phase. CASE PRESENTATION: A 60-year-old Afghan man, who had been recovering from symptoms related to novel coronavirus associated disease, presented with sudden onset of progressive muscle weakness and oxygen desaturation. Electrophysiological workup confirmed the diagnosis of Guillain-Barre syndrome, and early institution of intravenous immunoglobulin resulted in complete resolution. CONCLUSION: Guillain-Barre syndrome has recently been reported in many patients diagnosed with novel coronavirus associated disease. While clinical suspicion is mandatory to guide towards an effective diagnostic workup, early diagnosis of this complication and timely institution of therapeutic interventions are indispensable and lifesaving.


Asunto(s)
COVID-19 , Síndrome de Guillain-Barré , China , Síndrome de Guillain-Barré/complicaciones , Síndrome de Guillain-Barré/diagnóstico , Humanos , Inmunoglobulinas Intravenosas/uso terapéutico , Masculino , Persona de Mediana Edad , SARS-CoV-2
17.
Mol Cytogenet ; 14(1): 16, 2021 Mar 08.
Artículo en Inglés | MEDLINE | ID: mdl-33685471

RESUMEN

BACKGROUND: Although, molecular genetic analyses became more and more important to guide therapy decisions in leukemia, banding cytogenetic analysis has retained its vital role in diagnosis and monitoring of chronic myeloid leukemia (CML), by quick and easy enabling identification of pathognomonic Philadelphia chromosome (Ph). CASE PRESENTATION: A 45 year old female presented with characteristic hematological features of CML in chronic phase; cytogenetic studies revealed the presence of the typical Ph and a deletion of almost entire long arm of a chromosome 5. CONCLUSION: 5q deletions have rarely been reported in CML. Those seen yet were either associated with tyrosine kinase inhibitor therapy or detected post allogeneic stem cell transplantation. To our knowledge, this is the first case of Ph positive CML accompanied by a 5q deletion.

18.
J Med Case Rep ; 14(1): 231, 2020 Nov 27.
Artículo en Inglés | MEDLINE | ID: mdl-33243265

RESUMEN

INTRODUCTION: BCR-ABL1, resulting from t(9;22), is the oncogenic driver of chronic myeloid leukemia and the therapeutic target of the disease. Molecular studies have been the gold standard modality for patient assessment since the advent of tyrosine kinase inhibitor therapy. In spite of that, there are cytogenetic abnormalities that can render the disease unresponsive to conventional therapy, thus making cytogenetics an important component of patient management guidelines. CASE PRESENTATION: We present a case of a Tajik, Afghan patient with chronic myeloid leukemia with del(6)(q23.3q27), t(9;22)(q34;q11.2), monosomy 11, monosomy 12, and marker chromosome who, despite having typical clinical and hematological disease with initial response to therapy, progressed to blast crisis very early and thus required special interventions. CONCLUSION: Cytogenetic monitoring is an important pillar in the management of patients with chronic myeloid leukemia that cannot be ignored. It should therefore be a part of patient management not only during diagnosis but also during management. We present an unusual cytogenetic abnormality in a patient with chronic myeloid leukemia that resulted in early disease progression.


Asunto(s)
Crisis Blástica , Leucemia Mielógena Crónica BCR-ABL Positiva , Crisis Blástica/genética , Aberraciones Cromosómicas , Análisis Citogenético , Citogenética , Humanos , Leucemia Mielógena Crónica BCR-ABL Positiva/tratamiento farmacológico , Leucemia Mielógena Crónica BCR-ABL Positiva/genética
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